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    FANCG FA complementation group G [ Homo sapiens (human) ]

    Gene ID: 2189, updated on 8-Jul-2021

    Summary

    Official Symbol
    FANCGprovided by HGNC
    Official Full Name
    FA complementation group Gprovided by HGNC
    Primary source
    HGNC:HGNC:3588
    See related
    Ensembl:ENSG00000221829 MIM:602956
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 5.8), testis (RPKM 5.2) and 25 other tissues See more
    Orthologs
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    Genomic context

    See FANCG in Genome Data Viewer
    Location:
    9p13.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (35073839..35079942, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (35073836..35079939, 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

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: VCP

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables damaged DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA repair TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to DNA damage stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in interstrand cross-link repair IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ovarian follicle development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to radiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spermatid development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of Fanconi anaemia nuclear complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of Fanconi anaemia nuclear complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    Fanconi anemia group G protein
    Names
    DNA repair protein XRCC9
    Fanconi anemia complementation group G
    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

    NCBI Reference Sequences (RefSeq)

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    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_004629.2NP_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
      ENSP00000367910.4, ENST00000378643.8
      Conserved Domains (1) summary
      sd00006
      Location:213237
      TPR; TPR repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

      Range
      35073839..35079942 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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