KCNH5

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Potassium voltage-gated channel, subfamily H (eag-related), member 5
Identifiers
Symbols KCNH5 ; EAG2; H-EAG2; Kv10.2; hEAG2
External IDs OMIM605716 MGI3584508 HomoloGene15858 IUPHAR: Kv10.2 GeneCards: KCNH5 Gene
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 27133 238271
Ensembl ENSG00000140015 ENSMUSG00000034402
UniProt Q8NCM2 Q920E3
RefSeq (mRNA) NM_139318 NM_172805
RefSeq (protein) NP_647479 NP_766393
Location (UCSC) Chr 14:
63.17 – 63.57 Mb
Chr 12:
74.9 – 75.18 Mb
PubMed search [1] [2]

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)

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