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Aliases for GFPT2 Gene

Aliases for GFPT2 Gene

  • Glutamine-Fructose-6-Phosphate Transaminase 2 2 3 5
  • Glutamine: Fructose-6-Phosphate Aminotransferase 2 2 3
  • Glutamine:Fructose-6-Phosphate Amidotransferase 2 3 4
  • D-Fructose-6-Phosphate Amidotransferase 2 3 4
  • Hexosephosphate Aminotransferase 2 3 4
  • EC 2.6.1.16 4 61
  • GFAT 2 3 4
  • GFAT2 3 4
  • Glucosamine--Fructose-6-Phosphate Aminotransferase [Isomerizing] 2 3
  • Glutamine--Fructose-6-Phosphate Aminotransferase [Isomerizing] 2 3
  • GFAT 3

External Ids for GFPT2 Gene

Previous GeneCards Identifiers for GFPT2 Gene

  • GC05M179841
  • GC05M180705
  • GC05M179837
  • GC05M179660
  • GC05M174452
  • GC05M179727

Summaries for GFPT2 Gene

GeneCards Summary for GFPT2 Gene

GFPT2 (Glutamine-Fructose-6-Phosphate Transaminase 2) is a Protein Coding gene. Diseases associated with GFPT2 include Pancreatic Steatorrhea and Lipodystrophy, Familial Partial, 2. Among its related pathways are Synthesis of substrates in N-glycan biosythesis and Metabolism of proteins. GO annotations related to this gene include carbohydrate binding and glutamine-fructose-6-phosphate transaminase (isomerizing) activity. An important paralog of this gene is GFPT1.

UniProtKB/Swiss-Prot for GFPT2 Gene

  • Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GFPT2 Gene

Genomics for GFPT2 Gene

Regulatory Elements for GFPT2 Gene

Enhancers for GFPT2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G180798 1.4 ENCODE dbSUPER 15 -452.2 -452184 14.1 CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 TBX21 ENSG00000233937 GFPT2 RACK1 RN7SKP150 LOC100996419 ENSG00000250900 TRIM7 MGAT1 ZFP62 ENSG00000280161
GH05G179696 1.4 ENCODE dbSUPER 13.6 +654.4 654443 4.9 CREB3L1 AGO1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 ZNF354B MAML1 CANX MGAT4B ZNF879 ZNF454 GFPT2 LOC100996419 MIR1229 LTC4S
GH05G181240 1.4 ENCODE dbSUPER 13.6 -891.8 -891812 9.0 CREB3L1 AGO1 DMAP1 YBX1 YY1 ZNF143 ZNF548 ZNF263 MCM3 SP3 TRIM52-AS1 ENSG00000233937 ZFP62 TRIM52 RACK1 GFPT2 ENSG00000248367 SNORD96A CNOT6 ENSG00000248514
GH05G181221 1.5 ENCODE dbSUPER 11.2 -869.9 -869865 4.4 CREB3L1 ZFP64 YBX1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 ENSG00000233937 TRIM52-AS1 RACK1 ENSG00000248367 TRIM52 SNORD96A GFPT2 TRIM7 MIR4638 PIR62653
GH05G180859 1.1 ENCODE 11.3 -507.6 -507620 2.3 PKNOX1 CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 CBX5 ZFP62 GFPT2 ENSG00000233937 TRIM52 LINC00847 GC05P180994
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GFPT2 on UCSC Golden Path with GeneCards custom track

Promoters for GFPT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000191655 287 1801 PKNOX1 KLF17 BMI1 GLIS2 SP3 NFYC ZEB2 ZNF645 NR2F2 MBD2

Genomic Location for GFPT2 Gene

Chromosome:
5
Start:
180,300,690 bp from pter
End:
180,353,387 bp from pter
Size:
52,698 bases
Orientation:
Minus strand

Genomic View for GFPT2 Gene

Genes around GFPT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GFPT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GFPT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GFPT2 Gene

Proteins for GFPT2 Gene

  • Protein details for GFPT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94808-GFPT2_HUMAN
    Recommended name:
    Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2
    Protein Accession:
    O94808
    Secondary Accessions:
    • Q53XM2
    • Q9BWS4

    Protein attributes for GFPT2 Gene

    Size:
    682 amino acids
    Molecular mass:
    76931 Da
    Quaternary structure:
    No Data Available

neXtProt entry for GFPT2 Gene

Selected DME Specific Peptides for GFPT2 Gene

O94808:
  • AGPEIGVA
  • FESETDTETIAKL
  • TRRGSPLLIGVRS
  • EGALKIKE
  • TLVERVIQQLEGAFALVFKS
  • EYRGYDS
  • KEIFEQP
  • EIGVASTK
  • IEHTNRV
  • VNSHPQRSDK
  • RGYDSAG
  • FASDASA
  • VIHNGIITNYKDL
  • AKCQNALQQV
  • QTLQMELQQIMKGNFS
  • GKVKALDE
  • HTRWATHG
  • LSVIPLQ
  • CGVHINAGPEI
  • GELKHGPLAL
  • QSGETAD

