Property Summary

NCBI Gene PubMed Count 657
Grant Count 329
R01 Count 204
Funding $43,135,468.15
PubMed Score 64.58
PubTator Score 916.70

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (65)

Disease Z-score Confidence
Familial adenomatous polyposis 31 4.276 2.1
Intestinal atresia 7 3.064 1.5
Aberrant Crypt Foci 3
Adenocarcinoma 115
Adenoma 165 1.0
Adenoma of large intestine 1
Adenomatous Polyposis Coli 10
Adenomatous Polyps 2
Animal Mammary Neoplasms 136
Autistic Disorder 320
BRAIN TUMOR-POLYPOSIS SYNDROME 2 (disord... 1 
Breast Cancer, Familial 12
Cancer 2,346 4.0
Carcinoma 2,147 2.0
Colon Carcinoma 25
Colonic Neoplasms 126
Colorectal Neoplasms 217
Connective tissue cancer 9 1.0
Connective tissue disease 59 1.0
Desmoid Tumor Caused By Somatic Mutation 2
Desmoid disease, hereditary 2
Eye Abnormalities 15
Fibromatosis, Abdominal 1
Fibromatosis, Aggressive 2
Gardner Syndrome 1
Gastrointestinal Neoplasms 4
Hepatoblastoma 17
Hereditary Nonpolyposis Colorectal Neopl... 8 
Hyperlipidemia 25
Inflammatory Bowel Diseases 87
Intellectual disability 573
Intestinal Neoplasms 11
Intestinal Polyps 5
Kidney cancer 118 2.0
Liver carcinoma 217
Lung Neoplasms 171
Mesothelioma 40
Neoplastic Cell Transformation 81
Neoplastic Syndromes, Hereditary 48
Pick disease 1,893
Polyposis, Adenomatous Intestinal 1
Prostatic Neoplasms 471
Rectal Neoplasms 7
Stomach Carcinoma 5
Stomach Neoplasms 282
Stomach cancer 6 1.0
Syndactyly Cenani Lenz type 2
Turcot syndrome (disorder) 5
adrenocortical carcinoma 1,427
astrocytic glioma 2,241
atypical teratoid / rhabdoid tumor 4,369
colon cancer 1,475
diabetes mellitus 1,663
ependymoma 2,514
glioblastoma 5,572
group 3 medulloblastoma 2,254
medulloblastoma 1,524
medulloblastoma, large-cell 6,234
non-small cell lung carcinoma 413
oligodendroglioma 2,849
ovarian cancer 8,484
pediatric high grade glioma 2,712
pilocytic astrocytoma 3,086
primitive neuroectodermal tumor 3,031
psoriasis 6,685

Expression

  Differential Expression (16)

Disease log2 FC p
glioblastoma -1.800 0.000
astrocytic glioma 1.500 0.024
oligodendroglioma 1.400 0.027
psoriasis -1.300 0.000
ependymoma -1.100 0.000
group 3 medulloblastoma -1.700 0.006
atypical teratoid / rhabdoid tumor -1.900 0.000
medulloblastoma, large-cell -2.100 0.000
primitive neuroectodermal tumor -1.300 0.002
adrenocortical carcinoma 1.297 0.000
colon cancer -1.200 0.005
diabetes mellitus -1.100 0.015
pediatric high grade glioma -1.500 0.000
pilocytic astrocytoma -1.300 0.000
Pick disease 1.600 0.000
ovarian cancer 1.100 0.016

Synonym

Accession P25054 D3DT03 Q15162 Q15163 Q93042 Protein APC
Symbols GS
DP2
DP3
BTPS2
DP2.5
PPP1R46

Gene

APC

PDB

2RQU   1DEB   1EMU   1JPP   1M5I   1T08   1TH1   1V18   3AU3   3NMW   3NMX   3NMZ   3QHE   3RL7   3RL8   3T7U   4G69   4YJE   4YJL   4YK6  

Gene RIF (585)

