Details for: KCNA5

Gene ID: 3741

Symbol: KCNA5

Ensembl ID: ENSG00000130037

Description: potassium voltage-gated channel subfamily A member 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: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 7.7304
    Cell Significance Index: 160.3600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 5.3034
    Cell Significance Index: 186.3600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 3.8444
    Cell Significance Index: -4.7400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 3.4298
    Cell Significance Index: 98.8200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 3.3643
    Cell Significance Index: 107.7600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 3.0210
    Cell Significance Index: 65.4500
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 2.5792
    Cell Significance Index: 62.4800
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 2.4951
    Cell Significance Index: 37.6000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 2.1409
    Cell Significance Index: 131.2600
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 1.8968
    Cell Significance Index: 14.6200
  • Cell Name: myometrial cell (CL0002366)
    Fold Change: 1.8095
    Cell Significance Index: 20.8400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.8466
    Cell Significance Index: 161.1200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.8384
    Cell Significance Index: 38.0000
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.7262
    Cell Significance Index: 6.1000
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: 0.7156
    Cell Significance Index: 10.4300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5885
    Cell Significance Index: 35.3300
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.5636
    Cell Significance Index: 6.9900
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.5234
    Cell Significance Index: 5.6900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.5059
    Cell Significance Index: 10.7800
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 0.4654
    Cell Significance Index: 4.1000
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.4438
    Cell Significance Index: 5.3800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3894
    Cell Significance Index: 42.3600
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.3742
    Cell Significance Index: 3.8600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3059
    Cell Significance Index: 30.2600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2753
    Cell Significance Index: 248.5400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.2432
    Cell Significance Index: 5.0900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1900
    Cell Significance Index: 30.9100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1808
    Cell Significance Index: 12.5000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.1382
    Cell Significance Index: 7.2600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0899
    Cell Significance Index: 32.2500
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.0860
    Cell Significance Index: 1.5200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0253
    Cell Significance Index: 1.6300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.0050
    Cell Significance Index: 3.6800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0013
    Cell Significance Index: 0.2700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0004
    Cell Significance Index: -0.2600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0015
    Cell Significance Index: -0.3100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0025
    Cell Significance Index: -4.6400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0034
    Cell Significance Index: -1.9400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0066
    Cell Significance Index: -4.8200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0069
    Cell Significance Index: -5.2100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0076
    Cell Significance Index: -4.8400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0091
    Cell Significance Index: -1.5500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0096
    Cell Significance Index: -2.7600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0101
    Cell Significance Index: -1.1600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0111
    Cell Significance Index: -5.0200
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.0126
    Cell Significance Index: -0.1700
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0149
    Cell Significance Index: -1.7000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0236
    Cell Significance Index: -0.5900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0263
    Cell Significance Index: -4.7400
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: -0.0271
    Cell Significance Index: -0.3800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0287
    Cell Significance Index: -5.7000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0297
    Cell Significance Index: -4.3100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0308
    Cell Significance Index: -4.2300
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: -0.0336
    Cell Significance Index: -0.3800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0379
    Cell Significance Index: -2.5500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0387
    Cell Significance Index: -4.7600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0410
    Cell Significance Index: -4.1900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0449
    Cell Significance Index: -5.8000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0466
    Cell Significance Index: -4.8500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0477
    Cell Significance Index: -5.6200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0555
    Cell Significance Index: -1.4600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0604
    Cell Significance Index: -4.7800
  • Cell Name: muscle cell (CL0000187)
    Fold Change: -0.0627
    Cell Significance Index: -0.6000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0628
    Cell Significance Index: -3.8600
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0658
    Cell Significance Index: -1.7600
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0663
    Cell Significance Index: -2.8800
  • Cell Name: peridermal cell (CL0000078)
    Fold Change: -0.0673
    Cell Significance Index: -0.4200
  • Cell Name: muscle fibroblast (CL1001609)
    Fold Change: -0.0686
    Cell Significance Index: -0.4200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0689
    Cell Significance Index: -1.7700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0696
    Cell Significance Index: -5.3400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0759
    Cell Significance Index: -5.6600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0774
    Cell Significance Index: -4.0200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0807
    Cell Significance Index: -1.3500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0865
    Cell Significance Index: -3.8300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0875
    Cell Significance Index: -4.9100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0947
    Cell Significance Index: -3.2900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0953
    Cell Significance Index: -3.1200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0958
    Cell Significance Index: -4.9900
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: -0.1003
    Cell Significance Index: -1.2200
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: -0.1015
    Cell Significance Index: -0.7600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1021
    Cell Significance Index: -4.8000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1036
    Cell Significance Index: -4.8300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1069
    Cell Significance Index: -3.1500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1115
    Cell Significance Index: -3.9100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1173
    Cell Significance Index: -4.4400
  • Cell Name: differentiation-committed oligodendrocyte precursor (CL4023059)
    Fold Change: -0.1188
    Cell Significance Index: -1.4100
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1278
    Cell Significance Index: -1.4500
  • Cell Name: retinal astrocyte (CL4033015)
    Fold Change: -0.1369
    Cell Significance Index: -1.3400
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: -0.1374
    Cell Significance Index: -1.9000
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1377
    Cell Significance Index: -3.9300
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1384
    Cell Significance Index: -5.0800
  • Cell Name: osteoblast (CL0000062)
    Fold Change: -0.1392
    Cell Significance Index: -1.3500
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1411
    Cell Significance Index: -3.5200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1422
    Cell Significance Index: -4.5300
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: -0.1422
    Cell Significance Index: -1.4500
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.1474
    Cell Significance Index: -2.1400
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: -0.1540
    Cell Significance Index: -1.7700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1552
    Cell Significance Index: -4.2300
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.1560
    Cell Significance Index: -1.8600
  • Cell Name: amacrine cell (CL0000561)
    Fold Change: -0.1605
    Cell Significance Index: -2.0100

