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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 result... See more...
Aliases for GNPDA2 Gene
Aliases for GNPDA2 Gene
External Ids for GNPDA2 Gene
- HGNC: 21526
- Entrez Gene: 132789
- Ensembl: ENSG00000163281
- OMIM: 613222
- UniProtKB: Q8TDQ7
Previous GeneCards Identifiers for GNPDA2 Gene
- GC04M044619
- GC04M044545
- GC04M044398
- GC04M044704
- GC04M044025
Summaries for GNPDA2 Gene
-
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]
GeneCards Summary for GNPDA2 Gene
GNPDA2 (Glucosamine-6-Phosphate Deaminase 2) is a Protein Coding gene. Diseases associated with GNPDA2 include Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 and Body Mass Index Quantitative Trait Locus 11. Among its related pathways are Metabolism and Amino sugar and nucleotide sugar 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.
Additional gene information for GNPDA2 Gene
- HGNC(21526)
- Entrez Gene(132789)
- Ensembl(ENSG00000163281)
- OMIM(613222)
- UniProtKB(Q8TDQ7)
- Open Targets Platform(ENSG00000163281)
- Search for GNPDA2 at DataMed
- Search for GNPDA2 at HumanCyc
No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GNPDA2 Gene
Genomics for GNPDA2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for GNPDA2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around GNPDA2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GNPDA2
- Top Transcription factor binding sites by QIAGEN in the GNPDA2 gene promoter:
-
- AP-1
- c-Fos
- c-Jun
- Evi-1
- GATA-3
- LCR-F1
- Lmo2
- Pax-6
- POU3F1
Genomic Locations for GNPDA2 Gene
Genomic Locations for GNPDA2 Gene
- chr4:44,682,200-44,726,634
- (GRCh38/hg38)
- Size:
- 44,435 bases
- Orientation:
- Minus strand
- chr4:44,684,217-44,728,612
- (GRCh37/hg19)
- Size:
- 44,396 bases
- Orientation:
- Minus strand
Genomic View for GNPDA2 Gene
Genes around GNPDA2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4p12 by HGNC
- 4p12 by Entrez Gene
- 4p12 by Ensembl
GNPDA2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for GNPDA2 Gene
Proteins for GNPDA2 Gene
-
Protein details for GNPDA2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8TDQ7-GNPI2_HUMAN
- Recommended name:
- Glucosamine-6-phosphate isomerase 2
- Protein Accession:
- Q8TDQ7
- B4DJF3
- Q2VYF1
- Q59EA7
- Q8NCZ8
- Q96BJ4
- Q96NC6
Protein attributes for GNPDA2 Gene
- Size:
- 276 amino acids
- Molecular mass:
- 31085 Da
- Quaternary structure:
-
- Homohexamer.
- SequenceCaution:
-
- Sequence=BAD93141.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for GNPDA2 Gene
Selected DME Specific Peptides for GNPDA2 Gene
- Q8TDQ7:
-
- NFFKHIDI
- ALTVGVGT
- TFNMDEYV
- GHIAFNEP
- LASEWAAKYICN
- TGSTPLG
- VNHMWTVSA
- KTLAMDTILANA
- FNEPGSS
- VKTVKYFKGLM
- VHNKLVDPL
- HILDGNA
- DEDATLEL
- LFVGGIGPDGH
Post-translational modifications for GNPDA2 Gene
Other Protein References for GNPDA2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences GNPDA2 Antibody
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-
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-
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Protein Products
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Signalway ELISA kits for GNPDA2
Domains & Families for GNPDA2 Gene
Gene Families for GNPDA2 Gene
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
Protein Domains for GNPDA2 Gene
- InterPro:
- Blocks:
-
- Glucosamine-6-phosphate isomerase
- ProtoNet:
Suggested Antigen Peptide Sequences for GNPDA2 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ60594, highly similar to Homo sapiens glucosamine-6-phosphate deaminase 2 (GNPDA2), mRNA (B4DJF3_HUMAN)
- Glucosamine-6-phosphate isomerase SB52 (GNPI2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q8TDQ7UniProtKB/Swiss-Prot:
GNPI2_HUMAN :- Belongs to the glucosamine/galactosamine-6-phosphate isomerase family.
- Family:
-
- Belongs to the glucosamine/galactosamine-6-phosphate isomerase family.
Function for GNPDA2 Gene
Molecular function for GNPDA2 Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=alpha-D-glucosamine 6-phosphate + H2O = beta-D-fructose 6-phosphate + NH4(+); Xref=Rhea:RHEA:12172, ChEBI:CHEBI:15377, ChEBI:CHEBI:28938, ChEBI:CHEBI:57634, ChEBI:CHEBI:75989; EC=3.5.99.6;.
