Homo sapiens Fanconi anemia, complementation group G (FANCG), mRNA.
| RefSeq Version | NM_004629.1, 4759335 |
| Length | 2649 bp |
| Structure | linear |
| Update Date | 09-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens Fanconi anemia, complementation group G (FANCG), mRNA. |
| Product | Fanconi anemia group G protein |
| Comment | 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]. |
| RefSeq | NP_004620.1 |
| CDS | 493..2361 | Exon (1) | 1..576 | Exon (2) | 1..576 | Exon (3) | 577..667 | Exon (4) | 668..799 | Exon (5) | 800..1002 | Exon (6) | 1003..1138 | Exon (7) | 1139..1269 | Exon (8) | 1270..1416 | Exon (9) | 1417..1568 | Exon (10) | 1569..1635 | Exon (11) | 1636..1925 | Exon (12) | 1926..1972 | Exon (13) | 1973..2128 | Exon (14) | 2129..2252 | Exon (15) | 2253..2631 |
| Translation | MSRQTTSVGSSCLDLWREKNDRLVRQAKVAQNSGLTLRRQQLAQDALEGLRGLLHSLQGL
PAAVPVLPLELTVTCNFIILRASLAQGFTEDQAQDIQRSLERVLETQEQQGPRLEQGLRE
LWDSVLRASCLLPELLSALHRLVGLQAALWLSADRLGDLALLLETLNGSQSGASKDLLLL
LKTWSPPAEELDAPLTLQDAQGLKDVLLTAFAYRQGLQELITGNPDKALSSLHEAASGLC
PRPVLVQVYTALGSCHRKMGNPQRALLYLVAALKEGSAWGPPLLEASRLYQQLGDTTAEL
ESLELLVEALNVPCSSKAPQFLIEVELLLPPPDLASPLHCGTQSQTKHILASRCLQTGRA
GDAAEHYLDLLALLLDSSEPRFSPPPSPPGPCMPEVFLEAAVALIQAGRAQDALTLCEEL
LSRTSSLLPKMSRLWEDARKGTKELPYCPLWVSATHLLQGQAWVQLGAQKVAISEFSRCL
ELLFRATPEEKEQGAAFNCEQGCKSDAALQQLRAAALISRGLEWVASGQDTKALQDFLLS
VQMCPGNRDTYFHLLQTLKRLDRRDEATALWWRLEAQTKGSHEDALWSLPLYLESYLSWI
RPSDRDAFLEEFRTSLPKSCDL
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| Position | Chain | Variation | Link |
| complement(3) | - | c, a | dbSNP:10972303 |
| 40..41 | + | , t | dbSNP:16935545 |
| complement(101) | - | t, c | dbSNP:10972302 |
| 512 | + | c, t | dbSNP:35984312 |
| 682 | + | g, t | dbSNP:34821298 |
| complement(730) | - | g, a | dbSNP:115131067 |
| 805 | + | g, t | dbSNP:121434425 |
| complement(1132) | - | g, a | dbSNP:61757385 |
| 1239 | + | c, t | dbSNP:1043957 |
| 1373 | + | a, g | dbSNP:17880082 |
| complement(1382) | - | g, a | dbSNP:2237857 |
| complement(1389..1390) | - | , c | dbSNP:34504701 |
| complement(1397) | - | c, a | dbSNP:61757386 |
| complement(1448..1449) | - | , g | dbSNP:34100177 |
| 1480 | + | c, t | dbSNP:4986940 |
| 1558 | + | c, t | dbSNP:121434426 |
| complement(1562) | - | g, a | dbSNP:112854819 |
| complement(1625) | - | g, a | dbSNP:4986939 |
| 1780 | + | a, g | dbSNP:17881054 |
| complement(1946) | - | t, c | dbSNP:77152961 |
| 2030 | + | a, g | dbSNP:17885240 |
| 2130 | + | c, t | dbSNP:45537335 |
| 2300 | + | c, t | dbSNP:17878854 |
| complement(2400) | - | t, c | dbSNP:56405035 |
| complement(2444) | - | , c | dbSNP:35057847 |
| 2612 | + | a, g | dbSNP:17878564 |
| Title | Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk . |
| Author | Monsees,G.M., Kraft,P., Chanock,S.J., Hunter,D.J. and Han,J. |
| Journal | Breast Cancer Res. Treat. 125 (1), 207-214 (2011) |
| Title | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study . |
| Author | Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S. |
| Journal | Diabetes Care 33 (10), 2250-2253 (2010) |
| Title | The Fanconi anemia protein, FANCG, binds to the ERCC1-XPF endonuclease via its tetratricopeptide repeats and the central domain of ERCC1 . |
| Author | Wang,C. and Lambert,M.W. |
| Journal | Biochemistry 49 (26), 5560-5569 (2010) |
| Title | Genetic variation in 3-hydroxy-3-methylglutaryl CoA reductase modifies the chemopreventive activity of statins for colorectal cancer . |
| Author | Lipkin,S.M., Chao,E.C., Moreno,V., Rozek,L.S., Rennert,H., Pinchev,M., Dizon,D., Rennert,G., Kopelovich,L. and Gruber,S.B. |
| Journal | Cancer Prev Res (Phila) 3 (5), 597-603 (2010) |
| Title | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip . |
| Author | Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C., Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R., Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A., Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C., Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S., Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N., Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D. |
| Journal | Am. J. Hum. Genet. 85 (5), 628-642 (2009) |
| Title | Rare germinal unequal crossing-over leading to recombinant gene formation and gene duplication in Arabidopsis thaliana . |
| Author | Jelesko,J.G., Harper,R., Furuya,M. and Gruissem,W. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 96 (18), 10302-10307 (1999) |
| Title | Fanconi anemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex . |
| Author | Garcia-Higuera,I., Kuang,Y., Naf,D., Wasik,J. and D'Andrea,A.D. |
| Journal | Mol. Cell. Biol. 19 (7), 4866-4873 (1999) |
| Title | The Fanconi anaemia group G gene FANCG is identical with XRCC9 . |
| Author | de Winter,J.P., Waisfisz,Q., Rooimans,M.A., van Berkel,C.G., Bosnoyan-Collins,L., Alon,N., Carreau,M., Bender,O., Demuth,I., Schindler,D., Pronk,J.C., Arwert,F., Hoehn,H., Digweed,M., Buchwald,M. and Joenje,H. |
| Journal | Nat. Genet. 20 (3), 281-283 (1998) |
| Title | Evidence for at least eight Fanconi anemia genes . |
| Author | Joenje,H., Oostra,A.B., Wijker,M., di Summa,F.M., van Berkel,C.G., Rooimans,M.A., Ebell,W., van Weel,M., Pronk,J.C., Buchwald,M. and Arwert,F. |
| Journal | Am. J. Hum. Genet. 61 (4), 940-944 (1997) |
| Title | The human XRCC9 gene corrects chromosomal instability and mutagen sensitivities in CHO UV40 cells . |
| Author | Liu,N., Lamerdin,J.E., Tucker,J.D., Zhou,Z.Q., Walter,C.A., Albala,J.S., Busch,D.B. and Thompson,L.H. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 94 (17), 9232-9237 (1997) |
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