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

    Gene ID: 3742, updated on 2-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (4809334..4851112)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (4816353..4858155)
    RS_2024_09 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 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. Human Kv1.6 current displays a C-type-like inactivation when re-expressed in cos-7 cells. Guihard G, et al. Biochem Biophys Res Commun, 2003 Nov 7. PMID 14575698
    2. 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
    3. 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
    4. Clinical spectrum of voltage-gated potassium channel autoimmunity. Tan KM, et al. Neurology, 2008 May 13. PMID 18474843
    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 (18) 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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables voltage-gated potassium channel activity IMP
    Inferred from Mutant Phenotype
    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
    		 PubMed 
    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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