PCBD2 - pterin-4 alpha-carbinolamine dehydratase 2 Gene

Homo sapiens

Also known as PHS2; DCOH2; DCOHM

Gene ID: 84105 | Gene type: protein coding

About PCBD2

Cytogenetic location: 5q31.1 Genomic coordinates (GRCh38): 5:134,905,131-134,962,644 (from NCBI)

This gene has 4 transcripts (splice variants), 188 orthologues and 1 paralogue. Ubiquitous expression in heart (RPKM 3.0), kidney (RPKM 2.6) and 25 other tissues.

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]

PCBD2 Products(1)

mRNA	Protein	Name
NM_032151.5	NP_115527.3	pterin-4-alpha-carbinolamine dehydratase 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11980910	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	11980910	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PCBD2 Protein Structure

Pterin_4a

0
100
130 a.a.

Protein Preferred Names

Protein Names

pterin-4-alpha-carbinolamine dehydratase 2

4-alpha-hydroxy-tetrahydropterin dehydratase 2

PCBD2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PCBD2	Q9H0N5	MAGEA11	Homo sapiens	P43364-2	Y2H Prey Pooling	25416956
Intra	PCBD2	Q9H0N5	MAGEA6	Homo sapiens	P43360	Y2H Prey Pooling	32296183
Intra	PCBD2	Q9H0N5	MAGEA6	Homo sapiens	P43360	Y2H Array	32296183
Intra	PCBD2	Q9H0N5	CERS3	Homo sapiens	Q8IU89	Y2H Prey Pooling	32296183
Intra	PCBD2	Q9H0N5	CERS3	Homo sapiens	Q8IU89	Y2H Array	32296183
Intra	PCBD2	Q9H0N5	MAGEA11	Homo sapiens	P43364	Y2H Prey Pooling	32296183
Intra	PCBD2	Q9H0N5	MAGEA11	Homo sapiens	P43364	Y2H Array	32296183
Intra	PCBD2	Q9H0N5	SPG21	Homo sapiens	Q9NZD8	Validated Y2H	32296183
Intra	PCBD2	Q9H0N5	MRFAP1	Homo sapiens	Q9Y605	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Noonan Syndrome 9

NS9	Noonan Syndrome, Type 9

Maturity-Onset Diabetes Of The Young, Type 3

Maturity-Onset Diabetes Of The Young Type 3	MODY3
Mody, Type Iii	Mody Type 3
Mody, Type 3	Maturity-Onset Diabetes Of The Young 3
Mody-3	Diabetes Of The Young, Maturity-Onset, Type 3

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10114	PCBD2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PCBD2	MGD	MGI:1919812
Canis familiaris	PCBD2	VGNC	VGNC:51756
Macaca mulatta	PCBD2	VGNC	VGNC:75672

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