SEMA4A
| Sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | SEMA4A ; CORD10; RP35; SEMAB; SEMB | ||||||||||||
| External IDs | OMIM: 607292 MGI: 107560 HomoloGene: 8425 GeneCards: SEMA4A Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 64218 | 20351 | |||||||||||
| Ensembl | ENSG00000196189 | ENSMUSG00000028064 | |||||||||||
| UniProt | Q9H3S1 | Q62178 | |||||||||||
| RefSeq (mRNA) | NM_001193300 | NM_001163489 | |||||||||||
| RefSeq (protein) | NP_001180229 | NP_001156961 | |||||||||||
| Location (UCSC) |
Chr 1: 156.15 – 156.18 Mb |
Chr 3: 88.44 – 88.46 Mb | |||||||||||
| PubMed search | |||||||||||||
Semaphorin-4A is a protein that in humans is encoded by the SEMA4A gene.[1][2]
Function
SEMA4A is a member of the semaphorin family of soluble and transmembrane proteins. Semaphorins are involved in guidance of axonal migration during neuronal development and in immune responses.[supplied by OMIM][2]
Clinical significance
A germline variant in SEMA4A (V78M) has been demonstrated to confer risk for colorectal cancer type X.[3]
References
- ↑ Püschel AW, Adams RH, Betz H (Jun 1995). "Murine semaphorin D/collapsin is a member of a diverse gene family and creates domains inhibitory for axonal extension". Neuron 14 (5): 941–8. doi:10.1016/0896-6273(95)90332-1. PMID 7748561.
- 1 2 "Entrez Gene: SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A".
- ↑ Schulz E, Klampfl P, Holzapfel S, Janecke AR, Ulz P, Renner W, Kashofer K, Nojima S, Leitner A, Zebisch A, Wölfler A, Hofer S, Gerger A, Lax S, Beham-Schmid C, Steinke V, Heitzer E, Geigl JB, Windpassinger C, Hoefler G, Speicher MR, Richard Boland C, Kumanogoh A, Sill H (Oct 2014). "Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X.". Nature Commun 5: 5191. doi:10.1038/ncomms6191. PMID 25307848.
Further reading
- Kikutani H, Kumanogoh A (2003). "Semaphorins in interactions between T cells and antigen-presenting cells.". Nat. Rev. Immunol. 3 (2): 159–67. doi:10.1038/nri1003. PMID 12563299.
- Kumanogoh A, Kikutani H (2004). "Immune semaphorins: a new area of semaphorin research.". J. Cell. Sci. 116 (Pt 17): 3463–70. doi:10.1242/jcs.00674. PMID 12893810.
- Elhabazi A, Marie-Cardine A, Chabbert-de Ponnat I, Bensussan A, Boumsell L (2004). "Structure and function of the immune semaphorin CD100/SEMA4D.". Crit. Rev. Immunol. 23 (1-2): 65–81. doi:10.1615/CritRevImmunol.v23.i12.40. PMID 12906260.
- Kumanogoh A, Marukawa S, Suzuki K, Takegahara N, Watanabe C, Ch'ng E, Ishida I, Fujimura H, Sakoda S, Yoshida K, Kikutani H (2002). "Class IV semaphorin Sema4A enhances T-cell activation and interacts with Tim-2.". Nature 419 (6907): 629–33. doi:10.1038/nature01037. PMID 12374982.
- Abid A, Ismail M, Mehdi SQ, Khaliq S (2006). "Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases.". J. Med. Genet. 43 (4): 378–81. doi:10.1136/jmg.2005.035055. PMC 2563224. PMID 16199541.
- Nkyimbeng-Takwi E, Chapoval SP (2011). "Biology and function of neuroimmune semaphorins 4A and 4D". Immunol. Res. 50 (1): 10–21. doi:10.1007/s12026-010-8201-y. PMC 3366695. PMID 21203905.
- Smith EP, Shanks K, Lipsky MM, DeTolla LJ, Keegan AD, Chapoval SP (2011). "Expression of neuroimmune semaphorins 4A and 4D and their receptors in the lung is enhanced by allergen and vascular endothelial growth factor". BMC Immunol. 20: 30. doi:10.1186/1471-2172-12-30. PMC 3118960. PMID 21595947.
- Nkyimbeng-Takwi EH, Shanks K, Smith E, Iyer A, Lipsky MM, Detolla LJ, Kikutani H, Keegan AD, Chapoval SP (2012). "Neuroimmune semaphorin 4A downregulates the severity of allergic response". Mucosal Immunol. 5 (4): 409–19. doi:10.1038/mi.2012.18. PMC 3378810. PMID 22472774.
- Mogie G, Shanks K, Nkyimbeng-Takwi EH, Smith E, Davila E, Lipsky MM, DeTolla LJ, Keegan AD, Chapoval SP (2013). "Neuroimmune semaphorin 4A as a drug and drug target for asthma". Int. Immunopharmacol. 17 (3): 568–75. doi:10.1016/j.intimp.2013.08.005. PMID 23994348.
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