Details for: SCN5A

Gene ID: 6331

Symbol: SCN5A

Ensembl ID: ENSG00000183873

Description: sodium voltage-gated channel alpha subunit 5

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 17.1106
    Cell Significance Index: -4.3400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 10.0921
    Cell Significance Index: -4.1000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 4.2962
    Cell Significance Index: 263.4000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 3.5900
    Cell Significance Index: 275.4900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.1628
    Cell Significance Index: 221.2900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.9266
    Cell Significance Index: 91.6700
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 0.7942
    Cell Significance Index: 6.8700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7217
    Cell Significance Index: 651.6800
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.6834
    Cell Significance Index: 10.0900
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 0.6251
    Cell Significance Index: -1.9200
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 0.5483
    Cell Significance Index: -1.2000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.5374
    Cell Significance Index: 11.4500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4755
    Cell Significance Index: 77.3400
  • Cell Name: surface ectodermal cell (CL0000114)
    Fold Change: 0.4378
    Cell Significance Index: 3.4600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.4310
    Cell Significance Index: 46.8900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.4245
    Cell Significance Index: 11.3800
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.4132
    Cell Significance Index: 5.1300
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.2812
    Cell Significance Index: 2.3900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2190
    Cell Significance Index: 15.1500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2179
    Cell Significance Index: 11.3200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.2037
    Cell Significance Index: 12.2300
  • Cell Name: chandelier cell (CL4023083)
    Fold Change: 0.1969
    Cell Significance Index: 1.5900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1780
    Cell Significance Index: 3.0500
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.1243
    Cell Significance Index: 3.1000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1224
    Cell Significance Index: 84.6500
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 0.1047
    Cell Significance Index: 1.7300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0969
    Cell Significance Index: 11.9200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0873
    Cell Significance Index: 15.7500
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 0.0641
    Cell Significance Index: 0.5300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0558
    Cell Significance Index: 3.1300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0543
    Cell Significance Index: 10.8900
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.0472
    Cell Significance Index: 0.3200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.0217
    Cell Significance Index: 0.2000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0134
    Cell Significance Index: 1.5600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0120
    Cell Significance Index: 1.7400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0106
    Cell Significance Index: 0.2300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0078
    Cell Significance Index: 1.5400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0069
    Cell Significance Index: 0.9500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0048
    Cell Significance Index: 1.7200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0032
    Cell Significance Index: 1.4000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0020
    Cell Significance Index: 0.1200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0012
    Cell Significance Index: 1.6000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0006
    Cell Significance Index: 1.1900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0004
    Cell Significance Index: 0.5400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0002
    Cell Significance Index: -0.0200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0003
    Cell Significance Index: -0.4800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0007
    Cell Significance Index: -0.0300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0008
    Cell Significance Index: -0.1000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0028
    Cell Significance Index: -0.0400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0040
    Cell Significance Index: -0.1000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0040
    Cell Significance Index: -0.1400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0044
    Cell Significance Index: -2.8000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0046
    Cell Significance Index: -3.4100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0059
    Cell Significance Index: -4.4800
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0060
    Cell Significance Index: -0.1200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0061
    Cell Significance Index: -2.7900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0066
    Cell Significance Index: -3.7200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0066
    Cell Significance Index: -3.6200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0069
    Cell Significance Index: -0.2000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0101
    Cell Significance Index: -2.9200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0107
    Cell Significance Index: -0.2900
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0159
    Cell Significance Index: -0.3300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0163
    Cell Significance Index: -0.4600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0170
    Cell Significance Index: -2.9000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0198
    Cell Significance Index: -4.1600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0212
    Cell Significance Index: -2.4300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0241
    Cell Significance Index: -0.6200
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0267
    Cell Significance Index: -0.6400
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.0320
    Cell Significance Index: -0.4600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0337
    Cell Significance Index: -4.3500
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: -0.0354
    Cell Significance Index: -0.3700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0362
    Cell Significance Index: -1.1600
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.0383
    Cell Significance Index: -0.8000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0389
    Cell Significance Index: -4.5900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0407
    Cell Significance Index: -4.2400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0433
    Cell Significance Index: -4.4200
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.0449
    Cell Significance Index: -0.7200
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.0495
    Cell Significance Index: -0.6400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0501
    Cell Significance Index: -3.3700
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.0523
    Cell Significance Index: -1.0300
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -0.0528
    Cell Significance Index: -0.5500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0558
    Cell Significance Index: -2.4700
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0570
    Cell Significance Index: -2.4800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0589
    Cell Significance Index: -4.3900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0592
    Cell Significance Index: -2.7600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0601
    Cell Significance Index: -3.8800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0612
    Cell Significance Index: -1.2800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0674
    Cell Significance Index: -3.5400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0684
    Cell Significance Index: -2.5900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0698
    Cell Significance Index: -4.4000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0740
    Cell Significance Index: -1.0100
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.0766
    Cell Significance Index: -1.1000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0783
    Cell Significance Index: -4.0800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0822
    Cell Significance Index: -2.6900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0836
    Cell Significance Index: -3.9300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0879
    Cell Significance Index: -3.0600
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0898
    Cell Significance Index: -2.1800
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0921
    Cell Significance Index: -3.2300
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0939
    Cell Significance Index: -2.9700
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: -0.0966
    Cell Significance Index: -1.2000

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The SCN5A gene is a transmembrane protein that spans the plasma membrane of cardiac cells, where it forms part of the voltage-gated sodium channel complex. This complex is responsible for the rapid depolarization phase of the cardiac action potential, which is essential for the initiation of muscle contraction. The SCN5A protein is composed of six transmembrane domains, which are critical for its function. The gene is highly expressed in cardiac myocytes and is also found in other cell types, such as granulocyte monocyte progenitor cells and enterocytes. **Pathways and Functions** The SCN5A gene is involved in several critical pathways, including: 1. **Cardiac Conduction**: The SCN5A protein plays a crucial role in the transmission of electrical signals in the heart, enabling it to contract and pump blood efficiently. 2. **Action Potential**: The SCN5A protein is essential for the rapid depolarization phase of the cardiac action potential, which is critical for muscle contraction. 3. **Sodium Ion Transport**: The SCN5A protein regulates sodium ion transmembrane transport, which is essential for the generation of the cardiac action potential. 4. **Regulation of Heart Rate**: The SCN5A protein is involved in the regulation of heart rate, particularly in response to denervation. **Clinical Significance** Mutations in the SCN5A gene have been associated with various cardiac arrhythmias and congenital heart defects, including: 1. **Long QT Syndrome**: SCN5A mutations are a common cause of long QT syndrome, a condition characterized by abnormal prolongation of the QT interval on an electrocardiogram. 2. **Brugada Syndrome**: SCN5A mutations are also associated with Brugada syndrome, a condition characterized by abnormal electrocardiogram findings and increased risk of sudden cardiac death. 3. **Congenital Heart Defects**: SCN5A mutations have been associated with various congenital heart defects, including atrial septal defects and ventricular septal defects. In conclusion, the SCN5A gene plays a critical role in cardiac function, and mutations in this gene can have significant clinical implications. Further research is needed to fully understand the mechanisms underlying SCN5A-related cardiac arrhythmias and congenital heart defects, and to develop effective therapeutic strategies for these conditions.

