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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 56
  • 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, Type 2. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (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.

Additional gene information for GFPT2 Gene

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

GeneHancer (GH) Regulatory Elements for GFPT2 Gene

Promoters and enhancers for GFPT2 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
GH05I180351 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.4 389 2.4 PKNOX1 KLF17 BMI1 ZNF335 GLIS2 ZNF213 SMARCA5 SP3 ZBTB11 NFYC GFPT2 BTNL9 PIR49031
GH05I181221 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 20.9 -869.9 -869865 4.4 CLOCK ZFP64 YBX1 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 PIR33457 MIR4638 TRK-CTT2-3 PIR62653 TRV-CAC1-5 TRIM41 ENSG00000233937 RACK1 TRIM52 TRIM52-AS1
GH05I180798 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 15 -452.2 -452183 14.1 ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF263 SP3 MGAT1 ENSG00000233937 RACK1 GFPT2 RN7SKP150 LOC100996419 ENSG00000250900 TRIM7 ZFP62 ENSG00000280161
GH05I179696 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 13.6 +654.4 654442 4.9 CLOCK FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC CANX GC05M179696 MAML1 HNRNPH1 ZNF354B RUFY1 MRNIP ZNF879 LOC101928445 ADAMTS2
GH05I181202 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.4 -852.3 -852323 5.6 CLOCK ZFP64 IRF4 YY1 ZNF213 E2F8 SP3 NFYC ZNF610 GLIS1 TRIM7 ENSG00000248514 GC05P181245 PIR42038 TRA-TGC3-1 TRIM52 ENSG00000233937 ZFP62 CNOT6 RACK1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GFPT2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GFPT2 gene promoter:

Genomic Locations for GFPT2 Gene

Genomic Locations for GFPT2 Gene
chr5:180,300,690-180,353,387
(GRCh38/hg38)
Size:
52,698 bases
Orientation:
Minus strand
chr5:179,727,690-179,780,387
(GRCh37/hg19)

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

No Post-translational modifications

Other Protein References for GFPT2 Gene

Domains & Families for GFPT2 Gene

Gene Families for GFPT2 Gene

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

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 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

Phenotypes From GWAS Catalog 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

CRISPR Products

Inhibitory RNA 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

Subcellular locations from the

Human Protein Atlas (HPA)

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:0006047 UDP-N-acetylglucosamine metabolic process IBA --
GO:0006048 UDP-N-acetylglucosamine biosynthetic process TAS --
GO:0006112 energy reserve metabolic process TAS 10198162
GO:0006487 protein N-linked glycosylation IBA --
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 64
Glutamic Acid Approved Nutra Full agonist, Agonist 251
glucosamine 6-phosphate Experimental Pharma 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

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)
  • Heart(2.3)
  • Muscle(2.3)
  • Stomach(2.3)
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 33 34
  • 98.04 (n)
oppossum
(Monodelphis domestica)
Mammalia GFPT2 34
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 95 (a)
OneToMany
-- 34
  • 87 (a)
OneToMany
cow
(Bos Taurus)
Mammalia GFPT2 33 34
  • 91.98 (n)
dog
(Canis familiaris)
Mammalia GFPT2 33 34
  • 90.86 (n)
mouse
(Mus musculus)
Mammalia Gfpt2 33 16 34
  • 89.39 (n)
rat
(Rattus norvegicus)
Mammalia Gfpt2 33
  • 89.3 (n)
chicken
(Gallus gallus)
Aves GFPT2 33 34
  • 79.03 (n)
lizard
(Anolis carolinensis)
Reptilia GFPT2 34
  • 85 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii gfpt2 33 34
  • 73.73 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12662 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011352 33
  • 65.67 (n)
fruit fly
(Drosophila melanogaster)
Insecta Gfat2 35 33 34
  • 65.44 (n)
Gfat1 35 34
  • 63 (a)
worm
(Caenorhabditis elegans)
Secernentea F07A11.2 33 34
  • 60.47 (n)
F07A11.2b 35
  • 58 (a)
F07A11.2a 35
  • 57 (a)
F22B3.4 35 34
  • 57 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL036C 33
  • 60.36 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F13596g 33
  • 56.28 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GFA1 33 34 36
  • 55.44 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G24090 33
  • 54.74 (n)
rice
(Oryza sativa)
Liliopsida Os12g0131100 33
  • 58.91 (n)
corn
(Zea mays)
Liliopsida Zm.11907 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 65 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU11350 33
  • 59.29 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC12C2.11 33
  • 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 Variation AA Info Type
rs1000010701 -- 180,321,029(-) G/A/T intron_variant
rs1000231077 -- 180,309,150(-) G/A intron_variant
rs1000237122 -- 180,353,856(-) G/T upstream_transcript_variant
rs1000271017 -- 180,336,349(-) G/C/T intron_variant
rs1000302009 -- 180,303,908(-) G/C intron_variant

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

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

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)

Additional Variant Information 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: HGMD and DISEASES

Disorder Aliases PubMed IDs
pancreatic steatorrhea
  • pancreatic steatorrhea [dup]
lipodystrophy, familial partial, type 2
  • fpld2
angular cheilitis
  • angular cheilosis
- elite association - COSMIC cancer census association via MalaCards
Search GFPT2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GFPT2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  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 BK (BMC medical genetics 2010) 3 22 44 58
  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 SC (The Journal of clinical endocrinology and metabolism 2004) 3 22 44 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for GFPT2 Gene

Sources for GFPT2 Gene

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