Gene Gene information from NCBI Gene database.
Entrez ID 84105
Gene name Pterin-4 alpha-carbinolamine dehydratase 2
Gene symbol PCBD2
Synonyms (NCBI Gene)
DCOH2DCOHMPHS2
Chromosome 5
Chromosome location 5q31.1
miRNA miRNA information provided by mirtarbase database.
637
miRTarBase ID miRNA Experiments Reference
MIRT655372 hsa-miR-6513-3p HITS-CLIP 23824327
MIRT655371 hsa-miR-1306-3p HITS-CLIP 23824327
MIRT655370 hsa-miR-3653-5p HITS-CLIP 23824327
MIRT655369 hsa-miR-3663-5p HITS-CLIP 23824327
MIRT655368 hsa-miR-6790-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 11980910, 20211142, 25416956, 32296183, 33961781
GO:0005739 Component Mitochondrion HTP 34800366
GO:0006729 Process Tetrahydrobiopterin biosynthetic process IEA
GO:0008124 Function 4-alpha-hydroxytetrahydrobiopterin dehydratase activity IBA
GO:0008124 Function 4-alpha-hydroxytetrahydrobiopterin dehydratase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609836 24474 ENSG00000132570
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF01329 Pterin_4a 33 126 Pterin 4 alpha carbinolamine dehydratase Domain
Sequence
Sequence length 130
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Folate biosynthesis
Metabolic pathways
 
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BULIMIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Mesothelioma Malignant Associate 20485525
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 20485525
★☆☆☆☆
Found in Text Mining only
Psychological Distress Associate 35916411
★☆☆☆☆
Found in Text Mining only
Rectal Neoplasms Associate 30964167
★☆☆☆☆
Found in Text Mining only