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

Gene ID: 3742, updated on 13-Feb-2019

Summary

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:ENSG00000130035 MIM:176257
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

Genomic context

See KCNA6 in Genome Data Viewer
Location:
12p13.32
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (4806877..4851927)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (4918342..4961093)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene GALNT8 antisense upstream 1 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 8 Neighboring gene uncharacterized LOC105369614 Neighboring gene potassium voltage-gated channel subfamily A member 1 Neighboring gene uncharacterized LOC100507560

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • O-linked glycosylation, organism-specific biosystem (from REACTOME)
    O-linked glycosylation, organism-specific biosystemO-glycosylation is an important post-translational modification (PTM) required for correct functioning of many proteins (Van den Steen et al. 1998, Moremen et al. 2012). The O-glycosylation of protei...
  • O-linked glycosylation of mucins, organism-specific biosystem (from REACTOME)
    O-linked glycosylation of mucins, organism-specific biosystemMucins are a family of high molecular weight, heavily glycosylated proteins (glycoconjugates) produced by epithelial tissues in most metazoa. Mucins' key characteristic is their ability to form gels...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Potassium Channels, organism-specific biosystem (from REACTOME)
    Potassium Channels, organism-specific biosystemPotassium channels are tetrameric ion channels that are widely distributed and are found in all cell types. Potassium channels control resting membrane potential in neurons, contribute to regulation ...
  • Voltage gated Potassium channels, organism-specific biosystem (from REACTOME)
    Voltage gated Potassium channels, organism-specific biosystemVoltage-gated K+ channels (Kv) determine the excitability of heart, brain and skeletal muscle cells. Kv form octameric channel with alpha subunits that forms the pore of the channel and associated be...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25134

Gene Ontology Provided by GOA

Function Evidence Code Pubs
delayed rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
delayed rectifier potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
voltage-gated potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
potassium ion transport TAS
Traceable Author Statement
more info
PubMed 
protein homooligomerization IEA
Inferred from Electronic Annotation
more info
 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axon terminus IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
integral component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
potassium channel complex ISS
Inferred from Sequence or Structural Similarity
more info
 
voltage-gated potassium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated potassium channel complex ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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)

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_002235.3NP_002226.1  potassium voltage-gated channel subfamily A member 6

    See identical proteins and their annotated locations for NP_002226.1

    Status: REVIEWED

    Source sequence(s)
    AC005833, AI369246
    Consensus CDS
    CCDS8534.1
    UniProtKB/Swiss-Prot
    P17658
    Related
    ENSP00000408321.1, ENST00000433855.1
    Conserved Domains (2) summary
    pfam00520
    Location:259468
    Ion_trans; Ion transport protein
    pfam02214
    Location:43132
    BTB_2; BTB/POZ domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    4806877..4851927
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    P17658
    Conserved Domains (2) summary
    pfam00520
    Location:259468
    Ion_trans; Ion transport protein
    pfam02214
    Location:43132
    BTB_2; BTB/POZ domain
  2. XM_011520955.2XP_011519257.1  potassium voltage-gated channel subfamily A member 6 isoform X1

    See identical proteins and their annotated locations for XP_011519257.1

    UniProtKB/Swiss-Prot
    P17658
    Conserved Domains (2) summary
    pfam00520
    Location:259468
    Ion_trans; Ion transport protein
    pfam02214
    Location:43132
    BTB_2; BTB/POZ domain
  3. XM_005253686.3XP_005253743.1  potassium voltage-gated channel subfamily A member 6 isoform X1

    See identical proteins and their annotated locations for XP_005253743.1

    UniProtKB/Swiss-Prot
    P17658
    Conserved Domains (2) summary
    pfam00520
    Location:259468
    Ion_trans; Ion transport protein
    pfam02214
    Location:43132
    BTB_2; BTB/POZ domain
  4. XM_017019272.1XP_016874761.1  potassium voltage-gated channel subfamily A member 6 isoform X1

    UniProtKB/Swiss-Prot
    P17658
    Conserved Domains (2) summary
    pfam00520
    Location:259468
    Ion_trans; Ion transport protein
    pfam02214
    Location:43132
    BTB_2; BTB/POZ domain
  5. XM_017019270.1XP_016874759.1  potassium voltage-gated channel subfamily A member 6 isoform X1

    UniProtKB/Swiss-Prot
    P17658
    Conserved Domains (2) summary
    pfam00520
    Location:259468
    Ion_trans; Ion transport protein
    pfam02214
    Location:43132
    BTB_2; BTB/POZ domain
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