PGAM4 (phosphoglycerate mutase family member 4)

2014-11-01  

Identity

HGNC
PGAM4
LOCATION
Xq21.1
LOCUSID
441531
ALIAS
PGAM-B,PGAM1,PGAM3,dJ1000K24.1

Other Information

Locus ID:

NCBI: 441531
MIM: 300567
HGNC: 21731
Ensembl: ENSG00000226784

Variants:

dbSNP: 441531
ClinVar: 441531
TCGA: ENSG00000226784
COSMIC: PGAM4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000226784ENST00000458128Q8N0Y7

Expression (GTEx)

0
1
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
Glycolysis (Embden-Meyerhof pathway), glucose => pyruvateKEGGhsa_M00001
Glycolysis, core module involving three-carbon compoundsKEGGhsa_M00002
Gluconeogenesis, oxaloacetate => fructose-6PKEGGhsa_M00003
Glycolysis (Embden-Meyerhof pathway), glucose => pyruvateKEGGM00001
Glycolysis, core module involving three-carbon compoundsKEGGM00002
Gluconeogenesis, oxaloacetate => fructose-6PKEGGM00003
Biosynthesis of amino acidsKEGGhsa01230
Biosynthesis of amino acidsKEGGko01230
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
Central carbon metabolism in cancerKEGGhsa05230
Central carbon metabolism in cancerKEGGko05230
Glucagon signaling pathwayKEGGhsa04922
Glucagon signaling pathwayKEGGko04922

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
236316592013The PGAM4 gene in non-obstructive azoospermia.3
236316592013The PGAM4 gene in non-obstructive azoospermia.3
225905002012A single nucleotide polymorphism within the novel sex-linked testis-specific retrotransposed PGAM4 gene influences human male fertility.9
225905002012A single nucleotide polymorphism within the novel sex-linked testis-specific retrotransposed PGAM4 gene influences human male fertility.9

Citation

Dessen P

PGAM4 (phosphoglycerate mutase family member 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71854/meetings/js/_common.js