Details for: KCNA2

Gene ID: 3737

Symbol: KCNA2

Ensembl ID: ENSG00000177301

Description: potassium voltage-gated channel subfamily A member 2

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 2.47
    Marker Score: 2488.5
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.61
    Marker Score: 1173
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.49
    Marker Score: 54796
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.45
    Marker Score: 2239
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.44
    Marker Score: 88842
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 1.39
    Marker Score: 2879
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.34
    Marker Score: 28583
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.29
    Marker Score: 12128
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.28
    Marker Score: 5313
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.27
    Marker Score: 859
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.25
    Marker Score: 2374
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.21
    Marker Score: 10360
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.19
    Marker Score: 2421
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.18
    Marker Score: 489
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.17
    Marker Score: 705
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4820
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.13
    Marker Score: 22520
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.11
    Marker Score: 16632
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.1
    Marker Score: 505
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.05
    Marker Score: 6990
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.03
    Marker Score: 9828
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1
    Marker Score: 10348
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71831
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48055
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1
    Marker Score: 15588
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 511
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.99
    Marker Score: 37495
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 464
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.97
    Marker Score: 3753
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.95
    Marker Score: 7275
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.94
    Marker Score: 376
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5351
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 328
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.89
    Marker Score: 3613
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5290
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1265
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 711
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 398
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.73
    Marker Score: 464
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.61
    Marker Score: 528
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.59
    Marker Score: 474
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.59
    Marker Score: 599
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.58
    Marker Score: 279
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 175
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.53
    Marker Score: 235
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.52
    Marker Score: 274.5
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.5
    Marker Score: 158
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.49
    Marker Score: 157
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.48
    Marker Score: 201
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.45
    Marker Score: 297
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.44
    Marker Score: 544
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.42
    Marker Score: 115
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.4
    Marker Score: 1844
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.38
    Marker Score: 1592.5
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.37
    Marker Score: 2204
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.37
    Marker Score: 133
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.36
    Marker Score: 559
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.35
    Marker Score: 268
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.35
    Marker Score: 480.5
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.33
    Marker Score: 167
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.29
    Marker Score: 335
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 0.27
    Marker Score: 159
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.26
    Marker Score: 611
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.25
    Marker Score: 280
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.25
    Marker Score: 91
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.24
    Marker Score: 71
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.24
    Marker Score: 302
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.24
    Marker Score: 489
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.23
    Marker Score: 555
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.23
    Marker Score: 65
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 0.23
    Marker Score: 1224
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.23
    Marker Score: 72
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.23
    Marker Score: 941
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.22
    Marker Score: 222
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 75
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.2
    Marker Score: 118
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.2
    Marker Score: 51
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.19
    Marker Score: 354
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.19
    Marker Score: 334
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.19
    Marker Score: 47
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.19
    Marker Score: 58
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.18
    Marker Score: 172
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.18
    Marker Score: 302
  • Cell Name: monocyte (CL0000576)
    Fold Change: 0.18
    Marker Score: 230
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 43
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.17
    Marker Score: 193
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.17
    Marker Score: 60
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.16
    Marker Score: 192
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.15
    Marker Score: 436
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.15
    Marker Score: 87
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 0.15
    Marker Score: 793
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.15
    Marker Score: 74
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.14
    Marker Score: 4845
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.14
    Marker Score: 81
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 0.13
    Marker Score: 3448
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.13
    Marker Score: 231
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.13
    Marker Score: 61

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Other Information

**Key characteristics**: * The KCNA2 gene is located on chromosome 19q13.1. * The protein is a transmembrane protein with a predicted molecular weight of approximately 120 kDa. * The protein is a member of the potassium voltage-gated channel subfamily A. * The protein is expressed in high levels in the blood vessel endothelial cell, colon goblet cell, pvalb GABAergic cortical interneuron, L5 extratelencephalic projecting glutamatergic cortical neuron, L2/3-6 intratelencephalic projecting glutamatergic neuron, kidney proximal convoluted tubule epithelial cell, astrocyte of the cerebral cortex, near-projecting glutamatergic cortical neuron, chandelier pvalb GABAergic cortical interneuron, and intestinal crypt stem cell of small intestine. **Pathways and functions**: * The KCNA2 gene is involved in the regulation of cerebral cortex development, corpus callosum development, and delayed rectifier potassium channel activity. * The protein is also involved in the regulation of the presynaptic and postsynaptic membrane potential of neurons. * The protein is involved in the regulation of the optic nerve structural organization. * The KCNA2 gene is also involved in the regulation of circadian sleep/wake cycle, non-REM sleep, and dopamine secretion. * The protein is involved in the sensory perception of pain. * The KCNA2 gene is a key regulator of voltage-gated monoatomic ion channel activity, which is involved in the regulation of neuronal action potential, presynaptic membrane potential, and postsynaptic membrane potential. **Clinical significance**: Mutations in the KCNA2 gene have been linked to a number of neurological disorders, including epilepsy, schizophrenia, and autism. These disorders are characterized by abnormal neuronal activity and connectivity, which is thought to be due to defects in the function of the KCNA2 gene.

