GNPDA2 ( 4p12), GNP2, SB52. eräs obesitakselle altistava geeni, BMI-vaikutuksellinen.

Hexosaminibiosynteesi-järejstelmään kuuluvia  geenejä:

GNPDA1 GlcN-6P deaminaasi 1
GNPDA2, GlcN-6P deaminaasi 2
GFAT1, glutamiini--fru6P- aminotaransferaasi 1
GFAT2, glutamiini-fru6P- aminotransferaasi2
 HAS2 , hyaluronaanisyntaasi2

https://www.ncbi.nlm.nih.gov/gene/132789

Tämän geenin nimi on  GNPD2, glukosamini-6-fosfaattideaminaasi 2. 
Muita nimiä o GNP2, SB52. 

Proteiini, jonka tämä geeni on koodannut,  on allosteerinen entsyymi, joka katalysoi käänteistä reaktiota muuttaen D-glukosamini-6 -fosfaatin D- fruktoosi-6-fosfaatiksi ja ammoniumiksi. Tämän geenin variaatioita  on raportoitu assosioituneen BMI-vaikutukseen ja alttiuteen liikalihavuudelle.  Pseudogeeni on kromosomissa 9. Alternativiset pleissaustuotteet  johtavat moniin transskripteihin, jotka koodaavat eri proteiini-isoformeja.  Geeniä ilmenee ovariossa, kilpirauhasessa ja 25 muussa kudoksessa.

• GNPDA2 glucosamine-6-phosphate deaminase 2 [ Homo sapiens (human) ]

• Gene ID: 132789, updated on 2-Oct-2018

• Also known as GNP2; SB52

Summary. The protein encoded by this gene is an allosteric enzyme that catalyzes the reversible reaction converting D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium. Variations of this gene have been reported to be associated with influencing body mass index and susceptibility to obesity. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]

Expression. Ubiquitous expression in ovary (RPKM 8.8), thyroid (RPKM 8.8) and 25 other tissues See more Orthologs  mouse all

Related articles in PubMed

1. Genetic susceptibility, birth weight and obesity risk in young Chinese. Hong J, et al. Int J Obes (Lond), 2013 May. PMID 22710927
2. Susceptibility variants for obesity and colorectal cancer risk: the multiethnic cohort and PAGE studies. Lim U, et al. Int J Cancer, 2012 Sep 15. PMID 22511254, Free PMC Article
3. Adult obesity susceptibility variants are associated with greater childhood weight gain and a faster tempo of growth: the 1946 British Birth Cohort Study. Elks CE, et al. Am J Clin Nutr, 2012 May. PMID 22456663, Free PMC Article
4. Genetic risk score does not correlate with body mass index of Latina women in a clinical trial. Coenen KR, et al. Clin Transl Sci, 2011 Oct. PMID 22029802, Free PMC Article
5. Studies of metabolic phenotypic correlates of 15 obesity associated gene variants. Sandholt CH, et al. PLoS One, 2011. PMID 21912638, Free PMC Article Associations with overweight and/or obesity and measures of obesity were confirmed for seven out of the 15 gene variants. The obesity risk allele of BDNF rs4923461 protected against type 2 diabetes, which could suggest neuronal and peripheral distinctive ways of actions for the protein. SH2B1 rs7498665 associated with type 2 diabetes independently of BMI.

See all (56) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

1. GNPDA1 siRNA induced GFAT2 which was hardly measurable in these cells under standard culture conditions, GNPDA2 siRNA increased GFAT1, and GFAT1 siRNA increased the expression of hyaluronan synthase 2 (HAS2). Silencing of GFAT1 stimulated GNPDA1 and GDPDA2, and inhibited cell migration.
2. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
3. Data show that SNPs in SEC16B and TMEM18 were significantly associated with obesity, and the SNPs in GNPDA2, BDNF, FAIM2 and MC4R were marginally associated with obesity in Japanese.
4. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
5. Observational study of gene-disease association. (HuGE Navigator)
6. Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)

Submit: New GeneRIF Correction

• Glycobiology. 2016 Jul;26(7):710-22. doi: 10.1093/glycob/cww019. Epub 2016 Feb 16.

• Hexosamine biosynthesis in keratinocytes: roles of GFAT and GNPDA enzymes in the maintenance of UDP-GlcNAc content and hyaluronan synthesis. Oikari S¹, Makkonen K², Deen AJ³, Tyni I³, Kärnä R³, Tammi RH³, Tammi MI³. Abstract

• UDP-N-acetylglucosamine (UDP-GlcNAc) is a glucose metabolite with pivotal functions as a key substrate for the synthesis of glycoconjugates like hyaluronan, and as a metabolic sensor that controls cell functions through O-GlcNAc modification of intracellular proteins. However, little is known about the regulation of hexosamine biosynthesis that controls UDP-GlcNAc content. Four enzymes can catalyze the crucial starting point of the pathway, conversion of fructose-6-phosphate (Fru6P) to glucosamine-6-phosphate (GlcN6P): glutamine-fructose-6-phosphate aminotransferases (GFAT1 and 2) and glucosamine-6-phosphate deaminases (GNPDA1 and 2). Using siRNA silencing, we studied the contributions of these enzymes to UDP-GlcNAc content and hyaluronan synthesis in human keratinocytes. Depletion of GFAT1 reduced the cellular pool of UDP-GlcNAc and hyaluronan synthesis, while simultaneous blocking of both GNPDA1 and GDPDA2 exerted opposite effects, indicating that in standard culture conditions keratinocyte GNPDAs mainly catalyzed the reaction from GlcN6P back to Fru6P. However, when hexosamine biosynthesis was blocked by GFAT1 siRNA, the effect by GNPDAs was reversed, now catalyzing Fru6P towards GlcN6P, likely in an attempt to maintain UDP-GlcNAc content. Silencing of these enzymes also changed the gene expression of related enzymes: GNPDA1 siRNA induced GFAT2 which was hardly measurable in these cells under standard culture conditions, GNPDA2 siRNA increased GFAT1, and GFAT1 siRNA increased the expression of hyaluronan synthase 2 (HAS2). Silencing of GFAT1 stimulated GNPDA1 and GDPDA2, and inhibited cell migration. The multiple delicate adjustments of these reactions demonstrate the importance of hexosamine biosynthesis in cellular homeostasis, known to be deranged in diseases like diabetes and cancer. KEYWORDS:  GFAT; GNPDA; UDP-N-acetylglucosamine; hexosamine biosynthesis; hyaluronan