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

Gene ID: 2189, updated on 11-Sep-2014
Official Symbol
FANCGprovided by HGNC
Official Full Name
Fanconi anemia, complementation group Gprovided by HGNC
Primary source
HGNC:HGNC:3588
See related
Ensembl:ENSG00000221829; HPRD:04262; 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]
See FANCG in Epigenomics, MapViewer
Location:
9p13
Exon count:
14
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 chromosome 9 open reading frame 131 Neighboring gene valosin containing protein Neighboring gene phosphatidylinositol glycan anchor biosynthesis, class O Neighboring gene stomatin (EPB72)-like 2

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
  • Cellular response to heat stress, organism-specific biosystem (from REACTOME)
    Cellular response to heat stress, organism-specific biosystemIn response to exposure to elevated temperature and certain other proteotoxic stimuli (e.g., hypoxia, free radicals) cells activate a number of cytoprotective mechanisms known collectively as "heat s...
  • Cellular responses to stress, organism-specific biosystem (from REACTOME)
    Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
  • 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. These cellular mechanisms that must cope with the plethora of DNA base pair ad...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • 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...
  • HSF1 activation, organism-specific biosystem (from REACTOME)
    HSF1 activation, organism-specific biosystemHeat shock factor 1 (HSF1) is a transcription factor that activates gene expression in response to a variety of stresses, including heat shock, oxidative stress, as well as inflammation and infection...
  • Hedgehog ligand biogenesis, organism-specific biosystem (from REACTOME)
    Hedgehog ligand biogenesis, organism-specific biosystemMammalian genomes encode three Hedgehog ligands, Sonic Hedgehog (SHH), Indian Hedgehog (IHH) and Desert Hedgehog (DHH). These secreted morphogens can remain associated with lipid rafts on the surfac...
  • Hh ligand biogenesis disease, organism-specific biosystem (from REACTOME)
    Hh ligand biogenesis disease, organism-specific biosystemHh signaling is required for a number of developmental processes, and mutations that disrupt the normal processing and biogenesis of Hh ligand can result in neonatal abnormalities. SHH is one of a n...
  • Processing-defective Hh variants abrogate ligand secretion, organism-specific biosystem (from REACTOME)
    Processing-defective Hh variants abrogate ligand secretion, organism-specific biosystemHh signaling is required for a number of developmental processes, and mutations that disrupt the normal processing and biogenesis of Hh ligand can result in neonatal abnormalities. SHH is one of a n...
  • RB in Cancer, organism-specific biosystem (from WikiPathways)
    RB in Cancer, organism-specific biosystem
    RB in Cancer
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Hedgehog, organism-specific biosystem (from REACTOME)
    Signaling by Hedgehog, organism-specific biosystemHedgehog (Hh) is a secreted morphogen that regulates developmental processes in vertebrates including limb bud formation, neural tube patterning, cell growth and differentiation (reviewed in Hui and ...
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
 
cell cycle checkpoint TAS
Traceable Author Statement
more info
PubMed 
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
 
cytoplasm 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
Fanconi anemia group G protein
DNA repair protein XRCC9
X-ray repair, complementing defective, in Chinese hamster, 9
X-ray repair complementing defective repair in Chinese hamster cells 9

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 

    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 proteins identical to NP_004620.1

    Status: REVIEWED

    Source sequence(s)
    AJ007669
    Consensus CDS
    CCDS6574.1
    UniProtKB/Swiss-Prot
    O15287
    UniProtKB/TrEMBL
    Q53XM5
    Related
    ENSP00000367910, OTTHUMP00000021319, ENST00000378643, OTTHUMT00000052269

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000009.12 

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

Alternate HuRef

Genomic

  1. AC_000141.1 

    Range
    35029423..35035601
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 

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