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phosphomannomutase 2

Summary

Gene Symbol

PMM2

Aliases

CDG1a
CDGS
Congenital disorder of glycosylation, type Ia
PMI
PMI1
mannose-6-phosphate isomerase
phosphomannose isomerase 1

Organism

Homo sapiens (human)

External Links

NCBI Gene

5373

HGNC

9115

KEGG Gene ID

hsa:5373

PubChem

5373

Alliance of Genome Resources

HGNC:9115

Annotation

Keyword

3D-structure
Acetylation
Alternative splicing
Congenital disorder of glycosylation
Cytoplasm
Disease variant
Isomerase
Magnesium
Metal-binding
Reference proteome

Proteins

Displaying **all 3** entries
UniProt	Protein Name
O15305
A0A0S2Z4J6
Q59F02

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
mannose metabolic process	IBA
protein glycosylation	TAS	9140401
protein N-linked glycosylation	IBA
GDP-mannose biosynthetic process	TAS
mannose catabolic process

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

GDP-mannose metabolic process [inference]

GDP-mannose biosynthetic process

cellular nitrogen compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation

protein N-linked glycosylation

catabolic process [inference]

small molecule catabolic process [inference]

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

mannose catabolic process

organic substance catabolic process [inference]

carbohydrate catabolic process [inference]

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

mannose catabolic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

heterocycle biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

aromatic compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

cellular nitrogen compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

organic substance biosynthetic process [inference]

carbohydrate derivative biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

organic cyclic compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

cellular metabolic process [inference]

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

GDP-mannose metabolic process [inference]

GDP-mannose biosynthetic process

aromatic compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

GDP-mannose biosynthetic process from fructose-6-phosphate

organophosphate metabolic process [inference]

GDP-mannose biosynthetic process from fructose-6-phosphate

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

GDP-mannose metabolic process [inference]

GDP-mannose biosynthetic process

cellular nitrogen compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

cellular biosynthetic process [inference]

heterocycle biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

aromatic compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

cellular nitrogen compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

GDP-mannose metabolic process [inference]

GDP-mannose biosynthetic process

heterocycle biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

primary metabolic process [inference]

carbohydrate metabolic process [inference]

monosaccharide metabolic process [inference]

hexose metabolic process [inference]

mannose metabolic process

hexose catabolic process [inference]

mannose catabolic process

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

mannose catabolic process

carbohydrate catabolic process [inference]

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

mannose catabolic process

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

GDP-mannose metabolic process [inference]

GDP-mannose biosynthetic process

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation

protein N-linked glycosylation

small molecule metabolic process [inference]

monosaccharide metabolic process [inference]

hexose metabolic process [inference]

mannose metabolic process

hexose catabolic process [inference]

mannose catabolic process

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

mannose catabolic process

small molecule catabolic process [inference]

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

mannose catabolic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

GDP-mannose metabolic process [inference]

GDP-mannose biosynthetic process

glycosylation [inference]

macromolecule glycosylation [inference]

protein glycosylation

protein N-linked glycosylation

organic substance metabolic process [inference]

carbohydrate metabolic process [inference]

monosaccharide metabolic process [inference]

hexose metabolic process [inference]

mannose metabolic process

hexose catabolic process [inference]

mannose catabolic process

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

mannose catabolic process

carbohydrate catabolic process [inference]

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

mannose catabolic process

organophosphate metabolic process [inference]

GDP-mannose biosynthetic process from fructose-6-phosphate

macromolecule metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation

protein N-linked glycosylation

macromolecule modification [inference]

protein modification process [inference]

protein glycosylation

protein N-linked glycosylation

macromolecule glycosylation [inference]

protein glycosylation

protein N-linked glycosylation

carbohydrate derivative metabolic process [inference]

nucleotide-sugar metabolic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

GDP-mannose metabolic process [inference]

GDP-mannose biosynthetic process

carbohydrate derivative biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

organic cyclic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

GDP-mannose metabolic process [inference]

GDP-mannose biosynthetic process

organic cyclic compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation

protein N-linked glycosylation

organic substance catabolic process [inference]

carbohydrate catabolic process [inference]

monosaccharide catabolic process [inference]

hexose catabolic process [inference]

mannose catabolic process

organic substance biosynthetic process [inference]

carbohydrate derivative biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

organic cyclic compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

GDP-mannose metabolic process [inference]

