KCNA2 potassium voltage-gated channel, shaker-related subfamily, member 2 [Homo sapiens] - Gene

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Summary

Official Symbol: KCNA2provided by HGNC
Official Full Name: potassium voltage-gated channel, shaker-related subfamily, member 2provided by HGNC
Primary source: HGNC:6220
Locus tag: RP11-284N8.1
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; MGC50217
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]

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Genomic context

Location :: 1p13

Sequence :: Chromosome: 1; NC_000001.10 (111136202..111174096, complement)

See KCNA2 in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

The immunoreactivity of potassium channels (Kv1.2) was markedly reduced in the ventral roots, but normal in the dorsal roots of all the amyotrophic lateral sclerosis patients.
Title: Markedly reduced axonal potassium channel expression in human sporadic amyotrophic lateral sclerosis: an immunohistochemical study.
Using fluorimetry and gating currents, study of the Kv1.2 voltage sensor domain revealed at least two independent conformational changes in this region in response to depolarization.
Title: Fast and slow voltage sensor rearrangements during activation gating in Kv1.2 channels detected using tetramethylrhodamine fluorescence.
in addition to its known effect on pore stability, V370 of Kv1.2 is also crucial in controlling ion selectivity.
Title: Control of ionic selectivity by a pore helix residue in the Kv1.2 channel.
observe for both the open and closed conformations of the Kv1.2 that specific mutations of S4 gating-charge residues destabilize the electrostatic network between helices of the voltage sensor domain
Title: Effect of sensor domain mutations on the properties of voltage-gated ion channels: molecular dynamics studies of the potassium channel Kv1.2.
analysis of molecular basis for the actions of KVbeta1.2 on the opening and closing of the KV1.2 delayed rectifier channel
Title: The molecular basis for the actions of KVbeta1.2 on the opening and closing of the KV1.2 delayed rectifier channel.
molecular model for how the pre-gating process occurs in sequential steps: Gating charge response, movement and stabilization of the S4 voltage sensor domain, and movement near the base of the S5 region to close the pore domain.
Title: From the gating charge response to pore domain movement: initial motions of Kv1.2 dynamics under physiological voltage changes.
Data show that multivalent calix[4]arene ligands bind to the surface of voltage-dependent potassium channels (K(v)1.2 in a reversible manner.
Title: Molecular recognition and self-assembly special feature: Calix[4]arene-based conical-shaped ligands for voltage-dependent potassium channels.
Both receptor-stimulated and steady-state Kv1.2 trafficking modulated by RhoA/ROCK required the activation of dynamin as well as the ROCK effector Lim-kinase, indicating a key role for actin remodeling in RhoA-dependent Kv1.2 regulation.
Title: Dual roles for RHOA/RHO-kinase in the regulated trafficking of a voltage-sensitive potassium channel.
The spectrum of neurologic manifestations and neoplasms associated with voltage-gated potassium channel (VGKC) autoimmunity is broader than previously recognized
Title: Clinical spectrum of voltage-gated potassium channel autoimmunity.
the numbers of Kv1.2 channels are higher in DRs than VRs.
Title: Expression and localization of Kv1 potassium channels in rat dorsal and ventral spinal roots.

Submit: New GeneRIF Correction See all (16)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
P16389	Q9UHC6	CNTNAP2	HPRD	PubMed
P16389	Q14247	CTTN	HPRD	PubMed
P16389	Q12959	DLG1	HPRD	PubMed
P16389	P78352	DLG4	HPRD	PubMed
P16389	P50549	ETV1	HPRD	PubMed
P16389	P16389	KCNA2	HPRD	PubMed
P16389	P22001	KCNA3	HPRD	PubMed
P16389	P22459	KCNA4	HPRD	PubMed
P16389	P22460	KCNA5	HPRD	PubMed
P16389	Q14722	KCNAB1	HPRD	PubMed
P16389	Q13303	KCNAB2	HPRD	PubMed
P16389	Q14289	PTK2B	HPRD	PubMed
P16389	P18433	PTPRA	HPRD	PubMed
P16389	P61586	RHOA	HPRD	PubMed
BioGRID:109940	BioGRID:114078	CNTNAP1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109940	BioGRID:108332	CTTN	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:109940	BioGRID:108086	DLG4	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:109940	BioGRID:109939	KCNA1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109940	BioGRID:109941	KCNA3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109940	BioGRID:109942	KCNA4	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109940	BioGRID:109943	KCNA5	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109940	BioGRID:113626	KCNAB1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109940	BioGRID:114086	KCNAB2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109940	BioGRID:108480	PTK2B	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109940	BioGRID:111750	PTPRA	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:109940	BioGRID:106880	RHOA	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:109940	BioGRID:121400	RTN4	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
delayed rectifier potassium channel activity	TAS Traceable Author Statement more info	PubMed
ion channel activity	IEA Inferred from Electronic Annotation more info
potassium channel activity	TAS Traceable Author Statement more info	PubMed
voltage-gated ion channel activity	IEA Inferred from Electronic Annotation more info
voltage-gated potassium channel activity	IEA Inferred from Electronic Annotation more info
voltage-gated potassium channel activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
ion transport	IEA Inferred from Electronic Annotation more info
potassium ion transmembrane transport	TAS Traceable Author Statement more info	PubMed
potassium ion transport	IEA Inferred from Electronic Annotation more info
synaptic transmission	TAS Traceable Author Statement more info
transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
integral to membrane	IEA Inferred from Electronic Annotation more info
juxtaparanode region of axon	ISS Inferred from Sequence or Structural Similarity more info
membrane	IEA Inferred from Electronic Annotation more info
plasma membrane	TAS Traceable Author Statement more info
voltage-gated potassium channel complex	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: potassium voltage-gated channel subfamily A member 2

Names: potassium voltage-gated channel subfamily A 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

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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.

Genomic

NG_027997.2 RefSeqGene

Range

5001..42895

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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/TrEMBL

A8K1Z6

UniProtKB/Swiss-Prot

P16389

Related

ENSP00000358785, OTTHUMP00000013287, ENST00000369770, OTTHUMT00000031965

Conserved Domains (2) summary

pfam00520
Location:224 – 301
Blast Score: 121

Ion_trans; Ion transport protein

cl02518
Location:35 – 126
Blast Score: 365

BTB; BTB/POZ domain
NM_004974.3 → NP_004965.1 potassium voltage-gated channel subfamily A member 2 isoform a

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/TrEMBL

A8K1Z6

UniProtKB/Swiss-Prot

P16389

Related

ENSP00000314520, OTTHUMP00000234759, ENST00000316361, OTTHUMT00000392423

Conserved Domains (3) summary

pfam00520
Location:224 – 409
Blast Score: 205

Ion_trans; Ion transport protein

cl02518
Location:35 – 126
Blast Score: 374

BTB; BTB/POZ domain

cl11596
Location:343 – 404
Blast Score: 149

Ion_trans_2; Ion channel

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

111136202..111174096, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

109007594..109045483, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL365361.12	CAH71982.1
genomic	CH471122.1	EAW56455.1
		EAW56456.1
mRNA	AK290061.1	BAF82750.1
mRNA	BC043564.1	AAH43564.1
mRNA	BI907383.1	None
mRNA	BM682747.1	None
mRNA	L02752.1	AAA36141.1