Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
Harmonin-binding protein USHBP1 (AIE-75-binding protein) (Mutated in colon cancer protein 2) (MCC-2) (Usher syndrome type-1C protein-binding protein 1) (USH1C-binding protein 1)
PDZ domain of MCC-2 bdg protein for Usher syndrome
Domain
Tissue specificity
TISSUE SPECIFICITY: Highest level of expression in heart, and moderate to low expression in skeletal muscle, kidney, liver, small intestine, placenta and lung. {ECO:0000269|PubMed:11311560}.
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.
Diseases Linked via Similar GenesDiseases curated for genes most similar to USHBP1 (see Related Genes above), that are NOT already directly curated for USHBP1 itself -- a lead worth checking, not a confirmed association.