• Gene id: 10501

Gene Summary

• Gene Symbol: SEMA6B   Gene   UCSC   Ensembl
• Aliases: EPM11, SEM-SEMA-Y, SEMA-VIB, SEMAN, semaZ
• Gene name: semaphorin 6B
• Alternate names: semaphorin-6B, sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B, semaphorin VIB, semaphorin Z, semaphorin-6Ba,
• Gene location: 19p13.3 (4581483: 4542587)     Exons: 18     NC_000019.10
• Gene summary(Entrez): This gene encodes a member of the semaphorin family, a group of proteins characterized by the presence of a conserved semaphorin (sema) domain. Whereas some semaphorins are transmembrane proteins, others are secreted. Semaphorins play a major role in axon
• OMIM: 609449

Protein Summary

• Protein general information: Q9H3T3  
  • Name: Semaphorin 6B (Semaphorin Z) (Sema Z)
  • Length: 888  
  • Mass: 95285
• Sequence:

  MQTPRASPPRPALLLLLLLLGGAHGLFPEEPPPLSVAPRDYLNHYPVFVGSGPGRLTPAEGADDLNIQRVLRVNR
  TLFIGDRDNLYRVELEPPTSTELRYQRKLTWRSNPSDINVCRMKGKQEGECRNFVKVLLLRDESTLFVCGSNAFN
  PVCANYSIDTLQPVGDNISGMARCPYDPKHANVALFSDGMLFTATVTDFLAIDAVIYRSLGDRPTLRTVKHDSKW
  FKEPYFVHAVEWGSHVYFFFREIAMEFNYLEKVVVSRVARVCKNDVGGSPRVLEKQWTSFLKARLNCSVPGDSHF
  YFNVLQAVTGVVSLGGRPVVLAVFSTPSNSIPGSAVCAFDLTQVAAVFEGRFREQKSPESIWTPVPEDQVPRPRP
  GCCAAPGMQYNASSALPDDILNFVKTHPLMDEAVPSLGHAPWILRTLMRHQLTRVAVDVGAGPWGNQTVVFLGSE
  AGTVLKFLVRPNASTSGTSGLSVFLEEFETYRPDRCGRPGGGETGQRLLSLELDAASGGLLAAFPRCVVRVPVAR
  CQQYSGCMKNCIGSQDPYCGWAPDGSCIFLSPGTRAAFEQDVSGASTSGLGDCTGLLRASLSEDRAGLVSVNLLV
  TSSVAAFVVGAVVSGFSVGWFVGLRERRELARRKDKEAILAHGAGEAVLSVSRLGERRAQGPGGRGGGGGGGAGV
  PPEALLAPLMQNGWAKATLLQGGPHDLDSGLLPTPEQTPLPQKRLPTPHPHPHALGPRAWDHGHPLLPASASSSL
  LLLAPARAPEQPPAPGEPTPDGRLYAARPGRASHGDFPLTPHASPDRRRVVSAPTGPLDPASAADGLPRPWSPPP
  TGSLRRPLGPHAPPAATLRRTHTFNSGEARPGDRHRGCHARPGTDLAHLLPYGGADRTAPPVP

• Structural information:
  • Protein Domains: (31..52-)
    (/note="Sema-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00352"-)
  • Interpro: IPR002165  IPR001627  IPR036352  IPR027231  IPR015943  
  • Prosite: PS51004
  • STRING: ENSP00000467290
• Other Databases: GeneCards:  SEMA6B  Malacards:  SEMA6B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001755	neural crest cell migration	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0007411	axon guidance	IBA	biological process
GO:0048843	negative regulation of axon extension involved in axon guidance	IBA	biological process
GO:0050919	negative chemotaxis	IBA	biological process
GO:0071526	semaphorin-plexin signaling pathway	IBA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0030215	semaphorin receptor binding	IBA	molecular function
GO:0030335	positive regulation of cell migration	IBA	biological process
GO:0045499	chemorepellent activity	IBA	molecular function
GO:0030215	semaphorin receptor binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0030215	semaphorin receptor binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04360	Axon guidance

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray