Property Summary

NCBI Gene PubMed Count 21
Grant Count 6
Funding $795,115.41
PubMed Score 160.16
PubTator Score 88.61

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (14)

Disease log2 FC p
malignant mesothelioma -1.200 0.000
psoriasis -1.200 0.002
tuberculosis and treatment for 3 months -1.200 0.000
primary pancreatic ductal adenocarcinoma -1.504 0.002
non-small cell lung cancer 1.042 0.000
lung cancer -1.600 0.001
active Crohn's disease 1.452 0.001
diabetes mellitus -1.700 0.017
Breast cancer 2.000 0.031
group 3 medulloblastoma 1.100 0.002
pilocytic astrocytoma 1.400 0.000
ulcerative colitis 1.600 0.000
ovarian cancer 2.500 0.000
pancreatic cancer -1.500 0.001

Gene RIF (8)

PMID Text
26482871 Data indicate the effect of the phosphoglucomutase 3 (PGM3) mutation for four immunodeficient siblings in a Swedish family.
24931394 define PGM3-CDG as a treatable immunodeficiency, document the power of whole-exome sequencing in gene discoveries for rare disorders, and illustrate the utility of genomic analyses in studying combined and variable phenotypes
24698316 Impairment of PGM3 function leads to a novel primary (inborn) error of development and immunity because biallelic hypomorphic mutations are associated with impaired glycosylation and a hyper-IgE-like phenotype.
24589341 Autosomal recessive hypomorphic PGM3 mutations underlie a disorder of severe atopy, immune deficiency, autoimmunity, intellectual disability, and hypomyelination.
20800603 Observational study of gene-disease association. (HuGE Navigator)
20221814 Polymorphic analysis of the human phosphoglucomutase-3 gene.
20221814 Observational study of genotype prevalence. (HuGE Navigator)
12174217 PGM(3) is identical to AGM(1).

AA Sequence

MDLGAITKYSALHAKPNGLILQYGTAGFRTKAEHLDHVMFRMGLLAVLRSKQTKSTIGVMVTASHNPEED      1 - 70
NGVKLVDPLGEMLAPSWEEHATCLANAEEQDMQRVLIDISEKEAVNLQQDAFVVIGRDTRPSSEKLSQSV     71 - 140
IDGVTVLGGQFHDYGLLTTPQLHYMVYCRNTGGRYGKATIEGYYQKLSKAFVELTKQASCSGDEYRSLKV    141 - 210
DCANGIGALKLREMEHYFSQGLSVQLFNDGSKGKLNHLCGADFVKSHQKPPQGMEIKSNERCCSFDGDAD    211 - 280
RIVYYYHDADGHFHLIDGDKIATLISSFLKELLVEIGESLNIGVVQTAYANGSSTRYLEEVMKVPVYCTK    281 - 350
TGVKHLHHKAQEFDIGVYFEANGHGTALFSTAVEMKIKQSAEQLEDKKRKAAKMLENIIDLFNQAAGDAI    351 - 420
SDMLVIEAILALKGLTVQQWDALYTDLPNRQLKVQVADRRVISTTDAERQAVTPPGLQEAINDLVKKYKL    421 - 490
SRAFVRPSGTEDVVRVYAEADSQESADHLAHEVSLAVFQLAGGIGERPQPGF                      491 - 542
//

Text Mined References (31)

PMID Year Title
26482871 2015 Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene.
24931394 2014 PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
24698316 2014 Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels.
24589341 2014 Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21269460 2011 Initial characterization of the human central proteome.
21159204 2010 Down-regulation of phosphoglucomutase 3 mediates sulforaphane-induced cell death in LNCaP prostate cancer cells.
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