Homo sapiens Fanconi anemia, complementation group C (FANCC), mRNA.
| RefSeq Version | NM_000136.2, 56118235 |
| Length | 4612 bp |
| Structure | linear |
| Update Date | 09-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens Fanconi anemia, complementation group C (FANCC), mRNA. |
| Product | Fanconi anemia group C 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 C. [provided by RefSeq]. |
| RefSeq | NP_000127.2 |
| CDS | 263..1939 | Exon (1) | 1..184 | Exon (2) | 1..184 | Exon (3) | 185..427 | Exon (4) | 428..512 | Exon (5) | 513..607 | Exon (6) | 608..718 | Exon (7) | 719..783 | Exon (8) | 784..948 | Exon (9) | 949..1105 | Exon (10) | 1106..1158 | Exon (11) | 1159..1258 | Exon (12) | 1259..1334 | Exon (13) | 1335..1416 | Exon (14) | 1417..1591 | Exon (15) | 1592..1795 | Exon (16) | 1796..4592 |
| Translation | MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTV
IERFPTIGQLLAKACWNPFILAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSH
ILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASELRENHLNGFNTQRRMAPERV
ASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV
CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRC
ALLETDGALEIIATIQVFTQCFVEALEKASKQLRFALKTYFPYTSPSLAMVLLQDPQDIP
RGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHFGGWAEMVAEQLLMSAAEPPT
ALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSRSSSLSAQDLQTVAGQGTDTDLR
APAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWNRLGIES
PRSEKLARELLKELRTQV
Order your protein of interest with our Guaranteed or It's Free Service now! For details, please click here. |
| Position | Chain | Variation | Link |
| 34..35 | + | , cg | dbSNP:4647349 |
| complement(65) | - | t, g | dbSNP:117546632 |
| 234 | + | a, c | dbSNP:4647414 |
| complement(238) | - | t, g | dbSNP:56095406 |
| 329 | + | , g | dbSNP:104886459 |
| 339 | + | c, t | dbSNP:1800361 |
| complement(439) | - | t, c | dbSNP:111782855 |
| 501 | + | c, t | dbSNP:4647419 |
| complement(655) | - | g, a | dbSNP:111834377 |
| 670 | + | a, g | dbSNP:1800360 |
| 678 | + | a, g | dbSNP:1800362 |
| complement(812) | - | t, a | dbSNP:41306494 |
| 830 | + | c, t | dbSNP:1800364 |
| 846 | + | a, t | dbSNP:1800365 |
| 954..956 | + | , aga | dbSNP:3831244 |
| complement(1052) | - | t, c | dbSNP:111657009 |
| complement(1078) | - | g, a | dbSNP:55719336 |
| complement(1102) | - | t, c | dbSNP:34671520 |
| complement(1122) | - | t, g | dbSNP:76486610 |
| 1196 | + | a, g | dbSNP:1800366 |
| complement(1268) | - | c, a | dbSNP:78555330 |
| complement(1418) | - | g, a | dbSNP:41281202 |
| complement(1464) | - | t, c | dbSNP:71498691 |
| 1607 | + | a, g | dbSNP:1800367 |
| complement(1636) | - | t, g | dbSNP:56394801 |
| 1656 | + | a, g | dbSNP:1800368 |
| complement(1669) | - | t, c | dbSNP:79722116 |
| complement(1747) | - | t, c | dbSNP:56082100 |
| complement(1756) | - | g, a | dbSNP:76895298 |
| complement(1857) | - | t, c | dbSNP:55939573 |
| 1904 | + | c, t | dbSNP:104886457 |
| 1923 | + | c, t | dbSNP:104886458 |
| complement(1944) | - | g, a | dbSNP:117175949 |
| complement(1975..1976) | - | , a | dbSNP:34831009 |
| complement(1976) | - | t, a | dbSNP:76092534 |
| complement(1977) | - | t, a | dbSNP:76575945 |
| complement(1977) | - | , a | dbSNP:34760720 |
| complement(1981) | - | t, c | dbSNP:7029888 |
| complement(2016) | - | t, c | dbSNP:56383909 |
| complement(2035) | - | t, c | dbSNP:55687573 |
| complement(2055) | - | t, g | dbSNP:7048910 |
| 2298 | + | a, g | dbSNP:4647551 |
| 2524 | + | a, g | dbSNP:4647552 |
| complement(2543..2544) | - | , ac | dbSNP:56271854 |
| complement(2599) | - | g, a | dbSNP:114612660 |
| 2647 | + | g, t | dbSNP:4647553 |
| complement(2665) | - | , aact | dbSNP:56250966 |
| complement(2922) | - | g, a | dbSNP:56059656 |
| complement(2923) | - | t, c | dbSNP:3780559 |
| complement(2998) | - | , t | dbSNP:34302466 |
| complement(3010) | - | c, a | dbSNP:55897369 |
| complement(3035) | - | g, a | dbSNP:111688138 |
| complement(3071..3072) | - | , c | dbSNP:34108689 |
| complement(3161) | - | t, a | dbSNP:56737425 |
| complement(3163) | - | c, a | dbSNP:56280046 |
| 3201 | + | c, t | dbSNP:45520432 |
| 3227 | + | c, t | dbSNP:4647554 |
| complement(3318) | - | g, c | dbSNP:55901384 |
| complement(3384..3418) | - | , gcacgaagcatgttatatgaaggcaatgaccatga | dbSNP:58858704 |
| 3396 | + | c, t | dbSNP:4647555 |
| complement(3417..3418) | - | , tg | dbSNP:72229241 |
| complement(3419..3453) | - | , gcacgaagcatgttatatgaaggcaatgaccatga | dbSNP:55962383 |
| complement(3434) | - | c, a | dbSNP:41281198 |
| complement(3551) | - | g, a | dbSNP:56138409 |
| 3601 | + | c, t | dbSNP:4647556 |
| 3666 | + | a, t | dbSNP:4647557 |
| 3810 | + | a, g | dbSNP:4647558 |
| complement(3834) | - | g, a | dbSNP:56161090 |
| complement(3907) | - | t, c | dbSNP:114827984 |
| 4024 | + | a, c | dbSNP:4647559 |
| 4105 | + | c, g | dbSNP:4647560 |
| 4208 | + | a, t | dbSNP:4647561 |
| complement(4463) | - | t, c | dbSNP:56199232 |
| 4491 | + | c, t | dbSNP:9673 |
| Gene Symbol | FANCC |
| Gene Synonym | FA3; FAC; FACC; FLJ14675 |
| Chromosome | 9 |
| Locus Map | 9q22.3 |
| All Transcripts | NM_000136 |
| Title | Cytoplasmic FANCA-FANCC complex interacts and stabilizes the cytoplasm-dislocalized leukemic nucleophosmin protein (NPMc) . |
| Author | Du,W., Li,J., Sipple,J., Chen,J. and Pang,Q. |
| Journal | J. Biol. Chem. 285 (48), 37436-37444 (2010) |
| Title | Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs . |
| Author | Hartmann,L., Neveling,K., Borkens,S., Schneider,H., Freund,M., Grassman,E., Theiss,S., Wawer,A., Burdach,S., Auerbach,A.D., Schindler,D., Hanenberg,H. and Schaal,H. |
| Journal | Am. J. Hum. Genet. 87 (4), 480-493 (2010) |
| 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 | Ku70 corrupts DNA repair in the absence of the Fanconi anemia pathway . |
| Author | Pace,P., Mosedale,G., Hodskinson,M.R., Rosado,I.V., Sivasubramaniam,M. and Patel,K.J. |
| Journal | Science 329 (5988), 219-223 (2010) |
| Title | Genetic inactivation of the Fanconi anemia gene FANCC identified in the hepatocellular carcinoma cell line HuH-7 confers sensitivity towards DNA-interstrand crosslinking agents . |
| Author | Palagyi,A., Neveling,K., Plinninger,U., Ziesch,A., Targosz,B.S., Denk,G.U., Ochs,S., Rizzani,A., Meier,D., Thasler,W.E., Hanenberg,H., De Toni,E.N., Bassermann,F., Schafer,C., Goke,B., Schindler,D. and Gallmeier,E. |
| Journal | Mol. Cancer 9, 127 (2010) |
| Title | Carrier frequency of the IVS4 + 4 A-->T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population . |
| Author | Verlander,P.C., Kaporis,A., Liu,Q., Zhang,Q., Seligsohn,U. and Auerbach,A.D. |
| Journal | Blood 86 (11), 4034-4038 (1995) |
| Title | The Fanconi anemia polypeptide FACC is localized to the cytoplasm . |
| Author | Yamashita,T., Barber,D.L., Zhu,Y., Wu,N. and D'Andrea,A.D. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 91 (14), 6712-6716 (1994) |
| Title | Cloning of cDNAs for Fanconi's anaemia by functional complementation . |
| Author | Strathdee,C.A., Gavish,H., Shannon,W.R. and Buchwald,M. |
| Journal | Nature 358 (6385), 434 (1992) |
| Title | Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9 . |
| Author | Strathdee,C.A., Duncan,A.M. and Buchwald,M. |
| Journal | Nat. Genet. 1 (3), 196-198 (1992) |
| Title | Cloning of cDNAs for Fanconi's anaemia by functional complementation . |
| Author | Strathdee,C.A., Gavish,H., Shannon,W.R. and Buchwald,M. |
| Journal | Nature 356 (6372), 763-767 (1992) |
Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.
 |
Secured Online Quotation |
 |
Email: gene@genscript.com |
 |
Phone: 1-877-436-7274 (Toll-Free) 1-732-885-9188 |
 |
Fax: 1-732-210-0262 1-732-885-5878 |