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PMM2 (phosphomannomutase 2)

Identity

Alias (NCBI)CDG1
CDG1a
CDGS
PMI
PMI1
PMM 2
HGNC (Hugo) PMM2
HGNC Alias symbCDGS
CDG1a
PMI
PMI1
HGNC Alias namephosphomannose isomerase 1
 mannose-6-phosphate isomerase
HGNC Previous nameCDG1
LocusID (NCBI) 5373
Atlas_Id 72017
Location 16p13.2  [Link to chromosome band 16p13]
Location_base_pair Starts at 8797839 and ends at 8849325 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    phosphomannomutase 2
AliasesCDG1; CDG1a; CDGS; PMI; 
PMI1; PMM
GeneCards (Weizmann)PMM2
Ensembl hg19 (Hinxton)ENSG00000140650 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000140650 [Gene_View]  ENSG00000140650 [Sequence]  chr16:8797839-8849325 [Contig_View]  PMM2 [Vega]
ICGC DataPortalENSG00000140650
TCGA cBioPortalPMM2
AceView (NCBI)PMM2
Genatlas (Paris)PMM2
SOURCE (Princeton)PMM2
Genetics Home Reference (NIH)PMM2
Genomic and cartography
GoldenPath hg38 (UCSC)PMM2  -     chr16:8797839-8849325 +  16p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PMM2  -     16p13.2   [Description]    (hg19-Feb_2009)
GoldenPathPMM2 - 16p13.2 [CytoView hg19]  PMM2 - 16p13.2 [CytoView hg38]
ImmunoBaseENSG00000140650
Genome Data Viewer NCBIPMM2 [Mapview hg19]  
OMIM212065   601785   
Gene and transcription
Genbank (Entrez)AB209659 AK291537 AK296123 AK296630 AK299979
RefSeq transcript (Entrez)NM_000303
Consensus coding sequences : CCDS (NCBI)PMM2
Gene ExpressionPMM2 [ NCBI-GEO ]   PMM2 [ EBI - ARRAY_EXPRESS ]   PMM2 [ SEEK ]   PMM2 [ MEM ]
Gene Expression Viewer (FireBrowse)PMM2 [ Firebrowse - Broad ]
GenevisibleExpression of PMM2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5373
GTEX Portal (Tissue expression)PMM2
Human Protein AtlasENSG00000140650-PMM2 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusO15305
Domains : Interpro (EBI)HAD-like_sf    HAD-SF_hydro_IIB    HAD_sf    PMM    PMM_cap   
Domain families : Pfam (Sanger)PMM (PF03332)   
Domain families : Pfam (NCBI)pfam03332   
Conserved Domain (NCBI)PMM2
PDB (RSDB)2AMY    2Q4R   
PDB Europe2AMY    2Q4R   
PDB (PDBSum)2AMY    2Q4R   
PDB (IMB)2AMY    2Q4R   
Structural Biology KnowledgeBase2AMY    2Q4R   
SCOP (Structural Classification of Proteins)2AMY    2Q4R   
CATH (Classification of proteins structures)2AMY    2Q4R   
SuperfamilyO15305
AlphaFold pdb e-kbO15305   
Human Protein Atlas [tissue]ENSG00000140650-PMM2 [tissue]
HPRD03472
Protein Interaction databases
DIP (DOE-UCLA)O15305
IntAct (EBI)O15305
BioGRIDPMM2
STRING (EMBL)PMM2
ZODIACPMM2
Ontologies - Pathways
QuickGOO15305
Ontology : AmiGOphosphomannomutase activity  protein binding  nucleoplasm  cytosol  cytosol  cytosol  mannose metabolic process  protein glycosylation  protein N-linked glycosylation  GDP-mannose biosynthetic process  GDP-mannose biosynthetic process  neuronal cell body  metal ion binding  
Ontology : EGO-EBIphosphomannomutase activity  protein binding  nucleoplasm  cytosol  cytosol  cytosol  mannose metabolic process  protein glycosylation  protein N-linked glycosylation  GDP-mannose biosynthetic process  GDP-mannose biosynthetic process  neuronal cell body  metal ion binding  
Pathways : KEGGFructose and mannose metabolism   
NDEx NetworkPMM2
Atlas of Cancer Signalling NetworkPMM2
Wikipedia pathwaysPMM2
Orthology - Evolution
OrthoDB5373
GeneTree (enSembl)ENSG00000140650
Phylogenetic Trees/Animal Genes : TreeFamPMM2
Homologs : HomoloGenePMM2
Homology/Alignments : Family Browser (UCSC)PMM2
Gene fusions - Rearrangements
Fusion : QuiverPMM2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPMM2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PMM2
dbVarPMM2
ClinVarPMM2
MonarchPMM2
1000_GenomesPMM2 
Exome Variant ServerPMM2
GNOMAD BrowserENSG00000140650
Varsome BrowserPMM2
ACMGPMM2 variants
VarityO15305
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]  
Somatic Mutations in Cancer : COSMIC3DPMM2
Mutations and Diseases : HGMDPMM2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPMM2
DgiDB (Drug Gene Interaction Database)PMM2
DoCM (Curated mutations)PMM2
CIViC (Clinical Interpretations of Variants in Cancer)PMM2
Cancer3DPMM2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM212065    601785   
Orphanet11344   
DisGeNETPMM2
MedgenPMM2
Genetic Testing Registry PMM2
NextProtO15305 [Medical]
GENETestsPMM2
Target ValidationPMM2
Huge Navigator PMM2 [HugePedia]
ClinGenPMM2
Clinical trials, drugs, therapy
MyCancerGenomePMM2
Protein Interactions : CTDPMM2
Pharm GKB GenePA33441
PharosO15305
Clinical trialPMM2
Miscellaneous
canSAR (ICR)PMM2
HarmonizomePMM2
DataMed IndexPMM2
Probes
Litterature
PubMed81 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPMM2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 16:16:36 CEST 2021

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