PGM3 (phosphoglucomutase 3)

2010-10-01  

Identity

HGNC
PGM3
LOCATION
6q14.1
LOCUSID
5238
ALIAS
AGM1,IMD23,PAGM,PGM
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5238
MIM: 172100
HGNC: 8907
Ensembl: ENSG00000013375

Variants:

dbSNP: 5238
ClinVar: 5238
TCGA: ENSG00000013375
COSMIC: PGM3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000013375ENST00000283977J3KN95
ENSG00000013375ENST00000503094D6RC77
ENSG00000013375ENST00000504780H0Y8I3
ENSG00000013375ENST00000505470D6RCD1
ENSG00000013375ENST00000506587O95394
ENSG00000013375ENST00000507554D6RCQ8
ENSG00000013375ENST00000508748D6RF77
ENSG00000013375ENST00000509219H0Y987
ENSG00000013375ENST00000510258D6RIS6
ENSG00000013375ENST00000512866O95394
ENSG00000013375ENST00000513973O95394
ENSG00000013375ENST00000605602S4R390
ENSG00000013375ENST00000616566A0A087WT27
ENSG00000013375ENST00000650640A0A494C099
ENSG00000013375ENST00000650642A0A494C0G1
ENSG00000013375ENST00000651204A0A494C163
ENSG00000013375ENST00000651425A0A494C1E2
ENSG00000013375ENST00000651698A0A494C076
ENSG00000013375ENST00000652222A0A494C1Q4
ENSG00000013375ENST00000652468H0Y987

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Amino sugar and nucleotide sugar metabolismKEGGko00520
Amino sugar and nucleotide sugar metabolismKEGGhsa00520
Metabolic pathwaysKEGGhsa01100
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent proteinREACTOMER-HSA-446193
Synthesis of substrates in N-glycan biosythesisREACTOMER-HSA-446219
Synthesis of UDP-N-acetyl-glucosamineREACTOMER-HSA-446210

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
367687282023Multi-Omics Profiling in PGM3 and STAT3 Deficiencies: A Tale of Two Patients.1
367687282023Multi-Omics Profiling in PGM3 and STAT3 Deficiencies: A Tale of Two Patients.1
350117382022Targeting PGM3 as a Novel Therapeutic Strategy in KRAS/LKB1 Co-Mutant Lung Cancer.7
357230492022PGM3 regulates beta-catenin activity to promote colorectal cancer cell progression.4
350117382022Targeting PGM3 as a Novel Therapeutic Strategy in KRAS/LKB1 Co-Mutant Lung Cancer.7
357230492022PGM3 regulates beta-catenin activity to promote colorectal cancer cell progression.4
317075132020Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions.1
317075132020Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions.1
305788752019Defective glycosylation leads to defective gp130-dependent STAT3 signaling in PGM3-deficient patients.8
312311322019Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation.2
305788752019Defective glycosylation leads to defective gp130-dependent STAT3 signaling in PGM3-deficient patients.8
312311322019Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation.2
285439172017A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.12
287047072017A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients.11
285439172017A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.12

Citation

Dessen P

PGM3 (phosphoglucomutase 3)

Atlas Genet Cytogenet Oncol Haematol. 2010-10-01

Online version: http://atlasgeneticsoncology.org/gene/51744/pgm3-(phosphoglucomutase-3)