Homo sapiens Gene: PMM2
Summary
InnateDB Gene IDBG-13918.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PMM2
Gene Name phosphomannomutase 2
Synonyms CDG1; CDG1a; CDGS; PMI; PMI1; PMM 2;
Species Homo sapiens
Ensembl Gene ENSG00000140650
Encoded Proteins
phosphomannomutase 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:8788823-8849331
Strand Forward strand
Band p13.2
Transcripts
ENST00000268261 ENSP00000268261
ENST00000565221 ENSP00000457932
ENST00000570134 ENSP00000456275
ENST00000565837
ENST00000564030
ENST00000564069 ENSP00000455320
ENST00000567697
ENST00000562448
ENST00000570076 ENSP00000456961
ENST00000568602 ENSP00000455066
ENST00000566983 ENSP00000457956
ENST00000565896 ENSP00000456024
ENST00000562025
ENST00000566540 ENSP00000454284
ENST00000566196
ENST00000566604 ENSP00000456774
ENST00000569958 ENSP00000456302
ENST00000562318 ENSP00000454395
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 3 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0004615 phosphomannomutase activity
Biological Process
GO:0006486 protein glycosylation
GO:0006488 dolichol-linked oligosaccharide biosynthetic process
GO:0008152 metabolic process
GO:0009298 GDP-mannose biosynthetic process
GO:0018279 protein N-linked glycosylation via asparagine
GO:0019307 mannose biosynthetic process
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
Cellular Component
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0043025 neuronal cell body
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Post-translational protein modification pathway
Synthesis of substrates in N-glycan biosythesis pathway
Asparagine N-linked glycosylation pathway
Synthesis of GDP-mannose pathway
Metabolism of proteins pathway
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein pathway
KEGG
Fructose and mannose metabolism pathway
Amino sugar and nucleotide sugar metabolism pathway
INOH
Fructose Mannose metabolism pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.614574 Hs.625732 Hs.731165
RefSeq NM_000303
HUGO
OMIM
CCDS CCDS10536
HPRD 03472
IMGT
EMBL
GenPept
RNA Seq Atlas