Aliases for GFPT2 Gene

Aliases for GFPT2 Gene

  • Glutamine-Fructose-6-Phosphate Transaminase 2 2 3 5
  • GFAT2 2 3 4
  • Glutamine--Fructose-6-Phosphate Aminotransferase [Isomerizing] 2 3 4
  • 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 50
  • GFAT 2 3 4
  • Glucosamine--Fructose-6-Phosphate Aminotransferase [Isomerizing] 2 3
  • GFPT2 5
  • 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. Among its related pathways are Insulin resistance and Amino sugar and nucleotide sugar metabolism. 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 Summary 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 , Rfam classification and piRNA Summary for GFPT2 Gene

Genomics for GFPT2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GFPT2 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 GFPT2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GFPT2

Top Transcription factor binding sites by QIAGEN in the GFPT2 gene promoter:
  • AhR
  • Arnt
  • CP2
  • Evi-1
  • IRF-1
  • MyoD
  • Olf-1
  • Pax-4a
  • RORalpha1
  • RREB-1

Genomic Locations for GFPT2 Gene

Latest Assembly
chr5:180,300,698-180,353,336
(GRCh38/hg38)
Size:
52,639 bases
Orientation:
Minus strand

Previous Assembly
chr5:179,727,698-179,780,336
(GRCh37/hg19 by Entrez Gene)
Size:
52,639 bases
Orientation:
Minus strand

chr5:179,727,690-179,780,387
(GRCh37/hg19 by Ensembl)
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

Gene Families for GFPT2 Gene

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

Protein Domains for GFPT2 Gene

InterPro:
Blocks:
  • Glutamine amidotransferase, class-II
  • Sugar isomerase (SIS)

Suggested Antigen Peptide Sequences for GFPT2 Gene

GenScript: Design optimal peptide antigens:
  • Hexosephosphate aminotransferase 2 (GFPT2_HUMAN)
genes like me logo Genes that share domains with GFPT2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for GFPT2 Gene

Function for GFPT2 Gene

Molecular function for GFPT2 Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=D-fructose 6-phosphate + L-glutamine = D-glucosamine 6-phosphate + L-glutamate; Xref=Rhea:RHEA:13237, ChEBI:CHEBI:29985, ChEBI:CHEBI:58359, ChEBI:CHEBI:58725, ChEBI:CHEBI:61527; EC=2.6.1.16; Evidence={ECO:0000250|UniProtKB:P82808};.
GENATLAS Biochemistry:
glutamine:fructose-6-phosphate amidotransferase 2,mainly expressed in the central nervous system,especially in the spinal cord

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 IBA 21873635
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:
  • Gfpt2 Gfpt2<tm1b(EUCOMM)Wtsi>

Animal Models for research

  • Taconic Biosciences Mouse Models for GFPT2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GFPT2

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 4
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 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,IBA 21873635
GO:0006047 UDP-N-acetylglucosamine metabolic process IBA 21873635
GO:0006048 UDP-N-acetylglucosamine biosynthetic process TAS --
GO:0006112 energy reserve metabolic process TAS 10198162
GO:0006487 protein N-linked glycosylation IBA 21873635
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Glutamine Approved, Investigational Nutra Enzyme, substrate 0
Famotidine Approved Pharma Histamine H2-receptor antagonist 99
Glutamic acid Approved Nutra 324
Fructose 6-phosphate Experimental Pharma 0
glucosamine 6-phosphate Experimental Pharma 0
genes like me logo Genes that share compounds with GFPT2: view

Transcripts for GFPT2 Gene

mRNA/cDNA for GFPT2 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GFPT2

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

Expression for GFPT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for GFPT2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.5)
  • Liver(3)
  • Nervous system(2.8)
  • Intestine(2.6)
  • Heart(2.6)
  • Pancreas(2.4)
  • Muscle(2.3)
  • Skin(2.1)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with GFPT2: view

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 29 30
  • 98.04 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 95 (a)
OneToMany
-- 30
  • 87 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia GFPT2 30
  • 95 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia GFPT2 29 30
  • 91.98 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GFPT2 29 30
  • 90.86 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gfpt2 29 16 30
  • 89.39 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gfpt2 29
  • 89.3 (n)
Chicken
(Gallus gallus)
Aves GFPT2 29 30
  • 79.03 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GFPT2 30
  • 85 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii gfpt2 29 30
  • 73.73 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12662 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011352 29
  • 65.67 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Gfat2 29 30 31
  • 65.44 (n)
ManyToMany
Gfat1 30 31
  • 64 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea F07A11.2 29 30
  • 60.47 (n)
ManyToMany
F07A11.2b 31
  • 58 (a)
F22B3.4 30 31
  • 57 (a)
ManyToMany
F07A11.2a 31
  • 57 (a)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ABL036C 29
  • 60.36 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F13596g 29
  • 56.28 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GFA1 29 30 32
  • 55.44 (n)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT3G24090 29
  • 54.74 (n)
Rice
(Oryza sativa)
Liliopsida Os12g0131100 29
  • 58.91 (n)
Corn
(Zea mays)
Liliopsida Zm.11907 29
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 65 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU11350 29
  • 59.29 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC12C2.11 29
  • 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GFPT2: view image
Alliance of Genome Resources:
Additional Orthologs for GFPT2

Paralogs for GFPT2 Gene

Paralogs for GFPT2 Gene

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

  • GFPT2_HUMAN
  • D6RAC1_HUMAN
  • E5RJP4_HUMAN
genes like me logo Genes that share paralogs with GFPT2: view

Variants for GFPT2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GFPT2 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs35765078 Benign: not provided 180,318,854(-) G/A
NM_005110.4(GFPT2):c.897C>T (p.Ala299=)
SYNONYMOUS
rs371527867 Likely Benign: not provided 180,302,555(-) G/A
NM_005110.4(GFPT2):c.1872C>T (p.Asp624=)
SYNONYMOUS
rs2303007 -- p.Ile471Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GFPT2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for GFPT2 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for GFPT2 Gene

Additional Disease Information for GFPT2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for GFPT2 Gene.

No data available for MalaCards , 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
  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 40
  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 40
  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
  5. PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to Modulate Wnt and Planar Cell Polarity Signaling. (PMID: 31091453) Shami Shah A … Baskin JM (Cell reports 2019) 3

Products for GFPT2 Gene

Sources for GFPT2 Gene