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

Gene ID: 9945, updated on 21-Aug-2019

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

Genomic context

See GFPT2 in Genome Data Viewer
Location:
5q35.3
Exon count:
19
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (180300698..180353336, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (179727698..179780341, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein S8 pseudogene 7 Neighboring gene zinc finger protein 670 pseudogene Neighboring gene mitogen-activated protein kinase 9 Neighboring gene Sharpr-MPRA regulatory region 4162 Neighboring gene RNA, U6 small nuclear 525, pseudogene Neighboring gene uncharacterized LOC102725231

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

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10380

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carbohydrate derivative binding IEA
Inferred from Electronic Annotation
more info
 
glutamine-fructose-6-phosphate transaminase (isomerizing) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
UDP-N-acetylglucosamine biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
UDP-N-acetylglucosamine biosynthetic process TAS
Traceable Author Statement
more info
 
UDP-N-acetylglucosamine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to leukemia inhibitory factor IEA
Inferred from Electronic Annotation
more info
 
energy reserve metabolic process TAS
Traceable Author Statement
more info
PubMed 
fructose 6-phosphate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glutamine metabolic process IEA
Inferred from Electronic Annotation
more info
 
protein N-linked glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
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)

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
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

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