PCBD2 - pterin-4 alpha-carbinolamine dehydratase 2 Gene

Also Known as PHS2; DCOH2; DCOHM

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 84105

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 References Source
enables protein binding IPI
IPI: Inferred from physical interaction
11980910 GOA
Biological Process GO Annotation Evidence References 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

Pterin_4a: Pterin 4 alpha carbinolamine dehydratase (32 - 127)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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

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 Set / 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
Others PCBD2 NCBI