GNPDA2 (glucosamine-6-phosphate deaminase 2)

2014-11-01  

Identity

HGNC
GNPDA2
LOCATION
4p12
LOCUSID
132789
ALIAS
GNP2,SB52
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 132789
MIM: 613222
HGNC: 21526
Ensembl: ENSG00000163281

Variants:

dbSNP: 132789
ClinVar: 132789
TCGA: ENSG00000163281
COSMIC: GNPDA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163281ENST00000295448Q8TDQ7
ENSG00000163281ENST00000295448A0A024R9X5
ENSG00000163281ENST00000507534Q8TDQ7
ENSG00000163281ENST00000507917Q8TDQ7
ENSG00000163281ENST00000509756Q8TDQ7
ENSG00000163281ENST00000608855V9GYW0
ENSG00000163281ENST00000609092V9GYK3

Expression (GTEx)

0
5
10
15
20
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
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
268873902016Hexosamine biosynthesis in keratinocytes: roles of GFAT and GNPDA enzymes in the maintenance of UDP-GlcNAc content and hyaluronan synthesis.23
268873902016Hexosamine biosynthesis in keratinocytes: roles of GFAT and GNPDA enzymes in the maintenance of UDP-GlcNAc content and hyaluronan synthesis.23
207250612011MC4R variant is associated with BMI but not response to resistance training in young females.12
207250612011MC4R variant is associated with BMI but not response to resistance training in young females.12
197464092010Are recently identified genetic variants regulating BMI in the general population associated with anorexia nervosa?6
198121712010Cumulative effects and predictive value of common obesity-susceptibility variants identified by genome-wide association studies.89
199106412010Obesity genotype score and cardiovascular risk in women with type 2 diabetes mellitus.18
199109382010Novel obesity risk loci do not determine distribution of body fat depots: a whole-body MRI/MRS study.17
202153972010Implication of genetic variants near NEGR1, SEC16B, TMEM18, ETV5/DGKG, GNPDA2, LIN7C/BDNF, MTCH2, BCDIN3D/FAIM2, SH2B1, FTO, MC4R, and KCTD15 with obesity and type 2 diabetes in 7705 Chinese.58
205208482010Genetic markers of adult obesity risk are associated with greater early infancy weight gain and growth.81
205717542010Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.31
207129032010Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.0
207245812010Genetic susceptibility to obesity and related traits in childhood and adolescence: influence of loci identified by genome-wide association studies.56
208161522010Obesity and diabetes genetic variants associated with gestational weight gain.27
208161952010Analyses of shared genetic factors between asthma and obesity in children.63

Citation

Dessen P

GNPDA2 (glucosamine-6-phosphate deaminase 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63866/gnpda2-(glucosamine-6-phosphate-deaminase-2)