InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-13920

phosphomannomutase 2

IDBP-746490

IDBP-750922

IDBP-747989

IDBP-753129

IDBP-751058

IDBP-748931

IDBP-751570

IDBP-752554

IDBP-748405

IDBP-754719

IDBP-752834

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

ENSMUSG00000022711

View Gene Order

ENSBTAG00000001440

Not yet available

Pathways

NETPATH

REACTOME

REACT_22423

Synthesis of GDP-mannose pathway

REACT_22433

Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein pathway

REACT_22426

Asparagine N-linked glycosylation pathway

REACT_22161

Post-translational protein modification pathway

REACT_22387

Synthesis of substrates in N-glycan biosythesis pathway

REACT_17015

Metabolism of proteins pathway

KEGG

hsa00520

Amino sugar and nucleotide sugar metabolism pathway

hsa00051

Fructose and mannose metabolism pathway

INOH

INOH website

Fructose Mannose metabolism pathway

PID NCI

Cross-References

SwissProt

TrEMBL

H3BM92

UniProt Splice Variant

Entrez Gene

5373

UniGene

Hs.614574 Hs.625732 Hs.731165

RefSeq

NM_000303

HUGO

HGNC:9115

OMIM

601785

CCDS

CCDS10536

HPRD

03472

IMGT

EMBL

AC012173

GenPept

RNA Seq Atlas

102725528 5373