UDP glucuronosyltransferase family 2 member A1 complex locus
Gene symbol
UGT2A1
Synonyms (NCBI Gene)
UDPGT2A1
Chromosome
4
Chromosome location
4q13.3
Summary
The protein encoded by this gene belongs to the UDP-glycosyltransferase family, members of which catalyze biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. Th
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.
UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion into either th
Family and domains
Tissue specificity
TISSUE SPECIFICITY: Olfactory epithelium, brain and fetal lung (PubMed:10359671). Not present in liver (PubMed:10359671). {ECO:0000269|PubMed:10359671}.
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.
["Pentose and glucuronate interconversions","Ascorbate and aldarate metabolism","Steroid hormone biosynthesis","Retinol metabolism","Porphyrin metabolism","Metabolism of xenobiotics by cytochrome P450","Drug metabolism - cytochrome P450","Drug metabolism - other enzymes","Biosynthesis of cofactors","Bile secretion","Chemical carcinogenesis - DNA adducts","Chemical carcinogenesis - receptor activation"]
["Pentose and glucuronate interconversions","Ascorbate and aldarate metabolism","Steroid hormone biosynthesis","Retinol metabolism","Porphyrin metabolism","Metabolism of xenobiotics by cytochrome P450","Drug metabolism - cytochrome P450","Drug metabolism - other enzymes","Biosynthesis of cofactors","Bile secretion","Chemical carcinogenesis - DNA adducts","Chemical carcinogenesis - receptor activation"]
["Pentose and glucuronate interconversions","Ascorbate and aldarate metabolism","Steroid hormone biosynthesis","Retinol metabolism","Porphyrin metabolism","Metabolism of xenobiotics by cytochrome P450","Drug metabolism - cytochrome P450","Drug metabolism - other enzymes","Biosynthesis of cofactors","Bile secretion","Chemical carcinogenesis - DNA adducts","Chemical carcinogenesis - receptor activation"]
["Pentose and glucuronate interconversions","Ascorbate and aldarate metabolism","Steroid hormone biosynthesis","Retinol metabolism","Porphyrin metabolism","Metabolism of xenobiotics by cytochrome P450","Drug metabolism - cytochrome P450","Drug metabolism - other enzymes","Biosynthesis of cofactors","Bile secretion","Chemical carcinogenesis - DNA adducts","Chemical carcinogenesis - receptor activation"]
["Pentose and glucuronate interconversions","Ascorbate and aldarate metabolism","Steroid hormone biosynthesis","Retinol metabolism","Porphyrin metabolism","Metabolism of xenobiotics by cytochrome P450","Drug metabolism - cytochrome P450","Drug metabolism - other enzymes","Biosynthesis of cofactors","Bile secretion","Chemical carcinogenesis - DNA adducts","Chemical carcinogenesis - receptor activation"]
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Diseases Linked via Similar GenesDiseases curated for genes most similar to UGT2A1 (see Related Genes above), that are NOT already directly curated for UGT2A1 itself -- a lead worth checking, not a confirmed association.