Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

PDHB (pyruvate dehydrogenase (lipoamide) beta)

Identity

Other aliasPDHBD
PDHE1-B
PHE1B
HGNC (Hugo) PDHB
LocusID (NCBI) 5162
Atlas_Id 71801
Location 3p14.3  [Link to chromosome band 3p14]
Location_base_pair Starts at 58413357 and ends at 58419579 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PDHB (3p14.3) / RUFY3 (4q13.3)PTPRS (19p13.3) / PDHB (3p14.3)

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)PDHB   8808
Cards
Entrez_Gene (NCBI)PDHB  5162  pyruvate dehydrogenase (lipoamide) beta
AliasesPDHBD; PDHE1-B; PHE1B
GeneCards (Weizmann)PDHB
Ensembl hg19 (Hinxton)ENSG00000168291 [Gene_View]  chr3:58413357-58419579 [Contig_View]  PDHB [Vega]
Ensembl hg38 (Hinxton)ENSG00000168291 [Gene_View]  chr3:58413357-58419579 [Contig_View]  PDHB [Vega]
ICGC DataPortalENSG00000168291
TCGA cBioPortalPDHB
AceView (NCBI)PDHB
Genatlas (Paris)PDHB
WikiGenes5162
SOURCE (Princeton)PDHB
Genetics Home Reference (NIH)PDHB
Genomic and cartography
GoldenPath hg19 (UCSC)PDHB  -     chr3:58413357-58419579 -  3p14.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PDHB  -     3p14.3   [Description]    (hg38-Dec_2013)
EnsemblPDHB - 3p14.3 [CytoView hg19]  PDHB - 3p14.3 [CytoView hg38]
Mapping of homologs : NCBIPDHB [Mapview hg19]  PDHB [Mapview hg38]
OMIM179060   614111   
Gene and transcription
Genbank (Entrez)AB209241 AK225569 AK225621 AK293153 AK311514
RefSeq transcript (Entrez)NM_000925 NM_001173468
RefSeq genomic (Entrez)NC_000003 NC_018914 NG_016860 NT_022517 NW_004929309
Consensus coding sequences : CCDS (NCBI)PDHB
Cluster EST : UnigeneHs.161357 [ NCBI ]
CGAP (NCI)Hs.161357
Alternative Splicing GalleryENSG00000168291
Gene ExpressionPDHB [ NCBI-GEO ]   PDHB [ EBI - ARRAY_EXPRESS ]   PDHB [ SEEK ]   PDHB [ MEM ]
Gene Expression Viewer (FireBrowse)PDHB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5162
GTEX Portal (Tissue expression)PDHB
Protein : pattern, domain, 3D structure
UniProt/SwissProtP11177   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP11177  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP11177
Splice isoforms : SwissVarP11177
Catalytic activity : Enzyme1.2.4.1 [ Enzyme-Expasy ]   1.2.4.11.2.4.1 [ IntEnz-EBI ]   1.2.4.1 [ BRENDA ]   1.2.4.1 [ KEGG ]   
PhosPhoSitePlusP11177
Domains : Interpro (EBI)PDHB    THDP-binding    Transketo_C/Pyr-ferredox_oxred    Transketolase-like_Pyr-bd    Transketolase_C   
Domain families : Pfam (Sanger)Transket_pyr (PF02779)    Transketolase_C (PF02780)   
Domain families : Pfam (NCBI)pfam02779    pfam02780   
Domain families : Smart (EMBL)Transket_pyr (SM00861)  
Conserved Domain (NCBI)PDHB
DMDM Disease mutations5162
Blocks (Seattle)PDHB
PDB (SRS)1NI4    2OZL    3EXE    3EXF    3EXG    3EXH    3EXI   
PDB (PDBSum)1NI4    2OZL    3EXE    3EXF    3EXG    3EXH    3EXI   
PDB (IMB)1NI4    2OZL    3EXE    3EXF    3EXG    3EXH    3EXI   
PDB (RSDB)1NI4    2OZL    3EXE    3EXF    3EXG    3EXH    3EXI   
Structural Biology KnowledgeBase1NI4    2OZL    3EXE    3EXF    3EXG    3EXH    3EXI   
SCOP (Structural Classification of Proteins)1NI4    2OZL    3EXE    3EXF    3EXG    3EXH    3EXI   
CATH (Classification of proteins structures)1NI4    2OZL    3EXE    3EXF    3EXG    3EXH    3EXI   
