BPGM (bisphosphoglycerate mutase)

2007-04-01  

Identity

HGNC
BPGM
LOCATION
7q33
LOCUSID
669
ALIAS
DPGM,ECYT8
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 669
MIM: 613896
HGNC: 1093
Ensembl: ENSG00000172331

Variants:

dbSNP: 669
ClinVar: 669
TCGA: ENSG00000172331
COSMIC: BPGM

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000172331ENST00000344924P07738
ENSG00000172331ENST00000344924A0A024R782
ENSG00000172331ENST00000393132P07738
ENSG00000172331ENST00000393132A0A024R782
ENSG00000172331ENST00000418040P07738
ENSG00000172331ENST00000418040A0A024R782
ENSG00000172331ENST00000443095C9JH23

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
Glycolysis / GluconeogenesisKEGGko00010
Glycine, serine and threonine metabolismKEGGko00260
Glycolysis / GluconeogenesisKEGGhsa00010
Glycine, serine and threonine metabolismKEGGhsa00260
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glucose metabolismREACTOMER-HSA-70326

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
361776832023Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review.3
361776832023Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review.3
340529982021Dysregulation of bisphosphoglycerate mutase during in vitro maturation of oocytes.0
340529982021Dysregulation of bisphosphoglycerate mutase during in vitro maturation of oocytes.0
210452852010Unliganded structure of human bisphosphoglycerate mutase reveals side-chain movements induced by ligand binding.4
210452852010Unliganded structure of human bisphosphoglycerate mutase reveals side-chain movements induced by ligand binding.4
170529862006Seeing the process of histidine phosphorylation in human bisphosphoglycerate mutase.19
170529862006Seeing the process of histidine phosphorylation in human bisphosphoglycerate mutase.19
152581552004Crystal structure of human bisphosphoglycerate mutase.8
152581552004Crystal structure of human bisphosphoglycerate mutase.8

Citation

Dessen P

BPGM (bisphosphoglycerate mutase)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46998