Genular Protein ID: 2366523166

Symbol: SCN5A_HUMAN

Name: Sodium channel protein cardiac muscle subunit alpha

UniProtKB Accession Codes:

Q14524 A5H1P8 A6N922 A6N923 B2RTU0 E7ET19 E9PEF3 E9PEK2 E9PFW7 Q59H93 Q75RX9 Q75RY0 Q86UR3 Q8IZC9 Q96J69

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 6 CDD 1 CORUM 1 CTD 1 ChEBI 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 4 DIP 2 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 45 DrugCentral 1 EMBL 14 EMDB 2 Ensembl 3 EvolutionaryTrace 1 ExpressionAtlas 1 GO 67 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 19 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OpenTargets 1 Orphanet 8 OrthoDB 1 PANTHER 2 PDB 11 PDBsum 11 PIR 1 PRINTS 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 7 RNAct 1 Reactome 2 RefSeq 6 Rhea 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1309946

Title: Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel.

PubMed ID: 1309946

DOI: 10.1073/pnas.89.2.554

PubMed ID: 12358675

Title: SCN5A is expressed in human jejunal circular smooth muscle cells.

PubMed ID: 12358675

DOI: 10.1046/j.1365-2982.2002.00348.x

PubMed ID: 14500339

Title: A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels.

PubMed ID: 14500339

DOI: 10.1161/01.res.0000096652.14509.96

PubMed ID: 12454206

Title: A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.

PubMed ID: 12454206

DOI: 10.1152/physiolgenomics.00117.2002

PubMed ID: 16115203

Title: Tetrodotoxin-resistant Na+ channels in human neuroblastoma cells are encoded by new variants of Nav1.5/SCN5A.

PubMed ID: 16115203

DOI: 10.1111/j.1460-9568.2005.04280.x

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15217910

Title: Cardiac voltage-gated sodium channel Nav1.5 is regulated by Nedd4-2 mediated ubiquitination.

PubMed ID: 15217910

DOI: 10.1161/01.res.0000136816.05109.89

PubMed ID: 15548568

Title: Molecular determinants of voltage-gated sodium channel regulation by the Nedd4/Nedd4-like proteins.

PubMed ID: 15548568

DOI: 10.1152/ajpcell.00460.2004

PubMed ID: 16054936

Title: Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine.

PubMed ID: 16054936

DOI: 10.1016/s0140-6736(05)66786-4

PubMed ID: 19666841

Title: GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A.

PubMed ID: 19666841

DOI: 10.1152/ajpheart.00513.2009

PubMed ID: 19376164

Title: Analysis of four novel variants of Nav1.5/SCN5A cloned from the brain.

PubMed ID: 19376164

DOI: 10.1016/j.neures.2009.04.003

PubMed ID: 19027780

Title: SCN5A channelopathies - An update on mutations and mechanisms.

PubMed ID: 19027780

DOI: 10.1016/j.pbiomolbio.2008.10.005

PubMed ID: 20398673

Title: Structure and function of splice variants of the cardiac voltage-gated sodium channel Na(v)1.5.

PubMed ID: 20398673

DOI: 10.1016/j.yjmcc.2010.04.004

PubMed ID: 21447824

Title: MOG1: a new susceptibility gene for Brugada syndrome.

PubMed ID: 21447824

DOI: 10.1161/circgenetics.110.959130

PubMed ID: 21817159

Title: Fibroblast growth factor homologous factor 13 regulates Na+ channels and conduction velocity in murine hearts.

PubMed ID: 21817159

DOI: 10.1161/circresaha.111.247957

PubMed ID: 21726068

Title: The cardiac sodium channel is post-translationally modified by arginine methylation.

PubMed ID: 21726068

DOI: 10.1021/pr200339n

PubMed ID: 23092124

Title: Mass spectrometry-based identification of native cardiac Nav1.5 channel alpha subunit phosphorylation sites.

PubMed ID: 23092124

DOI: 10.1021/pr300702c

PubMed ID: 23420830

Title: MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome.

PubMed ID: 23420830

DOI: 10.1161/circep.111.000206

PubMed ID: 24898004

Title: Gating-pore currents demonstrate selective and specific modulation of individual sodium channel voltage-sensors by biological toxins.

PubMed ID: 24898004

DOI: 10.1124/mol.114.092338

PubMed ID: 26721415

Title: Molecular determinant for the tarantula toxin Jingzhaotoxin-I slowing the fast inactivation of voltage-gated sodium channels.

PubMed ID: 26721415

DOI: 10.1016/j.toxicon.2015.12.009

PubMed ID: 37117223

Title: Pain-causing stinging nettle toxins target TMEM233 to modulate NaV1.7 function.

PubMed ID: 37117223

DOI: 10.1038/s41467-023-37963-2

PubMed ID: 19074138

Title: Solution NMR structure of the C-terminal EF-hand domain of human cardiac sodium channel NaV1.5.

PubMed ID: 19074138

DOI: 10.1074/jbc.m807747200

PubMed ID: 21167176

Title: Solution NMR structure of Apo-calmodulin in complex with the IQ motif of human cardiac sodium channel NaV1.5.

PubMed ID: 21167176

DOI: 10.1016/j.jmb.2010.11.046

PubMed ID: 22705208

Title: Crystal structure of the ternary complex of a NaV C-terminal domain, a fibroblast growth factor homologous factor, and calmodulin.

PubMed ID: 22705208

DOI: 10.1016/j.str.2012.05.001

PubMed ID: 25370050

Title: Regulation of the NaV1.5 cytoplasmic domain by calmodulin.

PubMed ID: 25370050

DOI: 10.1038/ncomms6126

PubMed ID: 7889574

Title: SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome.

PubMed ID: 7889574

DOI: 10.1016/0092-8674(95)90359-3

PubMed ID: 8541846

Title: Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia.

PubMed ID: 8541846

DOI: 10.1093/hmg/4.9.1603

PubMed ID: 7651517

Title: Molecular mechanism for an inherited cardiac arrhythmia.

PubMed ID: 7651517

DOI: 10.1038/376683a0

PubMed ID: 9686753

Title: Novel LQT-3 mutation affects Na+ channel activity through interactions between alpha- and beta1-subunits.

PubMed ID: 9686753

DOI: 10.1161/01.res.83.2.141

PubMed ID: 9506831

Title: A de novo missense mutation of human cardiac Na(+) channel exhibiting novel molecular mechanisms of long QT syndrome.

PubMed ID: 9506831

DOI: 10.1016/s0014-5793(98)00033-7

PubMed ID: 10627139

Title: Identification of a new SCN5A mutation, D1840G, associated with the long QT syndrome.

PubMed ID: 10627139

PubMed ID: 9521325

Title: Genetic basis and molecular mechanism for idiopathic ventricular fibrillation.

PubMed ID: 9521325

DOI: 10.1038/32675

PubMed ID: 10508990

Title: Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations.

PubMed ID: 10508990

DOI: 10.1002/(sici)1096-8628(19991029)86:5<470::aid-ajmg13>3.0.co;2-y

PubMed ID: 10690282

Title: Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome.

PubMed ID: 10690282

DOI: 10.1016/s0008-6363(99)00350-8

PubMed ID: 10377081

Title: Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel.

PubMed ID: 10377081

DOI: 10.1161/01.cir.99.24.3165

PubMed ID: 10532948

Title: Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent.

PubMed ID: 10532948

DOI: 10.1161/01.res.85.9.803

PubMed ID: 10590249

Title: A single Na(+) channel mutation causing both long-QT and Brugada syndromes.

PubMed ID: 10590249

DOI: 10.1161/01.res.85.12.1206

PubMed ID: 10471492

Title: Cardiac conduction defects associate with mutations in SCN5A.

PubMed ID: 10471492

DOI: 10.1038/12618

PubMed ID: 10618304

Title: Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit.

PubMed ID: 10618304

DOI: 10.1161/01.cir.101.1.54

PubMed ID: 10973849

Title: Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

PubMed ID: 10973849

DOI: 10.1161/01.cir.102.10.1178

PubMed ID: 10940383

Title: A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome.

PubMed ID: 10940383

DOI: 10.1016/s0014-5793(00)01875-5

PubMed ID: 10911008

Title: A molecular link between the sudden infant death syndrome and the long-QT syndrome.

PubMed ID: 10911008

DOI: 10.1056/nejm200007273430405

PubMed ID: 11304498

Title: Novel arrhythmogenic mechanism revealed by a long-QT syndrome mutation in the cardiac Na(+) channel.

PubMed ID: 11304498

DOI: 10.1161/hh0701.089668

PubMed ID: 11410597

Title: Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes.

PubMed ID: 11410597

DOI: 10.1074/jbc.m104471200

PubMed ID: 11748104

Title: Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family.

PubMed ID: 11748104

DOI: 10.1161/hc5001.100834

PubMed ID: 11710892

Title: Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome.

PubMed ID: 11710892

DOI: 10.1001/jama.286.18.2264

PubMed ID: 11234013

Title: A sodium-channel mutation causes isolated cardiac conduction disease.

PubMed ID: 11234013

DOI: 10.1038/35059090

PubMed ID: 12106943

Title: Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients.

PubMed ID: 12106943

DOI: 10.1016/s0735-1097(02)01962-9

PubMed ID: 11804990

Title: Clinical, genetic and biophysical characterisation of SCN5A mutations associated with atrioventricular conduction block.

PubMed ID: 11804990

DOI: 10.1161/hc0302.102592

PubMed ID: 11889015

Title: Na(+) channel mutation that causes both Brugada and long-QT syndrome phenotypes: a simulation study of mechanism.

PubMed ID: 11889015

DOI: 10.1161/hc1002.105183

PubMed ID: 11901046

Title: Natural history of Brugada syndrome: insights for risk stratification and management.

PubMed ID: 11901046

DOI: 10.1161/hc1102.105288

PubMed ID: 11997281

Title: Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes.

PubMed ID: 11997281

DOI: 10.1161/01.cir.0000014448.19052.4c

PubMed ID: 11823453

Title: Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome.

PubMed ID: 11823453

DOI: 10.1093/hmg/11.3.337

PubMed ID: 12471205

Title: SNP S1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a white family.

PubMed ID: 12471205

DOI: 10.1136/jmg.39.12.913

PubMed ID: 12051963

Title: Novel mutations in domain I of SCN5A cause Brugada syndrome.

PubMed ID: 12051963

DOI: 10.1016/s1096-7192(02)00006-9

PubMed ID: 12209021

Title: A novel SCN5A mutation associated with long QT-3: altered inactivation kinetics and channel dysfunction.

PubMed ID: 12209021

DOI: 10.1152/physiolgenomics.00039.2002

PubMed ID: 12193783

Title: Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia.

PubMed ID: 12193783

DOI: 10.1126/science.1073569

PubMed ID: 12522116

Title: A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill.

PubMed ID: 12522116

DOI: 10.1161/01.res.0000050585.07097.d7

PubMed ID: 12574143

Title: Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system.

PubMed ID: 12574143

DOI: 10.1161/01.res.0000052672.97759.36

PubMed ID: 12673799

Title: A novel mutation L619F in the cardiac Na+ channel SCN5A associated with long-QT syndrome (LQT3): a role for the I-II linker in inactivation gating.

PubMed ID: 12673799

DOI: 10.1002/humu.9136

PubMed ID: 12569159

Title: A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation.

PubMed ID: 12569159

DOI: 10.1172/jci16879

PubMed ID: 14523039

Title: Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A).

PubMed ID: 14523039

DOI: 10.1172/jci18062

PubMed ID: 15023552

Title: A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs.

PubMed ID: 15023552

DOI: 10.1016/j.cardiores.2004.01.022

PubMed ID: 15466643

Title: SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia.

PubMed ID: 15466643

DOI: 10.1161/01.cir.0000144458.58660.bb

PubMed ID: 15338453

Title: Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans with Brugada syndrome.

PubMed ID: 15338453

DOI: 10.1007/s10038-004-0182-z

PubMed ID: 15579534

Title: Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes.

PubMed ID: 15579534

DOI: 10.1073/pnas.0403711101

PubMed ID: 16266370

Title: Novel Brugada syndrome-causing mutation in ion-conducting pore of cardiac Na+ channel does not affect ion selectivity properties.

PubMed ID: 16266370

DOI: 10.1111/j.1365-201x.2005.01496.x

PubMed ID: 15851320

Title: Double SCN5A mutation underlying asymptomatic Brugada syndrome.

PubMed ID: 15851320

DOI: 10.1016/j.hrthm.2004.11.022

PubMed ID: 16414944

Title: Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

PubMed ID: 16414944

DOI: 10.1001/jama.294.23.2975

PubMed ID: 15840476

Title: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

PubMed ID: 15840476

DOI: 10.1016/j.hrthm.2005.01.020

PubMed ID: 16325048

Title: High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations.

