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KCNA6 potassium voltage-gated channel subfamily A member 6 [ Homo sapiens (human) ]

Gene ID: 3742, updated on 11-Apr-2024

Summary

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Official Symbol
KCNA6provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily A member 6provided by HGNC
Primary source
HGNC:HGNC:6225
See related
Ensembl:ENSG00000151079 MIM:176257; AllianceGenome:HGNC:6225
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
HBK2; KV1.6; PPP1R96
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. It belongs to the delayed rectifier class. The coding region of this gene is intronless, and the gene is clustered with genes KCNA1 and KCNA5 on chromosome 12. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 7.0), adrenal (RPKM 1.0) and 4 other tissues See more
Orthologs
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Genomic context

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See KCNA6 in Genome Data Viewer
Location:
12p13.32
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (4809334..4851112)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (4816353..4858155)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (4918500..4960278)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:4828687-4829682 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:4829683-4830678 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:4830679-4831674 Neighboring gene uncharacterized LOC124902863 Neighboring gene GALNT8 antisense upstream 1 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 8 Neighboring gene Sharpr-MPRA regulatory region 13428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:4872941-4873441 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:4932879-4934078 Neighboring gene MPRA-validated peak1537 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5830 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5831 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:4939415-4939916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5832 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:4962778-4963278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5833 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5834 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:4966717-4967360 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:5008995-5010194 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:5015702-5016901 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:5017696-5018452 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4155 Neighboring gene potassium voltage-gated channel subfamily A member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5835 Neighboring gene uncharacterized LOC100507560 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5836 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5837

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. De novo KCNA6 variants with attenuated K(V) 1.6 channel deactivation in patients with epilepsy. Salpietro V, et al. Epilepsia, 2023 Feb. PMID 36318112, Free PMC Article
  2. The RCK2 domain of the human BKCa channel is a calcium sensor. Yusifov T, et al. Proc Natl Acad Sci U S A, 2008 Jan 8. PMID 18162557, Free PMC Article
  3. Clinical spectrum of voltage-gated potassium channel autoimmunity. Tan KM, et al. Neurology, 2008 May 13. PMID 18474843
  4. Characterization of a voltage-activated K-channel gene cluster on human chromosome 12p13. Albrecht B, et al. Recept Channels, 1995. PMID 8821794
  5. Cloning and expression of a human voltage-gated potassium channel. A novel member of the RCK potassium channel family. Grupe A, et al. EMBO J, 1990 Jun. PMID 2347305, Free PMC Article

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. De novo KCNA6 variants with attenuated KV 1.6 channel deactivation in patients with epilepsy.
    Title: De novo KCNA6 variants with attenuated K(V) 1.6 channel deactivation in patients with epilepsy.
  2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  3. The spectrum of neurologic manifestations and neoplasms associated with voltage-gated potassium channel (VGKC) autoimmunity is broader than previously recognized
    Title: Clinical spectrum of voltage-gated potassium channel autoimmunity.
  4. analysis of how the RCK2 domain of the human BKCa channel is a calcium sensor
    Title: The RCK2 domain of the human BKCa channel is a calcium sensor.
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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ25134

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 delayed rectifier potassium channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables voltage-gated potassium channel activity TAS
Traceable Author Statement
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 potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in potassium ion transport TAS
Traceable Author Statement
more info
 PubMed 
involved_in protein homooligomerization IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in axon terminus IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  
located_in plasma membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
part_of potassium channel complex ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of voltage-gated potassium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of voltage-gated potassium channel complex ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
potassium voltage-gated channel subfamily A member 6
Names
human brain potassium channel-2
potassium channel, voltage gated shaker related subfamily A, member 6
potassium voltage-gated channel, shaker-related subfamily, member 6
protein phosphatase 1, regulatory subunit 96
voltage-gated potassium channel HBK2
voltage-gated potassium channel protein Kv1.6
voltage-gated potassium channel subunit Kv1.6

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_002235.5 → NP_002226.1  potassium voltage-gated channel subfamily A member 6

    See identical proteins and their annotated locations for NP_002226.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents the protein-coding transcript.
    Source sequence(s)
    AC005833
    Consensus CDS
    CCDS8534.1
    UniProtKB/Swiss-Prot
    P17658
    Related
    ENSP00000280684.3, ENST00000280684.4
    Conserved Domains (2) summary
    cd18407
    Location:41 → 170
    BTB_POZ_KCNA6; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily A member 6 (KCNA6)
    pfam00520
    Location:258 → 468
    Ion_trans; Ion transport protein

RNA

  1. NR_172523.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC005833, AC006063

  2. NR_172524.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC005833, AC006063

  3. NR_172525.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC005833, AC006063

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    4809334..4851112
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019271.2 → XP_016874760.1  potassium voltage-gated channel subfamily A member 6 isoform X1

    UniProtKB/Swiss-Prot
    P17658
    Conserved Domains (2) summary
    cd18407
    Location:41 → 170
    BTB_POZ_KCNA6; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily A member 6 (KCNA6)
    pfam00520
    Location:258 → 468
    Ion_trans; Ion transport protein

  2. XM_017019272.2 → XP_016874761.1  potassium voltage-gated channel subfamily A member 6 isoform X1

    UniProtKB/Swiss-Prot
    P17658
    Conserved Domains (2) summary
    cd18407
    Location:41 → 170
    BTB_POZ_KCNA6; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily A member 6 (KCNA6)
    pfam00520
    Location:258 → 468
    Ion_trans; Ion transport protein

  3. XM_017019270.2 → XP_016874759.1  potassium voltage-gated channel subfamily A member 6 isoform X1

    UniProtKB/Swiss-Prot
    P17658
    Conserved Domains (2) summary
    cd18407
    Location:41 → 170
    BTB_POZ_KCNA6; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily A member 6 (KCNA6)
    pfam00520
    Location:258 → 468
    Ion_trans; Ion transport protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    4816353..4858155
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054371974.1 → XP_054227949.1  potassium voltage-gated channel subfamily A member 6 isoform X1

    UniProtKB/Swiss-Prot
    P17658

  2. XM_054371975.1 → XP_054227950.1  potassium voltage-gated channel subfamily A member 6 isoform X1

    UniProtKB/Swiss-Prot
    P17658

  3. XM_054371973.1 → XP_054227948.1  potassium voltage-gated channel subfamily A member 6 isoform X1

    UniProtKB/Swiss-Prot
    P17658
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P17658.1 GenPept UniProtKB/Swiss-Prot:P17658

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