PGM2 (phosphoglucomutase 2)

2014-11-01  

Identity

HGNC
PGM2
LOCATION
4p14
LOCUSID
55276
ALIAS
MSTP006
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55276
MIM: 172000
HGNC: 8906
Ensembl: ENSG00000169299

Variants:

dbSNP: 55276
ClinVar: 55276
TCGA: ENSG00000169299
COSMIC: PGM2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169299ENST00000381967Q96G03
ENSG00000169299ENST00000505986E7ENQ8
ENSG00000169299ENST00000510084H0Y921
ENSG00000169299ENST00000512556E9PD70
ENSG00000169299ENST00000515668E7ENQ8
ENSG00000169299ENST00000625312E7ENQ8

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
Glycolysis / GluconeogenesisKEGGko00010
Pentose phosphate pathwayKEGGko00030
Galactose metabolismKEGGko00052
Purine metabolismKEGGko00230
Starch and sucrose metabolismKEGGko00500
Amino sugar and nucleotide sugar metabolismKEGGko00520
Glycolysis / GluconeogenesisKEGGhsa00010
Pentose phosphate pathwayKEGGhsa00030
Galactose metabolismKEGGhsa00052
Purine metabolismKEGGhsa00230
Starch and sucrose metabolismKEGGhsa00500
Amino sugar and nucleotide sugar metabolismKEGGhsa00520
Metabolic pathwaysKEGGhsa01100
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glucose metabolismREACTOMER-HSA-70326
Glycogen synthesisREACTOMER-HSA-3322077
Glycogen breakdown (glycogenolysis)REACTOMER-HSA-70221
Galactose catabolismREACTOMER-HSA-70370
Pentose phosphate pathway (hexose monophosphate shunt)REACTOMER-HSA-71336
Neutrophil degranulationREACTOMER-HSA-6798695

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
362557422023FGF20 and PGM2 variants are associated with childhood asthma in family-based whole-genome sequencing studies.0
362557422023FGF20 and PGM2 variants are associated with childhood asthma in family-based whole-genome sequencing studies.0
178044052007Molecular identification of mammalian phosphopentomutase and glucose-1,6-bisphosphate synthase, two members of the alpha-D-phosphohexomutase family.25
178044052007Molecular identification of mammalian phosphopentomutase and glucose-1,6-bisphosphate synthase, two members of the alpha-D-phosphohexomutase family.25

Citation

Dessen P

PGM2 (phosphoglucomutase 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71867/pgm2-(phosphoglucomutase-2)