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

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: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Roles of KCNA2 in Neurological Diseases: from Physiology to Pathology.
Title: Roles of KCNA2 in Neurological Diseases: from Physiology to Pathology.
KCNA2 IgG autoimmunity in neuropsychiatric diseases.
Title: KCNA2 IgG autoimmunity in neuropsychiatric diseases.
Two epilepsy-associated variants in KCNA2 (KV 1.2) at position H310 oppositely affect channel functional expression.
Title: Two epilepsy-associated variants in KCNA2 (K(V) 1.2) at position H310 oppositely affect channel functional expression.
An epilepsy-associated KV1.2 charge-transfer-center mutation impairs KV1.2 and KV1.4 trafficking.
Title: An epilepsy-associated K(V)1.2 charge-transfer-center mutation impairs K(V)1.2 and K(V)1.4 trafficking.
Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes.
Title: Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes.
Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders.
Title: Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders.
these results suggest that Notch activation enhances CaSR-mediated increases in [Ca(2+)]cyt by enhancing store-operated Ca(2+) entry and inhibits KCNA5/KV1.5 and KCNA2/KV1.2, ultimately leading to voltage-activated Ca(2+) entry.
Title: Notch enhances Ca(2+) entry by activating calcium-sensing receptors and inhibiting voltage-gated K(+) channels.
recurrent de novo variants in the paralogous PVP motif of KCNA2 have previously been shown to abolish channel function and also cause early-onset epileptic encephalopathy. Importantly, this report extends the range of phenotypes associated with KCNA1 variants to include epileptic encephalopathy when the PVP motif is involved.
Title: De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.
We identified 3 patients with KCNA2 mutations with novel characteristics
Title: Novel clinical manifestations in patients with KCNA2 mutations.
study indicates well represented genotype-phenotype associations between three subgroups of patients with KCNA2 encephalopathy according to the electrophysiological features of the mutations.
Title: Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.

Submit: New GeneRIF Correction See all GeneRIFs (37)

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

Associated conditions

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

KCNA2_869 (e-PCR)
- UniSTS:277404

KCNA2_V168 (e-PCR)
- UniSTS:277404

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	ISS Inferred from Sequence or Structural Similarity more info
enables kinesin binding	IEA Inferred from Electronic Annotation more info
enables outward rectifier potassium channel activity	IEA Inferred from Electronic Annotation more info
enables potassium channel activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables voltage-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA Inferred from Electronic Annotation more info
enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IEA Inferred from Electronic Annotation more info
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
enables voltage-gated potassium channel activity	ISS Inferred from Sequence or Structural Similarity more info

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

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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

NG_027997.2 RefSeqGene

Range

30117..42895

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001204269.2 → NP_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:162 → 303

Ion_trans; Ion transport protein

pfam02214
Location:35 → 126

BTB_2; BTB/POZ domain
NM_004974.4 → NP_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:33 → 159

BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily

pfam00520
Location:162 → 420

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

110593580..110631440 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011541398.3 → XP_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:33 → 159

BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily

pfam00520
Location:162 → 420

Ion_trans; Ion transport protein
XM_011541400.3 → XP_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:33 → 159

BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily

pfam00520
Location:162 → 420

Ion_trans; Ion transport protein
XM_017001213.2 → XP_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:33 → 159

BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily

pfam00520
Location:162 → 420

Ion_trans; Ion transport protein
XM_011541396.3 → XP_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:33 → 159

BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily

pfam00520
Location:162 → 420

Ion_trans; Ion transport protein

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

110608515..110647421 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

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

UniProtKB/Swiss-Prot

A0A024R0D3, A8K1Z6, P16389, Q86XG6
XM_054336430.1 → XP_054192405.1 potassium voltage-gated channel subfamily A member 2 isoform X1

UniProtKB/Swiss-Prot

A0A024R0D3, A8K1Z6, P16389, Q86XG6
XM_054336434.1 → XP_054192409.1 potassium voltage-gated channel subfamily A member 2 isoform X1

UniProtKB/Swiss-Prot

A0A024R0D3, A8K1Z6, P16389, Q86XG6
XM_054336432.1 → XP_054192407.1 potassium voltage-gated channel subfamily A member 2 isoform X1

UniProtKB/Swiss-Prot

A0A024R0D3, A8K1Z6, P16389, Q86XG6
XM_054336431.1 → XP_054192406.1 potassium voltage-gated channel subfamily A member 2 isoform X1

UniProtKB/Swiss-Prot

A0A024R0D3, A8K1Z6, P16389, Q86XG6