PMID Text
26884349 Studied promoter methylation of ITF2 and APC and associated microsatellite instability in two case-case studies nested in colorectal cancer.
26681652 shows that RAR-beta methylation detected in lung tissue may be used as a predictive marker for non-small cell lung cancer diagnosis and that APC methylation in tumor sample may be a useful marker
26658612 Full-length APC promotes assembly of the Miro-1/Milton-2 complex.
26650777 As depicted in Figure 3, APC (25%) followed by KRAS (20%), TP53 (14%), and PIK3CA (11%) were the most frequently mutated genes.
26625971 two novel mutations in APC gene identified in Chinese families with familial adenomatous polyposis.
26613750 in 25% (5/20) of patients with colorectal adenomatous polyposis, somatic mosaicism of a pathogenic APC mutation was identified as underlying cause of the disease; data indicate a high prevalence of pathogenic mosaic APC mutations below the detection thresholds of routine diagnostics in adenomatous polyposis
26556314 While binding to gamma-tubulin may help target APC to the site of microtubule nucleation complexes, additional C-terminal sequences of APC are required to stimulate and stabilize microtubule growth.
26511139 Expression of APC is decreased in mutation negative cases and this appears to be a promising indicator of FAP predisposition, while for MUTYH gene, mutation is associated to reduced mRNA expression.
26447891 mutations are rare in Taiwanese patients with oral squamous cell carcinoma in Taiwanese patients
26446593 Our data represent the first comprehensive study delineating the mutation spectra of both APC and MUTYH in Hungarian familial adenomatous polyposis families
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AA Sequence

MAAASYDQLLKQVEALKMENSNLRQELEDNSNHLTKLETEASNMKEVLKQLQGSIEDEAMASSGQIDLLE      1 - 70
RLKELNLDSSNFPGVKLRSKMSLRSYGSREGSVSSRSGECSPVPMGSFPRRGFVNGSRESTGYLEELEKE     71 - 140
RSLLLADLDKEEKEKDWYYAQLQNLTKRIDSLPLTENFSLQTDMTRRQLEYEARQIRVAMEEQLGTCQDM    141 - 210
EKRAQRRIARIQQIEKDILRIRQLLQSQATEAERSSQNKHETGSHDAERQNEGQGVGEINMATSGNGQGS    211 - 280
TTRMDHETASVLSSSSTHSAPRRLTSHLGTKVEMVYSLLSMLGTHDKDDMSRTLLAMSSSQDSCISMRQS    281 - 350
GCLPLLIQLLHGNDKDSVLLGNSRGSKEARARASAALHNIIHSQPDDKRGRREIRVLHLLEQIRAYCETC    351 - 420
WEWQEAHEPGMDQDKNPMPAPVEHQICPAVCVLMKLSFDEEHRHAMNELGGLQAIAELLQVDCEMYGLTN    421 - 490
DHYSITLRRYAGMALTNLTFGDVANKATLCSMKGCMRALVAQLKSESEDLQQVIASVLRNLSWRADVNSK    491 - 560
KTLREVGSVKALMECALEVKKESTLKSVLSALWNLSAHCTENKADICAVDGALAFLVGTLTYRSQTNTLA    561 - 630
IIESGGGILRNVSSLIATNEDHRQILRENNCLQTLLQHLKSHSLTIVSNACGTLWNLSARNPKDQEALWD    631 - 700
MGAVSMLKNLIHSKHKMIAMGSAAALRNLMANRPAKYKDANIMSPGSSLPSLHVRKQKALEAELDAQHLS    701 - 770
ETFDNIDNLSPKASHRSKQRHKQSLYGDYVFDTNRHDDNRSDNFNTGNMTVLSPYLNTTVLPSSSSSRGS    771 - 840
LDSSRSEKDRSLERERGIGLGNYHPATENPGTSSKRGLQISTTAAQIAKVMEEVSAIHTSQEDRSSGSTT    841 - 910
ELHCVTDERNALRRSSAAHTHSNTYNFTKSENSNRTCSMPYAKLEYKRSSNDSLNSVSSSDGYGKRGQMK    911 - 980
PSIESYSEDDESKFCSYGQYPADLAHKIHSANHMDDNDGELDTPINYSLKYSDEQLNSGRQSPSQNERWA    981 - 1050
RPKHIIEDEIKQSEQRQSRNQSTTYPVYTESTDDKHLKFQPHFGQQECVSPYRSRGANGSETNRVGSNHG   1051 - 1120
INQNVSQSLCQEDDYEDDKPTNYSERYSEEEQHEEEERPTNYSIKYNEEKRHVDQPIDYSLKYATDIPSS   1121 - 1190
