The protein encoded by this gene is a proteoglycan that may function as a neural growth and differentiation factor. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
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.
TISSUE SPECIFICITY: Detected in cerebrospinal fluid (at protein level) (PubMed:25326458). Detected in urine (at protein level) (PubMed:37453717). Expressed in brain (at protein level) (PubMed:9950058). {ECO:0000269|PubMed:25326458, ECO:0000269|PubMed:3745
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.
Phenotype Name
Clinical Significance
Source
Reference
Evidence Score
Adrenocortical carcinoma, hereditary
Benign
ClinVar
—
★★★★★
★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diseases Linked via Similar GenesDiseases curated for genes most similar to CSPG5 (see Related Genes above), that are NOT already directly curated for CSPG5 itself -- a lead worth checking, not a confirmed association.