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

Homo sapiens

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

Gene ID: 27133 | Gene type: protein coding

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07128	KCNH5 Human Pre-designed siRNA Set A		/	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

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