SBSPON (somatomedin B and thrombospondin type 1 domain containing)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
157869
Gene name Gene Name - the full gene name approved by the HGNC.
Somatomedin B and thrombospondin type 1 domain containing
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SBSPON
Synonyms (NCBI Gene) Gene synonyms aliases
C8orf84, RPESP
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q21.11
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
621005 30362 ENSG00000164764
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Crohn Disease Crohn's disease N/A N/A GWAS
Show/Hide Text Mining Associations (6)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Colorectal Neoplasms Associate 33941849
Crohn Disease Associate 22412388
Myopia Associate 36036911
Neoplasms Associate 33941849
Obesity Associate 25772781
Pre Eclampsia Associate 26388242