Details for: KCNH2

Gene ID: 3757

Symbol: KCNH2

Ensembl ID: ENSG00000055118

Description: potassium voltage-gated channel subfamily H member 2

Associated with

  • Cardiac conduction
    (R-HSA-5576891)
  • Muscle contraction
    (R-HSA-397014)
  • Neuronal system
    (R-HSA-112316)
  • Phase 3 - rapid repolarisation
    (R-HSA-5576890)
  • Potassium channels
    (R-HSA-1296071)
  • Voltage gated potassium channels
    (R-HSA-1296072)
  • Cardiac muscle contraction
    (GO:0060048)
  • Cell surface
    (GO:0009986)
  • Cellular response to xenobiotic stimulus
    (GO:0071466)
  • Delayed rectifier potassium channel activity
    (GO:0005251)
  • Identical protein binding
    (GO:0042802)
  • Inward rectifier potassium channel activity
    (GO:0005242)
  • Inward rectifier potassium channel complex
    (GO:1902937)
  • Membrane depolarization during action potential
    (GO:0086010)
  • Membrane repolarization
    (GO:0086009)
  • Membrane repolarization during action potential
    (GO:0086011)
  • Membrane repolarization during cardiac muscle cell action potential
    (GO:0086013)
  • Membrane repolarization during ventricular cardiac muscle cell action potential
    (GO:0098915)
  • Negative regulation of potassium ion export across plasma membrane
    (GO:1903765)
  • Negative regulation of potassium ion transmembrane transport
    (GO:1901380)
  • Perinuclear region of cytoplasm
    (GO:0048471)
  • Plasma membrane
    (GO:0005886)
  • Positive regulation of dna-templated transcription
    (GO:0045893)
  • Positive regulation of potassium ion transmembrane transport
    (GO:1901381)
  • Potassium ion export across plasma membrane
    (GO:0097623)
  • Potassium ion homeostasis
    (GO:0055075)
  • Potassium ion import across plasma membrane
    (GO:1990573)
  • Potassium ion transmembrane transport
    (GO:0071805)
  • Potassium ion transport
    (GO:0006813)
  • Protein binding
    (GO:0005515)
  • Protein homodimerization activity
    (GO:0042803)
  • Regulation of heart rate by cardiac conduction
    (GO:0086091)
  • Regulation of heart rate by hormone
    (GO:0003064)
  • Regulation of membrane potential
    (GO:0042391)
  • Regulation of membrane repolarization
    (GO:0060306)
  • Regulation of potassium ion transmembrane transport
    (GO:1901379)
  • Regulation of ventricular cardiac muscle cell membrane repolarization
    (GO:0060307)
  • Scaffold protein binding
    (GO:0097110)
  • Transcription cis-regulatory region binding
    (GO:0000976)
  • Ubiquitin protein ligase binding
    (GO:0031625)
  • Ventricular cardiac muscle cell action potential
    (GO:0086005)
  • Voltage-gated potassium channel activity
    (GO:0005249)
  • Voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization
    (GO:1902282)
  • Voltage-gated potassium channel complex
    (GO:0008076)

