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KCNA7 potassium voltage-gated channel subfamily A member 7 [ Homo sapiens (human) ]

Gene ID: 3743, updated on 11-Apr-2024

Summary

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Official Symbol
KCNA7provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily A member 7provided by HGNC
Primary source
HGNC:HGNC:6226
See related
Ensembl:ENSG00000104848 MIM:176268; AllianceGenome:HGNC:6226
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HAK6; KV1.7
Summary
Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. The gene is expressed preferentially in skeletal muscle, heart and kidney. It is a candidate gene for inherited cardiac disorders. [provided by RefSeq, Jul 2008]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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Location:
19q13.33
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49067397..49072699, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (52062115..52067422, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49570654..49575956, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49557355-49557905 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49558580-49559433 Neighboring gene uncharacterized LOC124904739 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49559434-49560286 Neighboring gene chorionic gonadotropin subunit beta 7 Neighboring gene neurotrophin 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49574847-49575348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49575349-49575848 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:49577315-49577474 Neighboring gene RNA, 7SL, cytoplasmic 708, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14925 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14926 Neighboring gene small nuclear ribonucleoprotein U1 subunit 70 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49603173-49604028 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49604029-49604882 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49610053-49610894

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Block of Kv1.7 potassium currents increases glucose-stimulated insulin secretion. Finol-Urdaneta RK, et al. EMBO Mol Med, 2012 May. PMID 22438204, Free PMC Article
  2. [Distribution and significance of cSNP in KCNA7 gene as a novel NIDDM candidate gene in the population of northeast China]. Ding Q, et al. Yi Chuan, 2003 Mar. PMID 15639836
  3. Characterisation of the human voltage-gated potassium channel gene, KCNA7, a candidate gene for inherited cardiac disorders, and its exclusion as cause of progressive familial heart block I (PFHBI). Bardien-Kruger S, et al. Eur J Hum Genet, 2002 Jan. PMID 11896454
  4. Paternal age effects on sperm FOXK1 and KCNA7 methylation and transmission into the next generation. Atsem S, et al. Hum Mol Genet, 2016 Nov 15. PMID 28171595, Free PMC Article
  5. Initial isolation and analysis of the human Kv1.7 (KCNA7) gene, a member of the voltage-gated potassium channel gene family. Kashuba VI, et al. Gene, 2001 May 2. PMID 11368907

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. For FOXK1 and KCNA7, the age effect on the sperm epigenome was replicated in an independent cohort of 188 sperm samples.
    Title: Paternal age effects on sperm FOXK1 and KCNA7 methylation and transmission into the next generation.
  2. The authors conclude that K(v) 1.7 contributes to the membrane-repolarizing current of beta cells during glucose-stimulated insulin.
    Title: Block of Kv1.7 potassium currents increases glucose-stimulated insulin secretion.
  3. Observational study of genotype prevalence. (HuGE Navigator)
    Title: [Distribution and significance of cSNP in KCNA7 gene as a novel NIDDM candidate gene in the population of northeast China].
  4. Expressed in heart, but not the cause of progressive familial heart block I.
    Title: Characterisation of the human voltage-gated potassium channel gene, KCNA7, a candidate gene for inherited cardiac disorders, and its exclusion as cause of progressive familial heart block I (PFHBI).
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables delayed rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in action potential IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein homooligomerization IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
part_of voltage-gated potassium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
potassium voltage-gated channel subfamily A member 7
Names
potassium channel, voltage gated shaker related subfamily A, member 7
potassium voltage-gated channel, shaker-related subfamily, member 7
voltage-dependent potassium channel Kv1.7
voltage-gated potassium channel KCNA7
voltage-gated potassium channel subunit Kv1.7

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_031886.3 → NP_114092.2  potassium voltage-gated channel subfamily A member 7

    See identical proteins and their annotated locations for NP_114092.2

    Status: REVIEWED

    Source sequence(s)
    AC008687
    Consensus CDS
    CCDS12755.1
    UniProtKB/Swiss-Prot
    A1KYX7, Q96RP8, Q9BYS4
    UniProtKB/TrEMBL
    B2RU13
    Related
    ENSP00000221444.1, ENST00000221444.2
    Conserved Domains (4) summary
    smart00225
    Location:15 → 98
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00520
    Location:200 → 404
    Ion_trans; Ion transport protein
    pfam02214
    Location:15 → 105
    BTB_2; BTB/POZ domain
    pfam07885
    Location:319 → 398
    Ion_trans_2; Ion channel

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    49067397..49072699 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    52062115..52067422 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96RP8.1 GenPept UniProtKB/Swiss-Prot:Q96RP8

Gene LinkOut

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