FANCG
Fanconi anemia group G protein
Also known as: FAG, FANCG_HUMAN, XRCC9
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O15287
- Gene
- FANCG
- Ensembl
- ENSG00000221829
- Chromosome
- 9
- Canonical length
- 622 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nuclear speckles
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
622 residues, UniProt reviewed canonical sequence.
>O15287|FANCG
1 MSRQTTSVGS SCLDLWREKN DRLVRQAKVA QNSGLTLRRQ QLAQDALEGL RGLLHSLQGL
61 PAAVPVLPLE LTVTCNFIIL RASLAQGFTE DQAQDIQRSL ERVLETQEQQ GPRLEQGLRE
121 LWDSVLRASC LLPELLSALH RLVGLQAALW LSADRLGDLA LLLETLNGSQ SGASKDLLLL
181 LKTWSPPAEE LDAPLTLQDA QGLKDVLLTA FAYRQGLQEL ITGNPDKALS SLHEAASGLC
241 PRPVLVQVYT ALGSCHRKMG NPQRALLYLV AALKEGSAWG PPLLEASRLY QQLGDTTAEL
301 ESLELLVEAL NVPCSSKAPQ FLIEVELLLP PPDLASPLHC GTQSQTKHIL ASRCLQTGRA
361 GDAAEHYLDL LALLLDSSEP RFSPPPSPPG PCMPEVFLEA AVALIQAGRA QDALTLCEEL
421 LSRTSSLLPK MSRLWEDARK GTKELPYCPL WVSATHLLQG QAWVQLGAQK VAISEFSRCL
481 ELLFRATPEE KEQGAAFNCE QGCKSDAALQ QLRAAALISR GLEWVASGQD TKALQDFLLS
541 VQMCPGNRDT YFHLLQTLKR LDRRDEATAL WWRLEAQTKG SHEDALWSLP LYLESYLSWI
601 RPSDRDAFLE EFRTSLPKSC DLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against FANCG can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.28
- Highest tissue expression
- 8.8 nTPM
Expression across tissuesHPA
Tissue
- thymus: 8.8 nTPM
- cerebellum: 8.5 nTPM
- bone marrow: 6.8 nTPM
- pancreas: 6.4 nTPM
- testis: 6.1 nTPM
- esophagus: 5.9 nTPM
Single-cell type
- differentiating spermatogonia: 13 nCPM
- early primary spermatocytes: 12 nCPM
- megakaryocyte progenitors: 8.4 nCPM
- erythrocyte progenitors: 6.1 nCPM
- extravillous trophoblasts: 5.8 nCPM
- undifferentiated spermatogonia: 5.2 nCPM
Immune cell
- basophil: 10 nTPM
- T-reg: 7.7 nTPM
- NK-cell: 6.1 nTPM
- eosinophil: 5.5 nTPM
- gdT-cell: 5.1 nTPM
- memory B-cell: 4.7 nTPM
Brain region
- choroid plexus: 2.4 nTPM
- midbrain: 2.4 nTPM
- amygdala: 2.3 nTPM
- cerebellum: 2.3 nTPM
- cerebral cortex: 2.3 nTPM
- medulla oblongata: 2.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about FANCG.
Disease | AllUniProt
Conditions FANCG is implicated in, by any mechanism.
- Fanconi anemia complementation group G (FANCG) MIM:614082
Disease | GeneticClinVar
214 pathogenic / likely-pathogenic of 1,511 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Fanconi anemia complementation group G
- Fanconi anemia
- FANCG-related disorder
- Ovarian cancer
- Pituitary stalk interruption syndrome
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.09
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.24
- DepMap mean gene effect
- -0.04
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- DNA damage response
- DNA repair
- interstrand cross-link repair
- mitochondrion organization
- ovarian follicle development
- response to radiation
- spermatid development
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Tetratricopeptide-like helical domain superfamily
- Tetratricopeptide repeat
- Fanconi anemia group G protein
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of FANCG in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads FANCG as an antibody target. Whether an autoantibody or antibody against FANCG could matter depends on whether native FANCG is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FANCG is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label FANCG as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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