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PDHA2 (pyruvate dehydrogenase (lipoamide) alpha 2)

Identity

Alias_namesPDHAL
Other alias
HGNC (Hugo) PDHA2
LocusID (NCBI) 5161
Atlas_Id 41682
Location 4q22.3  [Link to chromosome band 4q22]
Location_base_pair Starts at 95840088 and ends at 95841474 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CIAPIN1 (16q21) / PDHA2 (4q22.3)

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)PDHA2   8807
Cards
Entrez_Gene (NCBI)PDHA2  5161  pyruvate dehydrogenase (lipoamide) alpha 2
AliasesPDHAL
GeneCards (Weizmann)PDHA2
Ensembl hg19 (Hinxton)ENSG00000163114 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163114 [Gene_View]  chr4:95840088-95841474 [Contig_View]  PDHA2 [Vega]
ICGC DataPortalENSG00000163114
TCGA cBioPortalPDHA2
AceView (NCBI)PDHA2
Genatlas (Paris)PDHA2
WikiGenes5161
SOURCE (Princeton)PDHA2
Genetics Home Reference (NIH)PDHA2
Genomic and cartography
GoldenPath hg38 (UCSC)PDHA2  -     chr4:95840088-95841474 +  4q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PDHA2  -     4q22.3   [Description]    (hg19-Feb_2009)
EnsemblPDHA2 - 4q22.3 [CytoView hg19]  PDHA2 - 4q22.3 [CytoView hg38]
Mapping of homologs : NCBIPDHA2 [Mapview hg19]  PDHA2 [Mapview hg38]
OMIM179061   
Gene and transcription
Genbank (Entrez)AK313872 BC030697 BC066953 BC094760 BC119656
RefSeq transcript (Entrez)NM_005390
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PDHA2
Cluster EST : UnigeneHs.131361 [ NCBI ]
CGAP (NCI)Hs.131361
Alternative Splicing GalleryENSG00000163114
Gene ExpressionPDHA2 [ NCBI-GEO ]   PDHA2 [ EBI - ARRAY_EXPRESS ]   PDHA2 [ SEEK ]   PDHA2 [ MEM ]
Gene Expression Viewer (FireBrowse)PDHA2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5161
GTEX Portal (Tissue expression)PDHA2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP29803   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP29803  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP29803
Splice isoforms : SwissVarP29803
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 ]   
PhosPhoSitePlusP29803
Domains : Interpro (EBI)DH_E1    Pyrv_DH_E1_asu_subgrp-y    THDP-binding   
Domain families : Pfam (Sanger)E1_dh (PF00676)   
Domain families : Pfam (NCBI)pfam00676   
Conserved Domain (NCBI)PDHA2
DMDM Disease mutations5161
Blocks (Seattle)PDHA2
SuperfamilyP29803
Human Protein AtlasENSG00000163114
Peptide AtlasP29803
HPRD01531
IPIIPI00024087   
Protein Interaction databases
DIP (DOE-UCLA)P29803
IntAct (EBI)P29803
FunCoupENSG00000163114
BioGRIDPDHA2
STRING (EMBL)PDHA2
ZODIACPDHA2
Ontologies - Pathways
QuickGOP29803
Ontology : AmiGOpyruvate dehydrogenase (acetyl-transferring) activity  nucleus  nucleolus  mitochondrion  mitochondrion  mitochondrial matrix  glucose metabolic process  acetyl-CoA biosynthetic process from pyruvate  pyruvate metabolic process  tricarboxylic acid cycle  pyruvate dehydrogenase (NAD+) activity  pyruvate dehydrogenase complex  
Ontology : EGO-EBIpyruvate dehydrogenase (acetyl-transferring) activity  nucleus  nucleolus  mitochondrion  mitochondrion  mitochondrial matrix  glucose metabolic process  acetyl-CoA biosynthetic process from pyruvate  pyruvate metabolic process  tricarboxylic acid cycle  pyruvate dehydrogenase (NAD+) activity  pyruvate dehydrogenase complex  
Pathways : KEGGGlycolysis / Gluconeogenesis    Citrate cycle (TCA cycle)    Pyruvate metabolism    HIF-1 signaling pathway   
NDEx NetworkPDHA2
Atlas of Cancer Signalling NetworkPDHA2
Wikipedia pathwaysPDHA2
Orthology - Evolution
OrthoDB5161
GeneTree (enSembl)ENSG00000163114
Phylogenetic Trees/Animal Genes : TreeFamPDHA2
HOVERGENP29803
HOGENOMP29803
Homologs : HomoloGenePDHA2
Homology/Alignments : Family Browser (UCSC)PDHA2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPDHA2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PDHA2
dbVarPDHA2
ClinVarPDHA2
1000_GenomesPDHA2 
Exome Variant ServerPDHA2
ExAC (Exome Aggregation Consortium)PDHA2 (select the gene name)
Genetic variants : HAPMAP5161
Genomic Variants (DGV)PDHA2 [DGVbeta]
DECIPHERPDHA2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPDHA2 
Mutations
ICGC Data PortalPDHA2 
TCGA Data PortalPDHA2 
Broad Tumor PortalPDHA2
OASIS PortalPDHA2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPDHA2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPDHA2
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 PDHA2
DgiDB (Drug Gene Interaction Database)PDHA2
DoCM (Curated mutations)PDHA2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PDHA2 (select a term)
intoGenPDHA2
Cancer3DPDHA2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM179061   
Orphanet
MedgenPDHA2
Genetic Testing Registry PDHA2
NextProtP29803 [Medical]
TSGene5161
GENETestsPDHA2
Target ValidationPDHA2
Huge Navigator PDHA2 [HugePedia]
snp3D : Map Gene to Disease5161
BioCentury BCIQPDHA2
ClinGenPDHA2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5161
Chemical/Pharm GKB GenePA33151
Clinical trialPDHA2
Miscellaneous
canSAR (ICR)PDHA2 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePDHA2
EVEXPDHA2
GoPubMedPDHA2
iHOPPDHA2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:10:21 CEST 2017

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