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: basophilic erythroblast (CL0000549)
    Fold Change: 61.7471
    Cell Significance Index: 28.1200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 32.7625
    Cell Significance Index: -8.3100
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 20.3337
    Cell Significance Index: -9.6000
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 5.1973
    Cell Significance Index: 40.0600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 4.5014
    Cell Significance Index: -5.5500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.1566
    Cell Significance Index: -8.5100
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 1.7939
    Cell Significance Index: -5.5100
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.8667
    Cell Significance Index: 10.7500
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 0.8650
    Cell Significance Index: 7.6200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.8502
    Cell Significance Index: 84.1000
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.7697
    Cell Significance Index: 9.3300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7507
    Cell Significance Index: 677.8100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.6943
    Cell Significance Index: 53.2800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.6292
    Cell Significance Index: 13.4000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.5805
    Cell Significance Index: 30.4800
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.4862
    Cell Significance Index: 6.8200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.4658
    Cell Significance Index: 50.6600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4584
    Cell Significance Index: 74.5500
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.4138
    Cell Significance Index: 5.9300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.3882
    Cell Significance Index: 8.5000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.3350
    Cell Significance Index: 20.1100
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.3345
    Cell Significance Index: 1.7600
  • Cell Name: myometrial cell (CL0002366)
    Fold Change: 0.2865
    Cell Significance Index: 3.3000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2846
    Cell Significance Index: 102.0800
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.2540
    Cell Significance Index: 3.7500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2373
    Cell Significance Index: 16.4100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2271
    Cell Significance Index: 45.5600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1648
    Cell Significance Index: 31.3700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1503
    Cell Significance Index: 103.9700
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.0969
    Cell Significance Index: 0.8000
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.0889
    Cell Significance Index: 0.7100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0862
    Cell Significance Index: 10.0500
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 0.0740
    Cell Significance Index: 1.2200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0411
    Cell Significance Index: 1.8200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.0383
    Cell Significance Index: 1.3300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0324
    Cell Significance Index: 1.9900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0309
    Cell Significance Index: 1.1700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0285
    Cell Significance Index: 0.8200
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.0271
    Cell Significance Index: 0.6500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0182
    Cell Significance Index: 3.6100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0090
    Cell Significance Index: 4.0800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.0075
    Cell Significance Index: 5.5400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0065
    Cell Significance Index: 0.1700
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: 0.0053
    Cell Significance Index: 0.0600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0046
    Cell Significance Index: 0.1600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0044
    Cell Significance Index: 0.0800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.0008
    Cell Significance Index: 0.1600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0007
    Cell Significance Index: 1.3000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0005
    Cell Significance Index: -0.3000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0034
    Cell Significance Index: -2.1200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0041
    Cell Significance Index: -7.4800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0050
    Cell Significance Index: -7.7000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0053
    Cell Significance Index: -3.0000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0057
    Cell Significance Index: -0.9800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0059
    Cell Significance Index: -7.9900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0071
    Cell Significance Index: -0.9700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0099
    Cell Significance Index: -0.4500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0128
    Cell Significance Index: -9.3900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0129
    Cell Significance Index: -9.7700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0132
    Cell Significance Index: -1.5100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0137
    Cell Significance Index: -8.6900
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0186
    Cell Significance Index: -0.2800
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.0200
    Cell Significance Index: -0.2500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0217
    Cell Significance Index: -6.2400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0218
    Cell Significance Index: -2.7900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0245
    Cell Significance Index: -0.5300
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0258
    Cell Significance Index: -0.3700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0269
    Cell Significance Index: -0.4500
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0320
    Cell Significance Index: -0.6800
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0354
    Cell Significance Index: -1.0100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0357
    Cell Significance Index: -6.4400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0441
    Cell Significance Index: -5.7000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0482
    Cell Significance Index: -5.6900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0508
    Cell Significance Index: -5.2900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0511
    Cell Significance Index: -7.4300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0552
    Cell Significance Index: -6.7900
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0555
    Cell Significance Index: -6.3400
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0588
    Cell Significance Index: -1.2200
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0618
    Cell Significance Index: -1.2400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0793
    Cell Significance Index: -8.1100
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: -0.0794
    Cell Significance Index: -0.9100
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -0.0806
    Cell Significance Index: -0.8400
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.0824
    Cell Significance Index: -1.0600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0827
    Cell Significance Index: -5.5600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0846
    Cell Significance Index: -4.7500
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.0848
    Cell Significance Index: -1.0700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0879
    Cell Significance Index: -6.5500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0943
    Cell Significance Index: -5.7800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0987
    Cell Significance Index: -3.1600
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1014
    Cell Significance Index: -2.1900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1040
    Cell Significance Index: -5.4000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1233
    Cell Significance Index: -7.7700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1243
    Cell Significance Index: -3.9600
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1269
    Cell Significance Index: -2.5100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1292
    Cell Significance Index: -4.2300
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.1327
    Cell Significance Index: -2.7700
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: -0.1519
    Cell Significance Index: -1.7200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1536
    Cell Significance Index: -5.3800
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.1552
    Cell Significance Index: -1.9900

