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

Gene ID: 9945, updated on 27-Nov-2024

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, Nov 2024]
Expression
Broad expression in appendix (RPKM 10.6), gall bladder (RPKM 9.6) and 23 other tissues See more
Orthologs
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Genomic context

See GFPT2 in Genome Data Viewer
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_000005.10Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase 9 Neighboring gene zinc finger protein 670 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16762 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16763 Neighboring gene uncharacterized LOC124901151 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:179719561-179720203 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:179726045-179726545 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:179732911-179733425 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:179733426-179733939 Neighboring gene Sharpr-MPRA regulatory region 4162 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:179750129-179750814 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:179755849-179756838 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:179756839-179757826 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:179758817-179759804 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:179760793-179761780 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:179763140-179763684 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:179763685-179764228 Neighboring gene Sharpr-MPRA regulatory region 8548 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:179770451-179771368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:179778490-179778990 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16765 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:179797271-179797772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:179850841-179851340 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:179868388-179869587 Neighboring gene uncharacterized LOC124901152 Neighboring gene RNA, U6 small nuclear 525, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ10380

Gene Ontology Provided by GOA

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

General protein information

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

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)

  1. NM_005110.4NP_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:1682
    PLN02981; glucosamine:fructose-6-phosphate aminotransferase
    cd00714
    Location:2285
    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:369494
    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:526680
    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 ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    180300698..180353336 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    180856156..180908788 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)