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PCBD2 (pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2)

Identity

Alias_names6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2
pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2
Alias_symbol (synonym)DCOHM
DCOH2
Other aliasPHS2
HGNC (Hugo) PCBD2
LocusID (NCBI) 84105
Atlas_Id 71689
Location 5q31.1  [Link to chromosome band 5q31]
Location_base_pair Starts at 134240810 and ends at 134298336 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PCBD2 (5q31.1) / GSTZ1 (14q24.3)PMPCB (7q22.1) / PCBD2 (5q31.1)SYNE1 (6q25.1) / PCBD2 (5q31.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PCBD2   24474
Cards
Entrez_Gene (NCBI)PCBD2  84105  pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2
AliasesDCOH2; DCOHM; PHS2
GeneCards (Weizmann)PCBD2
Ensembl hg19 (Hinxton) [Gene_View]  chr5:134240810-134298336 [Contig_View]  PCBD2 [Vega]
Ensembl hg38 (Hinxton) [Gene_View]  chr5:134240810-134298336 [Contig_View]  PCBD2 [Vega]
TCGA cBioPortalPCBD2
AceView (NCBI)PCBD2
Genatlas (Paris)PCBD2
WikiGenes84105
SOURCE (Princeton)PCBD2
Genetics Home Reference (NIH)PCBD2
Genomic and cartography
GoldenPath hg19 (UCSC)PCBD2  -     chr5:134240810-134298336 +  5q31.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PCBD2  -     5q31.1   [Description]    (hg38-Dec_2013)
EnsemblPCBD2 - 5q31.1 [CytoView hg19]  PCBD2 - 5q31.1 [CytoView hg38]
Mapping of homologs : NCBIPCBD2 [Mapview hg19]  PCBD2 [Mapview hg38]
OMIM609836   
Gene and transcription
Genbank (Entrez)AF499009 AK098495 AL136721 BC054021 BU730195
RefSeq transcript (Entrez)NM_032151
RefSeq genomic (Entrez)NC_000005 NC_018916 NT_034772 NW_004929323
Consensus coding sequences : CCDS (NCBI)PCBD2
Cluster EST : UnigeneHs.710014 [ NCBI ]
CGAP (NCI)Hs.710014
Gene ExpressionPCBD2 [ NCBI-GEO ]   PCBD2 [ EBI - ARRAY_EXPRESS ]   PCBD2 [ SEEK ]   PCBD2 [ MEM ]
Gene Expression Viewer (FireBrowse)PCBD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84105
GTEX Portal (Tissue expression)PCBD2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H0N5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H0N5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H0N5
Splice isoforms : SwissVarQ9H0N5
Catalytic activity : Enzyme4.2.1.96 [ Enzyme-Expasy ]   4.2.1.964.2.1.96 [ IntEnz-EBI ]   4.2.1.96 [ BRENDA ]   4.2.1.96 [ KEGG ]   
PhosPhoSitePlusQ9H0N5
Domains : Interpro (EBI)Trans/pterin_deHydtase   
Domain families : Pfam (Sanger)Pterin_4a (PF01329)   
Domain families : Pfam (NCBI)pfam01329   
Conserved Domain (NCBI)PCBD2
DMDM Disease mutations84105
Blocks (Seattle)PCBD2
PDB (SRS)4C45   
PDB (PDBSum)4C45   
PDB (IMB)4C45   
PDB (RSDB)4C45   
Structural Biology KnowledgeBase4C45   
SCOP (Structural Classification of Proteins)4C45   
CATH (Classification of proteins structures)4C45   
SuperfamilyQ9H0N5
Peptide AtlasQ9H0N5
HPRD17824
IPIIPI00874020   IPI00930639   
Protein Interaction databases
DIP (DOE-UCLA)Q9H0N5
IntAct (EBI)Q9H0N5
BioGRIDPCBD2
STRING (EMBL)PCBD2
ZODIACPCBD2
Ontologies - Pathways
QuickGOQ9H0N5
Ontology : AmiGOphenylalanine 4-monooxygenase activity  protein binding  cellular_component  nucleus  mitochondrion  tetrahydrobiopterin biosynthetic process  4-alpha-hydroxytetrahydrobiopterin dehydratase activity  positive regulation of transcription, DNA-templated  protein homotetramerization  protein heterooligomerization  oxidation-reduction process  
Ontology : EGO-EBIphenylalanine 4-monooxygenase activity  protein binding  cellular_component  nucleus  mitochondrion  tetrahydrobiopterin biosynthetic process  4-alpha-hydroxytetrahydrobiopterin dehydratase activity  positive regulation of transcription, DNA-templated  protein homotetramerization  protein heterooligomerization  oxidation-reduction process  
NDEx NetworkPCBD2
Atlas of Cancer Signalling NetworkPCBD2
Wikipedia pathwaysPCBD2
Orthology - Evolution
OrthoDB84105
Phylogenetic Trees/Animal Genes : TreeFamPCBD2
HOVERGENQ9H0N5
HOGENOMQ9H0N5
Homologs : HomoloGenePCBD2
Homology/Alignments : Family Browser (UCSC)PCBD2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPCBD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PCBD2
dbVarPCBD2
ClinVarPCBD2
1000_GenomesPCBD2 
Exome Variant ServerPCBD2
ExAC (Exome Aggregation Consortium)PCBD2 (select the gene name)
Genetic variants : HAPMAP84105
Genomic Variants (DGV)PCBD2 [DGVbeta]
DECIPHER (Syndromes)5:134240810-134298336  
CONAN: Copy Number AnalysisPCBD2 
Mutations
ICGC Data PortalPCBD2 
TCGA Data PortalPCBD2 
Broad Tumor PortalPCBD2
OASIS PortalPCBD2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPCBD2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPCBD2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch PCBD2
DgiDB (Drug Gene Interaction Database)PCBD2
DoCM (Curated mutations)PCBD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PCBD2 (select a term)
intoGenPCBD2
Cancer3DPCBD2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609836   
Orphanet
MedgenPCBD2
Genetic Testing Registry PCBD2
NextProtQ9H0N5 [Medical]
TSGene84105
GENETestsPCBD2
Huge Navigator PCBD2 [HugePedia]
snp3D : Map Gene to Disease84105
BioCentury BCIQPCBD2
ClinGenPCBD2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84105
Chemical/Pharm GKB GenePA142671197
Clinical trialPCBD2
Miscellaneous
canSAR (ICR)PCBD2 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePCBD2
EVEXPCBD2
GoPubMedPCBD2
iHOPPCBD2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:37:52 CET 2017

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