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

Summary

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: mouse all
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Genomic context

Location:: 19q13.33

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (49067397..49072699, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (52062115..52067422, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (49570654..49575956, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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].
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).

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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)

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

D8S2279 (e-PCR)
- UniSTS:473907

KCNA7_873 (e-PCR)
- UniSTS:277407

KCNA7_V169 (e-PCR)
- UniSTS:277407

L18441 (e-PCR)
- UniSTS:71348

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)

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