GFPT2 glutamine-fructose-6-phosphate transaminase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GFPT2provided by HGNC
Official Full Name: glutamine-fructose-6-phosphate transaminase 2provided by HGNC
Primary source: HGNC:HGNC:4242
See related: Ensembl:ENSG00000131459 MIM:603865; AllianceGenome:HGNC:4242
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GFAT; GFAT2; GFAT 2
Summary: Enables glutamine-fructose-6-phosphate transaminase (isomerizing) activity. Involved in UDP-N-acetylglucosamine biosynthetic process and fructose 6-phosphate metabolic process. Predicted to be located in cytosol. Implicated in type 2 diabetes mellitus. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in appendix (RPKM 10.6), gall bladder (RPKM 9.6) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q35.3

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (180300698..180353336, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (180856156..180908788, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (179727698..179780336, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GFPT2: A novel biomarker in mesothelioma for diagnosis and prognosis and its molecular mechanism in malignant progression.
Title: GFPT2: A novel biomarker in mesothelioma for diagnosis and prognosis and its molecular mechanism in malignant progression.
VCAM-1 and GFPT-2: Predictive markers of osteoblast differentiation in human dental pulp stem cells.
Title: VCAM-1 and GFPT-2: Predictive markers of osteoblast differentiation in human dental pulp stem cells.
Glutamine-Fructose-6-Phosphate Transaminase 2 (GFPT2) Is Upregulated in Breast Epithelial-Mesenchymal Transition and Responds to Oxidative Stress.
Title: Glutamine-Fructose-6-Phosphate Transaminase 2 (GFPT2) Is Upregulated in Breast Epithelial-Mesenchymal Transition and Responds to Oxidative Stress.
Cardiomyocyte protein O-GlcNAcylation is regulated by GFAT1 not GFAT2.
Title: Cardiomyocyte protein O-GlcNAcylation is regulated by GFAT1 not GFAT2.
Stomatinlike protein 2 induces metastasis by regulating the expression of a ratelimiting enzyme of the hexosamine biosynthetic pathway in pancreatic cancer.
Title: Stomatin‑like protein 2 induces metastasis by regulating the expression of a rate‑limiting enzyme of the hexosamine biosynthetic pathway in pancreatic cancer.
Enzymatic and structural properties of human glutamine:fructose-6-phosphate amidotransferase 2 (hGFAT2).
Title: Enzymatic and structural properties of human glutamine:fructose-6-phosphate amidotransferase 2 (hGFAT2).
Glutamine-fructose-6-phosphate transaminase 2 (GFPT2) activates the hexosamine biosynthetic pathway to increase the nuclear location of beta-catenin and promote epithelial-mesenchymal transformation of serous ovarian cancer.
Title: Glutamine-fructose-6-phosphate transaminase 2 (GFPT2) promotes the EMT of serous ovarian cancer by activating the hexosamine biosynthetic pathway to increase the nuclear location of β-catenin.
Elevated GFPT2 expression correlates with poor clinical outcome in non-small cell lung cancer.
Title: NF-κB upregulates glutamine-fructose-6-phosphate transaminase 2 to promote migration in non-small cell lung cancer.
Transcriptome analysis of human primary non-small cell lung cancer specimens showed that glucose uptake associated with GFPT2-expressing cancer-associated fibroblasts was prognostic for adenocarcinoma. GFPT2 was predictive of glucose uptake independent of GLUT1, the primary glucose transporter, and was prognostically significant at both gene and protein level.
Title: GFPT2-Expressing Cancer-Associated Fibroblasts Mediate Metabolic Reprogramming in Human Lung Adenocarcinoma.
Homozygosity of the GFPT2 p.Arg366Gln mutation was associated with increased levels of reactive oxygen species (ROS) in spermatozoa and decreased sperm motility.
Title: Identification of a homozygous GFPT2 variant in a family with asthenozoospermia.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH78425 (e-PCR)
- UniSTS:14654

SHGC-146797 (e-PCR)
- UniSTS:175437

SHGC-148059 (e-PCR)
- UniSTS:172922

SHGC-148282 (e-PCR)
- UniSTS:172972

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables carbohydrate derivative binding	IEA Inferred from Electronic Annotation more info
enables glutamine-fructose-6-phosphate transaminase (isomerizing) activity	IBA Inferred from Biological aspect of Ancestor more info
enables glutamine-fructose-6-phosphate transaminase (isomerizing) activity	IDA Inferred from Direct Assay more info	PubMed
enables glutamine-fructose-6-phosphate transaminase (isomerizing) activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in UDP-N-acetylglucosamine biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in UDP-N-acetylglucosamine biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in UDP-N-acetylglucosamine biosynthetic process	TAS Traceable Author Statement more info
involved_in UDP-N-acetylglucosamine metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to leukemia inhibitory factor	IEA Inferred from Electronic Annotation more info
involved_in energy reserve metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in fructose 6-phosphate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in fructose 6-phosphate metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein N-linked glycosylation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2

Names: D-fructose-6-phosphate amidotransferase 2; glucosamine--fructose-6-phosphate aminotransferase [isomerizing] 2; glutamine: fructose-6-phosphate aminotransferase 2; glutamine:fructose-6-phosphate amidotransferase 2; hexosephosphate aminotransferase 2

NP_005101.1

EC 2.6.1.16

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_005110.4 → NP_005101.1 glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2

See identical proteins and their annotated locations for NP_005101.1

Status: VALIDATED

Source sequence(s)

AB016789, AK022507, BC000012, BI753491

Consensus CDS

CCDS43411.1

UniProtKB/Swiss-Prot

O94808, Q53XM2, Q9BWS4

UniProtKB/TrEMBL

A0A0S2Z4X9, B3KMR8

Related

ENSP00000253778.8, ENST00000253778.13

Conserved Domains (4) summary

PLN02981
Location:1 → 682

PLN02981; glucosamine:fructose-6-phosphate aminotransferase

cd00714
Location:2 → 285

GFAT; Glutamine amidotransferases class-II (Gn-AT)_GFAT-type. This domain is found at the N-terminus of glucosamine-6P synthase (GlmS, or GFAT in humans). The glutaminase domain catalyzes amide nitrogen transfer from glutamine to the appropriate substrate. In ...

cd05008
Location:369 → 494

SIS_GlmS_GlmD_1; SIS (Sugar ISomerase) domain repeat 1 found in Glucosamine 6-phosphate synthase (GlmS) and Glucosamine-6-phosphate deaminase (GlmD). The SIS domain is found in many phosphosugar isomerases and phosphosugar binding proteins. GlmS contains a N-terminal ...

cd05009
Location:526 → 680

SIS_GlmS_GlmD_2; SIS (Sugar ISomerase) domain repeat 2 found in Glucosamine 6-phosphate synthase (GlmS) and Glucosamine-6-phosphate deaminase (GlmD). The SIS domain is found in many phosphosugar isomerases and phosphosugar binding proteins. GlmS contains a N-terminal ...