Human Gene GFPT2 (ENST00000253778.13_7) from GENCODE V47lift37
  Description: glutamine-fructose-6-phosphate transaminase 2 (from RefSeq NM_005110.4)
Gencode Transcript: ENST00000253778.13_7
Gencode Gene: ENSG00000131459.13_10
Transcript (Including UTRs)
   Position: hg19 chr5:179,727,698-179,780,336 Size: 52,639 Total Exon Count: 19 Strand: -
Coding Region
   Position: hg19 chr5:179,728,564-179,780,217 Size: 51,654 Coding Exon Count: 19 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:179,727,698-179,780,336)mRNA (may differ from genome)Protein (682 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GFPT2_HUMAN
DESCRIPTION: RecName: Full=Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2; EC=2.6.1.16; AltName: Full=D-fructose-6-phosphate amidotransferase 2; AltName: Full=Glutamine:fructose-6-phosphate amidotransferase 2; Short=GFAT 2; Short=GFAT2; AltName: Full=Hexosephosphate aminotransferase 2;
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.
CATALYTIC ACTIVITY: L-glutamine + D-fructose 6-phosphate = L- glutamate + D-glucosamine 6-phosphate.
PATHWAY: Nucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D- glucosamine biosynthesis; alpha-D-glucosamine 6-phosphate from D- fructose 6-phosphate: step 1/1.
TISSUE SPECIFICITY: Highest levels of expression in heart, placenta, and spinal cord.
SIMILARITY: Contains 1 glutamine amidotransferase type-2 domain.
SIMILARITY: Contains 2 SIS domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GFPT2
Diseases sorted by gene-association score: pancreatic steatorrhea (16), lipodystrophy, familial partial, type 2 (7), angular cheilitis (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 43.73 RPKM in Adipose - Visceral (Omentum)
Total median expression: 414.85 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -43.10119-0.362 Picture PostScript Text
3' UTR -219.00866-0.253 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017932 - GATase_2_dom
IPR000583 - GATase_dom
IPR005855 - GlmS_trans
IPR001347 - SIS

Pfam Domains:
PF01380 - SIS domain
PF13230 - Glutamine amidotransferases class-II
PF13522 - Glutamine amidotransferase domain
PF13537 - Glutamine amidotransferase domain

SCOP Domains:
53335 - S-adenosyl-L-methionine-dependent methyltransferases
53697 - SIS domain
56235 - N-terminal nucleophile aminohydrolases (Ntn hydrolases)

ModBase Predicted Comparative 3D Structure on O94808
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details Gene Details Gene Details
Gene SorterGene Sorter Gene Sorter Gene Sorter
 RGD   SGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004360 glutamine-fructose-6-phosphate transaminase (isomerizing) activity
GO:0005515 protein binding
GO:0008483 transaminase activity
GO:0016740 transferase activity
GO:0097367 carbohydrate derivative binding

Biological Process:
GO:0006002 fructose 6-phosphate metabolic process
GO:0006047 UDP-N-acetylglucosamine metabolic process
GO:0006048 UDP-N-acetylglucosamine biosynthetic process
GO:0006112 energy reserve metabolic process
GO:0006487 protein N-linked glycosylation
GO:0006541 glutamine metabolic process
GO:1901135 carbohydrate derivative metabolic process
GO:1901137 carbohydrate derivative biosynthetic process
GO:1990830 cellular response to leukemia inhibitory factor

