Log in to save this analysis

Save This Analysis

Gene Gene information from NCBI Gene database.
Entrez ID 646625
Gene name Ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase
Gene symbol URAD
Synonyms (NCBI Gene)
PRHOXNB
Chromosome 13
Chromosome location 13q12.2
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8 Show/Hide all (8)
GO ID Ontology Definition Evidence Reference
GO:0000255 Process Allantoin metabolic process IEA
GO:0005777 Component Peroxisome IEA
GO:0006144 Process Purine nucleobase metabolic process IEA
GO:0016829 Function Lyase activity IEA
GO:0016831 Function Carboxy-lyase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615804 17785 ENSG00000183463
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A6NGE7
Protein name Putative 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase (OHCU decarboxylase) (EC 4.1.1.97) (Parahox neighbor) (Ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase)
Protein function Catalyzes the stereoselective decarboxylation of 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline (OHCU) to (S)-allantoin.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09349 OHCU_decarbox 7 → 163 OHCU decarboxylase Domain
Tissue specificity TISSUE SPECIFICITY: Apparently not expressed.
Sequence
Sequence length 173
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway
Purine metabolism
Metabolic pathways
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
MAJOR DEPRESSIVE DISORDER — GWAS catalog 34586374
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER DISEASE — GWAS catalog 33608531, 38036781
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations