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

Gene ID: 3737, updated on 8-May-2016
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 HPRD:01443; MIM:176262; Vega:OTTHUMG00000011567
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; 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]
Orthologs
Location:
1p13
Exon count:
9
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (110593580..110631514, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (111136202..111174096, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378900 Neighboring gene potassium voltage-gated channel subfamily A member 10 Neighboring gene potassium voltage-gated channel subfamily A member 3 Neighboring gene uncharacterized LOC105378901

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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...
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC50217

Gene Ontology Provided by GOA

Function Evidence Code Pubs
delayed rectifier potassium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
potassium channel activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
voltage-gated potassium channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
voltage-gated potassium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
neuronal action potential ISS
Inferred from Sequence or Structural Similarity
more info
 
optic nerve structural organization IEA
Inferred from Electronic Annotation
more info
 
potassium ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
potassium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
potassium ion transport TAS
Traceable Author Statement
more info
PubMed 
protein homooligomerization IEA
Inferred from Electronic Annotation
more info
 
regulation of circadian sleep/wake cycle, non-REM sleep IEA
Inferred from Electronic Annotation
more info
 
regulation of dopamine secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
sensory perception of pain ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
axon ISS
Inferred from Sequence or Structural Similarity
more info
 
axon terminus ISS
Inferred from Sequence or Structural Similarity
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
juxtaparanode region of axon ISS
Inferred from Sequence or Structural Similarity
more info
 
lamellipodium ISS
Inferred from Sequence or Structural Similarity
more info
 
lamellipodium membrane IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
perikaryon ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
voltage-gated potassium channel complex IDA
Inferred from Direct Assay
more info
PubMed 
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

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
    30122..33321
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001204269.1NP_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, OTTHUMP00000013287, ENST00000369770, OTTHUMT00000031965
    Conserved Domains (2) summary
    pfam00520
    Location:224300
    Ion_trans; Ion transport protein
    pfam02214
    Location:35126
    BTB_2; BTB/POZ domain
  2. NM_004974.3NP_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, BC043564, BM682747
    Consensus CDS
    CCDS827.1
    UniProtKB/Swiss-Prot
    P16389
    Related
    ENSP00000314520, OTTHUMP00000234759, ENST00000316361, OTTHUMT00000392423
    Conserved Domains (3) summary
    pfam00520
    Location:224409
    Ion_trans; Ion transport protein
    pfam02214
    Location:35126
    BTB_2; BTB/POZ domain
    pfam07885
    Location:334410
    Ion_trans_2; Ion channel

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    110593580..110631514 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541398.1XP_011539700.1  

    See identical proteins and their annotated locations for XP_011539700.1

    UniProtKB/Swiss-Prot
    P16389
    Conserved Domains (3) summary
    pfam00520
    Location:224409
    Ion_trans; Ion transport protein
    pfam02214
    Location:35126
    BTB_2; BTB/POZ domain
    pfam07885
    Location:334410
    Ion_trans_2; Ion channel
  2. XM_011541397.1XP_011539699.1  

    See identical proteins and their annotated locations for XP_011539699.1

    UniProtKB/Swiss-Prot
    P16389
    Conserved Domains (3) summary
    pfam00520
    Location:224409
    Ion_trans; Ion transport protein
    pfam02214
    Location:35126
    BTB_2; BTB/POZ domain
    pfam07885
    Location:334410
    Ion_trans_2; Ion channel
  3. XM_011541400.1XP_011539702.1  

    See identical proteins and their annotated locations for XP_011539702.1

    UniProtKB/Swiss-Prot
    P16389
    Conserved Domains (3) summary
    pfam00520
    Location:224409
    Ion_trans; Ion transport protein
    pfam02214
    Location:35126
    BTB_2; BTB/POZ domain
    pfam07885
    Location:334410
    Ion_trans_2; Ion channel
  4. XM_011541399.1XP_011539701.1  

    See identical proteins and their annotated locations for XP_011539701.1

    UniProtKB/Swiss-Prot
    P16389
    Related
    ENSP00000433109, OTTHUMP00000281137, ENST00000485317, OTTHUMT00000487983
    Conserved Domains (3) summary
    pfam00520
    Location:224409
    Ion_trans; Ion transport protein
    pfam02214
    Location:35126
    BTB_2; BTB/POZ domain
    pfam07885
    Location:334410
    Ion_trans_2; Ion channel
  5. XM_011541396.1XP_011539698.1  

    See identical proteins and their annotated locations for XP_011539698.1

    UniProtKB/Swiss-Prot
    P16389
    Related
    ENSP00000487785, OTTHUMP00000234758, ENST00000633222, OTTHUMT00000128001
    Conserved Domains (3) summary
    pfam00520
    Location:224409
    Ion_trans; Ion transport protein
    pfam02214
    Location:35126
    BTB_2; BTB/POZ domain
    pfam07885
    Location:334410
    Ion_trans_2; Ion channel

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    111251494..111289381 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)