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

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

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		/	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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