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:** 1. **Potassium Channel Function:** Kv11.1 is a voltage-gated potassium channel that regulates the flow of potassium ions across the plasma membrane. This channel is essential for the repolarization of cardiac muscle cells during the action potential, allowing the heart to return to its resting state. 2. **Cardiac Conduction:** Kv11.1 channels are critical for the regulation of cardiac conduction, ensuring the proper transmission of electrical impulses through the heart. 3. **Voltage-Gated Activity:** Kv11.1 channels exhibit voltage-gated activity, meaning their activity is dependent on the membrane potential. This allows for precise regulation of potassium ion flow in response to changes in the electrical state of the cell. 4. **Regulatory Interactions:** Kv11.1 channels interact with various regulatory proteins, including scaffold proteins, ubiquitin protein ligases, and transcription factors, to modulate their activity and ensure proper cardiac function. **Pathways and Functions:** 1. **Cardiac Muscle Contraction:** Kv11.1 channels play a critical role in the contraction of cardiac muscle cells by regulating the repolarization phase of the action potential. 2. **Cardiac Conduction:** Kv11.1 channels are essential for the regulation of cardiac conduction, ensuring the proper transmission of electrical impulses through the heart. 3. **Potassium Ion Homeostasis:** Kv11.1 channels help maintain potassium ion homeostasis by regulating the flow of potassium ions across the plasma membrane. 4. **Neuronal Function:** Kv11.1 channels are also expressed in certain neuronal cells, including GABAergic amacrine cells, where they may play a role in regulating neuronal excitability. **Clinical Significance:** 1. **Arrhythmias:** Mutations in the KCNH2 gene have been associated with various cardiac arrhythmias, including long QT syndrome type 1 (LQTS1), a condition characterized by abnormal prolongation of the QT interval on the electrocardiogram. 2. **Heart Failure:** Kv11.1 channels may play a role in the development of heart failure, as impaired cardiac conduction and repolarization can contribute to the progression of the disease. 3. **Neuromuscular Disorders:** Kv11.1 channels may also be involved in the pathophysiology of certain neuromuscular disorders, such as myotonia congenita, a condition characterized by muscle stiffness and delayed relaxation. In conclusion, the KCNH2 gene and its associated Kv11.1 channel play a critical role in regulating cardiac conduction and potassium channel activity. Understanding the function and regulation of this channel is essential for the development of novel therapeutic strategies for the treatment of cardiac arrhythmias and other related disorders.

Genular Protein ID: 3718779724

Symbol: KCNH2_HUMAN

Name: Eag homolog

UniProtKB Accession Codes:

Q12809 A5H1P7 C4PFH9 D3DX04 O75418 O75680 Q708S9 Q9BT72 Q9BUT7 Q9H3P0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 2 CORUM 1 CTD 1 ChEBI 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 2 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 55 DrugCentral 1 EMBL 29 EMDB 4 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 37 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 11 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 14 PDBsum 14 PIR 1 PRINTS 2 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 Pumba 1 RNAct 1 Reactome 2 RefSeq 4 Rhea 1 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8159766

Title: A family of potassium channel genes related to eag in Drosophila and mammals.

PubMed ID: 8159766

DOI: 10.1073/pnas.91.8.3438

PubMed ID: 9600240

Title: Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome.

PubMed ID: 9600240

DOI: 10.1007/s004390050717

PubMed ID: 11374908

Title: Isolation of novel heart-specific genes using the BodyMap database.

PubMed ID: 11374908

DOI: 10.1006/geno.2001.6527

PubMed ID: 12431979

Title: Cell cycle-dependent expression of HERG1 and HERG1B isoforms in tumor cells.

