KCNH5

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 (Mouse) Chr. Chromosome 12 (mouse) [1] Band 12|12 C3 Start 74,943,994 bp [1] End 75,224,106 bp [1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte retinal pigment epithelium prefrontal cortex Brodmann area 9 superior frontal gyrus Brodmann area 46 Brodmann area 23 postcentral gyrus hypothalamus corpus callosum Top expressed in superior frontal gyrus visual cortex inferior colliculus piriform cortex primary motor cortex habenula secondary oocyte prefrontal cortex facial motor nucleus olfactory bulb More reference expression data BioGPS 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 transmembrane transporter binding protein heterodimerization activity Cellular component integral component of membrane membrane plasma membrane intracellular anatomical structure cell surface integral component of plasma membrane Biological process regulation of G2/M transition of mitotic cell cycle signal transduction 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 n/a ENSMUSG00000034402 UniProt Q8NCM2 Q920E3 RefSeq (mRNA) NM_139318 NM_172375 NM_172376 NM_172805 RefSeq (protein) NP_647479 NP_758963 NP_766393 Location (UCSC) n/a Chr 12: 74.94 – 75.22 Mb PubMed search [2] [3]
Wikidata
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Potassium voltage-gated channel, subfamily H (eag-related), member 5, also known as KCNH5, is a human gene encoding the K_v10.2 protein. ^[4]

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. ^[4]

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

References

1. GRCm38: Ensembl release 89: ENSMUSG00000034402 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "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. S2CID   219195192.
• 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. Bibcode:2002PNAS...9916899M. 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.