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    GFOD2 Gfo/Idh/MocA-like oxidoreductase domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 81577, updated on 28-Oct-2024

    Summary

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    Official Symbol
    GFOD2provided by HGNC
    Official Full Name
    Gfo/Idh/MocA-like oxidoreductase domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:28159
    See related
    Ensembl:ENSG00000141098 MIM:619933; AllianceGenome:HGNC:28159
    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
    Summary
    Predicted to enable nucleotide binding activity and oxidoreductase activity. Predicted to be involved in extracellular matrix organization. Predicted to be located in extracellular region. Predicted to be active in extracellular matrix. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in esophagus (RPKM 4.4), brain (RPKM 4.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GFOD2 in Genome Data Viewer
    Location:
    16q22.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (67674536..67719316, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (73469304..73514085, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (67708439..67753219, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7619 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7620 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7621 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7622 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10979 Neighboring gene chromosome 16 open reading frame 86 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67710969-67711925 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67711926-67712881 Neighboring gene enkurin domain containing 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:67717419-67718618 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10980 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr16:67743233-67744011 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67744012-67744789 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10981 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7623 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7624 Neighboring gene RAN binding protein 10 Neighboring gene Sharpr-MPRA regulatory region 12647 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10982 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10983 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10984 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:67839586-67840206 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:67840207-67840826 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7626 Neighboring gene translin associated factor X interacting protein 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:67851021-67851203 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67859393-67860253

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. Effect of a GFOD2 variant on responses in total and LDL cholesterol in Mexican subjects with hypercholesterolemia after soy protein and soluble fiber supplementation. Guevara-Cruz M, et al. Gene, 2013 Dec 15. PMID 24064143
    2. Genetic variants influencing circulating lipid levels and risk of coronary artery disease. Waterworth DM, et al. Arterioscler Thromb Vasc Biol, 2010 Nov. PMID 20864672, Free PMC Article
    3. Biological insights from 108 schizophrenia-associated genetic loci. Schizophrenia Working Group of the Psychiatric Genomics Consortium. Nature, 2014 Jul 24. PMID 25056061, Free PMC Article
    4. A Multipronged Unbiased Strategy Guides the Development of an Anti-EGFR/EPHA2-Bispecific Antibody for Combination Cancer Therapy. El Zawily A, et al. Clin Cancer Res, 2023 Jul 14. PMID 36976175, Free PMC Article
    5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Variation in the GFOD2 gene contributes to the genetic basis for a differential response to a cholesterol- or lipid-lowering diet.
      Title: Effect of a GFOD2 variant on responses in total and LDL cholesterol in Mexican subjects with hypercholesterolemia after soy protein and soluble fiber supplementation.
    Submit: New GeneRIF Correction

    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
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ23802, FLJ39316, MGC11335

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    glucose-fructose oxidoreductase domain-containing protein 2
    Names
    glucose-fructose oxidoreductase domain containing 2

    NCBI Reference Sequences (RefSeq)

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    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_001243650.2 → NP_001230579.1  glucose-fructose oxidoreductase domain-containing protein 2 isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has an unspliced coding region and differs in the 3' UTR, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC010530, AK096635, BQ003788, BQ437486, DC368734, DC381447
      Consensus CDS
      CCDS59268.1
      UniProtKB/Swiss-Prot
      Q3B7J2
      Related
      ENSP00000478260.1, ENST00000602279.2
      Conserved Domains (1) summary
      cl21454
      Location:7 → 86
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    2. NM_030819.4 → NP_110446.3  glucose-fructose oxidoreductase domain-containing protein 2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_110446.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AK225997, BC000757
      Consensus CDS
      CCDS10845.1
      UniProtKB/Swiss-Prot
      Q3B7J2, Q69YL9, Q6UXX6, Q7L648, Q8TE86, Q9BQ07, R4GNG5
      Related
      ENSP00000268797.7, ENST00000268797.12
      Conserved Domains (1) summary
      COG0673
      Location:1 → 364
      MviM; Predicted dehydrogenase [General function prediction only]

    RNA

    1. NR_027398.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding due to the presence of multiple upstream ORFs that are predicted to interfere with translation of the longest ORF; translation of these upstream ORFs renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC000757

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      67674536..67719316 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434723.1 → XP_047290679.1  glucose-fructose oxidoreductase domain-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q3B7J2, Q69YL9, Q6UXX6, Q7L648, Q8TE86, Q9BQ07, R4GNG5

    2. XM_047434724.1 → XP_047290680.1  glucose-fructose oxidoreductase domain-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q3B7J2, Q69YL9, Q6UXX6, Q7L648, Q8TE86, Q9BQ07, R4GNG5

    3. XM_006721288.5 → XP_006721351.1  glucose-fructose oxidoreductase domain-containing protein 2 isoform X2

      See identical proteins and their annotated locations for XP_006721351.1

      UniProtKB/TrEMBL
      B3KRH8
      Conserved Domains (1) summary
      COG0673
      Location:15 → 259
      MviM; Predicted dehydrogenase [General function prediction only]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      73469304..73514085 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314059.1 → XP_054170034.1  glucose-fructose oxidoreductase domain-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q3B7J2, Q69YL9, Q6UXX6, Q7L648, Q8TE86, Q9BQ07, R4GNG5

    2. XM_054314060.1 → XP_054170035.1  glucose-fructose oxidoreductase domain-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q3B7J2, Q69YL9, Q6UXX6, Q7L648, Q8TE86, Q9BQ07, R4GNG5

    3. XM_054314061.1 → XP_054170036.1  glucose-fructose oxidoreductase domain-containing protein 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3B7J2.1 GenPept UniProtKB/Swiss-Prot:Q3B7J2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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