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Aliases for PCBD2 Gene

Aliases for PCBD2 Gene

  • Pterin-4 Alpha-Carbinolamine Dehydratase 2 2 3 5
  • Pterin-4 Alpha-Carbinolamine Dehydratase/Dimerization Cofactor Of Hepatocyte Nuclear Factor 1 Alpha (TCF1) 2 2 3
  • 6-Pyruvoyl-Tetrahydropterin Synthase/Dimerization Cofactor Of Hepatocyte Nuclear Factor 1 Alpha (TCF1) 2 2 3
  • Dimerization Cofactor Of Hepatocyte Nuclear Factor 1 From Muscle 3 4
  • 4-Alpha-Hydroxy-Tetrahydropterin Dehydratase 2 3 4
  • HNF-1-Alpha Dimerization Cofactor 3 4
  • DcoH-Like Protein DCoHm 3 4
  • PHS 2 3 4
  • DCOH2 3 4
  • DCOHM 3 4
  • Dimerization Cofactor Of Hepatocyte Nuclear Factor 1 (HNF1) From Muscle 3
  • Dimerization Cofactor Of Hepatocyte Nuclear Factor 1 Alpha (TCF1) 3
  • Pterin-4-Alpha-Carbinolamine Dehydratase 2 3
  • EC 4.2.1.96 4
  • PHS2 3

External Ids for PCBD2 Gene

Previous GeneCards Identifiers for PCBD2 Gene

  • GC05P134269
  • GC05P134241

Summaries for PCBD2 Gene

GeneCards Summary for PCBD2 Gene

PCBD2 (Pterin-4 Alpha-Carbinolamine Dehydratase 2) is a Protein Coding gene. Among its related pathways are phenylalanine degradation/tyrosine biosynthesis. GO annotations related to this gene include phenylalanine 4-monooxygenase activity and 4-alpha-hydroxytetrahydrobiopterin dehydratase activity. An important paralog of this gene is PCBD1.

UniProtKB/Swiss-Prot for PCBD2 Gene

  • Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2 (By similarity).

  • Regulates the dimerization of homeodomain protein HNF-1-alpha and enhances its transcriptional activity.

Gene Wiki entry for PCBD2 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCBD2 Gene

Genomics for PCBD2 Gene

Regulatory Elements for PCBD2 Gene

Enhancers for PCBD2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F134901 0.8 ENCODE 5.5 -2.5 -2540 1.6 HDGF MXI1 WRNIP1 ASH2L MAX ZNF335 ZFHX2 POLR2A ETV6 EGR2 PCBD2 PIR60052
GH05F134964 0.9 ENCODE 4.5 +60.1 60075 1.7 ELF3 MLX ARID4B RAD21 YY1 RARA GATA4 CREM THAP11 MIXL1 PCBD2 CATSPER3 GC05P134934
GH05F134543 1.4 FANTOM5 Ensembl ENCODE 1.4 -360.1 -360071 3.3 TBP WRNIP1 EGR1 SCRT2 ZNF143 CREM EGR2 SMARCA5 ZNF488 REST JADE2 ENSG00000243648 CDKN2AIPNL ENSG00000248559 TXNDC15 CDKL3 PCBD2 GC05M134520 GC05M134578
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PCBD2 on UCSC Golden Path with GeneCards custom track

Promoters for PCBD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001290649 294 2401 PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143

Genomic Location for PCBD2 Gene

Chromosome:
5
Start:
134,904,906 bp from pter
End:
135,007,959 bp from pter
Size:
103,054 bases
Orientation:
Plus strand

Genomic View for PCBD2 Gene

Genes around PCBD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCBD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCBD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCBD2 Gene

Proteins for PCBD2 Gene

  • Protein details for PCBD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H0N5-PHS2_HUMAN
    Recommended name:
    Pterin-4-alpha-carbinolamine dehydratase 2
    Protein Accession:
    Q9H0N5
    Secondary Accessions:
    • Q8TD40

    Protein attributes for PCBD2 Gene

    Size:
    130 amino acids
    Molecular mass:
    14365 Da
    Quaternary structure:
    • Homotetramer. Interacts with DYRK1B.
    SequenceCaution:
    • Sequence=AAM18136.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PCBD2 Gene

neXtProt entry for PCBD2 Gene

Post-translational modifications for PCBD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PCBD2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PCBD2 Gene