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. **Channel Type:** KCNA5 encodes a voltage-gated potassium channel, specifically a delayed rectifier potassium channel. 2. **Channel Subunit:** The Kv1.5 channel is a homomultimeric channel composed of six KCNA5 subunits. 3. **Expression:** KCNA5 is widely expressed in various tissues, including cardiac muscle cells, gastrointestinal epithelial cells, and neural cells. 4. **Function:** KCNA5 channels play a critical role in regulating the electrical activity of cardiac muscle cells, particularly during the repolarization phase of the action potential. 5. **Regulation:** KCNA5 channels are regulated by various factors, including membrane hyperpolarization, calcium ion concentrations, and protein interactions. **Pathways and Functions:** 1. **Cardiac Conduction:** KCNA5 channels are essential for regulating the electrical activity of cardiac muscle cells, particularly during the repolarization phase of the action potential. 2. **Potassium Ion Homeostasis:** KCNA5 channels contribute to the regulation of potassium ion concentrations in various tissues, including the heart and gastrointestinal tract. 3. **Neuronal Signaling:** KCNA5 channels are also expressed in neural cells, where they may contribute to the regulation of neuronal signaling and synaptic transmission. 4. **Cell Proliferation:** KCNA5 channels have been implicated in the regulation of cell proliferation in various tissues, including the gastrointestinal tract. 5. **Ion Transport:** KCNA5 channels are involved in the regulation of ion transport across cell membranes, including potassium, calcium, and sodium ions. **Clinical Significance:** 1. **Long QT Syndrome:** Abnormalities in KCNA5 have been associated with long QT syndrome, a condition characterized by abnormal prolongation of the QT interval. 2. **Cardiac Arrhythmias:** KCNA5 mutations have been linked to various cardiac arrhythmias, including torsades de pointes and polymorphic ventricular tachycardia. 3. **Gastrointestinal Disorders:** KCNA5 mutations have been associated with gastrointestinal disorders, including gastrointestinal motility disorders and inflammatory bowel disease. 4. **Cancer:** KCNA5 has been implicated in the regulation of cell proliferation and cancer development in various tissues, including the gastrointestinal tract. In conclusion, the KCNA5 gene plays a critical role in regulating potassium channels in the heart and beyond. Abnormalities in KCNA5 have been associated with various cardiac and gastrointestinal disorders, highlighting the importance of this gene in human health and disease. Further research is needed to fully understand the mechanisms by which KCNA5 regulates potassium channels and its role in human disease.

Genular Protein ID: 3994311991

Symbol: KCNA5_HUMAN

Name: Potassium voltage-gated channel subfamily A member 5

UniProtKB Accession Codes:

P22460 Q4KKT8 Q4VAJ1 Q4VAJ2 Q9UDA4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEBI 2 ChEMBL 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 6 DrugCentral 1 EMBL 7 Ensembl 1 GO 46 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 4 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 2 RefSeq 1 Rhea 2 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2001794

Title: Molecular cloning and characterization of two voltage-gated K+ channel cDNAs from human ventricle.

