Free for academic non-profit institutions. Other users need a Commercial license
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]
GNPDA2 (Glucosamine-6-Phosphate Deaminase 2) is a Protein Coding gene. Diseases associated with GNPDA2 include Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 and Leptin Deficiency Or Dysfunction. Among its related pathways are Amino sugar and nucleotide sugar metabolism and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity and glucosamine-6-phosphate deaminase activity. An important paralog of this gene is GNPDA1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004342 | glucosamine-6-phosphate deaminase activity | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 25416956 |
GO:0016787 | hydrolase activity | IEA | -- |
GO:0042802 | identical protein binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | HDA | 21630459 |
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Amino sugar and nucleotide sugar metabolism | ||
2 | Metabolism |
.40
|
|
3 | Glucose metabolism | ||
4 | Glycosaminoglycan metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005975 | carbohydrate metabolic process | IEA | -- |
GO:0006043 | glucosamine catabolic process | TAS | -- |
GO:0006044 | N-acetylglucosamine metabolic process | IEA | -- |
GO:0006046 | N-acetylglucosamine catabolic process | IBA | 21873635 |
GO:0006048 | UDP-N-acetylglucosamine biosynthetic process | IBA | 21873635 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
N-Acetyl-D-Glucosamine 6-Phosphate |
|
18191-20-3 |
|
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||
SP3: | - | - | - | - | - | ||||||||||||||||||||||
SP4: | - | - | - | - | - | - | |||||||||||||||||||||
SP5: | - |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GNPDA2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GNPDA2 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GNPDA2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GNPDA2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gnpda2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Gnpda2 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | GNPDA2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GNPDA2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gnpda2 30 |
|
||
Str.8141 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC68593 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | gnpda2 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Oscillin 30 31 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | GNPI_ANOGA 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | T03F6.3 31 |
|
OneToMany | |
CELE_T03F6.3 30 |
|
||||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10232 31 |
|
OneToMany | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU04727 30 |
|
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs141733877 | Benign: not provided | 44,722,112(-) |
G/A NM_138335.3(GNPDA2):c.96C>T (p.Asp32=) |
SYNONYMOUS_VARIANT,INTRON | |
rs374535255 | Likely Benign: not provided | 44,717,198(-) |
G/A NM_138335.3(GNPDA2):c.324C>T (p.Asp108=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
rs17851302 | - |
p.Pro182Ser |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1013488 | CNV | loss | 25217958 |
nsv4319 | CNV | deletion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 |
|
|
leptin deficiency or dysfunction |
|
|
type 2 diabetes mellitus |
|
|
body mass index quantitative trait locus 11 |
|
|