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: +
Position: hg19 chr5:134,240,830-134,296,371 Size: 55,542 Coding Exon Count: 4
Data last updated: 2013-06-14
Sequence and Links to Tools and Databases
Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Pterin-4-alpha-carbinolamine dehydratase 2; Short=PHS 2; EC=126.96.36.199; 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:
Comparative Toxicogenomics Database (CTD)
Common Gene Haplotype Alleles
Press "+" in the title bar above to open this section.
RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
Press "+" in the title bar above to open this section.
mRNA Secondary Structure of 3' and 5' UTRs
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
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.
Gene Ontology (GO) Annotations with Structured Vocabulary
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
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
(aka PHS2_HUMAN) Q9H0N5
Gene Model Information
4 CDS single in 3' UTR:
393 CDS single in intron:
Alignment % ID:
971.00 frame shift in genome:
has start codon:
stop codon in genome:
# of Alignments:
has end codon:
# AT/AC introns
end bleed into intron:
0 # strange splices:
for a detailed description of the fields of the table above.
Methods, Credits, and Use Restrictions
for details on how this gene model was made and data restrictions if any.