KCNH5 - potassium voltage-gated channel subfamily H member 5 Gene

Also Known as EAG2; hEAG2; H-EAG2; Kv10.2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 27133

About KCNH5

Cytogenetic location: 14q23.2 Genomic coordinates (GRCh38): 14:62,699,464-63,045,458 (from NCBI)

This gene has 4 transcripts (splice variants), 275 orthologues, 17 paralogues and is associated with 1 phenotype. Biased expression in brain (RPKM 1.4), adrenal (RPKM 0.6) and 2 other tissues.

Summary

This gene encodes a member of voltage-gated potassium channels. Members of this family have diverse functions, including regulating neurotransmitter and hormone release, cardiac function, and cell volume. This protein is an outward-rectifying, noninactivating channel. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

KCNH5 Products (2)

mRNA	Protein	Name
NM_139318.5	NP_647479.2	potassium voltage-gated channel subfamily H member 5 isoform 1
NM_172375.3	NP_758963.1	potassium voltage-gated channel subfamily H member 5 isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables delayed rectifier potassium channel activity	IDA IDA: Inferred from direct assay	11943152	GOA
enables voltage-gated potassium channel activity	IMP IMP: Inferred from mutant phenotype	24133262	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in potassium ion transport	IDA IDA: Inferred from direct assay	11943152	GOA
acts upstream of or within regulation of G2/M transition of mitotic cell cycle	IDA IDA: Inferred from direct assay	22855790	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in cell surface	IDA IDA: Inferred from direct assay	22855790	GOA
part of voltage-gated potassium channel complex	IDA IDA: Inferred from direct assay	11943152	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KCNH5 Protein Structure

PAS_9

Ion_trans

cNMP_binding

0
200
400
600
800
988 a.a.

Protein Preferred Names	Protein Names
potassium voltage-gated channel subfamily H member 5	ether-a-go-go 2

Related Diseases

Diseases	Alias
Ohtahara Syndrome
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Burst-Suppression Early Infantile Epileptic Encephalopathy With Suppression Bursts Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile
Episodic Pain Syndrome, Familial, 2	FEPS2 Familial Episodic Pain Syndrome 2
Bronchus Cancer	Malignant Neoplasm Of Bronchus And Lung Bronchus Carcinoma Bronchogenic Carcinoma Malignant Neoplasm Of Bronchus Or Lung Bc - Bronchogenic Carcinoma Carcinoma, Bronchogenic Bronchial Neoplasms
Medulloblastoma	MDB Cpnet Localized Primitive Neuroectodermal Tumor Classic Medulloblastoma Medulloblastoma Predisposition Syndrome Medulloblastoma, Somatic Brain Medulloblastoma Cns Pnet Infratentorial Primitive Neuroectodermal Tumor Neuroectodermal Tumors, Primitive Medulloblastomas Desmoplastic Medulloblastoma Medulloblastoma, With Extensive Nodularity Medulloblastoma Of Unspecified Site Medullomyoblastoma Of Unspecified Site

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS07128	KCNH5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	KCNH5	VGNC	VGNC:30447
Canis familiaris	KCNH5	VGNC	VGNC:42250
Felis catus	KCNH5	VGNC	VGNC:67910
Mus musculus	KCNH5	MGD	MGI:3584508
Macaca mulatta	KCNH5	VGNC	VGNC:73983
Rattus norvegicus	KCNH5	RGD	RGD:621417