• Gene id: 80031

Gene Summary

• Gene Symbol: SEMA6D   Gene   UCSC   Ensembl
• Gene name: semaphorin 6D
• Alternate names: semaphorin-6D, sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D,
• Gene location: 15q21.1 (47184088: 47774227)     Exons: 26     NC_000015.10
• Gene summary(Entrez): Semaphorins are a large family, including both secreted and membrane associated proteins, many of which have been implicated as inhibitors or chemorepellents in axon pathfinding, fasciculation and branching, and target selection. All semaphorins possess a
• OMIM: 609295

Protein Summary

• Protein general information: Q8NFY4  
  • Name: Semaphorin 6D
  • Length: 1073  
  • Mass: 119872
• Sequence:

  MRVFLLCAYILLLMVSQLRAVSFPEDDEPLNTVDYHYSRQYPVFRGRPSGNESQHRLDFQLMLKIRDTLYIAGRD
  QVYTVNLNEMPKTEVIPNKKLTWRSRQQDRENCAMKGKHKDECHNFIKVFVPRNDEMVFVCGTNAFNPMCRYYRL
  STLEYDGEEISGLARCPFDARQTNVALFADGKLYSATVADFLASDAVIYRSMGDGSALRTIKYDSKWIKEPHFLH
  AIEYGNYVYFFFREIAVEHNNLGKAVYSRVARICKNDMGGSQRVLEKHWTSFLKARLNCSVPGDSFFYFDVLQSI
  TDIIQINGIPTVVGVFTTQLNSIPGSAVCAFSMDDIEKVFKGRFKEQKTPDSVWTAVPEDKVPKPRPGCCAKHGL
  AEAYKTSIDFPDETLSFIKSHPLMDSAVPPIADEPWFTKTRVRYRLTAISVDHSAGPYQNYTVIFVGSEAGMVLK
  VLAKTSPFSLNDSVLLEEIEAYNHAKCSAENEEDKKVISLQLDKDHHALYVAFSSCIIRIPLSRCERYGSCKKSC
  IASRDPYCGWLSQGSCGRVTPGMLAEGYEQDTEFGNTAHLGDCHEILPTSTTPDYKIFGGPTSDMEVSSSSVTTM
  ASIPEITPKVIDTWRPKLTSSRKFVVQDDPNTSDFTDPLSGIPKGVRWEVQSGESNQMVHMNVLITCVFAAFVLG
  AFIAGVAVYCYRDMFVRKNRKIHKDAESAQSCTDSSGSFAKLNGLFDSPVKEYQQNIDSPKLYSNLLTSRKELPP
  NGDTKSMVMDHRGQPPELAALPTPESTPVLHQKTLQAMKSHSEKAHGHGASRKETPQFFPSSPPPHSPLSHGHIP
  SAIVLPNATHDYNTSFSNSNAHKAEKKLQNIDHPLTKSSSKRDHRRSVDSRNTLNDLLKHLNDPNSNPKAIMGDI
  QMAHQNLMLDPMGSMSEVPPKVPNREASLYSPPSTLPRNSPTKRVDVPTTPGVPMTSLERQRGYHKNSSQRHSIS
  AMPKNLNSPNGVLLSRQPSMNRGGYMPTPTGAKVDYIQGTPVSVHLQPSLSRQSSYTSNGTLPRTGLKRTPSLKP
  DVPPKPSFVPQTPSVRPLNKYTY

• Structural information:
  • Protein Domains: (27..51-)
    (/note="Sema-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00352-)
    (514..56-)
    (/note="PSI"-)
  • Interpro: IPR002165  IPR016201  IPR001627  IPR036352  IPR027231   IPR015943  
  • Prosite: PS51004
  • STRING: ENSP00000324857
• Other Databases: GeneCards:  SEMA6D  Malacards:  SEMA6D

Gene ontology

GO accession	Term name	Evidence code	Go category
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: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:0030215	semaphorin receptor binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
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:0005886	plasma membrane	TAS	cellular component
GO:0030215	semaphorin receptor binding	IEA	molecular function
GO:0014912	negative regulation of smooth muscle cell migration	IEA	biological process
GO:0021591	ventricular system development	IEA	biological process
GO:0014911	positive regulation of smooth muscle cell migration	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04360	Axon guidance

Diseases

Associated diseases	References
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)