Cellular Component:
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  BC000012 - Homo sapiens glutamine-fructose-6-phosphate transaminase 2, mRNA (cDNA clone MGC:1837 IMAGE:3506723), complete cds.
AK001242 - Homo sapiens cDNA FLJ10380 fis, clone NT2RM2002030, highly similar to Glucosamine--fructose-6-phosphateaminotransferase (isomerizing) 2 (EC 2.6.1.16).
AK022507 - Homo sapiens cDNA FLJ12445 fis, clone NT2RM1000256, highly similar to Glucosamine--fructose-6-phosphateaminotransferase (isomerizing) 2 (EC 2.6.1.16).
AB016789 - Homo sapiens mRNA for Glutamine:fructose-6-phosphate amidotransferase, complete cds.
JD347152 - Sequence 328176 from Patent EP1572962.
JD188474 - Sequence 169498 from Patent EP1572962.
JD154589 - Sequence 135613 from Patent EP1572962.
JD052366 - Sequence 33390 from Patent EP1572962.
JD233179 - Sequence 214203 from Patent EP1572962.
JD146235 - Sequence 127259 from Patent EP1572962.
JD539979 - Sequence 521003 from Patent EP1572962.
JD192525 - Sequence 173549 from Patent EP1572962.
JD067452 - Sequence 48476 from Patent EP1572962.
JD119528 - Sequence 100552 from Patent EP1572962.
JD050701 - Sequence 31725 from Patent EP1572962.
JD045310 - Sequence 26334 from Patent EP1572962.
AK297750 - Homo sapiens cDNA FLJ56595 complete cds, highly similar to Glucosamine--fructose-6-phosphateaminotransferase (isomerizing) 2 (EC 2.6.1.16).
JD289558 - Sequence 270582 from Patent EP1572962.
JD196494 - Sequence 177518 from Patent EP1572962.
JD062878 - Sequence 43902 from Patent EP1572962.
AK314551 - Homo sapiens cDNA, FLJ95375, highly similar to Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.
KJ898121 - Synthetic construct Homo sapiens clone ccsbBroadEn_07515 GFPT2 gene, encodes complete protein.
BT009818 - Homo sapiens glutamine-fructose-6-phosphate transaminase 2 mRNA, complete cds.
DQ892176 - Synthetic construct clone IMAGE:100004806; FLH183711.01X; RZPDo839F09142D glutamine-fructose-6-phosphate transaminase 2 (GFPT2) gene, encodes complete protein.
DQ895371 - Synthetic construct Homo sapiens clone IMAGE:100009831; FLH183707.01L; RZPDo839F09141D glutamine-fructose-6-phosphate transaminase 2 (GFPT2) gene, encodes complete protein.
KU178494 - Homo sapiens glutamine-fructose-6-phosphate transaminase 2 isoform 1 (GFPT2) mRNA, partial cds.
KU178495 - Homo sapiens glutamine-fructose-6-phosphate transaminase 2 isoform 2 (GFPT2) mRNA, partial cds, alternatively spliced.
DQ587920 - Homo sapiens piRNA piR-55032, complete sequence.
CU673990 - Synthetic construct Homo sapiens gateway clone IMAGE:100020010 5' read GFPT2 mRNA.
JD404416 - Sequence 385440 from Patent EP1572962.
JD057595 - Sequence 38619 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
UDPNACETYLGALSYN-PWY - UDP-N-acetyl-D-glucosamine biosynthesis II

Reactome (by CSHL, EBI, and GO)

Protein O94808 (Reactome details) participates in the following event(s):

R-HSA-449715 GFPT1,2 transfer an amino group from L-Gln to F6P to form GlcN6P
R-HSA-446210 Synthesis of UDP-N-acetyl-glucosamine
R-HSA-446219 Synthesis of substrates in N-glycan biosythesis
R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000253778.1, ENST00000253778.10, ENST00000253778.11, ENST00000253778.12, ENST00000253778.2, ENST00000253778.3, ENST00000253778.4, ENST00000253778.5, ENST00000253778.6, ENST00000253778.7, ENST00000253778.8, ENST00000253778.9, GFPT2_HUMAN, NM_005110, O94808, Q53XM2, Q9BWS4, uc317fme.1, uc317fme.2
UCSC ID: ENST00000253778.13_7
RefSeq Accession: NM_005110.4
Protein: O94808 (aka GFPT2_HUMAN or GFA2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.