Genular Protein ID: 1853824512

Symbol: KCNA2_HUMAN

Name: Potassium voltage-gated channel subfamily A member 2

UniProtKB Accession Codes:

P16389 A0A024R0D3 A8K1Z6 Q86XG6

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 4 DrugCentral 1 EMBL 7 Ensembl 7 ExpressionAtlas 1 GO 35 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 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 3 MalaCards 1 MassIVE 1 MaxQB 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 1 RefSeq 8 SAM 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 3 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 19912772

Title: Human potassium channel genes: molecular cloning and functional expression.

PubMed ID: 19912772

DOI: 10.1016/1044-7431(90)90004-n

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

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: 8495559

Title: Heteromultimeric assembly of human potassium channels. Molecular basis of a transient outward current?

PubMed ID: 8495559

DOI: 10.1161/01.res.72.6.1326

PubMed ID: 10624965

Title: Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels.

PubMed ID: 10624965

DOI: 10.1016/s0896-6273(00)81049-1

PubMed ID: 11211111

Title: Role of receptor protein tyrosine phosphatase alpha (RPTPalpha) and tyrosine phosphorylation in the serotonergic inhibition of voltage-dependent potassium channels.

PubMed ID: 11211111

DOI: 10.1007/s004240000406

PubMed ID: 11086297

Title: Subunit composition and novel localization of K+ channels in spinal cord.

PubMed ID: 11086297

DOI: 10.1002/1096-9861(20000101)429:1<166::aid-cne13>3.0.co;2-y

PubMed ID: 16473933

Title: Voltage-gated ion channels in the axon initial segment of human cortical pyramidal cells and their relationship with chandelier cells.

PubMed ID: 16473933

DOI: 10.1073/pnas.0511197103

PubMed ID: 17917103

Title: Ionic channel function in action potential generation: current perspective.

PubMed ID: 17917103

DOI: 10.1007/s12035-007-8001-0

PubMed ID: 19713757

Title: The molecular basis for the actions of Kvbeta1.2 on the opening and closing of the Kv1.2 delayed rectifier channel.

PubMed ID: 19713757

DOI: 10.4161/chan.3.5.9558

PubMed ID: 20220134

Title: Biochemical characterization of kappaM-RIIIJ, a Kv1.2 channel blocker: evaluation of cardioprotective effects of kappaM-conotoxins.

PubMed ID: 20220134

DOI: 10.1074/jbc.m109.068486

PubMed ID: 22649228

Title: Altered distribution of juxtaparanodal kv1.2 subunits mediates peripheral nerve hyperexcitability in type 2 diabetes mellitus.

PubMed ID: 22649228

DOI: 10.1523/jneurosci.0719-12.2012

PubMed ID: 23769686

Title: Activation of lysophosphatidic acid receptor by gintonin inhibits Kv1.2 channel activity: involvement of tyrosine kinase and receptor protein tyrosine phosphatase alpha.

PubMed ID: 23769686

DOI: 10.1016/j.neulet.2013.05.048

PubMed ID: 25477152

Title: Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy.

PubMed ID: 25477152

DOI: 10.1111/cge.12542

PubMed ID: 25751627

Title: De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.

PubMed ID: 25751627

DOI: 10.1038/ng.3239

PubMed ID: 27864847

Title: Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes.

PubMed ID: 27864847

DOI: 10.1002/humu.23149

PubMed ID: 34576077

Title: A novel KCNA2 variant in a patient with non-progressive congenital ataxia and epilepsy: functional characterization and sensitivity to 4-aminopyridine.

PubMed ID: 34576077

DOI: 10.3390/ijms22189913

Sequence Information:

  • Length: 499
  • Mass: 56717
  • Checksum: 4B03F1B46A826C39
  • Sequence:
    • MTVATGDPAD EAAALPGHPQ DTYDPEADHE CCERVVINIS GLRFETQLKT LAQFPETLLG 
DPKKRMRYFD PLRNEYFFDR NRPSFDAILY YYQSGGRLRR PVNVPLDIFS EEIRFYELGE 
EAMEMFREDE GYIKEEERPL PENEFQRQVW LLFEYPESSG PARIIAIVSV MVILISIVSF 
CLETLPIFRD ENEDMHGSGV TFHTYSNSTI GYQQSTSFTD PFFIVETLCI IWFSFEFLVR 
FFACPSKAGF FTNIMNIIDI VAIIPYFITL GTELAEKPED AQQGQQAMSL AILRVIRLVR 
VFRIFKLSRH SKGLQILGQT LKASMRELGL LIFFLFIGVI LFSSAVYFAE ADERESQFPS 
IPDAFWWAVV SMTTVGYGDM VPTTIGGKIV GSLCAIAGVL TIALPVPVIV SNFNYFYHRE 
TEGEEQAQYL QVTSCPKIPS SPDLKKSRSA STISKSDYME IQEGVNNSNE DFREENLKTA 
NCTLANTNYV NITKMLTDV

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. For the full schema, download it here.