PubMed ID: 2001794

DOI: 10.1096/fasebj.5.3.2001794

PubMed ID: 1986382

Title: Sequence and functional expression in Xenopus oocytes of a human insulinoma and islet potassium channel.

PubMed ID: 1986382

DOI: 10.1073/pnas.88.1.53

PubMed ID: 1349297

Title: Molecular cloning, characterization, and genomic localization of a human potassium channel gene.

PubMed ID: 1349297

DOI: 10.1016/0888-7543(92)90302-9

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: 8505626

Title: A rapidly activating and slowly inactivating potassium channel cloned from human heart. Functional analysis after stable mammalian cell culture expression.

PubMed ID: 8505626

DOI: 10.1085/jgp.101.4.513

PubMed ID: 11524461

Title: Altered state dependence of c-type inactivation in the long and short forms of human Kv1.5.

PubMed ID: 11524461

DOI: 10.1085/jgp.118.3.315

PubMed ID: 12130714

Title: Modulation of the human Kv1.5 channel by protein kinase C activation: role of the Kvbeta1.2 subunit.

PubMed ID: 12130714

DOI: 10.1124/jpet.102.033357

PubMed ID: 16466689

Title: A specific N-terminal residue in Kv1.5 is required for upregulation of the channel by SAP97.

PubMed ID: 16466689

DOI: 10.1016/j.bbrc.2006.01.110

PubMed ID: 16772329

Title: Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation.

PubMed ID: 16772329

DOI: 10.1093/hmg/ddl143

PubMed ID: 17261810

Title: SUMO modification regulates inactivation of the voltage-gated potassium channel Kv1.5.

PubMed ID: 17261810

DOI: 10.1073/pnas.0606702104

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 17267549

Title: Function of Kv1.5 channels and genetic variations of KCNA5 in patients with idiopathic pulmonary arterial hypertension.

PubMed ID: 17267549

DOI: 10.1152/ajpcell.00405.2006

PubMed ID: 20018952

Title: Tetramerization domain mutations in KCNA5 affect channel kinetics and cause abnormal trafficking patterns.

PubMed ID: 20018952

DOI: 10.1152/ajpcell.00464.2009

PubMed ID: 24936649

Title: Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension.

PubMed ID: 24936649

DOI: 10.1371/journal.pone.0100261

PubMed ID: 33007923

Title: Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension.

PubMed ID: 33007923

DOI: 10.3390/genes11101158

PubMed ID: 36917789

Title: Novel Loss-of-Function KCNA5 Variants in Pulmonary Arterial Hypertension.

PubMed ID: 36917789

DOI: 10.1165/rcmb.2022-0245oc

Sequence Information:

  • Length: 613
  • Mass: 67228
  • Checksum: A5B02B27F8396E3D
  • Sequence:
    • MEIALVPLEN GGAMTVRGGD EARAGCGQAT GGELQCPPTA GLSDGPKEPA PKGRGAQRDA 
DSGVRPLPPL PDPGVRPLPP LPEELPRPRR PPPEDEEEEG DPGLGTVEDQ ALGTASLHHQ 
RVHINISGLR FETQLGTLAQ FPNTLLGDPA KRLRYFDPLR NEYFFDRNRP SFDGILYYYQ 
SGGRLRRPVN VSLDVFADEI RFYQLGDEAM ERFREDEGFI KEEEKPLPRN EFQRQVWLIF 
EYPESSGSAR AIAIVSVLVI LISIITFCLE TLPEFRDERE LLRHPPAPHQ PPAPAPGANG 
SGVMAPPSGP TVAPLLPRTL ADPFFIVETT CVIWFTFELL VRFFACPSKA GFSRNIMNII 
DVVAIFPYFI TLGTELAEQQ PGGGGGGQNG QQAMSLAILR VIRLVRVFRI FKLSRHSKGL 
QILGKTLQAS MRELGLLIFF LFIGVILFSS AVYFAEADNQ GTHFSSIPDA FWWAVVTMTT 
VGYGDMRPIT VGGKIVGSLC AIAGVLTIAL PVPVIVSNFN YFYHRETDHE EPAVLKEEQG 
TQSQGPGLDR GVQRKVSGSR GSFCKAGGTL ENADSARRGS CPLEKCNVKA KSNVDLRRSL 
YALCLDTSRE TDL

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.