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. Among its related pathways are Amino sugar and nucleotide sugar metabolism and 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
No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GNPDA2 Gene
Genomics for GNPDA2 Gene
GeneHancer (GH) Regulatory Elements for GNPDA2 Gene
Promoters and enhancers for GNPDA2 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH04J044725 | Promoter/Enhancer | 2.2 | EPDnew FANTOM5 Ensembl ENCODE | 652.5 | +0.5 | 485 | 2.2 | ZFP64 ARID4B DMAP1 YY1 POLR2B ZNF143 NFYC REST KAT8 SMARCA4 | GNPDA2 LOC105374439 YIPF7 GUF1 KCTD8 ENSG00000272936 | |
| GH04J044677 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE | 12.9 | +47.6 | 47605 | 3 | PKNOX1 ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 ZNF207 JUNB ZHX2 | GUF1 YIPF7 ENSG00000273369 GNPDA2 GC04M044690 | |
| GH04J044764 | Enhancer | 0.2 | ENCODE | 40 | -38.8 | -38778 | 1.2 | GNPDA2 GUF1 KCTD8 LOC105374439 LOC105374440 | ||
| GH04J044863 | Enhancer | 0.5 | ENCODE | 5.3 | -137.3 | -137305 | 1.6 | SP1 NANOG POU5F1 REST | GUF1 GNPDA2 LOC100419045 LOC105374441 | |
| GH04J044522 | Enhancer | 0.2 | ENCODE | 13.2 | +203.2 | 203215 | 2.4 | KCTD8 GNPDA2 GUF1 ENSG00000251159 |
- 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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the GNPDA2 gene promoter:
-
- Lmo2
- c-Jun
- c-Fos
- AP-1
- Evi-1
- GATA-3
- Pax-6
- POU3F1
- LCR-F1
Regulatory Element Products
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 Entrez Gene
- 4p12 by HGNC
- 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
Post-translational modifications for GNPDA2 Gene
Other Protein References for GNPDA2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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-
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No data available for DME Specific Peptides for GNPDA2 Gene
Domains & Families for GNPDA2 Gene
Gene Families for GNPDA2 Gene
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
Protein Domains for GNPDA2 Gene
Suggested Antigen Peptide Sequences for GNPDA2 Gene
- GenScript: Design optimal peptide antigens:
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:
- Alpha-D-glucosamine 6-phosphate + H(2)O = D-fructose 6-phosphate + NH(3).
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 | TAS | -- |
| GO:0005515 | protein binding | IPI | 25416956 |
| GO:0016787 | hydrolase activity | IEA | -- |
Phenotypes for GNPDA2 Gene
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miRNA for GNPDA2 Gene
- miRTarBase miRNAs that target GNPDA2
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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 |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 2 |
| cytoskeleton | 1 |
| peroxisome | 1 |
- Golgi apparatus (2)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | HDA | 21630459 |
| GO:0005737 | cytoplasm | IEA,IBA | -- |
| GO:0005829 | cytosol | TAS | -- |
Pathways & Interactions for GNPDA2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Amino sugar and nucleotide sugar metabolism | ||
| 2 | Metabolism |
.37
|
|
| 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:
ENSP00000295448
Q8TDQ7-GNPI2_HUMAN
for GNPDA2 Gene via
STRING
UniProtKB
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 | -- |
| GO:0006048 | UDP-N-acetylglucosamine biosynthetic process | IBA | -- |
No data available for SIGNOR curated interactions for GNPDA2 Gene
Drugs & Compounds for GNPDA2 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Fructose 6-phosphate |
|
643-13-0 |
|
|||
| N-Acetyl-D-Glucosamine 6-Phosphate |
|
18191-20-3 |
|
Drug Products
Transcripts for GNPDA2 Gene
mRNA/cDNA for GNPDA2 Gene
- (3) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (1) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000608855 570 bps (uc062whz.1)
- ENST00000609092 484 bps (uc062wia.1)
- ENST00000507917 2074 bps (uc010iga.5)
- ENST00000295448 1930 bps (uc003gwy.5)
- ENST00000507534 1050 bps (uc011bzb.4)
Unigene Clusters for GNPDA2 Gene
CRISPR Products
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-
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-
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Clone Products
- Sino Biological Human cDNA Clone for GNPDA2
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | ||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | |||||||||||||||||||||
| SP5: | - |
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
NURSA nuclear receptor signaling pathways regulating expression of GNPDA2 Gene:
GNPDA2SOURCE GeneReport for Unigene cluster for GNPDA2 Gene:
Hs.21398Evidence on tissue expression from TISSUES for GNPDA2 Gene
- Nervous system(4.8)
- Kidney(4.2)
Primer Products
-
OriGene qPCR primer pairs for GNPDA2
-
OriGene qPCR primer pairs and template standards for GNPDA2
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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 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | GNPDA2 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | GNPDA2 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | GNPDA2 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Gnpda2 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Gnpda2 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
ManyToMany | |
| chicken (Gallus gallus) |
Aves | GNPDA2 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | GNPDA2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | gnpda2 33 |
|
||
| Str.8141 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68593 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | gnpda2 34 33 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | Oscillin 34 33 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | GNPI_ANOGA 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | T03F6.3 34 |
|
OneToMany | |
| CELE_T03F6.3 33 |
|
||||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.10232 34 |
|
OneToMany | |
| bread mold (Neurospora crassa) |
Ascomycetes | NCU04727 33 |
|
- Species where no ortholog for GNPDA2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 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
| SNP ID | Clin | Chr 04 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000043502 | -- | 44,714,501(-) | G/A | intron_variant | |
| rs1000072246 | -- | 44,723,156(-) | A/G | intron_variant | |
| rs1000134023 | -- | 44,721,490(-) | C/T | intron_variant | |
| rs1000157310 | -- | 44,701,652(-) | C/T | downstream_transcript_variant | |
| rs1000237136 | -- | 44,708,615(-) | A/G | intron_variant |
| 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
Additional Disease Information for GNPDA2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No disorders were found for GNPDA2 Gene.
No data available for MalaCards , 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 22 44 58
- Two mammalian glucosamine-6-phosphate deaminases: a structural and genetic study. (PMID: 12965206) Arreola R … Horjales E (FEBS letters 2003) 2 3 4 58
- Are recently identified genetic variants regulating BMI in the general population associated with anorexia nervosa? (PMID: 19746409) Brandys MK … Adan RAH (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 44 58
- Cumulative effects and predictive value of common obesity-susceptibility variants identified by genome-wide association studies. (PMID: 19812171) Li S … Loos RJ (The American journal of clinical nutrition 2010) 3 44 58
- Obesity genotype score and cardiovascular risk in women with type 2 diabetes mellitus. (PMID: 19910641) He M … Qi L (Arteriosclerosis, thrombosis, and vascular biology 2010) 3 44 58
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Sources for GNPDA2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt