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 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; chr16:8891670-8943194 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human PMM2

Alleles and phenotypes

All alleles(11) : Targeted(8) Gene trapped(3)
 

Mice homozygous for a knock-out allele exhibit early embryonic lethality around E2.5. Transmission of the maternal null allele is severely impaired.

 

Gene Ontology (GO) classifications

All GO classifications: (8 annotations)

Process	mannose biosynthetic process, metabolic process
Component	cytoplasm, neuronal cell body
Function	catalytic activity, isomerase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (4 records)
Data Summary: Results (136)    Tissues (132)    Images (2)
Theiler Stages: 21, 22, 23, 25, 28

Assay Type	Results
Immunohistochemistry	32
RNA in situ	102
Western blot	2

cDNA source data(100)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(104) Genomic(1) cDNA(102) Other(1)
Microarray probesets(6)

Other database links

VEGA Gene Model	OTTMUSG00000025198 (Evidence)
Ensembl Gene Model	ENSMUSG00000022711 (Evidence)
Entrez Gene	54128 (Evidence)
UniGene	9699
DFCI	TC1576400, TC1591622, TC1596126, TC1632110, TC1728107
DoTS	DT.101328609, DT.101739687, DT.102541801, DT.531982, DT.55150457, DT.94335352, DT.94335358, DT.94335365, DT.97401610
NIA Mouse Gene Index	U156653, U330385
EC	5.4.2.8
Consensus CDS Project	CCDS27941.1
International Mouse Knockout Project Status	Pmm2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000025198	VEGA Gene Model | MGI Sequence Detail	19858	C57BL/6J
transcript	OTTMUST00000062041	VEGA | MGI Sequence Detail	1842	Not Applicable
polypeptide	OTTMUSP00000030534	VEGA | MGI Sequence Detail	242	Not Applicable

All sequences(56) RefSeq(2) UniProt(5)

Polymorphisms

SNPs(84 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:180794 Schneider A, et al., Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice. Nat Med. 2012 Jan;18(1):71-3
All references(41)

Other accession IDs

MGI:2146459, MGI:2146724