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PGAM5 (PGAM family member 5, mitochondrial serine/threonine protein phosphatase)

Identity

Alias_namesphosphoglycerate mutase family member 5
PGAM family member 5, serine/threonine protein phosphatase, mitochondrial
Alias_symbol (synonym)MGC5352
BXLBv68
Other aliasBXLBV68
HGNC (Hugo) PGAM5
LocusID (NCBI) 192111
Atlas_Id 71855
Location 12q24.33  [Link to chromosome band 12q24]
Location_base_pair Starts at 132710807 and ends at 132722737 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
NINL (20p11.21) / PGAM5 (12q24.33)PGAM5 (12q24.33) / EP400 (12q24.33)PGAM5 (12q24.33) / IDS (Xq28)

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)PGAM5   28763
Cards
Entrez_Gene (NCBI)PGAM5  192111  PGAM family member 5, mitochondrial serine/threonine protein phosphatase
AliasesBXLBV68
GeneCards (Weizmann)PGAM5
Ensembl hg19 (Hinxton)ENSG00000247077 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000247077 [Gene_View]  chr12:132710807-132722737 [Contig_View]  PGAM5 [Vega]
ICGC DataPortalENSG00000247077
TCGA cBioPortalPGAM5
AceView (NCBI)PGAM5
Genatlas (Paris)PGAM5
WikiGenes192111
SOURCE (Princeton)PGAM5
Genetics Home Reference (NIH)PGAM5
Genomic and cartography
GoldenPath hg38 (UCSC)PGAM5  -     chr12:132710807-132722737 +  12q24.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PGAM5  -     12q24.33   [Description]    (hg19-Feb_2009)
EnsemblPGAM5 - 12q24.33 [CytoView hg19]  PGAM5 - 12q24.33 [CytoView hg38]
Mapping of homologs : NCBIPGAM5 [Mapview hg19]  PGAM5 [Mapview hg38]
OMIM614939   
Gene and transcription
Genbank (Entrez)AF357523 AK097688 BC008196 BC047906 CA307621
RefSeq transcript (Entrez)NM_001170543 NM_001170544 NM_138575
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PGAM5
Cluster EST : UnigeneHs.102558 [ NCBI ]
CGAP (NCI)Hs.102558
Alternative Splicing GalleryENSG00000247077
Gene ExpressionPGAM5 [ NCBI-GEO ]   PGAM5 [ EBI - ARRAY_EXPRESS ]   PGAM5 [ SEEK ]   PGAM5 [ MEM ]
Gene Expression Viewer (FireBrowse)PGAM5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)192111
GTEX Portal (Tissue expression)PGAM5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96HS1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96HS1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96HS1
Splice isoforms : SwissVarQ96HS1
Catalytic activity : Enzyme3.1.3.16 [ Enzyme-Expasy ]   3.1.3.163.1.3.16 [ IntEnz-EBI ]   3.1.3.16 [ BRENDA ]   3.1.3.16 [ KEGG ]   
PhosPhoSitePlusQ96HS1
Domains : Interpro (EBI)His_Pase_superF_clade-1    His_PPase_superfam   
Domain families : Pfam (Sanger)His_Phos_1 (PF00300)   
Domain families : Pfam (NCBI)pfam00300   
Domain families : Smart (EMBL)PGAM (SM00855)  
Conserved Domain (NCBI)PGAM5
DMDM Disease mutations192111
Blocks (Seattle)PGAM5
PDB (SRS)3MXO    3O0T   
PDB (PDBSum)3MXO    3O0T   
PDB (IMB)3MXO    3O0T   
PDB (RSDB)3MXO    3O0T   
Structural Biology KnowledgeBase3MXO    3O0T   
SCOP (Structural Classification of Proteins)3MXO    3O0T   
CATH (Classification of proteins structures)3MXO    3O0T   
SuperfamilyQ96HS1
Human Protein AtlasENSG00000247077
Peptide AtlasQ96HS1
HPRD14681
IPIIPI00908630   
Protein Interaction databases
DIP (DOE-UCLA)Q96HS1
IntAct (EBI)Q96HS1
FunCoupENSG00000247077
BioGRIDPGAM5
STRING (EMBL)PGAM5
ZODIACPGAM5
Ontologies - Pathways
QuickGOQ96HS1
Ontology : AmiGOGTPase activator activity  mitochondrion  mitochondrial outer membrane  protein dephosphorylation  signal transduction  signal transducer, downstream of receptor, with serine/threonine phosphatase activity  integral component of membrane  phosphatase activity  protein complex binding  positive regulation of GTPase activity  necroptotic process  
Ontology : EGO-EBIGTPase activator activity  mitochondrion  mitochondrial outer membrane  protein dephosphorylation  signal transduction  signal transducer, downstream of receptor, with serine/threonine phosphatase activity  integral component of membrane  phosphatase activity  protein complex binding  positive regulation of GTPase activity  necroptotic process  
Pathways : KEGGTNF signaling pathway   
NDEx NetworkPGAM5
Atlas of Cancer Signalling NetworkPGAM5
Wikipedia pathwaysPGAM5
Orthology - Evolution
OrthoDB192111
GeneTree (enSembl)ENSG00000247077
Phylogenetic Trees/Animal Genes : TreeFamPGAM5
HOVERGENQ96HS1
HOGENOMQ96HS1
Homologs : HomoloGenePGAM5
Homology/Alignments : Family Browser (UCSC)PGAM5
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPGAM5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PGAM5
dbVarPGAM5
ClinVarPGAM5
1000_GenomesPGAM5 
Exome Variant ServerPGAM5
ExAC (Exome Aggregation Consortium)PGAM5 (select the gene name)
Genetic variants : HAPMAP192111
Genomic Variants (DGV)PGAM5 [DGVbeta]
DECIPHERPGAM5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPGAM5 
Mutations
ICGC Data PortalPGAM5 
TCGA Data PortalPGAM5 
Broad Tumor PortalPGAM5
OASIS PortalPGAM5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPGAM5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPGAM5
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
BioMutasearch PGAM5
DgiDB (Drug Gene Interaction Database)PGAM5
DoCM (Curated mutations)PGAM5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PGAM5 (select a term)
intoGenPGAM5
Cancer3DPGAM5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614939   
Orphanet
MedgenPGAM5
Genetic Testing Registry PGAM5
NextProtQ96HS1 [Medical]
TSGene192111
GENETestsPGAM5
Target ValidationPGAM5
Huge Navigator PGAM5 [HugePedia]
snp3D : Map Gene to Disease192111
BioCentury BCIQPGAM5
ClinGenPGAM5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD192111
Chemical/Pharm GKB GenePA143485574
Clinical trialPGAM5
Miscellaneous
canSAR (ICR)PGAM5 (select the gene name)
Probes
Litterature
PubMed44 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePGAM5
EVEXPGAM5
GoPubMedPGAM5
iHOPPGAM5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

EBI   NCBI

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indexed on : Mon Sep 18 13:34:23 CEST 2017

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