Domains & Families for PCBD2 Gene

Protein Domains for PCBD2 Gene

Suggested Antigen Peptide Sequences for PCBD2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H0N5

UniProtKB/Swiss-Prot:

PHS2_HUMAN :
  • Belongs to the pterin-4-alpha-carbinolamine dehydratase family.
Family:
  • Belongs to the pterin-4-alpha-carbinolamine dehydratase family.
genes like me logo Genes that share domains with PCBD2: view

No data available for Gene Families for PCBD2 Gene

Function for PCBD2 Gene

Molecular function for PCBD2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
(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.
UniProtKB/Swiss-Prot Function:
Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2 (By similarity).
UniProtKB/Swiss-Prot Function:
Regulates the dimerization of homeodomain protein HNF-1-alpha and enhances its transcriptional activity.

Enzyme Numbers (IUBMB) for PCBD2 Gene

Gene Ontology (GO) - Molecular Function for PCBD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004505 phenylalanine 4-monooxygenase activity IEA --
GO:0005515 protein binding IPI 11980910
GO:0008124 4-alpha-hydroxytetrahydrobiopterin dehydratase activity IEA --
GO:0016829 lyase activity IEA --
genes like me logo Genes that share ontologies with PCBD2: view
genes like me logo Genes that share phenotypes with PCBD2: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PCBD2 Gene

Localization for PCBD2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PCBD2 gene
Compartment Confidence
mitochondrion 4
nucleus 3
plasma membrane 2
cytosol 2

Gene Ontology (GO) - Cellular Components for PCBD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005634 nucleus IEA --
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with PCBD2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PCBD2 Gene

Pathways & Interactions for PCBD2 Gene

genes like me logo Genes that share pathways with PCBD2: view

Pathways by source for PCBD2 Gene

1 BioSystems pathway for PCBD2 Gene

Gene Ontology (GO) - Biological Process for PCBD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006729 tetrahydrobiopterin biosynthetic process IEA --
GO:0045893 positive regulation of transcription, DNA-templated IDA 11980910
GO:0051289 protein homotetramerization IEA --
GO:0051291 protein heterooligomerization IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with PCBD2: view

No data available for SIGNOR curated interactions for PCBD2 Gene

Drugs & Compounds for PCBD2 Gene

(2) Drugs for PCBD2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
dihydrobiopterin Experimental Pharma 0

(2) Additional Compounds for PCBD2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4a-Carbinolamine tetrahydrobiopterin
  • 1,3,5-Benzenetriol
  • 1,3,5-Trihydroxybenzene
  • 1,3,5-Trihydroxybenzene anhydrate
  • 1,3,5-Trihydroxybenzene anhydrous
  • 1,3,5-Trihydroxybenzene dihydrate
79647-29-3
4a-hydroxytetrahydrobiopterin
  • (6R)-6-(L-erythro-1,2-Dihydroxypropyl)-5,6,7,8-tetrahydro-4a-hydroxypterin
  • 2-Amino-6-(1,2-dihydroxypropyl)-4a-hydroxy-5,6,7,8-tetrahydropteridin-4(4aH)-one
  • 2-Amino-6-(1,2-dihydroxypropyl)-5,6,7,8-tetrahydro-4a-hydroxy-4(4aH)-Pteridinone
  • 2-Amino-6-[(1R,2S)-1,2-dihydroxypropyl]-4a-hydroxy-1,5,6,7-tetrahydropteridin-4-one
  • 4a-Hydroxy-5,6,7,8-tetrahydrobiopterin
70110-58-6
genes like me logo Genes that share compounds with PCBD2: view

Transcripts for PCBD2 Gene

mRNA/cDNA for PCBD2 Gene

Unigene Clusters for PCBD2 Gene

Pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCBD2 Gene

No ASD Table

Relevant External Links for PCBD2 Gene

GeneLoc Exon Structure for
PCBD2
ECgene alternative splicing isoforms for
PCBD2

Expression for PCBD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PCBD2 Gene

mRNA differential expression in normal tissues according to GTEx for PCBD2 Gene

This gene is overexpressed in Muscle - Skeletal (x5.1).

