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PMM2 (phosphomannomutase 2)

Identity

Alias_namesCDG1
Alias_symbol (synonym)CDGS
CDG1a
PMI
PMI1
Other aliasPMM 2
HGNC (Hugo) PMM2
LocusID (NCBI) 5373
Atlas_Id 72017
Location 16p13.2  [Link to chromosome band 16p13]
Location_base_pair Starts at 8797813 and ends at 8849337 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
AD_1 () / PMM2 (16p13.2)PMM2 (16p13.2) / ABAT (16p13.2)PMM2 (16p13.2) / FDPS (1q22)
PMM2 (16p13.2) / UBFD1 (16p12.2)UIMC1 (5q35.2) / PMM2 (16p13.2)

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)PMM2   9115
Cards
Entrez_Gene (NCBI)PMM2  5373  phosphomannomutase 2
AliasesCDG1; CDG1a; CDGS; PMI; 
PMI1; PMM
GeneCards (Weizmann)PMM2
Ensembl hg19 (Hinxton)ENSG00000140650 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000140650 [Gene_View]  chr16:8797813-8849337 [Contig_View]  PMM2 [Vega]
ICGC DataPortalENSG00000140650
TCGA cBioPortalPMM2
AceView (NCBI)PMM2
Genatlas (Paris)PMM2
WikiGenes5373
SOURCE (Princeton)PMM2
Genetics Home Reference (NIH)PMM2
Genomic and cartography
GoldenPath hg38 (UCSC)PMM2  -     chr16:8797813-8849337 +  16p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PMM2  -     16p13.2   [Description]    (hg19-Feb_2009)
EnsemblPMM2 - 16p13.2 [CytoView hg19]  PMM2 - 16p13.2 [CytoView hg38]
Mapping of homologs : NCBIPMM2 [Mapview hg19]  PMM2 [Mapview hg38]
OMIM212065   601785   
Gene and transcription
Genbank (Entrez)AB209659 AK291537 AK296123 AK296630 AK299979
RefSeq transcript (Entrez)NM_000303
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PMM2
Cluster EST : UnigeneHs.625732 [ NCBI ]
CGAP (NCI)Hs.625732
Alternative Splicing GalleryENSG00000140650
Gene ExpressionPMM2 [ NCBI-GEO ]   PMM2 [ EBI - ARRAY_EXPRESS ]   PMM2 [ SEEK ]   PMM2 [ MEM ]
Gene Expression Viewer (FireBrowse)PMM2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5373
GTEX Portal (Tissue expression)PMM2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15305   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15305  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15305
Splice isoforms : SwissVarO15305
PhosPhoSitePlusO15305
Domains : Interpro (EBI)HAD-like_dom    HAD-SF_hydro_IIB    PMM   
Domain families : Pfam (Sanger)PMM (PF03332)   
Domain families : Pfam (NCBI)pfam03332   
Conserved Domain (NCBI)PMM2
DMDM Disease mutations5373
Blocks (Seattle)PMM2
PDB (SRS)2AMY    2Q4R   
PDB (PDBSum)2AMY    2Q4R   
PDB (IMB)2AMY    2Q4R   
PDB (RSDB)2AMY    2Q4R   
Structural Biology KnowledgeBase2AMY    2Q4R   
SCOP (Structural Classification of Proteins)2AMY    2Q4R   
CATH (Classification of proteins structures)2AMY    2Q4R   
SuperfamilyO15305
Human Protein AtlasENSG00000140650
Peptide AtlasO15305
HPRD03472
IPIIPI00006092   IPI01014331   IPI01014747   
Protein Interaction databases
DIP (DOE-UCLA)O15305
IntAct (EBI)O15305
FunCoupENSG00000140650
BioGRIDPMM2
STRING (EMBL)PMM2
ZODIACPMM2
Ontologies - Pathways
QuickGOO15305
Ontology : AmiGOphosphomannomutase activity  phosphomannomutase activity  protein binding  nucleus  cytosol  cytosol  cytosol  mannose metabolic process  protein glycosylation  protein N-linked glycosylation  GDP-mannose biosynthetic process  GDP-mannose biosynthetic process  neuronal cell body  protein targeting to ER  extracellular exosome  
Ontology : EGO-EBIphosphomannomutase activity  phosphomannomutase activity  protein binding  nucleus  cytosol  cytosol  cytosol  mannose metabolic process  protein glycosylation  protein N-linked glycosylation  GDP-mannose biosynthetic process  GDP-mannose biosynthetic process  neuronal cell body  protein targeting to ER  extracellular exosome  
Pathways : KEGGFructose and mannose metabolism    Amino sugar and nucleotide sugar metabolism   
NDEx NetworkPMM2
Atlas of Cancer Signalling NetworkPMM2
Wikipedia pathwaysPMM2
Orthology - Evolution
OrthoDB5373
GeneTree (enSembl)ENSG00000140650
Phylogenetic Trees/Animal Genes : TreeFamPMM2
HOVERGENO15305
HOGENOMO15305
Homologs : HomoloGenePMM2
Homology/Alignments : Family Browser (UCSC)PMM2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPMM2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PMM2
dbVarPMM2
ClinVarPMM2
1000_GenomesPMM2 
Exome Variant ServerPMM2
ExAC (Exome Aggregation Consortium)PMM2 (select the gene name)
Genetic variants : HAPMAP5373
Genomic Variants (DGV)PMM2 [DGVbeta]
DECIPHERPMM2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPMM2 
Mutations
ICGC Data PortalPMM2 
TCGA Data PortalPMM2 
Broad Tumor PortalPMM2
OASIS PortalPMM2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPMM2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPMM2
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)Mendelian genes
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch PMM2
DgiDB (Drug Gene Interaction Database)PMM2
DoCM (Curated mutations)PMM2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PMM2 (select a term)
intoGenPMM2
Cancer3DPMM2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM212065    601785   
Orphanet11344   
MedgenPMM2
Genetic Testing Registry PMM2
NextProtO15305 [Medical]
TSGene5373
GENETestsPMM2
Target ValidationPMM2
Huge Navigator PMM2 [HugePedia]
snp3D : Map Gene to Disease5373
BioCentury BCIQPMM2
ClinGenPMM2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5373
Chemical/Pharm GKB GenePA33441
Clinical trialPMM2
Miscellaneous
canSAR (ICR)PMM2 (select the gene name)
Probes
Litterature
PubMed57 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePMM2
EVEXPMM2
GoPubMedPMM2
iHOPPMM2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:34:50 CEST 2017

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