Property Summary

NCBI Gene PubMed Count 50
Grant Count 58
R01 Count 38
Funding $6,240,395.76
PubMed Score 118.38
PubTator Score 152.07

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession O15305 A8K672 B7Z6R0 D3DUF3 PMM 2
Symbols PMI
CDG1
CDGS
PMI1
CDG1a
PMM 2

Gene

PANTHER Protein Class (2)

PDB

2AMY   2Q4R  

MLP Assay (1)

AID Type Active / Inconclusive / Inactive Description
1655 confirmatory 51 / 0 / 127 Counter screen SAR assay for PMM2 inhibitors via a fluorescence intensity assay

Gene RIF (24)

PMID Text
26488408 the activity of phosphomannomutase2 R141H/F119L heterodimers in vitro, which reproduces the protein found in patients, has the same activity of wild type/R141H, which reproduces the protein found in healthy carriers.
26014514 work describes the functional analysis of 9 PMM2 mutant proteins frequently found in congenital disorder of glycosylation type Ia(PMM2-CDG)patients; results suggest that some loss-of-function mutations detected in PMM2-CDG patients could be destabilizing
25613138 The gene expression of phosphomannomutase 2 is significantly upregulated in both clade B and clade C Tat treated SK-N-MC neuroblastoma cells
25355454 A mild neurological phenotype of PMM2-CDG marked by preserved ambulatory ability and autonomy and associated with L32R mutation is particularly frequent in Italy.
25324542 conformational response to ligand binding in phosphomannomutase2
25173107 Data indicate genome-wide significant association at multiple single nucleotide polymorphism (SNPs) near ATP binding cassette transporter 1 (ABCA1) at 9q31.1 and suggestive evidence of association in phosphomannomutase 2 (PMM2) at 16p13.2.
23988505 Two young sisters are compound heterozygous for mutations p.Leu32Arg and p.Arg141His, while two paternal great-aunts are compound heterozygosity for p.Leu32Arg and p.Thr237Met, with congenital disorder of glycosylation.
23430200 We conclude that electroretinogram signs of on-pathway dysfunction can be detected in the early stages of PMM2-Congenital disorder of glycosylation.
22944692 The gene expression of phosphomannomutase 2 is significantly upregulated in both clade B and clade C Tat treated SK-N-MC neuroblastoma cells
22374380 Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia with PMM2 mutations in two siblings.
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AA Sequence

MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVVGGSDFEKVQEQLGNDVVEKYDYVFPE      1 - 70
NGLVAYKDGKLLCRQNIQSHLGEALIQDLINYCLSYIAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEE     71 - 140
RIEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFFGDK    141 - 210
TMPGGNDHEIFTDPRTMGYSVTAPEDTRRICELLFS                                      211 - 246
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Text Mined References (56)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26488408 2015 Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2.
26014514 2015 The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.
25416956 2014 A proteome-scale map of the human interactome network.
25355454 2015 A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.
25324542 2014 Conformational response to ligand binding in phosphomannomutase2: insights into inborn glycosylation disorder.
25173107 2014 Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23988505 2013 PMM2-CDG: phenotype and genotype in four affected family members.
23430200 2013 Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG.
More...