Gene Gene information from NCBI Gene database.
Entrez ID 646486
Gene name Fatty acid binding protein 12
Gene symbol FABP12
Synonyms (NCBI Gene)
-
Chromosome 8
Chromosome location 8q21.13
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
GO ID Ontology Definition Evidence Reference
GO:0005504 Function Fatty acid binding IBA
GO:0005634 Component Nucleus IBA
GO:0005829 Component Cytosol IBA
GO:0005829 Component Cytosol TAS
GO:0008289 Function Lipid binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618923 34524 ENSG00000197416
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A6NFH5
Protein name Fatty acid-binding protein 12
Protein function May play a role in lipid transport.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00061 Lipocalin 6 132 Lipocalin / cytosolic fatty-acid binding protein family Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in a number of retinoblastoma cell lines. {ECO:0000269|PubMed:18786628}.
Sequence
Sequence length 140
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Triglyceride catabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
KIDNEY CANCER 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
Familial multiple trichoepitheliomata Multiple Trichoepithelioma BEFREE 30809827
★☆☆☆☆
Found in Text Mining only
Marie Unna congenital hypotrichosis Marie Unna hypotrichosis BEFREE 30809827
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Prostatic neoplasm Pubtator 33031638, 39273616 Associate
★☆☆☆☆
Found in Text Mining only