PubMed ID: 12431979

DOI: 10.1074/jbc.m210789200

PubMed ID: 18559421

Title: Identification of a posttranslational mechanism for the regulation of hERG1 K+ channel expression and hERG1 current density in tumor cells.

PubMed ID: 18559421

DOI: 10.1128/mcb.00304-08

PubMed ID: 19412172

Title: A primate-specific, brain isoform of KCNH2 affects cortical physiology, cognition, neuronal repolarization and risk of schizophrenia.

PubMed ID: 19412172

DOI: 10.1038/nm.1962

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 9351462

Title: Two isoforms of the mouse ether-a-go-go-related gene coassemble to form channels with properties similar to the rapidly activating component of the cardiac delayed rectifier K+ current.

PubMed ID: 9351462

DOI: 10.1161/01.res.81.5.870

PubMed ID: 9351446

Title: Electrophysiological characterization of an alternatively processed ERG K+ channel in mouse and human hearts.

PubMed ID: 9351446

DOI: 10.1161/01.res.81.5.719

PubMed ID: 10790218

Title: Analysis of the human KCNH2(HERG) gene: identification and characterization of a novel mutation Y667X associated with long QT syndrome and a non-pathological 9 bp insertion.

PubMed ID: 10790218

DOI: 10.1002/(sici)1098-1004(200005)15:5<483::aid-humu18>3.0.co;2-t

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: 9765245

Title: A K+ channel splice variant common in human heart lacks a C-terminal domain required for expression of rapidly activating delayed rectifier current.

PubMed ID: 9765245

DOI: 10.1074/jbc.273.42.27231

PubMed ID: 12063277

Title: Role of glycosylation in cell surface expression and stability of HERG potassium channels.

PubMed ID: 12063277

DOI: 10.1152/ajpheart.00008.2002

PubMed ID: 10837251

Title: Cyclic AMP regulates the HERG K(+) channel by dual pathways.

PubMed ID: 10837251

DOI: 10.1016/s0960-9822(00)00516-9

PubMed ID: 9230439

Title: A minK-HERG complex regulates the cardiac potassium current I(Kr).

PubMed ID: 9230439

DOI: 10.1038/40882

PubMed ID: 10219239

Title: MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia.

PubMed ID: 10219239

DOI: 10.1016/s0092-8674(00)80728-x

PubMed ID: 16361248

Title: Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome.

PubMed ID: 16361248

DOI: 10.1074/jbc.m511765200

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 25281747

Title: RING finger protein RNF207, a novel regulator of cardiac excitation.

PubMed ID: 25281747

DOI: 10.1074/jbc.m114.592295

PubMed ID: 26363003

Title: Regulation of the human ether-a-go-go-related gene (hERG) potassium channel by Nedd4 family interacting proteins (Ndfips).

PubMed ID: 26363003

DOI: 10.1042/bj20141282

PubMed ID: 27916661

Title: Tetrameric assembly of K(+) channels requires ER-located chaperone proteins.

PubMed ID: 27916661

DOI: 10.1016/j.molcel.2016.10.027

PubMed ID: 9845367

Title: Crystal structure and functional analysis of the HERG potassium channel N-terminus: a eukaryotic PAS domain.

PubMed ID: 9845367

DOI: 10.1016/s0092-8674(00)81635-9

PubMed ID: 22359612

Title: The S4-S5 linker acts as a signal integrator for HERG K+ channel activation and deactivation gating.

PubMed ID: 22359612

DOI: 10.1371/journal.pone.0031640

PubMed ID: 7889573

Title: A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome.

PubMed ID: 7889573

DOI: 10.1016/0092-8674(95)90358-5

PubMed ID: 8914737

Title: Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome.

PubMed ID: 8914737

DOI: 10.1002/(sici)1096-8628(19961002)65:1<27::aid-ajmg4>3.0.co;2-v

PubMed ID: 8635257

Title: Missense mutation in the pore region of HERG causes familial long QT syndrome.