Post-translational modifications for GFPT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GFPT2 Gene

Domains & Families for GFPT2 Gene

Suggested Antigen Peptide Sequences for GFPT2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with GFPT2: view

No data available for Gene Families and UniProtKB/Swiss-Prot for GFPT2 Gene

Function for GFPT2 Gene

Molecular function for GFPT2 Gene

GENATLAS Biochemistry:
glutamine
UniProtKB/Swiss-Prot CatalyticActivity:
L-glutamine + D-fructose 6-phosphate = L-glutamate + D-glucosamine 6-phosphate.
UniProtKB/Swiss-Prot Function:
Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins.

Enzyme Numbers (IUBMB) for GFPT2 Gene

Gene Ontology (GO) - Molecular Function for GFPT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004360 glutamine-fructose-6-phosphate transaminase (isomerizing) activity TAS --
GO:0005515 protein binding IPI 21044950
GO:0008483 transaminase activity IEA --
GO:0016740 transferase activity IEA --
GO:0097367 carbohydrate derivative binding IEA --
genes like me logo Genes that share ontologies with GFPT2: view
genes like me logo Genes that share phenotypes with GFPT2: view

Animal Models for GFPT2 Gene

MGI Knock Outs for GFPT2:

Animal Model Products

  • Taconic Biosciences Mouse Models for GFPT2

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GFPT2 Gene

Localization for GFPT2 Gene

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 GFPT2 gene
Compartment Confidence
cytosol 5
extracellular 2
nucleus 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GFPT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with GFPT2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GFPT2 Gene

Pathways & Interactions for GFPT2 Gene

genes like me logo Genes that share pathways with GFPT2: view

UniProtKB/Swiss-Prot O94808-GFPT2_HUMAN

  • Pathway: Nucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D-glucosamine biosynthesis; alpha-D-glucosamine 6-phosphate from D-fructose 6-phosphate: step 1/1.

Gene Ontology (GO) - Biological Process for GFPT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006002 fructose 6-phosphate metabolic process TAS 10198162
GO:0006048 UDP-N-acetylglucosamine biosynthetic process TAS --
GO:0006112 energy reserve metabolic process TAS 10198162
GO:0006541 glutamine metabolic process IEA --
GO:1901135 carbohydrate derivative metabolic process IEA --
genes like me logo Genes that share ontologies with GFPT2: view

No data available for SIGNOR curated interactions for GFPT2 Gene

Drugs & Compounds for GFPT2 Gene

(4) Drugs for GFPT2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Glutamine Approved, Investigational Nutra Full agonist, Agonist, Enzyme, substrate 0
Famotidine Approved Pharma Histamine H2-receptor antagonist 61
glucosamine 6-phosphate Experimental Pharma 0
L-Glutamic Acid Nutra Full agonist, Agonist 0

(1) Additional Compounds for GFPT2 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
genes like me logo Genes that share compounds with GFPT2: view

Transcripts for GFPT2 Gene

Unigene Clusters for GFPT2 Gene

Glutamine-fructose-6-phosphate transaminase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GFPT2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b
SP1: - - - -
SP2: -
SP3: -
SP4:
SP5:
SP6:

Relevant External Links for GFPT2 Gene

GeneLoc Exon Structure for
GFPT2
ECgene alternative splicing isoforms for
GFPT2

Expression for GFPT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GFPT2 Gene

mRNA differential expression in normal tissues according to GTEx for GFPT2 Gene

This gene is overexpressed in Adipose - Visceral (Omentum) (x6.5).

Protein differential expression in normal tissues from HIPED for GFPT2 Gene

This gene is overexpressed in Liver (61.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GFPT2 Gene



NURSA nuclear receptor signaling pathways regulating expression of GFPT2 Gene:

GFPT2

SOURCE GeneReport for Unigene cluster for GFPT2 Gene:

Hs.696497

mRNA Expression by UniProt/SwissProt for GFPT2 Gene:

O94808-GFPT2_HUMAN
Tissue specificity: Highest levels of expression in heart, placenta, and spinal cord.

