PMM2 (phosphomannomutase 2)

2014-11-01  

Identity

HGNC
PMM2
LOCATION
16p13.2
LOCUSID
5373
ALIAS
CDG1,CDG1a,CDGS,PMI,PMI1,PMM 2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5373
MIM: 601785
HGNC: 9115
Ensembl: ENSG00000140650

Variants:

dbSNP: 5373
ClinVar: 5373
TCGA: ENSG00000140650
COSMIC: PMM2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140650ENST00000268261O15305
ENSG00000140650ENST00000268261A0A0S2Z4J6
ENSG00000140650ENST00000562318H3BM92
ENSG00000140650ENST00000564069H3BPH4
ENSG00000140650ENST00000565221H3BV34
ENSG00000140650ENST00000565896H3BR08
ENSG00000140650ENST00000566540H3BM92
ENSG00000140650ENST00000566604O15305
ENSG00000140650ENST00000566983H3BV55
ENSG00000140650ENST00000568602H3BNY9
ENSG00000140650ENST00000569958H3BRM0
ENSG00000140650ENST00000570076H3BT06
ENSG00000140650ENST00000570134H3BM92

Expression (GTEx)

0
5
10
15
20
25
30
35
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
Fructose and mannose metabolismKEGGko00051
Amino sugar and nucleotide sugar metabolismKEGGko00520
Fructose and mannose metabolismKEGGhsa00051
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 GDP-mannoseREACTOMER-HSA-446205

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
384305172024Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models.1
384305172024Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models.1
367436912023Cysteine Pathogenic Variants of PMM2 Are Sensitive to Environmental Stress with Loss of Structural Stability.0
367730652023Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia.1
381294262023Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study.0
367436912023Cysteine Pathogenic Variants of PMM2 Are Sensitive to Environmental Stress with Loss of Structural Stability.0
367730652023Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia.1
381294262023Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study.0
357895142022A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones.1
357895142022A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones.1
335808242021Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes.5
336196522021Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).5
338114802021Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD).2
348282632021Genotype-Phenotype Correlations in PMM2-CDG.7
335808242021Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes.5

Citation

Dessen P

PMM2 (phosphomannomutase 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72017