PubMed ID: 8635257

DOI: 10.1161/01.cir.93.10.1791

PubMed ID: 8877771

Title: A mutation in HERG associated with notched T waves in long QT syndrome.

PubMed ID: 8877771

DOI: 10.1006/jmcc.1996.0151

PubMed ID: 9024139

Title: Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.

PubMed ID: 9024139

DOI: 10.1161/01.cir.95.3.565

PubMed ID: 9693036

Title: Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.

PubMed ID: 9693036

DOI: 10.1006/geno.1998.5361

PubMed ID: 9544837

Title: Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome.

PubMed ID: 9544837

DOI: 10.1007/s004390050690

PubMed ID: 9452080

Title: Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family.

PubMed ID: 9452080

DOI: 10.1002/humu.1380110159

PubMed ID: 10086971

Title: C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence.

PubMed ID: 10086971

DOI: 10.1161/01.cir.99.11.1464

PubMed ID: 10220144

Title: Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.

PubMed ID: 10220144

DOI: 10.1002/(sici)1098-1004(1999)13:4<301::aid-humu7>3.0.co;2-v

PubMed ID: 10187793

Title: Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation.

PubMed ID: 10187793

DOI: 10.1074/jbc.274.15.10113

PubMed ID: 10517660

Title: Characterization of a novel missense mutation in the pore of HERG in a patient with long QT syndrome.

PubMed ID: 10517660

DOI: 10.1111/j.1540-8167.1999.tb00304.x

PubMed ID: 10735633

Title: Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2.

PubMed ID: 10735633

DOI: 10.1034/j.1399-0004.2000.570206.x

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: 10862094

Title: Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects.

PubMed ID: 10862094

DOI: 10.1002/1098-1004(200006)15:6<580::aid-humu16>3.0.co;2-0

PubMed ID: 10753933

Title: The dominant negative LQT2 mutation A561V reduces wild-type HERG expression.

PubMed ID: 10753933

DOI: 10.1074/jbc.275.15.11241

PubMed ID: 11170080

Title: Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERG.

PubMed ID: 11170080

DOI: 10.1002/1096-8628(20010201)98:4<348::aid-ajmg1109>3.0.co;2-a

PubMed ID: 12062363

Title: Characterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome.

PubMed ID: 12062363

DOI: 10.1016/s0008-6363(02)00240-7

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: 12442276

Title: KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.

PubMed ID: 12442276

DOI: 10.1002/humu.9085

PubMed ID: 12354768

Title: A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency.

PubMed ID: 12354768

DOI: 10.1074/jbc.m206569200

PubMed ID: 12621127

Title: Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome.

PubMed ID: 12621127

DOI: 10.1203/01.pdr.0000059750.17002.b6

PubMed ID: 14676148

Title: Sudden death associated with short-QT syndrome linked to mutations in HERG.

PubMed ID: 14676148

DOI: 10.1161/01.cir.0000109482.92774.3a

PubMed ID: 15051636

Title: Compound mutations: a common cause of severe long-QT syndrome.

PubMed ID: 15051636

DOI: 10.1161/01.cir.0000125524.34234.13

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: 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: 15828882

Title: Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.

PubMed ID: 15828882

DOI: 10.1046/j.1540-8167.2005.40621.x

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: 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: 22314138

Title: Identification and functional characterization of the novel human ether-a-go-go-related gene (hERG) R744P mutant associated with hereditary long QT syndrome 2.

PubMed ID: 22314138

DOI: 10.1016/j.bbrc.2012.01.118

Sequence Information:

  • Length: 1159
  • Mass: 126655
  • Checksum: D03BD4F657641FBA
  • Sequence:
    • MPVRRGHVAP QNTFLDTIIR KFEGQSRKFI IANARVENCA VIYCNDGFCE LCGYSRAEVM 
QRPCTCDFLH GPRTQRRAAA QIAQALLGAE ERKVEIAFYR KDGSCFLCLV DVVPVKNEDG 
AVIMFILNFE VVMEKDMVGS PAHDTNHRGP PTSWLAPGRA KTFRLKLPAL LALTARESSV 
RSGGAGGAGA PGAVVVDVDL TPAAPSSESL ALDEVTAMDN HVAGLGPAEE RRALVGPGSP 
PRSAPGQLPS PRAHSLNPDA SGSSCSLART RSRESCASVR RASSADDIEA MRAGVLPPPP 
RHASTGAMHP LRSGLLNSTS DSDLVRYRTI SKIPQITLNF VDLKGDPFLA SPTSDREIIA 
PKIKERTHNV TEKVTQVLSL GADVLPEYKL QAPRIHRWTI LHYSPFKAVW DWLILLLVIY 
TAVFTPYSAA FLLKETEEGP PATECGYACQ PLAVVDLIVD IMFIVDILIN FRTTYVNANE 
EVVSHPGRIA VHYFKGWFLI DMVAAIPFDL LIFGSGSEEL IGLLKTARLL RLVRVARKLD 
RYSEYGAAVL FLLMCTFALI AHWLACIWYA IGNMEQPHMD SRIGWLHNLG DQIGKPYNSS 
GLGGPSIKDK YVTALYFTFS SLTSVGFGNV SPNTNSEKIF SICVMLIGSL MYASIFGNVS 
AIIQRLYSGT ARYHTQMLRV REFIRFHQIP NPLRQRLEEY FQHAWSYTNG IDMNAVLKGF 
PECLQADICL HLNRSLLQHC KPFRGATKGC LRALAMKFKT THAPPGDTLV HAGDLLTALY 
FISRGSIEIL RGDVVVAILG KNDIFGEPLN LYARPGKSNG DVRALTYCDL HKIHRDDLLE 
VLDMYPEFSD HFWSSLEITF NLRDTNMIPG SPGSTELEGG FSRQRKRKLS FRRRTDKDTE 
QPGEVSALGP GRAGAGPSSR GRPGGPWGES PSSGPSSPES SEDEGPGRSS SPLRLVPFSS 
PRPPGEPPGG EPLMEDCEKS SDTCNPLSGA FSGVSNIFSF WGDSRGRQYQ ELPRCPAPTP 
SLLNIPLSSP GRRPRGDVES RLDALQRQLN RLETRLSADM ATVLQLLQRQ MTLVPPAYSA 
VTTPGPGPTS TSPLLPVSPL PTLTLDSLSQ VSQFMACEEL PPGAPELPQE GPTRRLSLPG 
QLGALTSQPL HRHGSDPGS

Genular Protein ID: 3962558469

Symbol: A0A090N7X5_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A090N7X5

Database IDs:

ARBA 8 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 ExpressionAtlas 1 GO 5 Gene3D 3 HOGENOM 1 InterPro 7 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 2 PROSITE 2 Pfam 2 RefSeq 1 SAM 2 SMART 1 SMR 1 SUPFAM 2 VEuPathDB 1

Citations:

PubMed ID: 12690205

Title: Human chromosome 7: DNA sequence and biology.

PubMed ID: 12690205

DOI: 10.1126/science.1083423

Sequence Information:

  • Length: 819
  • Mass: 90108
  • Checksum: 6C3F360C310C178A
  • Sequence:
    • MAAPAGKASR TGALRPRAQK GRVRRAVRIS SLVAQEVLSL GADVLPEYKL QAPRIHRWTI 
LHYSPFKAVW DWLILLLVIY TAVFTPYSAA FLLKETEEGP PATECGYACQ PLAVVDLIVD 
IMFIVDILIN FRTTYVNANE EVVSHPGRIA VHYFKGWFLI DMVAAIPFDL LIFGSGSEEL 
IGLLKTARLL RLVRVARKLD RYSEYGAAVL FLLMCTFALI AHWLACIWYA IGNMEQPHMD 
SRIGWLHNLG DQIGKPYNSS GLGGPSIKDK YVTALYFTFS SLTSVGFGNV SPNTNSEKIF 
SICVMLIGSL MYASIFGNVS AIIQRLYSGT ARYHTQMLRV REFIRFHQIP NPLRQRLEEY 
FQHAWSYTNG IDMNAVLKGF PECLQADICL HLNRSLLQHC KPFRGATKGC LRALAMKFKT 
THAPPGDTLV HAGDLLTALY FISRGSIEIL RGDVVVAILG KNDIFGEPLN LYARPGKSNG 
DVRALTYCDL HKIHRDDLLE VLDMYPEFSD HFWSSLEITF NLRDTNMIPG SPGSTELEGG 
FSRQRKRKLS FRRRTDKDTE QPGEVSALGP GRAGAGPSSR GRPGGPWGES PSSGPSSPES 
SEDEGPGRSS SPLRLVPFSS PRPPGEPPGG EPLMEDCEKS SDTCNPLSGA FSGVSNIFSF 
WGDSRGRQYQ ELPRCPAPTP SLLNIPLSSP GRRPRGDVES RLDALQRQLN RLETRLSADM 
ATVLQLLQRQ MTLVPPAYSA VTTPGPGPTS TSPLLPVSPL PTLTLDSLSQ VSQFMACEEL 
PPGAPELPQE GPTRRLSLPG QLGALTSQPL HRHGSDPGS

Genular Protein ID: 3688181182

Symbol: A0A090N7W1_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A090N7W1

Database IDs:

ARBA 17 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 2 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 4 GO 2 Gene3D 4 InterPro 11 NCBI Taxonomy 1 NCBIfam 1 OrthoDB 1 PANTHER 2 PRINTS 2 PROSITE 6 Pfam 2 RefSeq 1 SAM 2 SMART 2 SMR 1 SUPFAM 3

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 12690205

Title: Human chromosome 7: DNA sequence and biology.

PubMed ID: 12690205

DOI: 10.1126/science.1083423

Sequence Information:

  • Length: 888
  • Mass: 97542
  • Checksum: 2C9582876D520E39
  • Sequence:
    • MPVRRGHVAP QNTFLDTIIR KFEGQSRKFI IANARVENCA VIYCNDGFCE LCGYSRAEVM 
QRPCTCDFLH GPRTQRRAAA QIAQALLGAE ERKVEIAFYR KDGSCFLCLV DVVPVKNEDG 
AVIMFILNFE VVMEKDMVGS PAHDTNHRGP PTSWLAPGRA KTFRLKLPAL LALTARESSV 
RSGGAGGAGA PGAVVVDVDL TPAAPSSESL ALDEVTAMDN HVAGLGPAEE RRALVGPGSP 
PRSAPGQLPS PRAHSLNPDA SGSSCSLART RSRESCASVR RASSADDIEA MRAGVLPPPP 
RHASTGAMHP LRSGLLNSTS DSDLVRYRTI SKIPQITLNF VDLKGDPFLA SPTSDREIIA 
PKIKERTHNV TEKVTQVLSL GADVLPEYKL QAPRIHRWTI LHYSPFKAVW DWLILLLVIY 
TAVFTPYSAA FLLKETEEGP PATECGYACQ PLAVVDLIVD IMFIVDILIN FRTTYVNANE 
EVVSHPGRIA VHYFKGWFLI DMVAAIPFDL LIFGSGSEEL IGLLKTARLL RLVRVARKLD 
RYSEYGAAVL FLLMCTFALI AHWLACIWYA IGNMEQPHMD SRIGWLHNLG DQIGKPYNSS 
GLGGPSIKDK YVTALYFTFS SLTSVGFGNV SPNTNSEKIF SICVMLIGSL MYASIFGNVS 
AIIQRLYSGT ARYHTQMLRV REFIRFHQIP NPLRQRLEEY FQHAWSYTNG IDMNAVLKGF 
PECLQADICL HLNRSLLQHC KPFRGATKGC LRALAMKFKT THAPPGDTLV HAGDLLTALY 
FISRGSIEIL RGDVVVAILG MGWGAGTGLE MPSAASRGAS LLNMQSLGLW TWDCLQGHWA 
PLIHLNSGPP SGAMERSPTW GEAAELWGSH ILLPFRIRHK QTLFASLK

