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Tchem
PMM2
Phosphomannomutase 2

Protein Summary
Description
Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000268261
  • ENSP00000268261
  • ENSG00000140650
  • ENST00000566604
  • ENSP00000456774

Symbol
  • PMI
  • CDG1
  • CDGS
  • PMI1
  • CDG1a
  • PMM 2
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
histone modification site profile
0.91
kinase perturbation
0.76
transcription factor binding site profile
0.76
tissue
0.64
gene perturbation
0.6


Related Tools
Target Illumination GWAS Analytics (TIGA)
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TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
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GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 85.97   (req: < 5)
Gene RIFs: 29   (req: <= 3)
Antibodies: 200   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 85.97   (req: >= 5)
Gene RIFs: 29   (req: > 3)
Antibodies: 200   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 1
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Active Ligands (1)
1 – 1 of 1
Ebselen
Rendered image for Ebselen
GWAS Traits (8)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mean platelet volume
2
2
2
88.5
platelet count
2
2
2
81.6
platelet crit
1
1
1
50.6
lymphocyte count
2
1
2
50.6
testosterone measurement
1
1
1
42.3
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mean platelet volume
2
88.5
platelet count
2
81.6
platelet crit
1
50.6
lymphocyte count
2
50.6
testosterone measurement
1
42.3
Orthologs (16)
1 – 5 of 16
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
phosphomannomutase 2
VGNC:5887
453905
Macaque
phosphomannomutase 2
709122
Mouse
MGI:1859214
54128
Rat
RGD:1309366
302915
Dog
phosphomannomutase 2
VGNC:44734
490013
Species
Name
OMA
EggNOG
Inparanoid
Chimp
phosphomannomutase 2
Macaque
phosphomannomutase 2
Mouse
Rat
Dog
phosphomannomutase 2
Protein Structure (2 Structures, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-O15305-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 2 of 2
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (21)
Asparagine N-linked glycosylation (R-HSA-446203)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 10
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Asparagine N-linked glycosylation
Reactome
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
Reactome
Defective PMM2 causes PMM2-CDG (CDG-1a)
Reactome
Disease
Reactome
Diseases associated with glycosylation precursor biosynthesis
Name
Explore in Pharos
Explore in Source
Asparagine N-linked glycosylation
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
Defective PMM2 causes PMM2-CDG (CDG-1a)
Disease
Diseases associated with glycosylation precursor biosynthesis
Gene Ontology Terms (9)
Items per page:
10
1 – 1 of 1
GO Term
Evidence
Assigned by
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Protein-Protein Interactions (89)
1 – 10 of 89
PMM1
Tbio
Family:  Enzyme
Novelty:  0.03310193
p_int:  1
Score:  0.902
Data Source:  BioPlex,STRINGDB
MPI
Tchem
Family:  Enzyme
Novelty:  0.0091718
Score:  0.987
Data Source:  STRINGDB
GMPPB
Tbio
Family:  Enzyme
Novelty:  0.05106206
Score:  0.969
Data Source:  STRINGDB
GMPPA
Tbio
Family:  Enzyme
Novelty:  0.14050797
Score:  0.937
Data Source:  STRINGDB
HK1
Tchem
Family:  Kinase
Novelty:  0.00195554
Score:  0.925
Data Source:  STRINGDB
HK3
Tbio
Family:  Kinase
Novelty:  0.0151241
Score:  0.915
Data Source:  STRINGDB
HKDC1
Tbio
Family:  Kinase
Novelty:  0.016969
Score:  0.911
Data Source:  STRINGDB
HK2
Tchem
Family:  Kinase
Novelty:  0.00144136
Score:  0.911
Data Source:  STRINGDB
ALG2
Tbio
Family:  Enzyme
Novelty:  0.03804805
Score:  0.85
Data Source:  STRINGDB
DPAGT1
Tbio
Family:  Enzyme
Novelty:  0.00869839
Score:  0.836
Data Source:  STRINGDB
Publication Statistics
PubMed Score  85.97

PubMed score by year
PubTator Score  158.18

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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