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

Gene ID: 3737, updated on 4-Jan-2025

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: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Developmental and epileptic encephalopathy, 32
MedGen: C4225350 OMIM: 616366 GeneReviews: Not available
Compare labs

Interactions

General gene information

Clone Names

  • MGC50217

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in action potential  
involved_in cerebral cortex development  
involved_in corpus callosum development  
involved_in neuronal action potential  
involved_in optic nerve structural organization  
involved_in potassium ion export across plasma membrane  
involved_in potassium ion transmembrane transport  
involved_in potassium ion transmembrane transport PubMed 
involved_in potassium ion transmembrane transport  
involved_in potassium ion transport PubMed 
involved_in protein homooligomerization  
involved_in regulation of circadian sleep/wake cycle, non-REM sleep  
involved_in regulation of dopamine secretion  
involved_in regulation of postsynaptic membrane potential  
involved_in regulation of presynaptic membrane potential  
involved_in sensory perception of pain  
Items 1 - 20 of 23
Component Evidence Code Pubs
located_in axon  
located_in axon initial segment  
is_active_in axon terminus  
located_in axon terminus  
located_in calyx of Held  
is_active_in dendrite  
located_in dendrite  
located_in endoplasmic reticulum membrane  
located_in glutamatergic synapse  
is_active_in juxtaparanode region of axon  
located_in juxtaparanode region of axon  
located_in lamellipodium  
located_in lamellipodium membrane  
is_active_in membrane  
located_in neuronal cell body membrane  
located_in paranodal junction  
located_in perikaryon  
located_in plasma membrane PubMed 
located_in plasma membrane  
located_in postsynaptic membrane  
located_in presynaptic membrane  
part_of voltage-gated potassium channel complex  
part_of voltage-gated potassium channel complex PubMed 
Items 1 - 20 of 23

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)

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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.

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
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