PCBD2 (pterin-4 alpha-carbinolamine dehydratase 2)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 84105 |
| Gene name | Pterin-4 alpha-carbinolamine dehydratase 2 |
| Gene symbol | PCBD2 |
| Synonyms (NCBI Gene) |
DCOH2DCOHMPHS2
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| Chromosome | 5 |
| Chromosome location | 5q31.1 |
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miRNA
miRNA information provided by mirtarbase database.
637
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q9H0N5 | ||||||||||
| Protein name | Pterin-4-alpha-carbinolamine dehydratase 2 (PHS 2) (EC 4.2.1.96) (4-alpha-hydroxy-tetrahydropterin dehydratase 2) (DcoH-like protein DCoHm) (Dimerization cofactor of hepatocyte nuclear factor 1 from muscle) (HNF-1-alpha dimerization cofactor) | ||||||||||
| Protein function | Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2 (By similarity). ; Regulates the dimerization of homeodomain protein HNF-1-alpha | ||||||||||
| PDB | 4C45 | ||||||||||
| Family and domains |
Pfam
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| Sequence |
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| Sequence length | 130 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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)
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