GDP-mannose biosynthetic process

aromatic compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

GDP-mannose biosynthetic process from fructose-6-phosphate

organophosphate metabolic process [inference]

GDP-mannose biosynthetic process from fructose-6-phosphate

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

GDP-mannose metabolic process [inference]

GDP-mannose biosynthetic process

cellular nitrogen compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

cellular biosynthetic process [inference]

heterocycle biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

aromatic compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

cellular nitrogen compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

GDP-mannose metabolic process [inference]

GDP-mannose biosynthetic process

heterocycle biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

GDP-mannose biosynthetic process

Displaying entries **6 - 7** of 7 in total

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GO Term	Evidence Code	PMID
microtubule cytoskeleton	IDA
neuronal cell body	IEA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cell projection [inference]

plasma membrane bounded cell projection [inference]

cilium

organelle [inference]

membrane-bounded organelle [inference]

cilium

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

cytoskeleton [inference]

microtubule cytoskeleton

intracellular organelle [inference]

intracellular non-membrane-bounded organelle [inference]

cytoskeleton [inference]

microtubule cytoskeleton

cell body [inference]

neuronal cell body

Displaying **all 5** entries
GO Term	Evidence Code	PMID
phosphomannomutase activity	EXP	16540464
phosphomannomutase activity	TAS
phosphomannomutase activity	IBA
protein binding	IPI	25416956 26871637 32296183
metal ion binding	IEA

GO Hierarchy

molecular function

catalytic activity [inference]

isomerase activity [inference]

intramolecular transferase activity [inference]

intramolecular phosphotransferase activity [inference]

phosphomannomutase activity

binding [inference]

protein binding

ion binding [inference]

cation binding [inference]

metal ion binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

phosphomannomutase, PHOSPHOMANNOMUTASE

Functional Category

E: Amino acid transport and metabolism
G: Carbohydrate transport and metabolism
T: Signal transduction mechanisms

Displaying **all 5** entries
Gene Ontology
GDP-mannose biosynthetic process
isomerase activity
mannose metabolic process
metal ion binding
protein N-linked glycosylation

Displaying **all 5** entries
InterPro
HAD superfamily
HAD-like superfamily
HAD-superfamily hydrolase, subfamily IIB
Phosphomannomutase, cap domain
Phosphomannomutase

Human Protein Atlas

ENSG00000140650

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K17497

Name

phosphomannomutase [EC:5.4.2.8]

References

16540464

Rhea

RHEA:11140

α-D-mannose 1-phosphate

D-mannose 6-phosphate

Enzyme

5.4.2.8

PMID

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0080552	congenital disorder of glycosylation Ia	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:5212	congenital disorder of glycosylation	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of **131** in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000044	Hypogonadotropic hypogonadism
HP:0000091	Abnormal renal tubule morphology
HP:0000093	Proteinuria
HP:0000100	Nephrotic syndrome
HP:0000107	Renal cyst
HP:0000114	Proximal tubulopathy
HP:0000154	Wide mouth
HP:0000218	High palate
HP:0000219	Thin upper lip vermilion

Displaying **all 2** entries
Disease ID	Disease Name
OMIM:212065	PMM2-congenital disorder of glycosylation
ORPHA:79318	PMM2-congenital disorder of glycosylation

PubChem Disease

GHR Health Conditions

PMM2-congenital disorder of glycosylation

MedGen Diseases

PMM2-congenital disorder of glycosylation

OMIM Phenotypes

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A

KEGG Diseases

Congenital disorders of glycosylation type I

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying entries **1 - 10** of 83 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Saccharomyces cerevisiae S288C	5372	SGD:S000001849
Xenopus tropicalis	5373	Xenbase:XB-GENE-974466
Saccharomyces cerevisiae S288C	29858	SGD:S000001849
Xenopus tropicalis	39436	Xenbase:XB-GENE-974466
Mus musculus	54128	Xenbase:XB-GENE-974466	MOUSE19045
Xenopus tropicalis	178364	Xenbase:XB-GENE-974466
Rattus norvegicus	302915		RATNO01402
Danio rerio	368229		DANRE17333
Pan troglodytes	453905		PANTR11708
Canis lupus familiaris	490013		CANLF16586

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

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Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements