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PCBD2 pterin-4 alpha-carbinolamine dehydratase 2 [ Homo sapiens (human) ]

Gene ID: 84105, updated on 6-Nov-2022

Summary

Official Symbol
PCBD2provided by HGNC
Official Full Name
pterin-4 alpha-carbinolamine dehydratase 2provided by HGNC
Primary source
HGNC:HGNC:24474
See related
Ensembl:ENSG00000132570 MIM:609836; AllianceGenome:HGNC:24474
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PHS2; DCOH2; DCOHM
Summary
Predicted to enable 4-alpha-hydroxytetrahydrobiopterin dehydratase activity. Involved in positive regulation of transcription, DNA-templated. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in heart (RPKM 3.0), kidney (RPKM 2.6) and 25 other tissues See more
Orthologs
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Genomic context

See PCBD2 in Genome Data Viewer
Location:
5q31.1
Exon count:
4
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (134905131..134962644)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (135432093..135489611)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (134240821..134298334)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene chromosome 5 open reading frame 24 Neighboring gene uncharacterized LOC124901071 Neighboring gene thioredoxin domain containing 15 Neighboring gene Sharpr-MPRA regulatory region 11731 Neighboring gene MT-ND4L pseudogene 30 Neighboring gene MT-CYB pseudogene 18 Neighboring gene MT-ND5 pseudogene 11 Neighboring gene MT-ND4 pseudogene 12 Neighboring gene MT-ND3 pseudogene 25 Neighboring gene MT-ND6 pseudogene 4 Neighboring gene cation channel sperm associated 3 Neighboring gene PITX1 antisense RNA 1 Neighboring gene paired like homeodomain 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Phenotypes

EBI GWAS Catalog

Description
Genetic variants associated with disordered eating.
EBI GWAS Catalog
Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer.
EBI GWAS Catalog
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
EBI GWAS Catalog
Many sequence variants affecting diversity of adult human height.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 4-alpha-hydroxytetrahydrobiopterin dehydratase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
 
enables phenylalanine 4-monooxygenase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
pterin-4-alpha-carbinolamine dehydratase 2
Names
4-alpha-hydroxy-tetrahydropterin dehydratase 2
6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2
DcoH-like protein DCoHm
HNF-1-alpha dimerization cofactor
PHS 2
dimerization cofactor of hepatocyte nuclear factor 1 (HNF1) from muscle
dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)
dimerization cofactor of hepatocyte nuclear factor 1 from muscle
pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2
NP_115527.3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_032151.5NP_115527.3  pterin-4-alpha-carbinolamine dehydratase 2

    See identical proteins and their annotated locations for NP_115527.3

    Status: VALIDATED

    Source sequence(s)
    AC008670, BC054021, BU730195
    Consensus CDS
    CCDS43364.1
    UniProtKB/Swiss-Prot
    Q8TD40, Q9H0N5
    Related
    ENSP00000254908.6, ENST00000254908.11
    Conserved Domains (1) summary
    cd00914
    Location:51126
    PCD_DCoH_subfamily_b; PCD_DCoH: The bifunctional protein pterin-4alpha-carbinolamine dehydratase (PCD), also known as DCoH (dimerization cofactor of hepatocyte nuclear factor-1), is both a transcription activator and a metabolic enzyme. DCoH stimulates gene expression by ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    134905131..134962644
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    135432093..135489611
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)