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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 **all 4** entries
GO Term	Evidence Code	PMID
protein N-linked glycosylation	IBA
mannose metabolic process	IBA
protein glycosylation	TAS	9140401
GDP-mannose biosynthetic process	IEA TAS

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

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

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

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

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

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 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

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 **all 3** entries
GO Term	Evidence Code	PMID
cytosol	IBA IDA TAS
neuronal cell body	IEA
nucleoplasm	IDA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cell body [inference]

neuronal cell body

Displaying **all 3** entries
GO Term	Evidence Code	PMID
metal ion binding	IEA
protein binding	IPI	25416956 26871637 32296183
phosphomannomutase activity	IBA TAS

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.

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

α-D-mannose 1-phosphate

D-mannose 6-phosphate

Enzyme

5.4.2.8

PMID

Disease

Disease Ontology

Displaying entries **1 - 10** of **255** in total

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DO ID	Disease Name	Source
DOID:0014667	disease of metabolism	DisGeNET
DOID:0050152	aspiration pneumonia	DisGeNET
DOID:0050328	congenital hypothyroidism	DisGeNET
DOID:0050429	Hailey-Hailey disease	DisGeNET
DOID:0050557	congenital muscular dystrophy	DisGeNET
DOID:0050562	West syndrome	DisGeNET
DOID:0050570	congenital disorder of glycosylation type I	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050572	cone-rod dystrophy	DisGeNET
DOID:0050700	cardiomyopathy	DisGeNET DisGeNET
DOID:0050753	cerebellar ataxia	DisGeNET

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
ORPHA:79318	PMM2-congenital disorder of glycosylation
OMIM:212065	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 82 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	178364	WB:WBGene00009925
Drosophila melanogaster	39436	FB:FBgn0036300
Callorhinchus milii	103178826		CALMI16434
Latimeria chalumnae	102354737		LATCH04019
Danio rerio	368229	ZFIN:ZDB-GENE-030722-6	DANRE17333
Ictalurus punctatus	100528607		ICTPU20721
Electrophorus electricus	113574958		ELEEL16399
Esox lucius	105007599		ESOLU71428
Gadus morhua	115540705		GADMO43359
Oryzias latipes	101157104		ORYLA19025

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Last updated: August 19, 2024