Evidence on tissue expression from TISSUES for GFPT2 Gene

  • Kidney(4.4)
  • Liver(3.1)
  • Blood(2.8)
  • Intestine(2.8)
  • Gall bladder(2.4)
  • Nervous system(2.4)
  • Muscle(2.3)
  • Stomach(2.3)
  • Heart(2.2)
genes like me logo Genes that share expression patterns with GFPT2: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for GFPT2 Gene

Orthologs for GFPT2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GFPT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GFPT2 34 35
  • 98.04 (n)
oppossum
(Monodelphis domestica)
Mammalia GFPT2 35
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 95 (a)
OneToMany
-- 35
  • 87 (a)
OneToMany
cow
(Bos Taurus)
Mammalia GFPT2 34 35
  • 91.98 (n)
dog
(Canis familiaris)
Mammalia GFPT2 34 35
  • 90.86 (n)
mouse
(Mus musculus)
Mammalia Gfpt2 34 16 35
  • 89.39 (n)
rat
(Rattus norvegicus)
Mammalia Gfpt2 34
  • 89.3 (n)
chicken
(Gallus gallus)
Aves GFPT2 34 35
  • 79.03 (n)
lizard
(Anolis carolinensis)
Reptilia GFPT2 35
  • 85 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii gfpt2 34 35
  • 73.73 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12662 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011352 34
  • 65.67 (n)
fruit fly
(Drosophila melanogaster)
Insecta Gfat2 36 34 35
  • 65.44 (n)
Gfat1 36 35
  • 63 (a)
worm
(Caenorhabditis elegans)
Secernentea F07A11.2 34 35
  • 60.47 (n)
F07A11.2b 36
  • 58 (a)
F07A11.2a 36
  • 57 (a)
F22B3.4 36 35
  • 57 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL036C 34
  • 60.36 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F13596g 34
  • 56.28 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GFA1 34 35 37
  • 55.44 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G24090 34
  • 54.74 (n)
rice
(Oryza sativa)
Liliopsida Os12g0131100 34
  • 58.91 (n)
corn
(Zea mays)
Liliopsida Zm.11907 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 65 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU11350 34
  • 59.29 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC12C2.11 34
  • 54.5 (n)
Species where no ortholog for GFPT2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for GFPT2 Gene

ENSEMBL:
Gene Tree for GFPT2 (if available)
TreeFam:
Gene Tree for GFPT2 (if available)

Paralogs for GFPT2 Gene

Paralogs for GFPT2 Gene

(1) SIMAP similar genes for GFPT2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with GFPT2: view

Variants for GFPT2 Gene

Sequence variations from dbSNP and Humsavar for GFPT2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs1000010701 -- 180,321,029(+) ACTTC(A/G/T)TATGC intron-variant
rs1000231077 -- 180,309,150(+) TACAG(A/G)CATCA intron-variant
rs1000237122 -- 180,353,856(+) GCCTG(G/T)CCCTC upstream-variant-2KB
rs1000271017 -- 180,336,349(+) CACGG(C/G)CTTAG intron-variant
rs1000302009 -- 180,303,908(+) GCCCT(C/G)CTAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GFPT2 Gene

Variant ID Type Subtype PubMed ID
dgv973e201 CNV deletion 23290073
esv2731327 CNV deletion 23290073
esv2731331 CNV deletion 23290073
esv2759398 CNV gain 17122850
esv3567112 CNV deletion 23714750
nsv1026417 CNV gain 25217958
nsv1033706 CNV gain 25217958
nsv10787 CNV gain 18304495
nsv830563 CNV loss 17160897

Variation tolerance for GFPT2 Gene

Residual Variation Intolerance Score: 2.53% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.59; 82.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GFPT2 Gene

Human Gene Mutation Database (HGMD)
GFPT2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GFPT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GFPT2 Gene

Disorders for GFPT2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for GFPT2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
pancreatic steatorrhea
  • pancreatic steatorrhea [dup]
lipodystrophy, familial partial, 2
  • lipodystrophy, familial partial, type 2
angular cheilitis
  • angular cheilosis
- elite association - COSMIC cancer census association via MalaCards
Search GFPT2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GFPT2

Genetic Association Database (GAD)
GFPT2
Human Genome Epidemiology (HuGE) Navigator
GFPT2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GFPT2
genes like me logo Genes that share disorders with GFPT2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GFPT2 Gene

Publications for GFPT2 Gene

  1. cDNA cloning and mapping of a novel subtype of glutamine:fructose-6- phosphate amidotransferase (GFAT2) in human and mouse. (PMID: 10198162) Oki T. … Tanaka I. (Genomics 1999) 2 3 4 22 64
  2. Association analysis of ADPRT1, AKR1B1, RAGE, GFPT2 and PAI-1 gene polymorphisms with chronic renal insufficiency among Asian Indians with type-2 diabetes. (PMID: 20353610) Prasad P. … Thelma B.K. (BMC Med. Genet. 2010) 3 22 46 64
  3. Common variants in glutamine:fructose-6-phosphate amidotransferase 2 (GFPT2) gene are associated with type 2 diabetes, diabetic nephropathy, and increased GFPT2 mRNA levels. (PMID: 14764791) Zhang H. … Elbein S.C. (J. Clin. Endocrinol. Metab. 2004) 3 22 46 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X. … Vidal M. (Cell 2016) 3 64

Products for GFPT2 Gene

Sources for GFPT2 Gene

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