• Gene id: 10507

Gene Summary

• Gene Symbol: SEMA4D   Gene   UCSC   Ensembl
• Aliases: A8, BB18, C9orf164, CD100, COLL4, GR3, M-sema-G, SEMAJ, coll-4
• Gene name: semaphorin 4D
• Alternate names: semaphorin-4D, sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D, sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, 4D,
• Gene location: 9q22.2 (37920560: 37951940)     Exons: 4     NC_000007.14
• OMIM: 601866

Protein Summary

• Protein general information: Q92854  
  • Name: Semaphorin 4D (A8) (BB18) (GR3) (CD antigen CD100)
  • Length: 862  
  • Mass: 96150
  • Tissue specificity: Strongly expressed in skeletal muscle, peripheral blood lymphocytes, spleen, and thymus and also expressed at lower levels in testes, brain, kidney, small intestine, prostate, heart, placenta, lung and pancreas, but not in colon and li
• Sequence:

  MRMCTPIRGLLMALAVMFGTAMAFAPIPRITWEHREVHLVQFHEPDIYNYSALLLSEDKDTLYIGAREAVFAVNA
  LNISEKQHEVYWKVSEDKKAKCAEKGKSKQTECLNYIRVLQPLSATSLYVCGTNAFQPACDHLNLTSFKFLGKNE
  DGKGRCPFDPAHSYTSVMVDGELYSGTSYNFLGSEPIISRNSSHSPLRTEYAIPWLNEPSFVFADVIRKSPDSPD
  GEDDRVYFFFTEVSVEYEFVFRVLIPRIARVCKGDQGGLRTLQKKWTSFLKARLICSRPDSGLVFNVLRDVFVLR
  SPGLKVPVFYALFTPQLNNVGLSAVCAYNLSTAEEVFSHGKYMQSTTVEQSHTKWVRYNGPVPKPRPGACIDSEA
  RAANYTSSLNLPDKTLQFVKDHPLMDDSVTPIDNRPRLIKKDVNYTQIVVDRTQALDGTVYDVMFVSTDRGALHK
  AISLEHAVHIIEETQLFQDFEPVQTLLLSSKKGNRFVYAGSNSGVVQAPLAFCGKHGTCEDCVLARDPYCAWSPP
  TATCVALHQTESPSRGLIQEMSGDASVCPDKSKGSYRQHFFKHGGTAELKCSQKSNLARVFWKFQNGVLKAESPK
  YGLMGRKNLLIFNLSEGDSGVYQCLSEERVKNKTVFQVVAKHVLEVKVVPKPVVAPTLSVVQTEGSRIATKVLVA
  STQGSSPPTPAVQATSSGAITLPPKPAPTGTSCEPKIVINTVPQLHSEKTMYLKSSDNRLLMSLFLFFFVLFLCL
  FFYNCYKGYLPRQCLKFRSALLIGKKKPKSDFCDREQSLKETLVEPGSFSQQNGEHPKPALDTGYETEQDTITSK
  VPTDREDSQRIDDLSARDKPFDVKCELKFADSDADGD

• Structural information:
  • Protein Domains: (22..50-)
    (/note="Sema-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00352-)
    (502..55-)
    (/note="PSI-)
    (554..63-)
    (/note="Ig-like-C2-type")
  • Interpro: IPR007110  IPR036179  IPR013783  IPR003599  IPR003598   IPR013151  IPR002165  IPR016201  IPR001627  IPR036352  IPR027231  IPR015943  
  • Prosite: PS50835 PS51004
  • PDB: 1OLZ 3OL2
  • PDBsum: 1OLZ 3OL2
  • DIP: 59221
  • STRING: ENSP00000416523
• Other Databases: GeneCards:  SEMA4D  Malacards:  SEMA4D

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0038023	signaling receptor activity	IDA	molecular function
GO:0005102	signaling receptor binding	IDA	molecular function
GO:0030215	semaphorin receptor binding	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0045499	chemorepellent activity	IBA	molecular function
GO:0030335	positive regulation of cell migration	IBA	biological process
GO:0010693	negative regulation of alkaline phosphatase activity	IBA	biological process
GO:0007411	axon guidance	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0001755	neural crest cell migration	IBA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0071526	semaphorin-plexin signaling pathway	IBA	biological process
GO:0050919	negative chemotaxis	IBA	biological process
GO:0048843	negative regulation of axon extension involved in axon guidance	IBA	biological process
GO:0043931	ossification involved in bone maturation	IBA	biological process
GO:0043547	positive regulation of GTPase activity	IBA	biological process
GO:0030335	positive regulation of cell migration	IDA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005102	signaling receptor binding	IDA	molecular function
GO:0001934	positive regulation of protein phosphorylation	IDA	biological process
GO:1905704	positive regulation of inhibitory synapse assembly	ISS	biological process
GO:0048672	positive regulation of collateral sprouting	IMP	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	IMP	biological process
GO:0008360	regulation of cell shape	IMP	biological process
GO:0071526	semaphorin-plexin signaling pathway	IMP	biological process
GO:0071526	semaphorin-plexin signaling pathway	IMP	biological process
GO:0070486	leukocyte aggregation	IMP	biological process
GO:0048814	regulation of dendrite morphogenesis	IMP	biological process
GO:0043547	positive regulation of GTPase activity	IMP	biological process
GO:0031344	regulation of cell projection organization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004888	transmembrane signaling receptor activity	IMP	molecular function
GO:0030215	semaphorin receptor binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0006955	immune response	TAS	biological process
GO:0007155	cell adhesion	TAS	biological process
GO:0043066	negative regulation of apoptotic process	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0030215	semaphorin receptor binding	IEA	molecular function
GO:0030335	positive regulation of cell migration	IEA	biological process
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0050772	positive regulation of axonogenesis	IEA	biological process
GO:1905704	positive regulation of inhibitory synapse assembly	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005102	signaling receptor binding	IEA	molecular function
GO:0010693	negative regulation of alkaline phosphatase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043931	ossification involved in bone maturation	IEA	biological process
GO:0045668	negative regulation of osteoblast differentiation	IEA	biological process
GO:0050732	negative regulation of peptidyl-tyrosine phosphorylation	IEA	biological process
GO:1900220	semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis	IEA	biological process
GO:0030215	semaphorin receptor binding	ISS	molecular function
GO:0005615	extracellular space	ISS	cellular component
GO:0030335	positive regulation of cell migration	ISS	biological process
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	ISS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0010693	negative regulation of alkaline phosphatase activity	IMP	biological process
GO:0043547	positive regulation of GTPase activity	ISS	biological process
GO:0043931	ossification involved in bone maturation	IMP	biological process
GO:0045668	negative regulation of osteoblast differentiation	ISS	biological process
GO:0050732	negative regulation of peptidyl-tyrosine phosphorylation	ISS	biological process
GO:1900220	semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis	ISS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0071526	semaphorin-plexin signaling pathway	IDA	biological process
GO:0007162	negative regulation of cell adhesion	IDA	biological process
GO:0030215	semaphorin receptor binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04360	Axon guidance

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray