Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.
| RefSeq Version | NM_001127510.2, 307133685 |
| Length | 10848 bp |
| Structure | linear |
| Update Date | 17-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA. |
| Product | adenomatous polyposis coli protein isoform b |
| Comment | Summary: This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq]. Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. This variant also contains an alternate in-frame exon compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is longer than isoform a. Variants 2 and 3 encode the same isoform (b). |
| RefSeq | NP_001120982.1 |
| CDS | 194..8725 | Exon (1) | 1..67 | Exon (2) | 1..67 | Exon (3) | 68..175 | Exon (4) | 176..328 | Exon (5) | 329..413 | Exon (6) | 414..615 | Exon (7) | 616..724 | Exon (8) | 725..838 | Exon (9) | 839..922 | Exon (10) | 923..1027 | Exon (11) | 1028..1126 | Exon (12) | 1127..1505 | Exon (13) | 1506..1601 | Exon (14) | 1602..1741 | Exon (15) | 1742..1819 | Exon (16) | 1820..1936 | Exon (17) | 1937..2151 | Exon (18) | 2152..10838 |
| Translation | MAAASYDQLLKQVEALKMENSNLRQELEDNSNHLTKLETEASNMKEVLKQLQGSIEDEAM
ASSGQIDLLERLKELNLDSSNFPGVKLRSKMSLRSYGSREGSVSSRSGECSPVPMGSFPR
RGFVNGSRESTGYLEELEKERSLLLADLDKEEKEKDWYYAQLQNLTKRIDSLPLTENFSL
QTDMTRRQLEYEARQIRVAMEEQLGTCQDMEKRAQRRIARIQQIEKDILRIRQLLQSQAT
EAERSSQNKHETGSHDAERQNEGQGVGEINMATSGNGQGSTTRMDHETASVLSSSSTHSA
PRRLTSHLGTKVEMVYSLLSMLGTHDKDDMSRTLLAMSSSQDSCISMRQSGCLPLLIQLL
HGNDKDSVLLGNSRGSKEARARASAALHNIIHSQPDDKRGRREIRVLHLLEQIRAYCETC
WEWQEAHEPGMDQDKNPMPAPVEHQICPAVCVLMKLSFDEEHRHAMNELGGLQAIAELLQ
VDCEMYGLTNDHYSITLRRYAGMALTNLTFGDVANKATLCSMKGCMRALVAQLKSESEDL
QQVIASVLRNLSWRADVNSKKTLREVGSVKALMECALEVKKESTLKSVLSALWNLSAHCT
ENKADICAVDGALAFLVGTLTYRSQTNTLAIIESGGGILRNVSSLIATNEDHRQILRENN
CLQTLLQHLKSHSLTIVSNACGTLWNLSARNPKDQEALWDMGAVSMLKNLIHSKHKMIAM
GSAAALRNLMANRPAKYKDANIMSPGSSLPSLHVRKQKALEAELDAQHLSETFDNIDNLS
PKASHRSKQRHKQSLYGDYVFDTNRHDDNRSDNFNTGNMTVLSPYLNTTVLPSSSSSRGS
LDSSRSEKDRSLERERGIGLGNYHPATENPGTSSKRGLQISTTAAQIAKVMEEVSAIHTS
QEDRSSGSTTELHCVTDERNALRRSSAAHTHSNTYNFTKSENSNRTCSMPYAKLEYKRSS
NDSLNSVSSSDGYGKRGQMKPSIESYSEDDESKFCSYGQYPADLAHKIHSANHMDDNDGE
LDTPINYSLKYSDEQLNSGRQSPSQNERWARPKHIIEDEIKQSEQRQSRNQSTTYPVYTE
STDDKHLKFQPHFGQQECVSPYRSRGANGSETNRVGSNHGINQNVSQSLCQEDDYEDDKP
TNYSERYSEEEQHEEEERPTNYSIKYNEEKRHVDQPIDYSLKYATDIPSSQKQSFSFSKS
SSGQSSKTEHMSSSSENTSTPSSNAKRQNQLHPSSAQSRSGQPQKAATCKVSSINQETIQ
TYCVEDTPICFSRCSSLSSLSSAEDEIGCNQTTQEADSANTLQIAEIKEKIGTRSAEDPV
SEVPAVSQHPRTKSSRLQGSSLSSESARHKAVEFSSGAKSPSKSGAQTPKSPPEHYVQET
PLMFSRCTSVSSLDSFESRSIASSVQSEPCSGMVSGIISPSDLPDSPGQTMPPSRSKTPP
PPPQTAQTKREVPKNKAPTAEKRESGPKQAAVNAAVQRVQVLPDADTLLHFATESTPDGF
SCSSSLSALSLDEPFIQKDVELRIMPPVQENDNGNETESEQPKESNENQEKEAEKTIDSE
KDLLDDSDDDDIEILEECIISAMPTKSSRKAKKPAQTASKLPPPVARKPSQLPVYKLLPS
QNRLQPQKHVSFTPGDDMPRVYCVEGTPINFSTATSLSDLTIESPPNELAAGEGVRGGAQ
SGEFEKRDTIPTEGRSTDEAQGGKTSSVTIPELDDNKAEEGDILAECINSAMPKGKSHKP
FRVKKIMDQVQQASASSSAPNKNQLDGKKKKPTSPVKPIPQNTEYRTRVRKNADSKNNLN
AERVFSDNKDSKKQNLKNNSKVFNDKLPNNEDRVRGSFAFDSPHHYTPIEGTPYCFSRND
SLSSLDFDDDDVDLSREKAELRKAKENKESEAKVTSHTELTSNQQSANKTQAIAKQPINR
GQPKPILQKQSTFPQSSKDIPDRGAATDEKLQNFAIENTPVCFSHNSSLSSLSDIDQENN
NKENEPIKETEPPDSQGEPSKPQASGYAPKSFHVEDTPVCFSRNSSLSSLSIDSEDDLLQ
ECISSAMPKKKKPSRLKGDNEKHSPRNMGGILGEDLTLDLKDIQRPDSEHGLSPDSENFD
WKAIQEGANSIVSSLHQAAAAACLSRQASSDSDSILSLKSGISLGSPFHLTPDQEEKPFT
SNKGPRILKPGEKSTLETKKIESESKGIKGGKKVYKSLITGKVRSNSEISGQMKQPLQAN
MPSISRGRTMIHIPGVRNSSSSTSPVSKKGPPLKTPASKSPSEGQTATTSPRGAKPSVKS
ELSPVARQTSQIGGSSKAPSRSGSRDSTPSRPAQQPLSRPIQSPGRNSISPGRNGISPPN
KLSQLPRTSSPSTASTKSSGSGKMSYTSPGRQMSQQNLTKQTGLSKNASSIPRSESASKG
LNQMNNGNGANKKVELSRMSSTKSSGSESDRSERPVLVRQSTFIKEAPSPTLRRKLEESA
SFESLSPSSRPASPTRSQAQTPVLSPSLPDMSLSTHSSVQAGGWRKLPPNLSPTIEYNDG
RPAKRHDIARSHSESPSRLPINRSGTWKREHSKHSSSLPRVSTWRRTGSSSSILSASSES
SEKAKSEDEKHVNSISGTKQSKENQVSAKGTWRKIKENEFSPTNSTSQTVSSGATNGAES
KTLIYQMAPAVSKTEDVWVRIEDCPINNPRSGRSPTGNTPPVIDSVSEKANPNIKDSKDN
QAKQNVGNGSVPMRTVGLENRLNSFIQVDAPDQKGTEIKPGQNNPVPVSETNESSIVERT
PFSSSSSSKHSSPSGTVAARVTPFNYNPSPRKSSADSTSARPSQIPTPVNNNTKKRDSKT
DSTESSGTQSPKRHSGSYLVTSV
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| Gene Symbol | APC |
| Gene Synonym | BTPS2; DP2; DP2.5; DP3; GS |
| Chromosome | 5 |
| Locus Map | 5q21-q22 |
| All Transcripts | NM_001127510 , NM_000038 , NM_001127511 |
| Title | Analysis of the adenomatous polyposis coli (APC) gene in childhood and adolescent germ cell tumors . |
| Author | Okpanyi,V., Schneider,D.T., Zahn,S., Sievers,S., Calaminus,G., Nicholson,J.C., Palmer,R.D., Leuschner,I., Borkhardt,A. and Schonberger,S. |
| Journal | Pediatr Blood Cancer 56 (3), 384-391 (2011) |
| Title | Novel double-negative feedback loop between adenomatous polyposis coli and Musashi1 in colon epithelia . |
| Author | Spears,E. and Neufeld,K.L. |
| Journal | J. Biol. Chem. 286 (7), 4946-4950 (2011) |
| Title | Survivin-induced Aurora-B kinase activation: A mechanism by which . |
| Author | Zhang,T., Fields,J.Z., Opdenaker,L., Otevrel,T., Masuda,E., Palazzo,J.P., Isenberg,G.A., Goldstein,S.D., Brand,M. and Boman,B.M. |
| Journal | Am. J. Pathol. 177 (6), 2816-2826 (2010) |
| Title | Aberrant WNT/beta-catenin signaling in parathyroid carcinoma . |
| Author | Svedlund,J., Auren,M., Sundstrom,M., Dralle,H., Akerstrom,G., Bjorklund,P. and Westin,G. |
| Journal | Mol. Cancer 9, 294 (2010) |
| Title | Identification of an alternative 5' untranslated region of the adenomatous polyposis coli gene . |
| Author | Lambertz,S. and Ballhausen,W.G. |
| Journal | Hum. Genet. 90 (6), 650-652 (1993) |
| Title | Somatic mutation of the APC gene in gastric cancer: frequent mutations in very well differentiated adenocarcinoma and signet-ring cell carcinoma . |
| Author | Nakatsuru,S., Yanagisawa,A., Ichii,S., Tahara,E., Kato,Y., Nakamura,Y. and Horii,A. |
| Journal | Hum. Mol. Genet. 1 (8), 559-563 (1992) |
| Title | Disruption of the APC gene by a retrotransposal insertion of L1 sequence in a colon cancer . |
| Author | Miki,Y., Nishisho,I., Horii,A., Miyoshi,Y., Utsunomiya,J., Kinzler,K.W., Vogelstein,B. and Nakamura,Y. |
| Journal | Cancer Res. 52 (3), 643-645 (1992) |
| Title | Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients . |
| Author | Nagase,H., Miyoshi,Y., Horii,A., Aoki,T., Petersen,G.M., Vogelstein,B., Maher,E., Ogawa,M., Maruyama,M., Utsunomiya,J. et al. |
| Journal | Hum. Mutat. 1 (6), 467-473 (1992) |
| Title | Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients . |
| Author | Nishisho,I., Nakamura,Y., Miyoshi,Y., Miki,Y., Ando,H., Horii,A., Koyama,K., Utsunomiya,J., Baba,S. and Hedge,P. |
| Journal | Science 253 (5020), 665-669 (1991) |
| Title | Identification of FAP locus genes from chromosome 5q21 . |
| Author | Kinzler,K.W., Nilbert,M.C., Su,L.K., Vogelstein,B., Bryan,T.M., Levy,D.B., Smith,K.J., Preisinger,A.C., Hedge,P., McKechnie,D. et al. |
| Journal | Science 253 (5020), 661-665 (1991) |
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