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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
    NEW
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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)

    NEW Try the new Transcript table

    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)