SCN7A
From Wikipedia, the free encyclopedia
| Sodium channel, voltage-gated, type VII, alpha subunit | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | SCN7A; NaG; Nav2.1; Nav2.2; SCN6A | ||||||||||||
| External IDs | OMIM: 182392 MGI: 102965 HomoloGene: 55706 ChEMBL: 3585 GeneCards: SCN7A Gene | ||||||||||||
| |||||||||||||
| RNA expression pattern | |||||||||||||
 | |||||||||||||
| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 6332 | 20272 | |||||||||||
| Ensembl | ENSG00000136546 | ENSMUSG00000034810 | |||||||||||
| UniProt | Q01118 | B1AYL1 | |||||||||||
| RefSeq (mRNA) | NM_002976 | NM_009135 | |||||||||||
| RefSeq (protein) | NP_002967 | NP_033161 | |||||||||||
| Location (UCSC) | Chr 2: 167.26 – 167.35 Mb | Chr 2: 66.67 – 66.78 Mb | |||||||||||
| PubMed search | |||||||||||||
Sodium channel protein type 7 subunit alpha is a protein that in humans is encoded by the SCN7A gene on the chromosome specifically located at 2q21-23 chromosome site.[1][2] This is on of 10 Sodium channel types, and is expressed in the heart, the uterus and in glial cells. Its sequence identity is 48, and it is the only sodium channel known to be completely un-blockable by TTX (tetrodotoxin)
See also
Scn7a is the name of the gene that encodes to a membrane protein, in particular a Sodium Channel Nax (also known as NaG, Nav2.1, etc.) It belongs to a family of Sodium Channel known as Voltage-Gated, but is not activated by changes in the membrane's voltage, as happen usually in the members of this family (Nav1.1 to Nav1.9); it activates by changes in the extracellular concentration of sodium [~150 mM].
References
- ↑ Plummer NW, Meisler MH (May 1999). "Evolution and diversity of mammalian sodium channel genes". Genomics 57 (2): 323–31. doi:10.1006/geno.1998.5735. PMID 10198179.
- ↑ "Entrez Gene: SCN7A sodium channel, voltage-gated, type VII, alpha".
Further reading
- Meyers KJ, Mosley TH, Fox E et al. (2007). "Genetic variations associated with echocardiographic left ventricular traits in hypertensive blacks". Hypertension 49 (5): 992–9. doi:10.1161/HYPERTENSIONAHA.106.081265. PMID 17339538.
- Zhang KX, Zhu DL, He X et al. (2004). "[Association of single nucleotide polymorphism in human SCN7A gene with essential hypertension in Chinese]". Zhonghua Yi Xue Yi Chuan Xue Za Zhi 20 (6): 463–7. PMID 14669210.
- 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.
- Goldin AL, Barchi RL, Caldwell JH et al. (2001). "Nomenclature of voltage-gated sodium channels". Neuron 28 (2): 365–8. doi:10.1016/S0896-6273(00)00116-1. PMID 11144347.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
- George AL, Knops JF, Han J et al. (1994). "Assignment of a human voltage-dependent sodium channel alpha-subunit gene (SCN6A) to 2q21-q23". Genomics 19 (2): 395–7. doi:10.1006/geno.1994.1081. PMID 8188276.
- Boyle MB, Heslip LA (1995). "Voltage-dependent Na+ channel mRNA expression in pregnant myometrium". Recept. Channels 2 (3): 249–53. PMID 7874451.
- Han JA, Lu CM, Brown GB, Rado TA (1991). "Direct amplification of a single dissected chromosomal segment by polymerase chain reaction: a human brain sodium channel gene is on chromosome 2q22-q23". Proc. Natl. Acad. Sci. U.S.A. 88 (2): 335–9. doi:10.1073/pnas.88.2.335. PMC 50805. PMID 1846440.
- George AL, Knittle TJ, Tamkun MM (1992). "Molecular cloning of an atypical voltage-gated sodium channel expressed in human heart and uterus: evidence for a distinct gene family". Proc. Natl. Acad. Sci. U.S.A. 89 (11): 4893–7. doi:10.1073/pnas.89.11.4893. PMC 49194. PMID 1317577.
External links
- SCN7A protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
This article is issued from Wikipedia. The text is available under the Creative Commons Attribution/Share Alike; additional terms may apply for the media files.