Gene table of PMM2 : phosphomannomutase 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with PMM2OMIM linkNumber of associated genesgenes
PS212065CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE IClinVar, OMIM, HUMSAVAR link to OMIM 25ALG2, ALG1, ALG13, ALG3, CAD, STT3A, SRD5A3, ALG12, ALG8, DPAGT1, DDOST, ALG6, MPI, PMM2, STT3B, DOLK, MPDU1, RFT1, PGM1, ALG9, DPM1, DPM3, ALG11, DPM2, SSR4

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Annotation of the gene PMM2

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Metabolic pathwayshsa011002.49
Fructose and mannose metabolismhsa000517.72
Amino sugar and nucleotide sugar metabolismhsa005207.15
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Synthesis of substrates in N-glycan biosythesisR-HSA-4462197.28
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent proteinR-HSA-4461936.92
Diseases associated with glycosylation precursor biosynthesisR-HSA-56099759.08
Synthesis of GDP-mannoseR-HSA-44620510.66
Metabolism of proteinsR-HSA-3924993.41
Asparagine N-linked glycosylationR-HSA-4462036.1
Defective PMM2 causes PMM2-CDG (CDG-1a)R-HSA-404391112.98
Diseases of glycosylationR-HSA-37818656.89
Post-translational protein modificationR-HSA-5975924.54
DiseaseR-HSA-16436853.33
Associated GO terms for Molecular function
GO termGO IDGO IC
isomerase activityGO:00168534.62
catalytic activityGO:00038241.05
phosphomannomutase activityGO:00046159.05
bindingGO:00054880.18
protein bindingGO:00055150.46
intramolecular transferase activity, phosphotransferasesGO:00168687.34
intramolecular transferase activityGO:00168666.44