PubMed ID: 16325048

DOI: 10.1016/j.jacc.2005.08.043

PubMed ID: 16616735

Title: A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation.

PubMed ID: 16616735

DOI: 10.1016/j.cardiores.2006.02.030

PubMed ID: 17075016

Title: Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome.

PubMed ID: 17075016

DOI: 10.1161/circulationaha.106.627489

PubMed ID: 16922724

Title: Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

PubMed ID: 16922724

DOI: 10.1111/j.1399-0004.2006.00671.x

PubMed ID: 17081365

Title: Novel SCN5A gene mutations associated with Brugada syndrome: V95I, A1649V and delF1617.

PubMed ID: 17081365

PubMed ID: 18708744

Title: A novel LQT-3 mutation disrupts an inactivation gate complex with distinct rate-dependent phenotypic consequences.

PubMed ID: 18708744

DOI: 10.4161/chan.4956

PubMed ID: 17198989

Title: A sodium channel pore mutation causing Brugada syndrome.

PubMed ID: 17198989

DOI: 10.1016/j.hrthm.2006.09.031

PubMed ID: 18060054

Title: A novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response.

PubMed ID: 18060054

DOI: 10.1371/journal.pone.0001258

PubMed ID: 18341814

Title: Gene (SCN5A) mutation analysis of a Chinese family with Brugada syndrome.

PubMed ID: 18341814

PubMed ID: 18616619

Title: Correlations between clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in the cardiac Na+ channel.

PubMed ID: 18616619

DOI: 10.1111/j.1748-1716.2008.01883.x

PubMed ID: 18456723

Title: Subepicardial phase 0 block and discontinuous transmural conduction underlie right precordial ST-segment elevation by a SCN5A loss-of-function mutation.

PubMed ID: 18456723

DOI: 10.1152/ajpheart.91495.2007

PubMed ID: 18252757

Title: Analyses of a novel SCN5A mutation (C1850S): conduction vs. repolarization disorder hypotheses in the Brugada syndrome.

PubMed ID: 18252757

DOI: 10.1093/cvr/cvn023

PubMed ID: 18599870

Title: Lidocaine-induced Brugada syndrome phenotype linked to a novel double mutation in the cardiac sodium channel.

PubMed ID: 18599870

DOI: 10.1161/circresaha.108.172619

PubMed ID: 18378609

Title: Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation.

PubMed ID: 18378609

DOI: 10.1161/circulationaha.107.757955

PubMed ID: 18088563

Title: Cardiac sodium channel mutation in atrial fibrillation.

PubMed ID: 18088563

DOI: 10.1016/j.hrthm.2007.09.015

PubMed ID: 18929331

Title: A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation.

PubMed ID: 18929331

DOI: 10.1016/j.hrthm.2008.07.013

PubMed ID: 18848812

Title: In utero onset of long QT syndrome with atrioventricular block and spontaneous or lidocaine-induced ventricular tachycardia: compound effects of hERG pore region mutation and SCN5A N-terminus variant.

PubMed ID: 18848812

DOI: 10.1016/j.hrthm.2008.08.010

PubMed ID: 18929244

Title: A novel SCN5A gain-of-function mutation M1875T associated with familial atrial fibrillation.

PubMed ID: 18929244

DOI: 10.1016/j.jacc.2008.07.013

PubMed ID: 18451998

Title: The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome.

PubMed ID: 18451998

DOI: 10.1172/jci34057

PubMed ID: 18368697

Title: SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia.

PubMed ID: 18368697

DOI: 10.1016/j.ymgme.2007.10.009

PubMed ID: 18596570

Title: Cardiac ion channel gene mutations in sudden infant death syndrome.

PubMed ID: 18596570

DOI: 10.1203/pdr.0b013e3181841eca

PubMed ID: 19056759

Title: Sodium channel mutation in irritable bowel syndrome: evidence for an ion channelopathy.

PubMed ID: 19056759

DOI: 10.1152/ajpgi.90571.2008

PubMed ID: 19302788

Title: Biophysical characterization of a new SCN5A mutation S1333Y in a SIDS infant linked to long QT syndrome.

PubMed ID: 19302788

DOI: 10.1016/j.febslet.2009.02.007

PubMed ID: 19251209

Title: Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.

PubMed ID: 19251209

DOI: 10.1016/j.hrthm.2008.11.009

PubMed ID: 19716085

Title: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

PubMed ID: 19716085

DOI: 10.1016/j.hrthm.2009.05.021

PubMed ID: 19272188

Title: Distinct functional defect of three novel Brugada syndrome related cardiac sodium channel mutations.

PubMed ID: 19272188

DOI: 10.1186/1423-0127-16-23

PubMed ID: 20129283

Title: An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

PubMed ID: 20129283

DOI: 10.1016/j.hrthm.2009.09.069

PubMed ID: 21109022

Title: A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations.

PubMed ID: 21109022

DOI: 10.1016/j.hrthm.2010.11.034

PubMed ID: 22795782

Title: Cardiac sinus node dysfunction due to a new mutation of the SCN5A gene.

PubMed ID: 22795782

DOI: 10.1016/j.arcped.2012.04.017

Sequence Information:

  • Length: 2016
  • Mass: 226940
  • Checksum: 841E3A365931190B
  • Sequence:
    • MANFLLPRGT SSFRRFTRES LAAIEKRMAE KQARGSTTLQ ESREGLPEEE APRPQLDLQA 
SKKLPDLYGN PPQELIGEPL EDLDPFYSTQ KTFIVLNKGK TIFRFSATNA LYVLSPFHPI 
RRAAVKILVH SLFNMLIMCT ILTNCVFMAQ HDPPPWTKYV EYTFTAIYTF ESLVKILARG 
FCLHAFTFLR DPWNWLDFSV IIMAYTTEFV DLGNVSALRT FRVLRALKTI SVISGLKTIV 
GALIQSVKKL ADVMVLTVFC LSVFALIGLQ LFMGNLRHKC VRNFTALNGT NGSVEADGLV 
WESLDLYLSD PENYLLKNGT SDVLLCGNSS DAGTCPEGYR CLKAGENPDH GYTSFDSFAW 
AFLALFRLMT QDCWERLYQQ TLRSAGKIYM IFFMLVIFLG SFYLVNLILA VVAMAYEEQN 
QATIAETEEK EKRFQEAMEM LKKEHEALTI RGVDTVSRSS LEMSPLAPVN SHERRSKRRK 
RMSSGTEECG EDRLPKSDSE DGPRAMNHLS LTRGLSRTSM KPRSSRGSIF TFRRRDLGSE 
ADFADDENST AGESESHHTS LLVPWPLRRT SAQGQPSPGT SAPGHALHGK KNSTVDCNGV 
VSLLGAGDPE ATSPGSHLLR PVMLEHPPDT TTPSEEPGGP QMLTSQAPCV DGFEEPGARQ 
RALSAVSVLT SALEELEESR HKCPPCWNRL AQRYLIWECC PLWMSIKQGV KLVVMDPFTD 
LTITMCIVLN TLFMALEHYN MTSEFEEMLQ VGNLVFTGIF TAEMTFKIIA LDPYYYFQQG 
WNIFDSIIVI LSLMELGLSR MSNLSVLRSF RLLRVFKLAK SWPTLNTLIK IIGNSVGALG 
NLTLVLAIIV FIFAVVGMQL FGKNYSELRD SDSGLLPRWH MMDFFHAFLI IFRILCGEWI 
ETMWDCMEVS GQSLCLLVFL LVMVIGNLVV LNLFLALLLS SFSADNLTAP DEDREMNNLQ 
LALARIQRGL RFVKRTTWDF CCGLLRQRPQ KPAALAAQGQ LPSCIATPYS PPPPETEKVP 
PTRKETRFEE GEQPGQGTPG DPEPVCVPIA VAESDTDDQE EDEENSLGTE EESSKQQESQ 
PVSGGPEAPP DSRTWSQVSA TASSEAEASA SQADWRQQWK AEPQAPGCGE TPEDSCSEGS 
TADMTNTAEL LEQIPDLGQD VKDPEDCFTE GCVRRCPCCA VDTTQAPGKV WWRLRKTCYH 
IVEHSWFETF IIFMILLSSG ALAFEDIYLE ERKTIKVLLE YADKMFTYVF VLEMLLKWVA 
YGFKKYFTNA WCWLDFLIVD VSLVSLVANT LGFAEMGPIK SLRTLRALRP LRALSRFEGM 
RVVVNALVGA IPSIMNVLLV CLIFWLIFSI MGVNLFAGKF GRCINQTEGD LPLNYTIVNN 
KSQCESLNLT GELYWTKVKV NFDNVGAGYL ALLQVATFKG WMDIMYAAVD SRGYEEQPQW 
EYNLYMYIYF VIFIIFGSFF TLNLFIGVII DNFNQQKKKL GGQDIFMTEE QKKYYNAMKK 
LGSKKPQKPI PRPLNKYQGF IFDIVTKQAF DVTIMFLICL NMVTMMVETD DQSPEKINIL 
AKINLLFVAI FTGECIVKLA ALRHYYFTNS WNIFDFVVVI LSIVGTVLSD IIQKYFFSPT 
LFRVIRLARI GRILRLIRGA KGIRTLLFAL MMSLPALFNI GLLLFLVMFI YSIFGMANFA 
YVKWEAGIDD MFNFQTFANS MLCLFQITTS AGWDGLLSPI LNTGPPYCDP TLPNSNGSRG 
DCGSPAVGIL FFTTYIIISF LIVVNMYIAI ILENFSVATE ESTEPLSEDD FDMFYEIWEK 
FDPEATQFIE YSVLSDFADA LSEPLRIAKP NQISLINMDL PMVSGDRIHC MDILFAFTKR 
VLGESGEMDA LKIQMEEKFM AANPSKISYE PITTTLRRKH EEVSAMVIQR AFRRHLLQRS 
LKHASFLFRQ QAGSGLSEED APEREGLIAY VMSENFSRPL GPPSSSSISS TSFPPSYDSV 
TRATSDNLQV RGSDYSHSED LADFPPSPDR DRESIV

Genular Protein ID: 3874836249

Symbol: Q86V90_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q86V90

Database IDs:

ARBA 4 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 GO 6 Gene3D 1 HOGENOM 1 InterPro 3 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 2 PharmGKB 1 RefSeq 3 SAM 2 SMR 1 SUPFAM 1 UCSC 1

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 223
  • Mass: 25410
  • Checksum: AA41B552899A3DB5
  • Sequence:
    • MANFLLPRGT SSFRRFTRES LAAIEKRMAE KQARGSTTLQ ESREGLPEEE APRPQLDLQA 
SKKLPDLYGN PPQELIGEPL EDLDPFYSTQ KTFIVLNKGK TIFRFSATNA LYVLSPFHPI 
RRAAVKILVH SLFNMLIMCT ILTNCVFMAQ HDPPPWTKYV EYTFTAIYTF ESLVKILARG 
FCLHAFTFLR DPWNWLDFSV IIMAASVLGT LFFPMSIQAT STS

Genular Protein ID: 1493603143

Symbol: H9KVD2_HUMAN

Name: N/A

UniProtKB Accession Codes:

H9KVD2

Database IDs:

ARBA 16 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 5 Gene3D 4 GeneTree 1 HGNC 1 InterPro 8 KEGG 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OrthoDB 1 PANTHER 2 PRINTS 2 PeptideAtlas 2 Pfam 6 PhylomeDB 1 Proteomes 2 ProteomicsDB 2 RefSeq 1 RuleBase 1 SAM 2 SMR 1 SUPFAM 1 TreeFam 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

Sequence Information:

  • Length: 2016
  • Mass: 226942
  • Checksum: 5045BF4689B56B1A
  • Sequence:
    • MANFLLPRGT SSFRRFTRES LAAIEKRMAE KQARGSTTLQ ESREGLPEEE APRPQLDLQA 
SKKLPDLYGN PPQELIGEPL EDLDPFYSTQ KTFIVLNKGK TIFRFSATNA LYVLSPFHPI 
RRAAVKILVH SLFNMLIMCT ILTNCVFMAQ HDPPPWTKYV EYTFTAIYTF ESLVKILARG 
FCLHAFTFLR DPWNWLDFSV IIMAYVSENI KLGNLSALRT FRVLRALKTI SVIPGLKTIV 
GALIQSVKKL ADVMVLTVFC LSVFALIGLQ LFMGNLRHKC VRNFTALNGT NGSVEADGLV 
WESLDLYLSD PENYLLKNGT SDVLLCGNSS DAGTCPEGYR CLKAGENPDH GYTSFDSFAW 
AFLALFRLMT QDCWERLYQQ TLRSAGKIYM IFFMLVIFLG SFYLVNLILA VVAMAYEEQN 
QATIAETEEK EKRFQEAMEM LKKEHEALTI RGVDTVSRSS LEMSPLAPVN SHERRSKRRK 
RMSSGTEECG EDRLPKSDSE DGPRAMNHLS LTRGLSRTSM KPRSSRGSIF TFRRRDLGSE 
ADFADDENST AGESESHHTS LLVPWPLRRT SAQGQPSPGT SAPGHALHGK KNSTVDCNGV 
VSLLGAGDPE ATSPGSHLLR PVMLEHPPDT TTPSEEPGGP QMLTSQAPCV DGFEEPGARQ 
RALSAVSVLT SALEELEESR HKCPPCWNRL AQRYLIWECC PLWMSIKQGV KLVVMDPFTD 
LTITMCIVLN TLFMALEHYN MTSEFEEMLQ VGNLVFTGIF TAEMTFKIIA LDPYYYFQQG 
WNIFDSIIVI LSLMELGLSR MSNLSVLRSF RLLRVFKLAK SWPTLNTLIK IIGNSVGALG 
NLTLVLAIIV FIFAVVGMQL FGKNYSELRD SDSGLLPRWH MMDFFHAFLI IFRILCGEWI 
ETMWDCMEVS GQSLCLLVFL LVMVIGNLVV LNLFLALLLS SFSADNLTAP DEDREMNNLQ 
LALARIQRGL RFVKRTTWDF CCGLLRQRPQ KPAALAAQGQ LPSCIATPYS PPPPETEKVP 
PTRKETRFEE GEQPGQGTPG DPEPVCVPIA VAESDTDDQE EDEENSLGTE EESSKQQESQ 
PVSGGPEAPP DSRTWSQVSA TASSEAEASA SQADWRQQWK AEPQAPGCGE TPEDSCSEGS 
TADMTNTAEL LEQIPDLGQD VKDPEDCFTE GCVRRCPCCA VDTTQAPGKV WWRLRKTCYH 
IVEHSWFETF IIFMILLSSG ALAFEDIYLE ERKTIKVLLE YADKMFTYVF VLEMLLKWVA 
YGFKKYFTNA WCWLDFLIVD VSLVSLVANT LGFAEMGPIK SLRTLRALRP LRALSRFEGM 
RVVVNALVGA IPSIMNVLLV CLIFWLIFSI MGVNLFAGKF GRCINQTEGD LPLNYTIVNN 
KSQCESLNLT GELYWTKVKV NFDNVGAGYL ALLQVATFKG WMDIMYAAVD SRGYEEQPQW 
EYNLYMYIYF VIFIIFGSFF TLNLFIGVII DNFNQQKKKL GGQDIFMTEE QKKYYNAMKK 
LGSKKPQKPI PRPLNKYQGF IFDIVTKQAF DVTIMFLICL NMVTMMVETD DQSPEKINIL 
AKINLLFVAI FTGECIVKLA ALRHYYFTNS WNIFDFVVVI LSIVGTVLSD IIQKYFFSPT 
LFRVIRLARI GRILRLIRGA KGIRTLLFAL MMSLPALFNI GLLLFLVMFI YSIFGMANFA 
YVKWEAGIDD MFNFQTFANS MLCLFQITTS AGWDGLLSPI LNTGPPYCDP TLPNSNGSRG 
DCGSPAVGIL FFTTYIIISF LIVVNMYIAI ILENFSVATE ESTEPLSEDD FDMFYEIWEK 
FDPEATQFIE YSVLSDFADA LSEPLRIAKP NQISLINMDL PMVSGDRIHC MDILFAFTKR 
VLGESGEMDA LKIQMEEKFM AANPSKISYE PITTTLRRKH EEVSAMVIQR AFRRHLLQRS 
LKHASFLFRQ QAGSGLSEED APEREGLIAY VMSENFSRPL GPPSSSSISS TSFPPSYDSV 
TRATSDNLQV RGSDYSHSED LADFPPSPDR DRESIV

Genular Protein ID: 3891150964

Symbol: K4DIA1_HUMAN

Name: N/A

UniProtKB Accession Codes:

K4DIA1

Database IDs:

ARBA 16 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 5 Gene3D 4 GeneTree 1 HGNC 1 InterPro 8 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 2 PeptideAtlas 1 Pfam 6 Proteomes 2 RefSeq 1 RuleBase 1 SAM 2 SMR 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

Sequence Information:

  • Length: 1962
  • Mass: 221303
  • Checksum: FDFEDFB2D94F2D40
  • Sequence:
    • MANFLLPRGT SSFRRFTRES LAAIEKRMAE KQARGSTTLQ ESREGLPEEE APRPQLDLQA 
SKKLPDLYGN PPQELIGEPL EDLDPFYSTQ KTFIVLNKGK TIFRFSATNA LYVLSPFHPI 
RRAAVKILVH SLFNMLIMCT ILTNCVFMAQ HDPPPWTKYV EYTFTAIYTF ESLVKILARG 
FCLHAFTFLR DPWNWLDFSV IIMAYVSENI KLGNLSALRT FRVLRALKTI SVIPGLKTIV 
GALIQSVKKL ADVMVLTVFC LSVFALIGLQ LFMGNLRHKC VRNFTALNGT NGSVEADGLV 
WESLDLYLSD PENYLLKNGT SDVLLCGNSS DAGTCPEGYR CLKAGENPDH GYTSFDSFAW 
AFLALFRLMT QDCWERLYQQ TLRSAGKIYM IFFMLVIFLG SFYLVNLILA VVAMAYEEQN 
QATIAETEEK EKRFQEAMEM LKKEHEALTI RGVDTVSRSS LEMSPLAPVN SHERRSKRRK 
RMSSGTEECG EDRLPKSDSE DGPRAMNHLS LTRGLSRTSM KPRSSRGSIF TFRRRDLGSE 
ADFADDENST AGESESHHTS LLVPWPLRRT SAQGQPSPGT SAPGHALHGK KNSTVDCNGV 
VSLLGAGDPE ATSPGSHLLR PVMLEHPPDT TTPSEEPGGP QMLTSQAPCV DGFEEPGARQ 
RALSAVSVLT SALEELEESR HKCPPCWNRL AQRYLIWECC PLWMSIKQGV KLVVMDPFTD 
LTITMCIVLN TLFMALEHYN MTSEFEEMLQ VGNLVFTGIF TAEMTFKIIA LDPYYYFQQG 
WNIFDSIIVI LSLMELGLSR MSNLSVLRSF RLLRVFKLAK SWPTLNTLIK IIGNSVGALG 
NLTLVLAIIV FIFAVVGMQL FGKNYSELRD SDSGLLPRWH MMDFFHAFLI IFRILCGEWI 
ETMWDCMEVS GQSLCLLVFL LVMVIGNLVV LNLFLALLLS SFSADNLTAP DEDREMNNLQ 
LALARIQRGL RFVKRTTWDF CCGLLRQRPQ KPAALAAQGQ LPSCIATPYS PPPPETEKVP 
PTRKETRFEE GEQPGQGTPG DPEPVCVPIA VAESDTDDQE EDEENSLGTE EESSKQTPED 
SCSEGSTADM TNTAELLEQI PDLGQDVKDP EDCFTEGCVR RCPCCAVDTT QAPGKVWWRL 
RKTCYHIVEH SWFETFIIFM ILLSSGALAF EDIYLEERKT IKVLLEYADK MFTYVFVLEM 
LLKWVAYGFK KYFTNAWCWL DFLIVDVSLV SLVANTLGFA EMGPIKSLRT LRALRPLRAL 
SRFEGMRVVV NALVGAIPSI MNVLLVCLIF WLIFSIMGVN LFAGKFGRCI NQTEGDLPLN 
YTIVNNKSQC ESLNLTGELY WTKVKVNFDN VGAGYLALLQ VATFKGWMDI MYAAVDSRGY 
EEQPQWEYNL YMYIYFVIFI IFGSFFTLNL FIGVIIDNFN QQKKKLGGQD IFMTEEQKKY 
YNAMKKLGSK KPQKPIPRPL NKYQGFIFDI VTKQAFDVTI MFLICLNMVT MMVETDDQSP 
EKINILAKIN LLFVAIFTGE CIVKLAALRH YYFTNSWNIF DFVVVILSIV GTVLSDIIQK 
YFFSPTLFRV IRLARIGRIL RLIRGAKGIR TLLFALMMSL PALFNIGLLL FLVMFIYSIF 
GMANFAYVKW EAGIDDMFNF QTFANSMLCL FQITTSAGWD GLLSPILNTG PPYCDPTLPN 
SNGSRGDCGS PAVGILFFTT YIIISFLIVV NMYIAIILEN FSVATEESTE PLSEDDFDMF 
YEIWEKFDPE ATQFIEYSVL SDFADALSEP LRIAKPNQIS LINMDLPMVS GDRIHCMDIL 
FAFTKRVLGE SGEMDALKIQ MEEKFMAANP SKISYEPITT TLRRKHEEVS AMVIQRAFRR 
HLLQRSLKHA SFLFRQQAGS GLSEEDAPER EGLIAYVMSE NFSRPLGPPS SSSISSTSFP 
PSYDSVTRAT SDNLQVRGSD YSHSEDLADF PPSPDRDRES IV

Genular Protein ID: 500894520

Symbol: E9PG18_HUMAN

Name: N/A

UniProtKB Accession Codes:

E9PG18

Database IDs:

ARBA 16 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 5 Gene3D 4 GeneTree 1 HGNC 1 InterPro 8 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 2 PeptideAtlas 1 Pfam 6 Proteomes 2 ProteomicsDB 1 RefSeq 1 RuleBase 1 SAM 2 SMR 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

Sequence Information:

  • Length: 1998
  • Mass: 224941
  • Checksum: 031201CCBB9FC8D7
  • Sequence:
    • MANFLLPRGT SSFRRFTRES LAAIEKRMAE KQARGSTTLQ ESREGLPEEE APRPQLDLQA 
SKKLPDLYGN PPQELIGEPL EDLDPFYSTQ KTFIVLNKGK TIFRFSATNA LYVLSPFHPI 
RRAAVKILVH SLFNMLIMCT ILTNCVFMAQ HDPPPWTKYV EYTFTAIYTF ESLVKILARG 
FCLHAFTFLR DPWNWLDFSV IIMAYVSENI KLGNLSALRT FRVLRALKTI SVIPGLKTIV 
GALIQSVKKL ADVMVLTVFC LSVFALIGLQ LFMGNLRHKC VRNFTALNGT NGSVEADGLV 
WESLDLYLSD PENYLLKNGT SDVLLCGNSS DAGTCPEGYR CLKAGENPDH GYTSFDSFAW 
AFLALFRLMT QDCWERLYQQ TLRSAGKIYM IFFMLVIFLG SFYLVNLILA VVAMAYEEQN 
QATIAETEEK EKRFQEAMEM LKKEHEALTI RGVDTVSRSS LEMSPLAPVN SHERRSKRRK 
RMSSGTEECG EDRLPKSDSE DGPRAMNHLS LTRGLSRTSM KPRSSRGSIF TFRRRDLGSE 
ADFADDENST AGESESHHTS LLVPWPLRRT SAQGQPSPGT SAPGHALHGK KNSTVDCNGV 
VSLLGAGDPE ATSPGSHLLR PVMLEHPPDT TTPSEEPGGP QMLTSQAPCV DGFEEPGARQ 
RALSAVSVLT SALEELEESR HKCPPCWNRL AQRYLIWECC PLWMSIKQGV KLVVMDPFTD 
LTITMCIVLN TLFMALEHYN MTSEFEEMLQ VGNLVFTGIF TAEMTFKIIA LDPYYYFQQG 
WNIFDSIIVI LSLMELGLSR MSNLSVLRSF RLLRVFKLAK SWPTLNTLIK IIGNSVGALG 
NLTLVLAIIV FIFAVVGMQL FGKNYSELRD SDSGLLPRWH MMDFFHAFLI IFRILCGEWI 
ETMWDCMEVS GQSLCLLVFL LVMVIGNLVV LNLFLALLLS SFSADNLTAP DEDREMNNLQ 
LALARIQRGL RFVKRTTWDF CCGLLRQRPQ KPAALAAQGQ LPSCIATPYS PPPPETEKVP 
PTRKETRFEE GEQPGQGTPG DPEPVCVPIA VAESDTDDQE EDEENSLGTE EESSKQQESQ 
PVSGGPEAPP DSRTWSQVSA TASSEAEASA SQADWRQQWK AEPQAPGCGE TPEDSCSEGS 
TADMTNTAEL LEQIPDLGQD VKDPEDCFTE GCVRRCPCCA VDTTQAPGKV WWRLRKTCYH 
IVEHSWFETF IIFMILLSSG ALAFEDIYLE ERKTIKVLLE YADKMFTYVF VLEMLLKWVA 
YGFKKYFTNA WCWLDFLIVD VSLVSLVANT LGFAEMGPIK SLRTLRALRP LRALSRFEGM 
RVVVNALVGA IPSIMNVLLV CLIFWLIFSI MGVNLFAGKF GRCINQTEGD LPLNYTIVNN 
KSQCESLNLT GELYWTKVKV NFDNVGAGYL ALLQVYEEQP QWEYNLYMYI YFVIFIIFGS 
FFTLNLFIGV IIDNFNQQKK KLGGQDIFMT EEQKKYYNAM KKLGSKKPQK PIPRPLNKYQ 
GFIFDIVTKQ AFDVTIMFLI CLNMVTMMVE TDDQSPEKIN ILAKINLLFV AIFTGECIVK 
LAALRHYYFT NSWNIFDFVV VILSIVGTVL SDIIQKYFFS PTLFRVIRLA RIGRILRLIR 
GAKGIRTLLF ALMMSLPALF NIGLLLFLVM FIYSIFGMAN FAYVKWEAGI DDMFNFQTFA 
NSMLCLFQIT TSAGWDGLLS PILNTGPPYC DPTLPNSNGS RGDCGSPAVG ILFFTTYIII 
SFLIVVNMYI AIILENFSVA TEESTEPLSE DDFDMFYEIW EKFDPEATQF IEYSVLSDFA 
DALSEPLRIA KPNQISLINM DLPMVSGDRI HCMDILFAFT KRVLGESGEM DALKIQMEEK 
FMAANPSKIS YEPITTTLRR KHEEVSAMVI QRAFRRHLLQ RSLKHASFLF RQQAGSGLSE 
EDAPEREGLI AYVMSENFSR PLGPPSSSSI SSTSFPPSYD SVTRATSDNL QVRGSDYSHS 
EDLADFPPSP DRDRESIV

