KCNH5

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KCNH5
Identifiers
Aliases KCNH5, EAG2, H-EAG2, Kv10.2, hEAG2, potassium voltage-gated channel subfamily H member 5
External IDs MGI: 3584508 HomoloGene: 15858 GeneCards: 27133
Genetically Related Diseases
Disease Name References
major depressive disorder
RNA expression pattern
PBB GE KCNH5 gnf1h06293 at tn.png

PBB GE KCNH5 gnf1h08083 at tn.png

PBB GE KCNH5 gnf1h09304 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_139318
NM_172375
NM_172376

NM_172805

RefSeq (protein)

NP_647479.2
NP_758963.1

NP_766393.2

Location (UCSC) Chr 14: 62.7 – 63.1 Mb Chr 12: 74.9 – 75.18 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Potassium voltage-gated channel, subfamily H (eag-related), member 5, also known as KCNH5, is a human gene encoding the Kv10.2 protein.[1]

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 of a voltage-gated non-inactivating delayed rectifier potassium channel. This gene is not expressed in differentiating myoblasts. Alternative splicing results in three transcript variants encoding distinct isoforms.[1]

Mutations in this gene have been linked to cases of early onset Epilepsy.(10.1111/epi.12201)

References[edit]

Further reading[edit]