• Gene id: 157869

Gene Summary

• Gene Symbol: SBSPON   Gene   UCSC   Ensembl
• Aliases: C8orf84, RPESP
• Gene name: somatomedin B and thrombospondin type 1 domain containing
• Alternate names: somatomedin-B and thrombospondin type-1 domain-containing protein, RPE-spondin,
• Gene location: 8q21.11 (4290194: 4267700)     Exons: 11     NC_000004.12

Protein Summary

• Protein general information: Q8IVN8  
  • Name: Somatomedin B and thrombospondin type 1 domain containing protein (RPE spondin)
  • Length: 264  
  • Mass: 29610
  • Tissue specificity: Detected in aorta extracellular matrix (at protein level). {ECO
• Sequence:

  MRTLWMALCALSRLWPGAQAGCAEAGRCCPGRDPACFARGWRLDRVYGTCFCDQACRFTGDCCFDYDRACPARPC
  FVGEWSPWSGCADQCKPTTRVRRRSVQQEPQNGGAPCPPLEERAGCLEYSTPQGQDCGHTYVPAFITTSAFNKER
  TRQATSPHWSTHTEDAGYCMEFKTESLTPHCALENWPLTRWMQYLREGYTVCVDCQPPAMNSVSLRCSGDGLDSD
  GNQTLHWQAIGNPRCQGTWKKVRRVDQCSCPAVHSFIFI

• Structural information:
  • Protein Domains: (24..7-)
    (/note="SMB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00350-)
    (74..12-)
    (/note="TSP-type-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00210"-)
  • Interpro: IPR039942  IPR036024  IPR001212  IPR000884  IPR036383  
  • Prosite: PS00524 PS50958 PS50092
  • STRING: ENSP00000297354
• Other Databases: GeneCards:  SBSPON  Malacards:  SBSPON

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	IEA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	colocalizes with
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component

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)