KCNH5

Potassium voltage-gated channel, subfamily H (eag-related), member 5, also known as KCNH5, is a human gene encoding the K_v10.2 protein.[5]

KCNH5
Identifiers
Aliases	KCNH5, EAG2, H-EAG2, Kv10.2, hEAG2, potassium voltage-gated channel subfamily H member 5
External IDs	OMIM: 605716 MGI: 3584508 HomoloGene: 15858 GeneCards: KCNH5
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q23.2 Start 62,699,464 bp[1] End 63,102,037 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12|12 C3 Start 74,897,220 bp[2] End 75,177,332 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • potassium channel activity • voltage-gated ion channel activity • calmodulin binding • ion channel activity • voltage-gated potassium channel activity • phosphorelay sensor kinase activity • ion channel binding • protein heterodimerization activity Cellular component • integral component of membrane • membrane • cell membrane • intracellular • cell surface • integral component of plasma membrane Biological process • regulation of G2/M transition of mitotic cell cycle • signal transduction by protein phosphorylation • regulation of membrane potential • regulation of ion transmembrane transport • ion transport • potassium ion transport • transmembrane transport • potassium ion transmembrane transport • phosphorelay signal transduction system Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	27133	238271
Ensembl	ENSG00000140015	ENSMUSG00000034402
UniProt	Q8NCM2	Q920E3
RefSeq (mRNA)	NM_139318 NM_172375 NM_172376	NM_172805
RefSeq (protein)	NP_647479 NP_758963	NP_766393
Location (UCSC)	Chr 14: 62.7 – 63.1 Mb	Chr 12: 74.9 – 75.18 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.[5]

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

References

1. GRCh38: Ensembl release 89: ENSG00000140015 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000034402 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: KCNH5 potassium voltage-gated channel, subfamily H (eag-related), member 5".

Further reading

• Gutman GA, Chandy KG, Grissmer S, et al. (2006). "International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels". Pharmacol. Rev. 57 (4): 473–508. doi:10.1124/pr.57.4.10. PMID 16382104.
• Occhiodoro T, Bernheim L, Liu JH, et al. (1998). "Cloning of a human ether-a-go-go potassium channel expressed in myoblasts at the onset of fusion". FEBS Lett. 434 (1–2): 177–82. doi:10.1016/S0014-5793(98)00973-9. PMID 9738473.
• Volorio S, Simon G, Repetto M, et al. (1999). "Sequencing analysis of forty-eight human image cDNA clones similar to Drosophila mutant protein". DNA Seq. 9 (5–6): 307–15. doi:10.3109/10425179809008469. PMID 10524757.
• Schönherr R, Gessner G, Löber K, Heinemann SH (2002). "Functional distinction of human EAG1 and EAG2 potassium channels". FEBS Lett. 514 (2–3): 204–8. doi:10.1016/S0014-5793(02)02365-7. PMID 11943152.
• Ju M, Wray D (2002). "Molecular identification and characterisation of the human eag2 potassium channel". FEBS Lett. 524 (1–3): 204–10. doi:10.1016/S0014-5793(02)03055-7. PMID 12135768.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.