QKQSFSFSKSSSGQSSKTEHMSSSSENTSTPSSNAKRQNQLHPSSAQSRSGQPQKAATCKVSSINQETIQ   1191 - 1260
TYCVEDTPICFSRCSSLSSLSSAEDEIGCNQTTQEADSANTLQIAEIKEKIGTRSAEDPVSEVPAVSQHP   1261 - 1330
RTKSSRLQGSSLSSESARHKAVEFSSGAKSPSKSGAQTPKSPPEHYVQETPLMFSRCTSVSSLDSFESRS   1331 - 1400
IASSVQSEPCSGMVSGIISPSDLPDSPGQTMPPSRSKTPPPPPQTAQTKREVPKNKAPTAEKRESGPKQA   1401 - 1470
AVNAAVQRVQVLPDADTLLHFATESTPDGFSCSSSLSALSLDEPFIQKDVELRIMPPVQENDNGNETESE   1471 - 1540
QPKESNENQEKEAEKTIDSEKDLLDDSDDDDIEILEECIISAMPTKSSRKAKKPAQTASKLPPPVARKPS   1541 - 1610
QLPVYKLLPSQNRLQPQKHVSFTPGDDMPRVYCVEGTPINFSTATSLSDLTIESPPNELAAGEGVRGGAQ   1611 - 1680
SGEFEKRDTIPTEGRSTDEAQGGKTSSVTIPELDDNKAEEGDILAECINSAMPKGKSHKPFRVKKIMDQV   1681 - 1750
QQASASSSAPNKNQLDGKKKKPTSPVKPIPQNTEYRTRVRKNADSKNNLNAERVFSDNKDSKKQNLKNNS   1751 - 1820
KVFNDKLPNNEDRVRGSFAFDSPHHYTPIEGTPYCFSRNDSLSSLDFDDDDVDLSREKAELRKAKENKES   1821 - 1890
EAKVTSHTELTSNQQSANKTQAIAKQPINRGQPKPILQKQSTFPQSSKDIPDRGAATDEKLQNFAIENTP   1891 - 1960
VCFSHNSSLSSLSDIDQENNNKENEPIKETEPPDSQGEPSKPQASGYAPKSFHVEDTPVCFSRNSSLSSL   1961 - 2030
SIDSEDDLLQECISSAMPKKKKPSRLKGDNEKHSPRNMGGILGEDLTLDLKDIQRPDSEHGLSPDSENFD   2031 - 2100
WKAIQEGANSIVSSLHQAAAAACLSRQASSDSDSILSLKSGISLGSPFHLTPDQEEKPFTSNKGPRILKP   2101 - 2170
GEKSTLETKKIESESKGIKGGKKVYKSLITGKVRSNSEISGQMKQPLQANMPSISRGRTMIHIPGVRNSS   2171 - 2240
SSTSPVSKKGPPLKTPASKSPSEGQTATTSPRGAKPSVKSELSPVARQTSQIGGSSKAPSRSGSRDSTPS   2241 - 2310
RPAQQPLSRPIQSPGRNSISPGRNGISPPNKLSQLPRTSSPSTASTKSSGSGKMSYTSPGRQMSQQNLTK   2311 - 2380
QTGLSKNASSIPRSESASKGLNQMNNGNGANKKVELSRMSSTKSSGSESDRSERPVLVRQSTFIKEAPSP   2381 - 2450
TLRRKLEESASFESLSPSSRPASPTRSQAQTPVLSPSLPDMSLSTHSSVQAGGWRKLPPNLSPTIEYNDG   2451 - 2520
RPAKRHDIARSHSESPSRLPINRSGTWKREHSKHSSSLPRVSTWRRTGSSSSILSASSESSEKAKSEDEK   2521 - 2590
HVNSISGTKQSKENQVSAKGTWRKIKENEFSPTNSTSQTVSSGATNGAESKTLIYQMAPAVSKTEDVWVR   2591 - 2660
IEDCPINNPRSGRSPTGNTPPVIDSVSEKANPNIKDSKDNQAKQNVGNGSVPMRTVGLENRLNSFIQVDA   2661 - 2730
PDQKGTEIKPGQNNPVPVSETNESSIVERTPFSSSSSSKHSSPSGTVAARVTPFNYNPSPRKSSADSTSA   2731 - 2800
RPSQIPTPVNNNTKKRDSKTDSTESSGTQSPKRHSGSYLVTSV                              2801 - 2843
//

Text Mined References (671)

PMID Year Title
26884349 2016 Promoter methylation of ITF2, but not APC, is associated with microsatellite instability in two populations of colorectal cancer patients.
26681652 2016 Promoter methylation of APC and RAR-? genes as prognostic markers in non-small cell lung cancer (NSCLC).
26658612 2016 APC binds the Miro/Milton motor complex to stimulate transport of mitochondria to the plasma membrane.
26650777 2016 Genetic heterogeneity in synchronous colorectal cancers impacts genotyping approaches and therapeutic strategies.
26625971 2016 Novel and reported APC germline mutations in Chinese patients with familial adenomatous polyposis.
26613750 2016 Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases.
26556314 2016 APC functions at the centrosome to stimulate microtubule growth.
26511139 2015 Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition.
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
26447891 2016 High-resolution Melting Analysis for Gene Scanning of Adenomatous Polyposis Coli (APC) Gene With Oral Squamous Cell Carcinoma Samples.
More...