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    GNPDA2 glucosamine-6-phosphate deaminase 2 [ Homo sapiens (human) ]

    Gene ID: 132789, updated on 12-Mar-2017
    Official Symbol
    GNPDA2provided by HGNC
    Official Full Name
    glucosamine-6-phosphate deaminase 2provided by HGNC
    Primary source
    HGNC:HGNC:21526
    See related
    Ensembl:ENSG00000163281 MIM:613222; Vega:OTTHUMG00000099415
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GNP2; SB52
    Summary
    The protein encoded by this gene is an allosteric enzyme that catalyzes the reversible reaction converting D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium. Variations of this gene have been reported to be associated with influencing body mass index and susceptibility to obesity. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]
    Orthologs
    Location:
    4p12
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (44701795..44726634, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (44694190..44728651, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene Yip1 domain family member 7 Neighboring gene GUF1 homolog, GTPase Neighboring gene uncharacterized LOC105374439 Neighboring gene uncharacterized LOC105374440 Neighboring gene tubulin alpha 4a pseudogene

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry.
    NHGRI GWA Catalog
    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
    NHGRI GWA Catalog
    Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
    NHGRI GWA Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    NHGRI GWA Catalog
    Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    glucosamine-6-phosphate deaminase activity TAS
    Traceable Author Statement
    more info
     
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    N-acetylglucosamine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    glucose metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    glucosamine-6-phosphate isomerase 2
    Names
    glcN6P deaminase 2
    glucosamine-6-phosphate isomerase SB52
    NP_001257809.1
    NP_001257810.1
    NP_612208.1

    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_001270880.1NP_001257809.1  glucosamine-6-phosphate isomerase 2 isoform 2

      See identical proteins and their annotated locations for NP_001257809.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the coding region compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.
      Source sequence(s)
      AF247786, AY173948, BP274548, BQ021991
      Consensus CDS
      CCDS59473.1
      UniProtKB/Swiss-Prot
      Q8TDQ7
      Related
      ENSP00000425868, OTTHUMP00000218298, ENST00000507917, OTTHUMT00000360776
      Conserved Domains (1) summary
      cl00339
      Location:1219
      SugarP_isomerase; SugarP_isomerase: Sugar Phosphate Isomerase family; includes type A ribose 5-phosphate isomerase (RPI_A), glucosamine-6-phosphate (GlcN6P) deaminase, and 6-phosphogluconolactonase (6PGL). RPI catalyzes the reversible conversion of ribose-5-phosphate to ...
    2. NM_001270881.1NP_001257810.1  glucosamine-6-phosphate isomerase 2 isoform 3

      See identical proteins and their annotated locations for NP_001257810.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the 5' UTR and uses a downstream start codon compared to variant 1. It encodes isoform 3 which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AF247786, AK296051, BP274548, BQ021991
      Consensus CDS
      CCDS59472.1
      UniProtKB/Swiss-Prot
      Q8TDQ7
      Related
      ENSP00000427423, OTTHUMP00000219325, ENST00000507534, OTTHUMT00000360779
      Conserved Domains (1) summary
      cl00339
      Location:1183
      SugarP_isomerase; SugarP_isomerase: Sugar Phosphate Isomerase family; includes type A ribose 5-phosphate isomerase (RPI_A), glucosamine-6-phosphate (GlcN6P) deaminase, and 6-phosphogluconolactonase (6PGL). RPI catalyzes the reversible conversion of ribose-5-phosphate to ...
    3. NM_138335.2NP_612208.1  glucosamine-6-phosphate isomerase 2 isoform 1

      See identical proteins and their annotated locations for NP_612208.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF247786, BP274548, BQ021991
      Consensus CDS
      CCDS3469.1
      UniProtKB/Swiss-Prot
      Q8TDQ7
      UniProtKB/TrEMBL
      A0A024R9X5
      Related
      ENSP00000295448, OTTHUMP00000125263, ENST00000295448, OTTHUMT00000216874
      Conserved Domains (1) summary
      cl00339
      Location:1253
      SugarP_isomerase; SugarP_isomerase: Sugar Phosphate Isomerase family; includes type A ribose 5-phosphate isomerase (RPI_A), glucosamine-6-phosphate (GlcN6P) deaminase, and 6-phosphogluconolactonase (6PGL). RPI catalyzes the reversible conversion of ribose-5-phosphate to ...

    RNA

    1. NR_073094.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks the first coding (AUG) exon and uses an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF247786, BP274548, BQ021991, HY180477
    2. NR_073095.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks three alternate in-frame exons in the 5' UTR compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.
      Source sequence(s)
      AF247786, BP274548, BQ021991, HY163015

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      44701795..44726634 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      44702923..44727736 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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