Gene Gene information from NCBI Gene database.
Entrez ID 387882
Gene name Chromosome 12 open reading frame 75
Gene symbol C12orf75
Synonyms (NCBI Gene)
AGD3OCC-1OCC1
Chromosome 12
Chromosome location 12q23.3
miRNA miRNA information provided by mirtarbase database.
155
miRTarBase ID miRNA Experiments Reference
MIRT831784 hsa-miR-183 CLIP-seq
MIRT831785 hsa-miR-219-2-3p CLIP-seq
MIRT831786 hsa-miR-2964a-3p CLIP-seq
MIRT831787 hsa-miR-3622b-5p CLIP-seq
MIRT831788 hsa-miR-380 CLIP-seq
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TAD7
Protein name Overexpressed in colon carcinoma 1 protein (OCC-1) (AGD3)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15506 OCC1 1 62 OCC1 family Family
Tissue specificity TISSUE SPECIFICITY: High expression in placenta, skeletal muscle, kidney and pancreas tissues. Absent or very faint expression in heart, brain, lung and liver. Expressed during adipogenic differentiation of mesenchymal stem cells (at protein level). {ECO:
Sequence
Sequence length 63
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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 Evidence Score
CHRONIC KIDNEY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma, Clear Cell Adenocarcinoma BEFREE 2354825
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 23419831 Associate
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia Telangiectasia BEFREE 21927021
★☆☆☆☆
Found in Text Mining only
Biliary Atresia Biliary atresia Pubtator 40665272 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 30218350
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 11890990
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 34074799 Stimulate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 35576683 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 34074799 Stimulate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 12805404, 21927021
★☆☆☆☆
Found in Text Mining only