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Aliases for FANCG Gene

Aliases for FANCG Gene

  • Fanconi Anemia 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
  • XRCC9 3 4
  • Truncated Fanconi Anemia Group G Protein 3
  • Fanconi Anemia Group G Protein 3
  • Protein FACG 4
  • FAG 3

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 (Fanconi Anemia 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 Fanconi anemia pathway and BRCA1 Pathway. GO annotations related to this gene include signal transducer activity and damaged DNA binding.

UniProtKB/Swiss-Prot 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

Additional gene information for FANCG Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FANCG Gene

Genomics for FANCG Gene

Regulatory Elements for FANCG Gene

Enhancers for FANCG Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H034987 1.6 FANTOM5 ENCODE dbSUPER 16.2 +86.7 86737 10.6 HDGF PKNOX1 ARID4B SIN3A YY1 ZNF207 ZNF143 FOS DEK SP3 VCP UBAP2 ARHGEF39 TPM2 FANCG CCDC107 TLN1 YBX1P10 PIGO FAM205A
GH09H035025 1.1 Ensembl ENCODE 22.7 +52.7 52744 4.1 PKNOX1 ATF1 TCF12 ZNF766 CREM CAVIN1 REST ZEB2 HDAC8 ZNF592 PIGO FANCG TMEM8B DNAJB5 ENSG00000230074 SPAG8 PHF24 STOML2 ENSG00000234181 CREB3
GH09H035487 1.7 FANTOM5 ENCODE dbSUPER 12.7 -410.5 -410479 5.5 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 ZNF766 SP3 ZHX2 MXD4 PIGO FANCG TMEM8B FAM214B SPAG8 FAM166B NPR2 HMGB3P24 UNC13B GBA2
GH09H034999 1.3 Ensembl ENCODE dbSUPER 15.6 +79.0 78988 3 PKNOX1 TAL1 ETV1 CEBPG BATF FOSL1 TCF12 CTBP1 GATA2 NCOR1 VCP FANCG C9orf131 PHF24 PIGO ENSG00000234181 STOML2 ENSG00000279489 GC09P034997
GH09H035069 1.3 ENCODE dbSUPER 15 +8.1 8122 4.1 HDGF PKNOX1 ARID4B SIN3A YY1 ZNF207 ZNF143 FOS SP3 CEBPZ VCP FANCG TMEM8B FAM205A C9orf131 ENSG00000228352 ATP8B5P PIGO NPR2 RN7SL338P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FANCG on UCSC Golden Path with GeneCards custom track

Promoters for FANCG Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000234594 16 1601 HDGF ATF1 ARID4B SIN3A DMAP1 YY1 ETS1 ZNF121 SLC30A9 GLIS2

Genomic Locations for FANCG Gene

Genomic Locations for FANCG Gene
chr9:35,073,835-35,080,016
(GRCh38/hg38)
Size:
6,182 bases
Orientation:
Minus strand
chr9:35,073,832-35,080,013
(GRCh37/hg19)

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 isoforms=28, posLast=504504, and isoforms=559
  • Modification sites at PhosphoSitePlus

Other Protein References for FANCG Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FANCG: view

No data available for 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 10373536
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:

Animal Model Products

CRISPR Products

miRNA for FANCG Gene

miRTarBase miRNAs that target FANCG

Inhibitory RNA Products

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
plasma membrane 5
mitochondrion 5
nucleus 5
cytosol 5
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoli (3)
  • Plasma membrane (2)
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

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

SIGNOR curated interactions for FANCG Gene

Is activated by:

Gene Ontology (GO) - Biological Process for FANCG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000075 cell cycle checkpoint TAS 9256465
GO:0001541 ovarian follicle development IEA --
GO:0006281 DNA repair TAS 9256465
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0007005 mitochondrion organization IMP 17060495
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

Unigene Clusters for FANCG Gene

Fanconi anemia, complementation group G:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for FANCG Gene

GeneLoc Exon Structure for
FANCG
ECgene alternative splicing isoforms for
FANCG

Expression for FANCG Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for FANCG Gene



Protein tissue co-expression partners for FANCG Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FANCG Gene:

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(4.1)
  • Nervous system(3.4)
  • Eye(2.4)
  • Bone marrow(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
Organs:
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

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 33 34
  • 99.52 (n)
dog
(Canis familiaris)
Mammalia FANCG 33 34
  • 85.32 (n)
cow
(Bos Taurus)
Mammalia FANCG 33
  • 85.17 (n)
MGC159566 34
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fancg 33 16 34
  • 79.42 (n)
rat
(Rattus norvegicus)
Mammalia Fancg 33
  • 78.29 (n)
oppossum
(Monodelphis domestica)
Mammalia FANCG 34
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 47 (a)
OneToMany
-- 34
  • 41 (a)
OneToMany
chicken
(Gallus gallus)
Aves FANCG 33 34
  • 49.83 (n)
lizard
(Anolis carolinensis)
Reptilia FANCG 34
  • 36 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fancg 33
  • 48.97 (n)
zebrafish
(Danio rerio)
Actinopterygii fancg 33 34
  • 43.33 (n)
Species where no ortholog for FANCG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for FANCG Gene

No data available for Paralogs for FANCG Gene

Variants for FANCG Gene

Sequence variations from dbSNP and Humsavar for FANCG Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs758407400 A colorectal cancer sample 35,074,158(+) GAAGG(C/T)GTCAC upstream-variant-2KB, reference, missense
VAR_017495 Fanconi anemia complementation group G (FANCG) [MIM:614082]
rs121434425 Pathogenic 35,078,338(-) TGCTG(G/T)AGACA reference, stop-gained
rs121434426 Pathogenic 35,076,442(-) GCCTA(C/T)AGACG reference, stop-gained
rs149616199 Pathogenic 35,075,278(+) GATCA(C/G)CTTGT splice-donor-variant

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)

Relevant External Links for FANCG Gene

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

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

Disorders for FANCG Gene

MalaCards: The human disease database

(18) MalaCards diseases for FANCG Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fanconi anemia, complementation group g
  • fanconi anemia complementation group g
fanconi anemia, complementation group a
  • fanconi's anemia
fancg-related fanconi anemia
chorioretinal scar
fanconi anemia, complementation group f
  • fanconi anemia complementation group f
- 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 mutations 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

Relevant External Links for FANCG

Genetic Association Database (GAD)
FANCG
Human Genome Epidemiology (HuGE) Navigator
FANCG
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FANCG
genes like me logo Genes that share disorders with FANCG: view

Publications for FANCG Gene

  1. 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 60
  2. 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 60
  3. 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 60
  4. 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 60
  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 60

Products for FANCG Gene

Sources for FANCG Gene

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