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KCNA2 potassium voltage-gated channel subfamily A member 2 [ Homo sapiens (human) ]

Gene ID: 3737, updated on 19-Sep-2024

Summary

Official Symbol
KCNA2provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily A member 2provided by HGNC
Primary source
HGNC:HGNC:6220
See related
Ensembl:ENSG00000177301 MIM:176262; AllianceGenome:HGNC:6220
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
HK4; MK2; HBK5; NGK1; RBK2; DEE32; HUKIV; KV1.2; EIEE32
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, members of which allow nerve cells to efficiently repolarize following an action potential. The coding region of this gene is intronless, and the gene is clustered with genes KCNA3 and KCNA10 on chromosome 1. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 3.3), thyroid (RPKM 0.8) and 3 other tissues See more
Orthologs
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Genomic context

See KCNA2 in Genome Data Viewer
Location:
1p13.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (110593580..110631440, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (110608515..110647421, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (111136202..111174062, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904292 Neighboring gene potassium voltage-gated channel subfamily A member 10 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1175 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1472 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1474 Neighboring gene potassium voltage-gated channel subfamily A member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1176 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1177 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1178 Neighboring gene uncharacterized LOC107985174 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1179

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC50217

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in action potential IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cerebral cortex development IEA
Inferred from Electronic Annotation
more info
 
involved_in corpus callosum development IEA
Inferred from Electronic Annotation
more info
 
involved_in neuronal action potential ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in optic nerve structural organization IEA
Inferred from Electronic Annotation
more info
 
involved_in potassium ion export across plasma membrane IEA
Inferred from Electronic Annotation
more info
 
involved_in potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in potassium ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in potassium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in potassium ion transport TAS
Traceable Author Statement
more info
PubMed 
involved_in protein homooligomerization IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of circadian sleep/wake cycle, non-REM sleep IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of dopamine secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of postsynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of presynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
 
involved_in sensory perception of pain ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in axon ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in axon initial segment IEA
Inferred from Electronic Annotation
more info
 
is_active_in axon terminus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in axon terminus ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in calyx of Held IEA
Inferred from Electronic Annotation
more info
 
is_active_in dendrite IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
is_active_in juxtaparanode region of axon IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in juxtaparanode region of axon ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in lamellipodium ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in lamellipodium membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in neuronal cell body membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in paranodal junction IEA
Inferred from Electronic Annotation
more info
 
located_in perikaryon ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
located_in presynaptic membrane IEA
Inferred from Electronic Annotation
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 IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
potassium voltage-gated channel subfamily A member 2
Names
potassium channel, voltage gated shaker related subfamily A, member 2
potassium voltage-gated channel, shaker-related subfamily, member 2
voltage-gated K(+) channel HuKIV
voltage-gated potassium channel HBK5
voltage-gated potassium channel protein Kv1.2
voltage-gated potassium channel subunit Kv1.2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

Genomic

  1. NG_027997.2 RefSeqGene

    Range
    30117..42895
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001204269.2NP_001191198.1  potassium voltage-gated channel subfamily A member 2 isoform b

    See identical proteins and their annotated locations for NP_001191198.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has multiple differences, compared to variant 1. These differences result in distinct 5' and 3' ends and cause translation termination at a downstream stop codon, compared to variant 1. The encoded protein (isoform b) is shorter than isoform a.
    Source sequence(s)
    AK290061, BC043564
    Consensus CDS
    CCDS55625.1
    UniProtKB/Swiss-Prot
    P16389
    Related
    ENSP00000358785.3, ENST00000369770.7
    Conserved Domains (2) summary
    pfam00520
    Location:162303
    Ion_trans; Ion transport protein
    pfam02214
    Location:35126
    BTB_2; BTB/POZ domain
  2. NM_004974.4NP_004965.1  potassium voltage-gated channel subfamily A member 2 isoform a

    See identical proteins and their annotated locations for NP_004965.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer protein (isoform a).
    Source sequence(s)
    AK290061, AL365361, BC043564, BM682747
    Consensus CDS
    CCDS827.1
    UniProtKB/Swiss-Prot
    A0A024R0D3, A8K1Z6, P16389, Q86XG6
    Related
    ENSP00000314520.4, ENST00000316361.10
    Conserved Domains (2) summary
    cl38908
    Location:33159
    BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily
    pfam00520
    Location:162420
    Ion_trans; Ion transport protein

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    110593580..110631440 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541398.3XP_011539700.1  potassium voltage-gated channel subfamily A member 2 isoform X1

    See identical proteins and their annotated locations for XP_011539700.1

    UniProtKB/Swiss-Prot
    A0A024R0D3, A8K1Z6, P16389, Q86XG6
    Conserved Domains (2) summary
    cl38908
    Location:33159
    BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily
    pfam00520
    Location:162420
    Ion_trans; Ion transport protein
  2. XM_011541400.3XP_011539702.1  potassium voltage-gated channel subfamily A member 2 isoform X1

    See identical proteins and their annotated locations for XP_011539702.1

    UniProtKB/Swiss-Prot
    A0A024R0D3, A8K1Z6, P16389, Q86XG6
    Related
    ENSP00000491613.1, ENST00000638532.1
    Conserved Domains (2) summary
    cl38908
    Location:33159
    BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily
    pfam00520
    Location:162420
    Ion_trans; Ion transport protein
  3. XM_017001213.2XP_016856702.1  potassium voltage-gated channel subfamily A member 2 isoform X1

    UniProtKB/Swiss-Prot
    A0A024R0D3, A8K1Z6, P16389, Q86XG6
    Conserved Domains (2) summary
    cl38908
    Location:33159
    BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily
    pfam00520
    Location:162420
    Ion_trans; Ion transport protein
  4. XM_011541396.3XP_011539698.1  potassium voltage-gated channel subfamily A member 2 isoform X1

    See identical proteins and their annotated locations for XP_011539698.1

    UniProtKB/Swiss-Prot
    A0A024R0D3, A8K1Z6, P16389, Q86XG6
    Related
    ENSP00000487785.1, ENST00000633222.1
    Conserved Domains (2) summary
    cl38908
    Location:33159
    BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily
    pfam00520
    Location:162420
    Ion_trans; Ion transport protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    110608515..110647421 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336429.1XP_054192404.1  potassium voltage-gated channel subfamily A member 2 isoform X1

    UniProtKB/Swiss-Prot
    A0A024R0D3, A8K1Z6, P16389, Q86XG6
  2. XM_054336433.1XP_054192408.1  potassium voltage-gated channel subfamily A member 2 isoform X1

    UniProtKB/Swiss-Prot
    A0A024R0D3, A8K1Z6, P16389, Q86XG6
  3. XM_054336430.1XP_054192405.1  potassium voltage-gated channel subfamily A member 2 isoform X1

    UniProtKB/Swiss-Prot
    A0A024R0D3, A8K1Z6, P16389, Q86XG6
  4. XM_054336434.1XP_054192409.1  potassium voltage-gated channel subfamily A member 2 isoform X1

    UniProtKB/Swiss-Prot
    A0A024R0D3, A8K1Z6, P16389, Q86XG6
  5. XM_054336432.1XP_054192407.1  potassium voltage-gated channel subfamily A member 2 isoform X1

    UniProtKB/Swiss-Prot
    A0A024R0D3, A8K1Z6, P16389, Q86XG6
  6. XM_054336431.1XP_054192406.1  potassium voltage-gated channel subfamily A member 2 isoform X1

    UniProtKB/Swiss-Prot
    A0A024R0D3, A8K1Z6, P16389, Q86XG6