SBSPON (somatomedin B and thrombospondin type 1 domain containing)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 157869
Gene name Somatomedin B and thrombospondin type 1 domain containing
Gene symbol SBSPON
Synonyms (NCBI Gene)
C8orf84RPESP
Chromosome 8
Chromosome location 8q21.11
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
GO ID Ontology Definition Evidence Reference
GO:0005201 Function Extracellular matrix structural constituent RCA 20551380, 25037231, 27068509, 27559042
GO:0005576 Component Extracellular region IEA
GO:0031012 Component Extracellular matrix HDA 20551380
GO:0031012 Component Extracellular matrix HDA 25037231, 27068509, 27559042
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
621005 30362 ENSG00000164764
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IVN8
Protein name Somatomedin-B and thrombospondin type-1 domain-containing protein (RPE-spondin)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF19028 TSP1_spondin 75 → 125 Spondin-like TSP1 domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in aorta extracellular matrix (at protein level). {ECO:0000269|PubMed:20551380}.
Sequence 
MRTLWMALCALSRLWPGAQAGCAEAGRCCPGRDPACFARGWRLDRVYGTCFCDQACRFTG
DCCFDYDRACPARPCFVGEWSPWSGCADQCKPTTRVRRRSVQQEPQNGGAPCPPLEERAG
CLEYSTPQGQDCGHTYVPAFITTSAFNKERTRQATSPHWSTHTEDAGYCMEFKTESLTPH
CALENWPLTRWMQYLREGYTVCVDCQPPAMNSVSLRCSGDGLDSDGNQTLHWQAIGNPRC
QGTWKKVRRVDQCSCPAVHSFIFI
Sequence length 264
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (4)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CROHN'S DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEPATOMEGALY — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCOLIOSIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (8)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Colorectal Carcinoma Colorectal Cancer BEFREE 28781692
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 33941849 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn Disease GWASDB_DG 22412388
★★★★★
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn Disease GWASCAT_DG 22412388
★★★★★
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn disease Pubtator 22412388 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 28781692
★★★★★
★☆☆☆☆
Found in Text Mining only
Myopia Myopia Pubtator 36036911 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Obesity Obesity Pubtator 25772781 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only