KCNA4 potassium voltage-gated channel subfamily A member 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNA4provided by HGNC
Official Full Name: potassium voltage-gated channel subfamily A member 4provided by HGNC
Primary source: HGNC:HGNC:6222
See related: Ensembl:ENSG00000182255 MIM:176266; AllianceGenome:HGNC:6222
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: HK1; HBK4; PCN2; HPCN2; HUKII; KCNA8; KV1.4; KCNA4L; MCIDDS
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 A-type potassium current class, the members of which may be important in the regulation of the fast repolarizing phase of action potentials in heart and thus may influence the duration of cardiac action potential.[provided by RefSeq, Mar 2011]
Expression: Biased expression in adrenal (RPKM 3.8), brain (RPKM 1.8) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p14.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (30009730..30017030, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (30143826..30151124, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (30031277..30038577, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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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?

miR-448 regulates potassium voltage-gated channel subfamily A member 4 (KCNA4) in ischemia and heart failure.
Title: miR-448 regulates potassium voltage-gated channel subfamily A member 4 (KCNA4) in ischemia and heart failure.
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.
Human adrenal glomerulosa cells express K2P and GIRK potassium channels that are inhibited by ANG II and ACTH.
Title: Human adrenal glomerulosa cells express K2P and GIRK potassium channels that are inhibited by ANG II and ACTH.
statistically significant association between the KCNA4 rs1323860 C/T transition and endurance running performance level
Title: KCNA4 Gene Variant is Auxiliary in Endurance Running Performance Level.
Expression of Kv1.4 appears to increase in the spinal cord of mice modelling remitting-relapsing experimental allergic encephalomyelitis (rrEAE) in peak and remitting phases.
Title: K+ channel alterations in the progression of experimental autoimmune encephalomyelitis.
Detection of the methylation prevalence of KCNA4 and CYP26B1 together in serum demonstrated the good sensitivity and specificityin gastric cancer
Title: Hypermethylated DNA as potential biomarkers for gastric cancer diagnosis.
Data suggest that episodic ataxia type 1 mutations affect fast inactivation of Kv1.1/1.4 channels by a reduction in either subunit surface expression or altered affinity for the inactivation domain.
Title: Episodic ataxia type 1 mutations affect fast inactivation of K+ channels by a reduction in either subunit surface expression or affinity for inactivation domain.
Sialylated N-glycans uniquely impact gating of a mammalian Shaker family K(v) channel isoform, K(v)1.5, but have no effect on gating of a second Shaker isoform, K(v)1.4.
Title: N-glycans modulate K(v)1.5 gating but have no effect on K(v)1.4 gating.
Both arachidonic acid and Trolox potently modulate Kv1.4 and Kv4.2 channel alpha-subunits, thereby presumably tuning presynaptic transmitter release and postsynaptic somatodendritic excitability in synaptic transmission and plasticity.
Title: Arachidonic acid potently inhibits both postsynaptic-type Kv4.2 and presynaptic-type Kv1.4 IA potassium channels.
Novel role for GIP in regulating K(V)1.4 cell surface expression and modulation of A-type potassium currents
Title: A novel mechanism for the suppression of a voltage-gated potassium channel by glucose-dependent insulinotropic polypeptide: protein kinase A-dependent endocytosis.

Submit: New GeneRIF Correction See all GeneRIFs (16)

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
Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum MedGen: C4748984 OMIM: 618284 GeneReviews: Not available	Compare labs

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

PMC20269P1 (e-PCR)
- UniSTS:271893

D11S4337 (e-PCR)
- UniSTS:46663

KCNA4 (e-PCR)
- UniSTS:42625

KCNA4_359 (e-PCR)
- UniSTS:277405

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 potassium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
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

Process	Evidence Code	Pubs
involved_in action potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in potassium ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
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 presynaptic membrane potential	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
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 dendritic spine	IBA Inferred from Biological aspect of Ancestor more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	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
part_of voltage-gated potassium channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of voltage-gated potassium channel complex	IMP Inferred from Mutant Phenotype more info	PubMed
part_of voltage-gated potassium channel complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: potassium voltage-gated channel subfamily A member 4

Names: cardiac potassium channel; fetal skeletal muscle potassium channel; potassium channel 2; potassium channel, voltage gated shaker related subfamily A, member 4; rapidly inactivating potassium channel; shaker-related potassium channel Kv1.4; type A potassium channel; voltage-gated K(+) channel HuKII; voltage-gated potassium channel HBK4; voltage-gated potassium channel HK1; voltage-gated potassium channel subunit Kv1.4

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_042309.1 RefSeqGene

Range

5001..12301

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002233.4 → NP_002224.1 potassium voltage-gated channel subfamily A member 4

See identical proteins and their annotated locations for NP_002224.1

Status: REVIEWED

Source sequence(s)

AC124657, AK311228, BE467209, DA328650, M60450

Consensus CDS

CCDS41629.1

UniProtKB/Swiss-Prot

P22459

Related

ENSP00000328511.6, ENST00000328224.7

Conserved Domains (3) summary

cl38908
Location:176 → 303

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

pfam00520
Location:306 → 570

Ion_trans; Ion transport protein

pfam07941
Location:1 → 37

K_channel_TID; Potassium channel Kv1.4 tandem inactivation domain