SuperfamilyP11177
Human Protein AtlasENSG00000168291
Peptide AtlasP11177
HPRD01530
IPIIPI00003925   IPI00549885   IPI00555722   IPI00946404   IPI00947319   IPI00947129   
Protein Interaction databases
DIP (DOE-UCLA)P11177
IntAct (EBI)P11177
FunCoupENSG00000168291
BioGRIDPDHB
STRING (EMBL)PDHB
ZODIACPDHB
Ontologies - Pathways
QuickGOP11177
Ontology : AmiGOpyruvate dehydrogenase activity  pyruvate dehydrogenase (acetyl-transferring) activity  protein binding  nucleus  nucleoplasm  mitochondrion  mitochondrial matrix  glucose metabolic process  acetyl-CoA biosynthetic process from pyruvate  pyruvate metabolic process  tricarboxylic acid cycle  regulation of acetyl-CoA biosynthetic process from pyruvate  cellular metabolic process  small molecule metabolic process  pyruvate dehydrogenase complex  extracellular exosome  
Ontology : EGO-EBIpyruvate dehydrogenase activity  pyruvate dehydrogenase (acetyl-transferring) activity  protein binding  nucleus  nucleoplasm  mitochondrion  mitochondrial matrix  glucose metabolic process  acetyl-CoA biosynthetic process from pyruvate  pyruvate metabolic process  tricarboxylic acid cycle  regulation of acetyl-CoA biosynthetic process from pyruvate  cellular metabolic process  small molecule metabolic process  pyruvate dehydrogenase complex  extracellular exosome  
Pathways : KEGGGlycolysis / Gluconeogenesis    Citrate cycle (TCA cycle)    Pyruvate metabolism    HIF-1 signaling pathway   
NDEx NetworkPDHB
Atlas of Cancer Signalling NetworkPDHB
Wikipedia pathwaysPDHB
Orthology - Evolution
OrthoDB5162
GeneTree (enSembl)ENSG00000168291
Phylogenetic Trees/Animal Genes : TreeFamPDHB
HOVERGENP11177
HOGENOMP11177
Homologs : HomoloGenePDHB
Homology/Alignments : Family Browser (UCSC)PDHB
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPDHB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PDHB
dbVarPDHB
ClinVarPDHB
1000_GenomesPDHB 
Exome Variant ServerPDHB
ExAC (Exome Aggregation Consortium)PDHB (select the gene name)
Genetic variants : HAPMAP5162
Genomic Variants (DGV)PDHB [DGVbeta]
DECIPHER (Syndromes)3:58413357-58419579  ENSG00000168291
CONAN: Copy Number AnalysisPDHB 
Mutations
ICGC Data PortalPDHB 
TCGA Data PortalPDHB 
Broad Tumor PortalPDHB
OASIS PortalPDHB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPDHB  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPDHB
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch PDHB
DgiDB (Drug Gene Interaction Database)PDHB
DoCM (Curated mutations)PDHB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PDHB (select a term)
intoGenPDHB
Cancer3DPDHB(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM179060    614111   
Orphanet19806   
MedgenPDHB
Genetic Testing Registry PDHB
NextProtP11177 [Medical]
TSGene5162
GENETestsPDHB
Huge Navigator PDHB [HugePedia]
snp3D : Map Gene to Disease5162
BioCentury BCIQPDHB
ClinGenPDHB
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5162
Chemical/Pharm GKB GenePA33152
Clinical trialPDHB
Miscellaneous
canSAR (ICR)PDHB (select the gene name)
Probes
Litterature
PubMed57 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePDHB
EVEXPDHB
GoPubMedPDHB
iHOPPDHB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 12:38:15 CET 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.