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 instab... See more...

Aliases for FANCG Gene

Aliases for FANCG Gene

  • FA Complementation Group G 2 3 5
  • DNA Repair Protein XRCC9 2 3 4
  • X-Ray Repair Complementing Defective Repair In Chinese Hamster Cells 9 2 3
  • X-Ray Repair, Complementing Defective, In Chinese Hamster, 9 2 3
  • Fanconi Anemia Complementation Group G 2 3
  • Fanconi Anemia Group G Protein 3 4
  • XRCC9 3 4
  • FAG 2 3
  • Truncated Fanconi Anemia Group G Protein 3
  • Protein FACG 4
  • FANCG 5

External Ids for FANCG Gene

Previous HGNC Symbols for FANCG Gene

  • XRCC9

Previous GeneCards Identifiers for FANCG Gene

  • GC09M035386
  • GC09M035243
  • GC09M035063
  • GC09M035030

Summaries for FANCG Gene

Entrez Gene Summary for FANCG Gene

  • 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]

GeneCards Summary for FANCG Gene

FANCG (FA Complementation Group G) is a Protein Coding gene. Diseases associated with FANCG include Fanconi Anemia, Complementation Group G and Fanconi Anemia, Complementation Group A. Among its related pathways are DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity and damaged DNA binding.

UniProtKB/Swiss-Prot Summary for FANCG Gene

  • DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Candidate tumor suppressor gene.

Gene Wiki entry for FANCG Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FANCG Gene

Genomics for FANCG Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FANCG Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FANCG on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FANCG

Top Transcription factor binding sites by QIAGEN in the FANCG gene promoter:
  • CREB
  • deltaCREB
  • GATA-1
  • NF-kappaB1
  • Pax-5
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • RREB-1
  • STAT3

Genomic Locations for FANCG Gene

Latest Assembly
chr9:35,073,835-35,079,942
(GRCh38/hg38)
Size:
6,108 bases
Orientation:
Minus strand

Previous Assembly
chr9:35,073,836-35,079,939
(GRCh37/hg19 by Entrez Gene)
Size:
6,104 bases
Orientation:
Minus strand

chr9:35,073,832-35,080,013
(GRCh37/hg19 by Ensembl)
Size:
6,182 bases
Orientation:
Minus strand

Genomic View for FANCG Gene

Genes around FANCG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FANCG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FANCG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FANCG Gene

Proteins for FANCG Gene

  • Protein details for FANCG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15287-FANCG_HUMAN
    Recommended name:
    Fanconi anemia group G protein
    Protein Accession:
    O15287

    Protein attributes for FANCG Gene

    Size:
    622 amino acids
    Molecular mass:
    68554 Da
    Quaternary structure:
    • Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients. In complex with FANCF, FANCA and FANCL, but not with FANCC, nor FANCE, interacts with HES1; this interaction may be essential for the stability and nuclear localization of FA core complex proteins. The complex with FANCC and FANCG may also include EIF2AK2 and HSP70. When phosphorylated at Ser-7, forms a complex with BRCA2, FANCD2 and XRCC3.

neXtProt entry for FANCG Gene

Post-translational modifications for FANCG Gene

  • Ubiquitination at Lys28, Lys491, Lys504, and Lys559
  • Modification sites at PhosphoSitePlus

Other Protein References for FANCG Gene

No data available for DME Specific Peptides for FANCG Gene

Domains & Families for FANCG Gene

Gene Families for FANCG Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for FANCG Gene

Suggested Antigen Peptide Sequences for FANCG Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59471, highly similar to Fanconi anemia group G protein (B4DE21_HUMAN)
  • DNA repair protein XRCC9 (FANCG_HUMAN)
  • cDNA, FLJ93448, Homo sapiens Fanconi anemia, complementation group G (FANCG), mRNA (Q53XM5_HUMAN)
genes like me logo Genes that share domains with FANCG: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FANCG Gene

Function for FANCG Gene

Molecular function for FANCG Gene

UniProtKB/Swiss-Prot Function:
DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Candidate tumor suppressor gene.

