SCN7A

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.[5][6] This is one 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).[7]

SCN7A
Identifiers
Aliases	SCN7A, NaG, Nav2.1, Nav2.2, SCN6A, sodium voltage-gated channel alpha subunit 7
External IDs	OMIM: 182392 MGI: 102965 HomoloGene: 55706 GeneCards: SCN7A
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q24.3 Start 166,403,573 bp[1] End 166,611,482 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 C1.3|2 39.21 cM Start 66,673,425 bp[2] End 66,784,914 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • ion channel activity • sodium channel activity • voltage-gated ion channel activity • voltage-gated sodium channel activity Cellular component • voltage-gated sodium channel complex • integral component of membrane • cell membrane • membrane • axon • glial cell projection Biological process • regulation of ion transmembrane transport • muscle contraction • membrane depolarization during action potential • ion transport • sodium ion transmembrane transport • transmembrane transport • neuronal action potential • sodium ion transport • ion transmembrane transport • response to bacterium • sodium ion homeostasis Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	6332	20272
Ensembl	ENSG00000136546	ENSMUSG00000034810
UniProt	Q01118	n/a
RefSeq (mRNA)	NM_002976	NM_009135
RefSeq (protein)	NP_002967	n/a
Location (UCSC)	Chr 2: 166.4 – 166.61 Mb	Chr 2: 66.67 – 66.78 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

See also

• Sodium channel

Scn7a is the name of the gene that encodes to a membrane protein, in particular a Sodium Channel Na_x (also known as NaG, Na_v2.1, 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 (Na_v1.1 to Na_v1.9); it activates by changes in the extracellular concentration of sodium [~150 mM].[7]

References

1. GRCh38: Ensembl release 89: ENSG00000136546 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000034810 - 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. Plummer NW, Meisler MH (April 1999). "Evolution and diversity of mammalian sodium channel genes". Genomics. 57 (2): 323–31. doi:10.1006/geno.1998.5735. PMID 10198179.
6. "Entrez Gene: SCN7A sodium channel, voltage-gated, type VII, alpha".
7. Hiyama TY, Watanabe E, Ono K, Inenaga K, Tamkun MM, Yoshida S, Noda M (June 2002). "Na(x) channel involved in CNS sodium-level sensing". Nature Neuroscience. 5 (6): 511–2. doi:10.1038/nn0602-856. PMID 11992118.

Further reading

• Noda M, Hiyama TY (August 2015). "The Na(x) Channel: What It Is and What It Does". The Neuroscientist. 21 (4): 399–412. doi:10.1177/1073858414541009. PMID 24962095.
• Hiyama TY, Yoshida M, Matsumoto M, Suzuki R, Matsuda T, Watanabe E, Noda M (April 2013). "Endothelin-3 expression in the subfornical organ enhances the sensitivity of Na(x), the brain sodium-level sensor, to suppress salt intake". Cell Metabolism. 17 (4): 507–19. doi:10.1016/j.cmet.2013.02.018. PMID 23541371.
• Shimizu H, Watanabe E, Hiyama TY, Nagakura A, Fujikawa A, Okado H, Yanagawa Y, Obata K, Noda M (April 2007). "Glial Nax channels control lactate signaling to neurons for brain [Na+] sensing". Neuron. 54 (1): 59–72. doi:10.1016/j.neuron.2007.03.014. PMID 17408578.
• Hiyama TY, Watanabe E, Okado H, Noda M (October 2004). "The subfornical organ is the primary locus of sodium-level sensing by Na(x) sodium channels for the control of salt-intake behavior". The Journal of Neuroscience. 24 (42): 9276–81. doi:10.1523/JNEUROSCI.2795-04.2004. PMC 6730094. PMID 15496663.
• Meyers KJ, Mosley TH, Fox E, Boerwinkle E, Arnett DK, Devereux RB, Kardia SL (May 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, Zhang Y, Zhang H, Zhao R, Lin J, Wang GL, Zhang KY, Huang W (December 2003). "[Association of single nucleotide polymorphism in human SCN7A gene with essential hypertension in Chinese]". Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics. 20 (6): 463–7. PMID 14669210.
• Goldin AL, Barchi RL, Caldwell JH, Hofmann F, Howe JR, Hunter JC, Kallen RG, Mandel G, Meisler MH, Netter YB, Noda M, Tamkun MM, Waxman SG, Wood JN, Catterall WA (November 2000). "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 (September 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
• George AL, Knops JF, Han J, Finley WH, Knittle TJ, Tamkun MM, Brown GB (January 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". Receptors & Channels. 2 (3): 249–53. PMID 7874451.
• Han JA, Lu CM, Brown GB, Rado TA (January 1991). "Direct amplification of a single dissected chromosomal segment by polymerase chain reaction: a human brain sodium channel gene is on chromosome 2q22-q23". Proceedings of the National Academy of Sciences of the United States of America. 88 (2): 335–9. doi:10.1073/pnas.88.2.335. PMC 50805. PMID 1846440.
• George AL, Knittle TJ, Tamkun MM (June 1992). "Molecular cloning of an atypical voltage-gated sodium channel expressed in human heart and uterus: evidence for a distinct gene family". Proceedings of the National Academy of Sciences of the United States of America. 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.