KCNH4 potassium voltage-gated channel subfamily H member 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNH4provided by HGNC
Official Full Name: potassium voltage-gated channel subfamily H member 4provided by HGNC
Primary source: HGNC:HGNC:6253
See related: Ensembl:ENSG00000089558 MIM:604528; AllianceGenome:HGNC:6253
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: BEC2; ELK1; Kv12.3
Summary: Voltage-gated potassium (Kv) 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. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. The gene is brain-specific, and located in the neocortex and the striatum. It may be involved in cellular excitability of restricted neurons in the central nervous system. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.2

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (42156891..42181142, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (43013376..43037630, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (40308909..40333160, complement)

Chromosome 17 - NC_000017.11 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 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?

Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

Submit: New GeneRIF Correction

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

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

D17S1245 (e-PCR)
- UniSTS:149858

D17S1138 (e-PCR)
- UniSTS:148850

D6S2066 (e-PCR)
- UniSTS:35959

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables voltage-gated potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in potassium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion transport	TAS Traceable Author Statement more info	PubMed
involved_in regulation of membrane potential	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of voltage-gated potassium channel complex	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: voltage-gated delayed rectifier potassium channel KCNH4

Names: ELK channel 1; brain-specific eag-like channel 2; ether-a-go-go K(+) channel family member; ether-a-go-go-like potassium channel 1; potassium channel, voltage gated eag related subfamily H, member 4; potassium voltage-gated channel, subfamily H (eag-related), member 4; voltage-gated potassium channel subunit Kv12.3

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.

mRNA and Protein(s)

NM_012285.3 → NP_036417.1 voltage-gated delayed rectifier potassium channel KCNH4

See identical proteins and their annotated locations for NP_036417.1

Status: REVIEWED

Source sequence(s)

AB022698, AC099811, AW084816

Consensus CDS

CCDS11420.1

UniProtKB/Swiss-Prot

Q9UQ05

Related

ENSP00000264661.2, ENST00000264661.4

Conserved Domains (4) summary

PHA02682
Location:838 → 999

PHA02682; ORF080 virion core protein; Provisional

PLN03192
Location:177 → 620

PLN03192; Voltage-dependent potassium channel; Provisional

PRK13559
Location:41 → 179

PRK13559; hypothetical protein; Provisional

cl00047
Location:578 → 669

CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...