Genular Protein ID: 177037351

Symbol: Q15BH2_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q15BH2

Database IDs:

ARBA 17 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 2 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 5 Gene3D 4 InterPro 11 KEGG 1 NCBI Taxonomy 1 NCBIfam 1 OrthoDB 1 PANTHER 2 PRINTS 2 PROSITE 6 PeptideAtlas 1 Pfam 3 RefSeq 2 SAM 2 SMART 2 SMR 1 SUPFAM 3

Citations:

PubMed ID: 16723117

Title: Template switching within exons 3 and 4 of KV11.1 (HERG) gives rise to a 5' truncated cDNA.

PubMed ID: 16723117

DOI: 10.1016/j.bbrc.2006.05.032

Sequence Information:

  • Length: 1159
  • Mass: 126601
  • Checksum: 0EEB67221C8799A2
  • Sequence:
    • MPVRRGHVAP QSTFLDTIIR KFEGQSRKFI IANARVENCA VIYCNDGFCE LCGYSRAEVM 
QRPCTCDFLH GPRTQRRAAA QIAQALLGAE ERKVEIAFYR KDGSCFLCLV DVVPVKNEDG 
AVIMFILNFE VVMEKDMVGS PAHDTNHRGP PTSWLAPGRA KTFRLKLPAL LALTARESSV 
RSGGAGGAGA PGAVVVDVDL TPAAPSSESL ALDEVTAMDN HVAGLGPAEE RRALVGPGSP 
PRSAPGQLPS PRAHSLNPDA SGSSCSLART RSRESCASVR RASSADDIEA MRAGVLPPPP 
RHASTGAMHP LRSGLLNSTS DSDLVRYRTI SKIPQITLNF VDLKGDPFLA SPTSDREIIA 
PKIKERTHNV TEKVTQVLSL GADVLPEYKL QAPRIHRWTI LHYSPFKAVW DWLILLLVIY 
TAVFTPYSAA FLLKETEEGP PATECGYACQ PLAVVDLIVD IMFIVDILIN FRTTYVNANE 
EVVSHPGRIA VHYFKGWFLI DMVAAIPFDL LIFGSGSEEL IGLLKTARLL RLVRVARKLD 
RYSEYGAAVL FLLMCTFALI AHWLACIWYA IGNMEQPHMD SRIGWLHNLG DQIGKPYNSS 
GLGGPSIKDK YVTALYFTFS SLTSVGFGNV SPNTNSEKIF SICVMLIGSL MYASIFGNVS 
AIIQRLYSGT ARYHTQMLRV REFIRFHQIP NPLRQRLEEY FQHAWSYTNG IDMNAVLKGF 
PECLQADICL HLNRSLLQHC KPFRGATKGC LRALAMKFKT THAPPGDTLV HAGDLLTALY 
FISRGSIEIL RGDVVVAILG KNDIFGEPLN LYARPGKSNG DVRALTYCDL HKIHRDDLLE 
VLDMYPEFSD HFWSSLEITF NLRDTNMIPG SPGSTELEGG FSRQRKRKLS FRRRTDTDTE 
QPGEVSALGP GRAGAGPSSR GRPGGPWGES PSSGPSSPES SEDEGPGRSS SPLRLVPFSS 
PRPPGEPPGG EPLMEDCEKS SDTCNPLSGA FSGVSNIFSF WGDSRGRQYQ ELPRCPAPTP 
SLLNIPLSSP GRRPRGDVES RLDALQRQLN RLETRLSADM ATVLQLLQRQ MTLVPPAYSA 
VTTPGPGPTS TSPLLPVSPL PTLTLDSLSQ VSQFMACEEL PPGAPELPQE GPTRRLSLPG 
QLGALTSQPL HRHGSDPGS

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.