Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protei
Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
Cell surface proteoglycan that bears heparan sulfate. May be involved in the development of kidney tubules and of the central nervous system (By similarity).
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)
CausalDiseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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.
["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 GPC4 (see Related Genes above), that are NOT already directly curated for GPC4 itself -- a lead worth checking, not a confirmed association.