Phenotypes From GWAS Catalog for FANCG Gene

Gene Ontology (GO) - Molecular Function for FANCG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003684 damaged DNA binding TAS 9806548
GO:0005515 protein binding IPI 10627486
genes like me logo Genes that share ontologies with FANCG: view
genes like me logo Genes that share phenotypes with FANCG: view

Human Phenotype Ontology for FANCG Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FANCG Gene

MGI Knock Outs for FANCG:

miRNA for FANCG Gene

miRTarBase miRNAs that target FANCG

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FANCG

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FANCG Gene

Localization for FANCG Gene

Subcellular locations from UniProtKB/Swiss-Prot for FANCG Gene

Nucleus. Cytoplasm. Note=The major form is nuclear. The minor form is cytoplasmic.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FANCG gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5
plasma membrane 4
extracellular 1
cytoskeleton 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoli (2)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FANCG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA 17060495
genes like me logo Genes that share ontologies with FANCG: view

Pathways & Interactions for FANCG Gene

PathCards logo

SuperPathways for FANCG Gene

SuperPathway Contained pathways
1 Fanconi anemia pathway
2 BRCA1 Pathway
.01
-
3 Chks in Checkpoint Regulation
.32
4 DNA Double-Strand Break Repair
5 BARD1 signaling events
genes like me logo Genes that share pathways with FANCG: view

Pathways by source for FANCG Gene

2 BioSystems pathways for FANCG Gene
2 Reactome pathways for FANCG Gene
1 KEGG pathway for FANCG Gene
3 Qiagen pathways for FANCG Gene
  • BRCA1 Pathway
  • DNA Repair Mechanisms
  • Fanconi's Anaemia Pathway

SIGNOR curated interactions for FANCG Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for FANCG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001541 ovarian follicle development IEA --
GO:0006281 DNA repair TAS 9256465
GO:0006974 cellular response to DNA damage stimulus IBA 21873635
GO:0007005 mitochondrion organization IMP 17060495
GO:0007286 spermatid development IEA --
genes like me logo Genes that share ontologies with FANCG: view

Drugs & Compounds for FANCG Gene

(4) Drugs for FANCG Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for FANCG Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FANCG: view

Transcripts for FANCG Gene

mRNA/cDNA for FANCG Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FANCG

Alternative Splicing Database (ASD) splice patterns (SP) for FANCG Gene

No ASD Table

Relevant External Links for FANCG Gene

GeneLoc Exon Structure for
FANCG

Expression for FANCG Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FANCG Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FANCG Gene

This gene is overexpressed in Bone (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FANCG Gene



Protein tissue co-expression partners for FANCG Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FANCG

SOURCE GeneReport for Unigene cluster for FANCG Gene:

Hs.591084

mRNA Expression by UniProt/SwissProt for FANCG Gene:

O15287-FANCG_HUMAN
Tissue specificity: Highly expressed in testis and thymus. Found in lymphoblasts.

Evidence on tissue expression from TISSUES for FANCG Gene

  • Kidney(4.3)
  • Nervous system(3.7)
  • Bone marrow(2.4)
  • Skin(2.1)
  • Blood(2.1)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FANCG Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
Thorax:
  • breast
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • stomach
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • ureter
  • uterus
  • vagina
  • vulva
Limb:
  • arm
  • digit
  • finger
  • forearm
  • hand
  • radius
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with FANCG: view

Primer products for research

No data available for mRNA differential expression in normal tissues for FANCG Gene

Orthologs for FANCG Gene

This gene was present in the common ancestor of chordates.

Orthologs for FANCG Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FANCG 29 30
  • 99.52 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FANCG 29 30
  • 85.32 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FANCG 29
  • 85.17 (n)
MGC159566 30
  • 78 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Fancg 29 16 30
  • 79.42 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fancg 29
  • 78.29 (n)
Oppossum
(Monodelphis domestica)
Mammalia FANCG 30
  • 54 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 47 (a)
OneToMany
-- 30
  • 41 (a)
OneToMany
Chicken
(Gallus gallus)
Aves FANCG 29 30
  • 49.83 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FANCG 30
  • 36 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fancg 29
  • 48.97 (n)
Zebrafish
(Danio rerio)
Actinopterygii fancg 29 30
  • 43.33 (n)
OneToOne
Species where no ortholog for FANCG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for FANCG Gene

ENSEMBL:
Gene Tree for FANCG (if available)
TreeFam:
Gene Tree for FANCG (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FANCG: view image
Alliance of Genome Resources:
Additional Orthologs for FANCG

Paralogs for FANCG Gene

No data available for Paralogs for FANCG Gene

Variants for FANCG Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FANCG Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
1004290 Uncertain Significance: Fanconi anemia 35,074,413(-) C/A
NM_004629.2(FANCG):c.1718G>T (p.Arg573Met)
MISSENSE
1011914 Uncertain Significance: Fanconi anemia 35,078,619(-) C/A
NM_004629.2(FANCG):c.293G>T (p.Arg98Leu)
MISSENSE
1014201 Uncertain Significance: Fanconi anemia 35,075,606(-) A/C
NM_004629.2(FANCG):c.1292T>G (p.Met431Arg)
MISSENSE
1027151 Uncertain Significance: Fanconi anemia 35,075,044(-) C/T
NM_004629.2(FANCG):c.1519G>A (p.Ala507Thr)
MISSENSE
1036676 Uncertain Significance: Fanconi anemia 35,077,086(-) A/T
NM_004629.2(FANCG):c.662T>A (p.Ile221Asn)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FANCG Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FANCG Gene

Variant ID Type Subtype PubMed ID
nsv1125318 OTHER inversion 24896259

Variation tolerance for FANCG Gene

Residual Variation Intolerance Score: 88.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.39; 71.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FANCG Gene

Human Gene Mutation Database (HGMD)
FANCG
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FANCG
Leiden Open Variation Database (LOVD)
FANCG

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FANCG Gene

Disorders for FANCG Gene

MalaCards: The human disease database

(26) MalaCards diseases for FANCG Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search FANCG in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FANCG_HUMAN
  • Fanconi anemia complementation group G (FANCG) [MIM:614082]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. {ECO:0000269 PubMed:11093276, ECO:0000269 PubMed:18550849}. Note=The disease is caused by variants affecting the gene represented in this entry.

Genatlas disease for FANCG Gene

Fanconi anemia,autosomal recessive,complementation group G,characterized by progressive bone marrow failure (pancytopenia),often associated with skeletal abnormalities and an increased cancer risk and with spontaneous chromosomal breakage exacerbated by exposure to DNA cross-linking agents

Additional Disease Information for FANCG

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with FANCG: view

Publications for FANCG Gene

  1. Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9. (PMID: 11093276) Demuth I … Digweed M (European journal of human genetics : EJHG 2000) 3 4 22 72
  2. The human XRCC9 gene corrects chromosomal instability and mutagen sensitivities in CHO UV40 cells. (PMID: 9256465) Liu N … Thompson LH (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3 4 22
  3. FANCG promotes formation of a newly identified protein complex containing BRCA2, FANCD2 and XRCC3. (PMID: 18212739) Wilson JB … Jones NJ (Oncogene 2008) 3 4 22
  4. The Fanconi anemia proteins functionally interact with the protein kinase regulated by RNA (PKR). (PMID: 15299030) Zhang X … Pang Q (The Journal of biological chemistry 2004) 3 4 22
  5. Fanconi anemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex. (PMID: 10373536) Garcia-Higuera I … D'Andrea AD (Molecular and cellular biology 1999) 3 4 22

Products for FANCG Gene

Sources for FANCG Gene