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Pmm2
Gene Detail
Symbol

Name
ID
Pmm2
phosphomannomutase 2
MGI:1859214
Feature Type
protein coding gene
Genetic Map
Chromosome 16
4.24 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr16:8637674-8657531 bp, + strand
From VEGA annotation of GRCm38

  19858 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:257  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: SEC53 protein
Gene Tree: Pmm2

Human
homologs
Human Homolog PMM2, phosphomannomutase 2
NCBI Gene ID 5373
neXtProt AC  NX_O15305
Human Synonyms  CDG1, CDG1a, CDGS, PMI, PMI1, PMM 2
Human Chr (Location)  16p13; chr16:8797813-8849337 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human PMM2
Mutations,
alleles, and
phenotypes
All mutations/alleles(12) : Gene trapped(3) Targeted(9)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a knock-out allele exhibit early embryonic lethality around E2.5. Transmission of the maternal null allele is severely impaired.
 
Interactions
Pmm2 interacts with 127 markers (Mir15a, Mir17, Mir18b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (9 annotations)
Process mannose biosynthetic process, metabolic process
Component cytoplasm, extracellular vesicular exosome, ...
Function catalytic activity, isomerase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (136)    Tissues (134)    Images (2)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 32
RNA in situ 102
Western blot 2
cDNA source data(99)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(103) Genomic(1) cDNA(101) Other(1)
Microarray probesets(6)
Other database
links
VEGA Gene ModelOTTMUSG00000025198 (Evidence)
Ensembl Gene ModelENSMUSG00000022711 (Evidence)
Entrez Gene54128 (Evidence)
UniGene9699
DFCITC1576400, TC1591622, TC1596126, TC1632110, TC1728107
DoTSDT.94335352, DT.531982, DT.55150457, DT.102541801, DT.101328609, DT.101739687, DT.94335365, DT.94335358, DT.97401610
NIA Mouse Gene IndexU330385, U156653
EC5.4.2.8
Consensus CDS ProjectCCDS27941.1
International Mouse Knockout Project StatusPmm2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000025198 VEGA Gene Model | MGI Sequence Detail 19858 C57BL/6J ±  kb
transcript OTTMUST00000062041 VEGA | MGI Sequence Detail 1842 Not Applicable 
polypeptide OTTMUSP00000030534 VEGA | MGI Sequence Detail 242 Not Applicable 

For the selected sequences
All sequences(62) RefSeq(4) UniProt(9)
Polymorphisms
SNPs within 2kb(106 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR005002 Eukaryotic phosphomannomutase
InterPro IPR023214 HAD-like domain
InterPro IPR006379 HAD-superfamily hydrolase, subfamily IIB
Protein Ontology PR:000012908 phosphomannomutase 2
References
(Earliest) J:10119 Siu G, et al., Isolation of the murine intercellular adhesion molecule 1 (ICAM-1) gene. ICAM-1 enhances antigen-specific T cell activation. J Immunol. 1989 Dec 1;143(11):3813-20
(Latest) J:191565 Grote P, et al., The Tissue-Specific lncRNA Fendrr Is an Essential Regulator of Heart and Body Wall Development in the Mouse. Dev Cell. 2013 Jan 28;24(2):206-14
All references(44)
Other
accession IDs
MGI:2146459, MGI:2146724

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
12/16/2014
MGI 5.20
The Jackson Laboratory