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

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 DNA-templated transcription. Located in mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in heart (RPKM 3.0), kidney (RPKM 2.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q31.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (134905131..134962644)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (135432093..135489611)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (134240821..134298334)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MiR-3174 functions as an oncogene in rectal cancer by targeting PCBD2.
Title: MiR-3174 functions as an oncogene in rectal cancer by targeting PCBD2.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
PMID: 12646162 concludes Alu repeats interfere with splicing of DCOHM and CAVL such that transcripts containing exons of both genes exist.
Title: Cloning of a novel one-repeat calcium channel-like gene.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

RH69300 (e-PCR)
- UniSTS:31244

GDB:434012 (e-PCR)
- UniSTS:157204

A007G12 (e-PCR)
- UniSTS:11799

WI-11839 (e-PCR)
- UniSTS:6430

L17705 (e-PCR)
- UniSTS:66091

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2279 (e-PCR)
- UniSTS:473907

D10S16 (e-PCR)
- UniSTS:155756

D1S1423 (e-PCR)
- UniSTS:149619

L17877 (e-PCR)
- UniSTS:61334

D5S2056 (e-PCR), detects polymorphism
- UniSTS:44453

SGC33588 (e-PCR)
- UniSTS:2215

PMC55343P10 (e-PCR)
- UniSTS:273323

PMC55343P12 (e-PCR)
- UniSTS:273324

PMC55343P9 (e-PCR)
- UniSTS:273332

RH44701 (e-PCR)
- UniSTS:36539

D5S1608E (e-PCR)
- UniSTS:151029

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 4-alpha-hydroxytetrahydrobiopterin dehydratase activity	IBA Inferred from Biological aspect of Ancestor more info
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

Process	Evidence Code	Pubs
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in tetrahydrobiopterin biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in tyrosine biosynthetic process, by oxidation of phenylalanine	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in mitochondrion	HTP more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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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

EC 4.2.1.96

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)

NM_032151.5 → NP_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

UniProtKB/TrEMBL

H0YA52

Related

ENSP00000254908.6, ENST00000254908.11

Conserved Domains (1) summary

cd00914
Location:51 → 126

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 ...