Enzyme Numbers (IUBMB) for GNPDA2 Gene
Phenotypes From GWAS Catalog for GNPDA2 Gene
| 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 |
Phenotypes for GNPDA2 Gene
Animal Model Products
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CRISPR Products
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miRNA for GNPDA2 Gene
- miRTarBase miRNAs that target GNPDA2
miRNA Products
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Clone Products
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Cell Line Products
-
Horizon Cell Lines for GNPDA2
No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GNPDA2 Gene
Localization for GNPDA2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for GNPDA2 Gene
- Cytoplasm.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| nucleus | 4 |
| plasma membrane | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
- Golgi apparatus (2)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | HDA | 21630459 |
| GO:0005737 | cytoplasm | IBA | 21873635 |
| GO:0005829 | cytosol | TAS | -- |
Pathways & Interactions for GNPDA2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Amino sugar and nucleotide sugar metabolism | ||
| 2 | Metabolism |
.40
|
|
| 3 | Glucose metabolism | ||
| 4 | Glycosaminoglycan metabolism | ||
Pathways by source for GNPDA2 Gene
3 BioSystems pathways for GNPDA2 Gene
3 Reactome pathways for GNPDA2 Gene
2 KEGG pathways for GNPDA2 Gene
Interacting Proteins for GNPDA2 Gene
Selected Interacting proteins:
Q8TDQ7-GNPI2_HUMAN
ENSP00000295448
for GNPDA2 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for GNPDA2
| 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 |
No data available for SIGNOR curated interactions for GNPDA2 Gene
Drugs & Compounds for GNPDA2 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| N-Acetyl-D-Glucosamine 6-Phosphate |
|
18191-20-3 |
|
Transcripts for GNPDA2 Gene
mRNA/cDNA for GNPDA2 Gene
- 3 REFSEQ mRNAs :
- 12 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000295448 2235 nts (view in UCSC)
- ENST00000507534 1050 nts (view in UCSC)
- ENST00000507917 2074 nts (view in UCSC)
- ENST00000509756 5382 nts (view in UCSC)
- ENST00000511187 1630 nts (view in UCSC)
CRISPR Products
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-
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miRNA Products
Inhibitory RNA Products
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Clone Products
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| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | ||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | |||||||||||||||||||||
| SP5: | - |
Relevant External Links for GNPDA2 Gene
- GeneLoc Exon Structure for
- GNPDA2
Expression for GNPDA2 Gene
This gene is overexpressed in Ovary (6.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GNPDA2 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GNPDA2
SOURCE GeneReport for Unigene cluster for GNPDA2 Gene:
Hs.21398Evidence on tissue expression from TISSUES for GNPDA2 Gene
- Nervous system(4.9)
- Kidney(4.3)
- Skin(2.2)
Primer Products
-
OriGene qPCR primer pairs for GNPDA2
-
OriGene qPCR primer pairs and template standards for GNPDA2
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GNPDA2 Gene
Orthologs for GNPDA2 Gene
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 |
|
- Species where no ortholog for GNPDA2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for GNPDA2 Gene
- ENSEMBL:
- Gene Tree for GNPDA2 (if available)
- TreeFam:
- Gene Tree for GNPDA2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for GNPDA2: view image
Paralogs for GNPDA2 Gene
(1) SIMAP similar genes for GNPDA2 Gene using alignment to 3 proteins:
- GNPI2_HUMAN
- V9GYK3_HUMAN
- V9GYW0_HUMAN
Pseudogenes.org Pseudogenes for GNPDA2 Gene
Variants for GNPDA2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GNPDA2 Gene
| SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 764907 | Likely Benign: not provided | 44,717,198(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 782992 | Benign: not provided | 44,722,112(-) | G/A | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
| rs17851302 | - | p.Pro182Ser |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1013488 | CNV | loss | 25217958 |
| nsv4319 | CNV | deletion | 18451855 |
Residual Variation Intolerance Score:
32.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.59;
12.74% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for GNPDA2 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- GNPDA2
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GNPDA2 Gene
Disorders for GNPDA2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 |
|
|
| body mass index quantitative trait locus 11 |
|
|
Search GNPDA2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for GNPDA2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for GNPDA2 Gene
Publications for GNPDA2 Gene
- Association between obesity and polymorphisms in SEC16B, TMEM18, GNPDA2, BDNF, FAIM2 and MC4R in a Japanese population. (PMID: 19851340) Hotta K … Nakamura Y (Journal of human genetics 2009) 3 23 41
- Two mammalian glucosamine-6-phosphate deaminases: a structural and genetic study. (PMID: 12965206) Arreola R … Horjales E (FEBS letters 2003) 2 3 4
- Genetic markers of adult obesity risk are associated with greater early infancy weight gain and growth. (PMID: 20520848) Elks CE … Ong KK (PLoS medicine 2010) 3 41
- Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population. (PMID: 20571754) Fontaine-Bisson B … Franks PW (Diabetologia 2010) 3 41
- Analyses of shared genetic factors between asthma and obesity in children. (PMID: 20816195) Melén E … Lasky-Su J (The Journal of allergy and clinical immunology 2010) 3 41
ExternalLinks
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Sources for GNPDA2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
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