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    FANCG Fanconi anemia complementation group G [ Homo sapiens (human) ]

    Gene ID: 2189, updated on 5-Nov-2017
    Official Symbol
    FANCGprovided by HGNC
    Official Full Name
    Fanconi anemia complementation group Gprovided by HGNC
    Primary source
    HGNC:HGNC:3588
    See related
    Ensembl:ENSG00000221829 MIM:602956; Vega:OTTHUMG00000019850
    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
    FAG; XRCC9
    Summary
    The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group G. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    9p13.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 9 NC_000009.12 (35073838..35080016, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (35073833..35080043, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 338, pseudogene Neighboring gene valosin containing protein Neighboring gene phosphatidylinositol glycan anchor biosynthesis class O Neighboring gene stomatin like 2

    • 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?

    • BARD1 signaling events, organism-specific biosystem (from Pathway Interaction Database)
      BARD1 signaling events, organism-specific biosystem
      BARD1 signaling events
    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
    • FA core complex, organism-specific biosystem (from KEGG)
      FA core complex, organism-specific biosystemStructural complex; Genetic information processing; Repair system
    • FA core complex, conserved biosystem (from KEGG)
      FA core complex, conserved biosystemStructural complex; Genetic information processing; Repair system
    • Fanconi Anemia Pathway, organism-specific biosystem (from REACTOME)
      Fanconi Anemia Pathway, organism-specific biosystemFanconi anemia (FA) is a genetic disease of genome instability characterized by congenital skeletal defects, aplastic anemia, susceptibility to leukemias, and cellular sensitivity to DNA damaging age...
    • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
      Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
    • Fanconi anemia pathway, conserved biosystem (from KEGG)
      Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
    • Retinoblastoma (RB) in Cancer, organism-specific biosystem (from WikiPathways)
      Retinoblastoma (RB) in Cancer, organism-specific biosystemDescribes the role of retinoblastoma (RB) gene in cancer.
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Potential readthrough

    Included gene: VCP

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    damaged DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA repair TAS
    Traceable Author Statement
    more info
    PubMed 
    cell cycle checkpoint TAS
    Traceable Author Statement
    more info
    PubMed 
    interstrand cross-link repair TAS
    Traceable Author Statement
    more info
     
    mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ovarian follicle development IEA
    Inferred from Electronic Annotation
    more info
     
    response to radiation IEA
    Inferred from Electronic Annotation
    more info
     
    spermatid development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Fanconi anaemia nuclear complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleolus IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    Fanconi anemia group G protein
    Names
    DNA repair protein XRCC9
    X-ray repair complementing defective repair in Chinese hamster cells 9
    X-ray repair, complementing defective, in Chinese hamster, 9
    truncated Fanconi anemia group G protein

    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.

    Genomic

    1. NG_007312.1 RefSeqGene

      Range
      5001..11179
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_499

    mRNA and Protein(s)

    1. NM_004629.1NP_004620.1  Fanconi anemia group G protein

      See identical proteins and their annotated locations for NP_004620.1

      Status: REVIEWED

      Source sequence(s)
      AJ007669
      Consensus CDS
      CCDS6574.1
      UniProtKB/Swiss-Prot
      O15287
      UniProtKB/TrEMBL
      Q53XM5
      Related
      ENSP00000367910.3, OTTHUMP00000021319, ENST00000378643.7, OTTHUMT00000052269
      Conserved Domains (1) summary
      sd00006
      Location:213237
      TPR; TPR repeat [structural motif]

    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_000009.12 Reference GRCh38.p7 Primary Assembly

      Range
      35073838..35080016 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

      Range
      35073701..35079879 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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