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Aliases for GNPDA2 Gene

Aliases for GNPDA2 Gene

  • Glucosamine-6-Phosphate Deaminase 2 2 3 4 5
  • Glucosamine-6-Phosphate Isomerase SB52 3 4
  • GlcN6P Deaminase 2 3 4
  • EC 3.5.99.6 4 56
  • GNP2 3 4
  • Glucosamine-6-Phosphate Isomerase 2 3
  • Glucosamine-6-Phosphate Isomerase 2
  • GNPDA 2 4
  • SB52 3

External Ids for GNPDA2 Gene

Previous GeneCards Identifiers for GNPDA2 Gene

  • GC04M044619
  • GC04M044545
  • GC04M044398
  • GC04M044704
  • GC04M044025

Summaries for GNPDA2 Gene

Entrez Gene Summary 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 Glycosaminoglycan 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.

Gene Wiki entry for GNPDA2 Gene

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
GH04I044725 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 552.5 +0.5 485 2.2 ATF1 ZFP64 ARID4B DMAP1 ZNF48 YY1 POLR2B GLIS2 ZNF143 RUNX3 GNPDA2 LOC105374439 GUF1 KCTD8 ENSG00000272936
GH04I044677 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
GH04I044764 Enhancer 0.2 ENCODE 40 -38.8 -38778 1.2 GNPDA2 GUF1 KCTD8 LOC105374439 LOC105374440
GH04I044522 Enhancer 0.2 ENCODE 13.2 +203.2 203215 2.4 KCTD8 GNPDA2 GUF1 ENSG00000251159
GH04I044863 Enhancer 0.4 ENCODE 5.3 -137.3 -137305 1.6 SP1 POU5F1 REST GUF1 GNPDA2 LOC100419045 LOC105374441
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GNPDA2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GNPDA2 gene promoter:

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)

Genomic View for GNPDA2 Gene

Genes around GNPDA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNPDA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GNPDA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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};

    Alternative splice isoforms for GNPDA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry 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

  • Ubiquitination at posLast=160160 and isoforms=2, 3, 4, 5172
  • Modification sites at PhosphoSitePlus

Other Protein References for GNPDA2 Gene

Domains & Families for GNPDA2 Gene

Gene Families for GNPDA2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q8TDQ7

UniProtKB/Swiss-Prot:

GNPI2_HUMAN :
  • Belongs to the glucosamine/galactosamine-6-phosphate isomerase family.
Family:
  • Belongs to the glucosamine/galactosamine-6-phosphate isomerase family.
genes like me logo Genes that share domains with GNPDA2: view

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

Gene Ontology (GO) - Molecular Function 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 --
genes like me logo Genes that share ontologies with GNPDA2: view
genes like me logo Genes that share phenotypes with GNPDA2: view

Animal Model Products

CRISPR Products

miRNA for GNPDA2 Gene

Inhibitory RNA Products

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GNPDA2 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
cytoskeleton 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GNPDA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA,IDA 21630459
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with GNPDA2: view

Pathways & Interactions for GNPDA2 Gene

genes like me logo Genes that share pathways with GNPDA2: view

Gene Ontology (GO) - Biological Process for GNPDA2 Gene

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 --
genes like me logo Genes that share ontologies with GNPDA2: view

No data available for SIGNOR curated interactions for GNPDA2 Gene

Drugs & Compounds for GNPDA2 Gene

(3) Drugs for GNPDA2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ammonia Approved Pharma 0
Water Approved Pharma 0
glucosamine 6-phosphate Experimental Pharma 0

(2) Additional Compounds for GNPDA2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fructose 6-phosphate
  • D-Fructose 6-phosphate
  • D-Fructose 6-phosphorate
  • D-Fructose 6-phosphoric acid
  • D-Fructose-6-P
  • D-Fructose-6-phosphate
643-13-0
N-Acetyl-D-Glucosamine 6-Phosphate
  • N-Acetyl-D-Glucosamine 6-Phosphate
  • N-Acetyl-D-glucosamine-6-p
  • N-Acetyl-D-glucosamine-6-phosphate
  • N-Acetyl-glucosamine-6-p
  • N-Acetyl-glucosamine-6-phosphate
18191-20-3
genes like me logo Genes that share compounds with GNPDA2: view

Transcripts for GNPDA2 Gene

Unigene Clusters for GNPDA2 Gene

Glucosamine-6-phosphate deaminase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for GNPDA2 Gene

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
ECgene alternative splicing isoforms for
GNPDA2

Expression for GNPDA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GNPDA2 Gene

Protein differential expression in normal tissues from HIPED for GNPDA2 Gene

This gene is overexpressed in Ovary (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GNPDA2 Gene



Protein tissue co-expression partners for GNPDA2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GNPDA2 Gene:

GNPDA2

SOURCE GeneReport for Unigene cluster for GNPDA2 Gene:

Hs.21398

Evidence on tissue expression from TISSUES for GNPDA2 Gene

  • Nervous system(4.8)
  • Kidney(4.2)
genes like me logo Genes that share expression patterns with GNPDA2: view

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.

Orthologs for GNPDA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GNPDA2 33 34
  • 99.88 (n)
oppossum
(Monodelphis domestica)
Mammalia GNPDA2 34
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GNPDA2 33 34
  • 95.17 (n)
dog
(Canis familiaris)
Mammalia GNPDA2 33 34
  • 93.36 (n)
rat
(Rattus norvegicus)
Mammalia Gnpda2 33
  • 90.94 (n)
mouse
(Mus musculus)
Mammalia Gnpda2 33 16 34
  • 89.61 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 77 (a)
ManyToMany
chicken
(Gallus gallus)
Aves GNPDA2 33 34
  • 85.28 (n)
lizard
(Anolis carolinensis)
Reptilia GNPDA2 34
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gnpda2 33
  • 79.49 (n)
Str.8141 33
African clawed frog
(Xenopus laevis)
Amphibia MGC68593 33
zebrafish
(Danio rerio)
Actinopterygii gnpda2 33 34
  • 74.45 (n)
fruit fly
(Drosophila melanogaster)
Insecta Oscillin 33 34
  • 66.67 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta GNPI_ANOGA 33
  • 63.67 (n)
worm
(Caenorhabditis elegans)
Secernentea T03F6.3 34
  • 67 (a)
OneToMany
CELE_T03F6.3 33
  • 62.14 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10232 34
  • 78 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU04727 33
  • 56.26 (n)
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)

Paralogs for GNPDA2 Gene

Paralogs for GNPDA2 Gene

(1) SIMAP similar genes for GNPDA2 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for GNPDA2 Gene

genes like me logo Genes that share paralogs with GNPDA2: view

Variants for GNPDA2 Gene

Sequence variations from dbSNP and Humsavar 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

Structural Variations from Database of Genomic Variants (DGV) for GNPDA2 Gene

Variant ID Type Subtype PubMed ID
nsv1013488 CNV loss 25217958
nsv4319 CNV deletion 18451855

Variation tolerance for GNPDA2 Gene

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

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

  1. 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
  2. Two mammalian glucosamine-6-phosphate deaminases: a structural and genetic study. (PMID: 12965206) Arreola R … Horjales E (FEBS letters 2003) 2 3 4 58
  3. 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
  4. 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
  5. 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

Products for GNPDA2 Gene

Sources for GNPDA2 Gene

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