Glucosamine-6-phosphate isomerase 2 (GNPDA2)
The protein contains 276 amino acids for an estimated molecular weight of 31085 Da.
No function (updated: Sept. 12, 2018)
Protein identification was indicated in the following studies:
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
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| Variant | Description |
|---|---|
| dbSNP:rs17851302 |
The reference OMIM entry for this protein is 613222
Glucosamine-6-phosphate deaminase 2; gnpda2
Gnp2
DESCRIPTION
Glucosamine-6-phosphate deaminase (EC 3.5.99.6) is an allosteric enzyme that catalyzes the reversible conversion of D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium (Arreola et al., 2003).CLONING
By searching databases for sequences similar to mouse Gnp2, Arreola et al. (2003) identified human GNP2. The deduced mouse and human GNP2 proteins contain 276 amino acids and share 96.8% identity. Human GNP1 (GNPDA1; 601798) and GNP2 share 87% amino acid identity.BIOCHEMICAL FEATURES
Using computer modeling, Arreola et al. (2003) compared the predicted conformation of human GNP2 with the crystal structure of human GNP1. Both enzymes shared the same fold and were predicted to form hexameric particles. Most of the differences between the 2 proteins were located at the surface. However, other substitutions appeared to reposition the phosphate-binding loop closer to the active site in GNP2 compared with GNP1.GENE STRUCTURE
Arreola et al. (2003) determined that the GNPDA2 gene contains 6 exons.MOLECULAR GENETICS
Willer et al. (2009) performed a metaanalysis of 15 genomewide association studies for BMI comprising 32,387 participants and followed up top signals in 14 additional cohorts comprising 59,082 participants. They identified association with a single-nucleotide polymorphism (SNP) near the GNPDA2 gene, dbSNP rs10938397, with a per-allele change in BMI of 0.19 and stage 1 plus stage 2 combined P value of 3.4 x 10(-16).MAPPING
By genomic sequence analysis, Arreola et al. (2003) mapped the GNPDA2 gene to chromosome 4p13. ... More on the omim web site
June 30, 2020: Protein entry updated
Automatic update: OMIM entry 613222 was added.
Feb. 23, 2019: Protein entry updated
Automatic update: comparative model was added.
Feb. 23, 2019: Protein entry updated
Automatic update: model status changed
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).