The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan and is a member of the syndecan proteoglycan family. The syndecans mediate cell binding, cell signaling, and cytoskeletal organization and syndecan receptors are req
miRNAmiRNA information provided by mirtarbase database.
Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
Cell surface proteoglycan that contains both heparan sulfate and chondroitin sulfate and that links the cytoskeleton to the interstitial matrix (By similarity). Regulates exosome biogenesis in concert with SDCBP and PDCD6IP (PubMed:22660413). Ab
TISSUE SPECIFICITY: Detected in placenta (at protein level) (PubMed:32337544). Detected in fibroblasts (at protein level) (PubMed:36213313). {ECO:0000269|PubMed:32337544, ECO:0000269|PubMed:36213313}.
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)
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.
["ECM-receptor interaction","Cytoskeleton in muscle cells","A tetrasaccharide linker sequence is required for GAG synthesis","HS-GAG biosynthesis","HS-GAG degradation","Defective B4GALT7 causes EDS, progeroid type","Defective B3GAT3 causes JDSSDHD","Defective EXT2 causes exostoses 2","Defective EXT1 causes exostoses 1, TRPS2 and CHDS","Defective B3GALT6 causes EDSP2 and SEMDJL1","Retinoid metabolism and transport"]
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Diseases Linked via Similar GenesDiseases curated for genes most similar to SDC1 (see Related Genes above), that are NOT already directly curated for SDC1 itself -- a lead worth checking, not a confirmed association.