Human Gene PCBD2 (uc010jdz.3) Description and Page Index
  Description: Homo sapiens pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2 (PCBD2), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr5:134,240,810-134,298,336 Size: 57,527 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr5:134,240,830-134,296,371 Size: 55,542 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:134,240,810-134,298,336)mRNA (may differ from genome)Protein (130 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: PHS2_HUMAN
DESCRIPTION: RecName: Full=Pterin-4-alpha-carbinolamine dehydratase 2; Short=PHS 2; EC=4.2.1.96; AltName: Full=4-alpha-hydroxy-tetrahydropterin dehydratase 2; AltName: Full=DcoH-like protein DCoHm; AltName: Full=Dimerization cofactor of hepatocyte nuclear factor 1 from muscle; AltName: Full=HNF-1-alpha dimerization cofactor;
FUNCTION: Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2 (By similarity).
FUNCTION: Regulates the dimerization of homeodomain protein HNF-1- alpha and enhances its transcriptional activity.
CATALYTIC ACTIVITY: (6R)-6-(L-erythro-1,2-dihydroxypropyl)- 5,6,7,8-tetrahydro-4a-hydroxypterin = (6R)-6-(L-erythro-1,2- dihydroxypropyl)-7,8-dihydro-6H-pterin + H(2)O.
SUBUNIT: Homotetramer. Interacts with DYRK1B.
INTERACTION: Q9Y463:DYRK1B; NbExp=2; IntAct=EBI-634289, EBI-634187;
SIMILARITY: Belongs to the pterin-4-alpha-carbinolamine dehydratase family.
SEQUENCE CAUTION: Sequence=AAM18136.1; Type=Erroneous initiation;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PCBD2
CDC HuGE Published Literature: PCBD2

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.24 RPKM in Muscle - Skeletal
Total median expression: 118.24 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -5.6020-0.280 Picture PostScript Text
3' UTR -636.321965-0.324 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001533 - Trans/pterin_deHydtase

Pfam Domains:
PF01329 - Pterin 4 alpha carbinolamine dehydratase

SCOP Domains:
55248 - Pterin-4a-carbinolamine dehydratase (PCD)/dimerization cofactor of HNF1 (DCoH)

ModBase Predicted Comparative 3D Structure on Q9H0N5
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004505 phenylalanine 4-monooxygenase activity
GO:0005515 protein binding
GO:0008124 4-alpha-hydroxytetrahydrobiopterin dehydratase activity
GO:0016829 lyase activity

Biological Process:
GO:0006729 tetrahydrobiopterin biosynthetic process
GO:0045893 positive regulation of transcription, DNA-templated
GO:0051289 protein homotetramerization
GO:0051291 protein heterooligomerization
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005575 cellular_component
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  KJ894936 - Synthetic construct Homo sapiens clone ccsbBroadEn_04330 PCBD2 gene, encodes complete protein.
BC054021 - Homo sapiens pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2, mRNA (cDNA clone MGC:61862 IMAGE:6385036), complete cds.
AL136721 - Homo sapiens mRNA; cDNA DKFZp566K1946 (from clone DKFZp566K1946).
EU832290 - Synthetic construct Homo sapiens clone HAIB:100067319; DKFZo008B0527 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2 protein (PCBD2) gene, encodes complete protein.
EU832374 - Synthetic construct Homo sapiens clone HAIB:100067403; DKFZo004B0528 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2 protein (PCBD2) gene, encodes complete protein.
HQ257950 - Synthetic construct Homo sapiens clone IMAGE:100072259 Unknown protein gene, encodes complete protein.
AK098495 - Homo sapiens cDNA FLJ25629 fis, clone STM03715.
AF499009 - Homo sapiens HNF1-alpha dimerization cofactor (DCOHM) mRNA, complete cds.
JD457271 - Sequence 438295 from Patent EP1572962.
JD388586 - Sequence 369610 from Patent EP1572962.
JD374586 - Sequence 355610 from Patent EP1572962.
JD409325 - Sequence 390349 from Patent EP1572962.
JD489390 - Sequence 470414 from Patent EP1572962.
JD489391 - Sequence 470415 from Patent EP1572962.
JD242899 - Sequence 223923 from Patent EP1572962.
JD064624 - Sequence 45648 from Patent EP1572962.
JD266169 - Sequence 247193 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PHENYLALANINE-DEG1-PWY - phenylalanine degradation I (aerobic)
PWY3DJ-35549 - Biopterin recycling

-  Other Names for This Gene
  Alternate Gene Symbols: DCOH2, DCOHM, NM_032151, NP_115527, PHS2_HUMAN, Q8TD40, Q9H0N5
UCSC ID: uc010jdz.3
RefSeq Accession: NM_032151
Protein: Q9H0N5 (aka PHS2_HUMAN)
CCDS: CCDS43364.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_032151.4
exon count: 4CDS single in 3' UTR: no RNA size: 2395
ORF size: 393CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 971.00frame shift in genome: no % Coverage: 99.29
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.