FANCG
entrez
2189
canonical
uniprot
O15287
canonical
ensembl
ENSG00000221829
resolver
ensp
ENSP00000367910
resolver
ensp
ENSP00000409607
resolver
enst
ENST00000378643
resolver
enst
ENST00000448890
resolver
genesymbol
FANCG
resolver
genesymbol_syn
XRCC9
resolver
hgnc
HGNC:3588
resolver
uniprot
Q53XM5
resolver
uniprot_entry
FANCG_HUMAN
resolver
uniprot_entry
Q53XM5_HUMAN
resolver
amino_acid_sequence
MSRQTTSVGSSCLDLWREKNDRLVRQAKVAQNSGLTLRRQQLAQDALEGLRGLLHSLQGLPAAVPVLPLELTVTCNFIILRASLAQGFTEDQAQDIQRSLERVLETQEQQGPRLEQGLRELWDSVLRASCLLPELLSALHRLVGLQAALWLSADRLGDLALLLETLNGSQSGASKDLLLLLKTWSPPAEELDAPLTLQDAQGLKDVLLTAFAYRQGLQELITGNPDKALSSLHEAASGLCPRPVLVQVYTALGSCHRKMGNPQRALLYLVAALKEGSAWGPPLLEASRLYQQLGDTTAELESLELLVEALNVPCSSKAPQFLIEVELLLPPPDLASPLHCGTQSQTKHILASRCLQTGRAGDAAEHYLDLLALLLDSSEPRFSPPPSPPGPCMPEVFLEAAVALIQAGRAQDALTLCEELLSRTSSLLPKMSRLWEDARKGTKELPYCPLWVSATHLLQGQAWVQLGAQKVAISEFSRCLELLFRATPEEKEQGAAFNCEQGCKSDAALQQLRAAALISRGLEWVASGQDTKALQDFLLSVQMCPGNRDTYFHLLQTLKRLDRRDEATALWWRLEAQTKGSHEDALWSLPLYLESYLSWIRPSDRDAFLEEFRTSLPKSCDL
uniprot
proteins
disease_involvement
DISEASE: 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.
uniprot
proteins
function
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.
uniprot
proteins
mass_dalton
68554
uniprot
proteins
mutagenesis
MUTAGEN 7; /note="S->A: Loss of BRCA2-, FANCD2- and XRCC3-binding. No effect on complex formation with FANCA and FANCF."; /evidence="ECO:0000269|PubMed:18212739"; MUTAGEN 383; /note="S->A: No effect on BRCA2-, FANCA-, FANCF-, nor XRCC3-binding."; /evidence="ECO:0000269|PubMed:18212739"; MUTAGEN 387; /note="S->A: No effect on BRCA2-, FANCA-, FANCF-, nor XRCC3-binding."; /evidence="ECO:0000269|PubMed:18212739"; MUTAGEN 546; /note="G->R: No effect on HES1-, nor FANCA-binding."; /evidence="ECO:0000269|PubMed:18550849
uniprot
proteins
pubmed
10373536
uniprot
proteins
pubmed
11093276
uniprot
proteins
pubmed
12724401
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15299030
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15502827
uniprot
proteins
pubmed
16116422
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
18212739
uniprot
proteins
pubmed
18550849
uniprot
proteins
pubmed
22266823
uniprot
proteins
pubmed
22343915
uniprot
proteins
pubmed
22705371
uniprot
proteins
pubmed
9256465
uniprot
proteins
pubmed
9806548
uniprot
proteins
sequence_length
622
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18550849}. Cytoplasm {ECO:0000269|PubMed:18550849}. Note=The major form is nuclear. The minor form is cytoplasmic.
uniprot
proteins