Genular Protein ID: 973102956

Symbol: E9PHB6_HUMAN

Name: N/A

UniProtKB Accession Codes:

E9PHB6

Database IDs:

ARBA 16 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 5 Gene3D 4 GeneTree 1 HGNC 1 InterPro 8 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 2 PeptideAtlas 2 Pfam 6 Proteomes 2 ProteomicsDB 2 RefSeq 1 RuleBase 1 SAM 2 SMR 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

Sequence Information:

  • Length: 1983
  • Mass: 223100
  • Checksum: 579B086E9266CFDD
  • Sequence:
    • MANFLLPRGT SSFRRFTRES LAAIEKRMAE KQARGSTTLQ ESREGLPEEE APRPQLDLQA 
SKKLPDLYGN PPQELIGEPL EDLDPFYSTQ KTFIVLNKGK TIFRFSATNA LYVLSPFHPI 
RRAAVKILVH SLFNMLIMCT ILTNCVFMAQ HDPPPWTKYV EYTFTAIYTF ESLVKILARG 
FCLHAFTFLR DPWNWLDFSV IIMAYVSENI KLGNLSALRT FRVLRALKTI SVIPGLKTIV 
GALIQSVKKL ADVMVLTVFC LSVFALIGLQ LFMGNLRHKC VRNFTALNGT NGSVEADGLV 
WESLDLYLSD PENYLLKNGT SDVLLCGNSS DAGTCPEGYR CLKAGENPDH GYTSFDSFAW 
AFLALFRLMT QDCWERLYQQ TLRSAGKIYM IFFMLVIFLG SFYLVNLILA VVAMAYEEQN 
QATIAETEEK EKRFQEAMEM LKKEHEALTI RGVDTVSRSS LEMSPLAPVN SHERRSKRRK 
RMSSGTEECG EDRLPKSDSE DGPRAMNHLS LTRGLSRTSM KPRSSRGSIF TFRRRDLGSE 
ADFADDENST AGESESHHTS LLVPWPLRRT SAQGQPSPGT SAPGHALHGK KNSTVDCNGV 
VSLLGAGDPE ATSPGSHLLR PVMLEHPPDT TTPSEEPGGP QMLTSQAPCV DGFEEPGARQ 
RALSAVSVLT SALEELEESR HKCPPCWNRL AQRYLIWECC PLWMSIKQGV KLVVMDPFTD 
LTITMCIVLN TLFMALEHYN MTSEFEEMLQ VGNLVFTGIF TAEMTFKIIA LDPYYYFQQG 
WNIFDSIIVI LSLMELGLSR MSNLSVLRSF RLLRVFKLAK SWPTLNTLIK IIGNSVGALG 
NLTLVLAIIV FIFAVVGMQL FGKNYSELRD SDSGLLPRWH MMDFFHAFLI IFRILCGEWI 
ETMWDCMEVS GQSLCLLVFL LVMVIGNLVV LNLFLALLLS SFSADNLTAP DEDREMNNLQ 
LALARIQRGL RFVKRTTWDF CCGLLRQRPQ KPAALAAQGQ LPSCIATPYS PPPPETEKVP 
PTRKETRFEE GEQPGQGTPG DPEPVCVPIA VAESDTDDQE EDEENSLGTE EESSKQESQP 
VSGGPEAPPD SRTWSQVSAT ASSEAEASAS QADWRQQWKA EPQAPGCGET PEDSCSEGST 
ADMTNTAELL EQIPDLGQDV KDPEDCFTEG CVRRCPCCAV DTTQAPGKVW WRLRKTCYHI 
VEHSWFETFI IFMILLSSGA LAFEDIYLEE RKTIKVLLEY ADKMFTYVFV LEMLLKWVAY 
GFKKYFTNAW CWLDFLIVDV SLVSLVANTL GFAEMGPIKS LRTLRALRPL RALSRFEGMR 
VVVNALVGAI PSIMNVLLVC LIFWLIFSIM GVNLFAGKFG RCINQTEGDL PLNYTIVNNK 
SQCESLNLTG ELYWTKVKVN FDNVGAGYLA LLQVATFKGW MDIMYAAVDS RGYEEQPQWE 
YNLYMYIYFV IFIIFGSFFT LNLFIGVIID NFNQQKKKLG GQDIFMTEEQ KKYYNAMKKL 
GSKKPQKPIP RPLNKYQGFI FDIVTKQAFD VTIMFLICLN MVTMMVETDD QSPEKINILA 
KINLLFVAIF TGTVLSDIIQ KYFFSPTLFR VIRLARIGRI LRLIRGAKGI RTLLFALMMS 
LPALFNIGLL LFLVMFIYSI FGMANFAYVK WEAGIDDMFN FQTFANSMLC LFQITTSAGW 
DGLLSPILNT GPPYCDPTLP NSNGSRGDCG SPAVGILFFT TYIIISFLIV VNMYIAIILE 
NFSVATEEST EPLSEDDFDM FYEIWEKFDP EATQFIEYSV LSDFADALSE PLRIAKPNQI 
SLINMDLPMV SGDRIHCMDI LFAFTKRVLG ESGEMDALKI QMEEKFMAAN PSKISYEPIT 
TTLRRKHEEV SAMVIQRAFR RHLLQRSLKH ASFLFRQQAG SGLSEEDAPE REGLIAYVMS 
ENFSRPLGPP SSSSISSTSF PPSYDSVTRA TSDNLQVRGS DYSHSEDLAD FPPSPDRDRE 
SIV

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.