Protein differential expression in normal tissues from HIPED for PCBD2 Gene

This gene is overexpressed in Ovary (9.8), Oral epithelium (8.9), and Gallbladder (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PCBD2 Gene



Protein tissue co-expression partners for PCBD2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PCBD2 Gene:

PCBD2

SOURCE GeneReport for Unigene cluster for PCBD2 Gene:

Hs.710014
genes like me logo Genes that share expression patterns with PCBD2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for PCBD2 Gene

Orthologs for PCBD2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PCBD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PCBD2 34 35
  • 98.46 (n)
cow
(Bos Taurus)
Mammalia PCBD2 34
  • 89.31 (n)
dog
(Canis familiaris)
Mammalia PCBD2 34 35
  • 84.59 (n)
rat
(Rattus norvegicus)
Mammalia Pcbd2 34
  • 81.25 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PCBD2 35
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pcbd2 34 16 35
  • 80.62 (n)
oppossum
(Monodelphis domestica)
Mammalia PCBD2 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves PCBD2 34 35
  • 77.67 (n)
lizard
(Anolis carolinensis)
Reptilia PCBD2 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pcbd2 34
  • 73.6 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.10188 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.514 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000439 34
  • 62.46 (n)
fruit fly
(Drosophila melanogaster)
Insecta Pcd 35
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pcbd-1 34 35
  • 64.07 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes omt2 34
  • 61.19 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 58 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1201 34
Species where no ortholog for PCBD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for PCBD2 Gene

ENSEMBL:
Gene Tree for PCBD2 (if available)
TreeFam:
Gene Tree for PCBD2 (if available)

Paralogs for PCBD2 Gene

Paralogs for PCBD2 Gene

(1) SIMAP similar genes for PCBD2 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for PCBD2 Gene

genes like me logo Genes that share paralogs with PCBD2: view

Variants for PCBD2 Gene

Sequence variations from dbSNP and Humsavar for PCBD2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs10036755 -- 134,940,433(+) TATAT(A/T)TTTTT intron-variant
rs10065218 -- 134,920,938(+) TGGGA(A/T)TACAG intron-variant
rs10075481 -- 134,925,589(+) GGCGC(A/G)GACTG intron-variant
rs10155566 -- 134,926,987(+) AGTAG(A/G)GTTTG intron-variant, upstream-variant-2KB
rs10452554 -- 134,925,785(+) AATTG(A/G)GCTGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PCBD2 Gene

Variant ID Type Subtype PubMed ID
nsv964940 CNV duplication 23825009
nsv950397 CNV duplication 24416366
nsv830494 CNV gain+loss 17160897
nsv830493 CNV loss 17160897
nsv823236 CNV gain 20364138
nsv819528 CNV loss 19587683
nsv599743 CNV gain+loss 21841781
nsv599742 CNV gain+loss 21841781
nsv599737 CNV gain+loss 21841781
nsv599736 CNV gain 21841781
nsv599735 CNV gain 21841781
esv2511005 CNV gain 19546169
esv22702 CNV gain+loss 19812545
dgv968n67 CNV gain 20364138
dgv10075n54 CNV gain 21841781

Variation tolerance for PCBD2 Gene

Residual Variation Intolerance Score: 43.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.19; 4.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PCBD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCBD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCBD2 Gene

Disorders for PCBD2 Gene

Relevant External Links for PCBD2

Genetic Association Database (GAD)
PCBD2
Human Genome Epidemiology (HuGE) Navigator
PCBD2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCBD2

No disorders were found for PCBD2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PCBD2 Gene

Publications for PCBD2 Gene

  1. Mirk protein kinase is activated by MKK3 and functions as a transcriptional activator of HNF1alpha. (PMID: 11980910) Lim S. … Friedman E. (J. Biol. Chem. 2002) 2 3 4 64
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  3. Many sequence variants affecting diversity of adult human height. (PMID: 18391951) Gudbjartsson D.F. … Stefansson K. (Nat. Genet. 2008) 3 46 64
  4. Biochemical and structural basis for partially redundant enzymatic and transcriptional functions of DCoH and DCoH2. (PMID: 15182178) Rose R.B. … Alber T. (Biochemistry 2004) 2 3 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for PCBD2 Gene

Sources for PCBD2 Gene

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