SEMA4A

Semaphorin-4A is a protein that in humans is encoded by the SEMA4A gene.[5][6]

SEMA4A
Identifiers
Aliases	SEMA4A, CORD10, RP35, SEMAB, SEMB, semaphorin 4A
External IDs	OMIM: 607292 MGI: 107560 HomoloGene: 8425 GeneCards: SEMA4A
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q22 Start 156,147,366 bp[1] End 156,177,752 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 F1 Start 88,435,959 bp[2] End 88,461,182 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0001948 protein binding • neuropilin binding • semaphorin receptor binding • chemorepellent activity Cellular component • integral component of membrane • cell nucleus • cytosol • intracellular membrane-bounded organelle • cell membrane • extracellular • membrane • integral component of plasma membrane Biological process • cell differentiation • adaptive immune response • axonogenesis • immune system process • T-helper 1 cell differentiation • nervous system development • multicellular organism development • angiogenesis • regulation of endothelial cell migration • regulation of cell shape • negative regulation of angiogenesis • T cell differentiation involved in immune response • semaphorin-plexin signaling pathway • negative chemotaxis • neural crest cell migration • positive regulation of cell migration • negative regulation of axon extension involved in axon guidance • positive regulation of excitatory synapse assembly • positive regulation of inhibitory synapse assembly Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	64218	20351
Ensembl	ENSG00000196189	ENSMUSG00000028064
UniProt	Q9H3S1	Q62178
RefSeq (mRNA)	NM_001193300 NM_001193301 NM_001193302 NM_022367 NM_001370567 NM_001370568 NM_001370569 NM_001370571	NM_001163489 NM_001163490 NM_001163491 NM_013658
RefSeq (protein)	NP_001180229 NP_001180230 NP_001180231 NP_071762 NP_001357496 NP_001357497 NP_001357498 NP_001357500	NP_001156961 NP_001156962 NP_001156963 NP_038686
Location (UCSC)	Chr 1: 156.15 – 156.18 Mb	Chr 3: 88.44 – 88.46 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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][6]

Clinical significance

A germline variant in SEMA4A (V78M) has been demonstrated to confer risk for colorectal cancer type X.[7]

References

1. GRCh38: Ensembl release 89: ENSG00000196189 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000028064 - 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. 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.
6. "Entrez Gene: SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A".
7. 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 Communications. 5: 5191. doi:10.1038/ncomms6191. PMC 4214414. 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. 12: 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. PMC 3818409. PMID 23994348.
• Chapoval SP (2015). "Semaphorin 4A as novel regulator and promising therapeutic target in rheumatoid arthritis". Arthritis Res. Ther. 17: 313. doi:10.1186/s13075-015-0846-4. PMC 4635990. PMID 26542940.