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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

APC Gene

protein-coding   GIFtS: 72
GCID: GC05P112101

Adenomatous Polyposis Coli

(Previous name: adenomatosis polyposis coli)
Microbiology & Infectious Diseases Congress
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at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Adenomatous Polyposis Coli1 2     DP22
Deleted In Polyposis 2.52 3     DP32
DP2.52 3     PPP1R462
BTPS22 5     Adenomatosis Polyposis Coli Tumor Suppressor2
GS2 5     Adenomatous Polyposis Coli Protein2
Adenomatosis Polyposis Coli1     Protein Phosphatase 1, Regulatory Subunit 462
Protein Phosphatase 11     Protein APC3
Regulatory Subunit 461     FPC5

External Ids:    HGNC: 5831   Entrez Gene: 3242   Ensembl: ENSG000001349827   OMIM: 6117315   UniProtKB: P250543   

Export aliases for APC gene to outside databases

Previous GC identifers: GC05P111687 GC05P112537 GC05P112074 GC05P112149 GC05P107222


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for APC Gene:
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, Jul 2008)

GeneCards Summary for APC Gene: 
APC (adenomatous polyposis coli) is a protein-coding gene. Diseases associated with APC include familial adenomatous polyposis, and colon cancer, and among its related super-pathways are Wnt signaling pathway and Regulation of actin cytoskeleton. GO annotations related to this gene include beta-catenin binding and protein kinase binding. An important paralog of this gene is APC2.

UniProtKB/Swiss-Prot: APC_HUMAN, P25054
Function: Tumor suppressor. Promotes rapid degradation of CTNNB1 and participates in Wnt signaling as a negative
regulator. APC activity is correlated with its phosphorylation state. Activates the GEF activity of SPATA13 and
ARHGEF4. Plays a role in hepatocyte growth factor (HGF)-induced cell migration. Required for MMP9 up-regulation
via the JNK signaling pathway in colorectal tumor cells. Acts as a mediator of ERBB2-dependent stabilization of
microtubules at the cell cortex. It is required for the localization of MACF1 to the cell membrane and this
localization of MACF1 is critical for its function in microtubule stabilization

Gene Wiki entry for APC (Adenomatous polyposis coli) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_034772.6  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the APC gene promoter:
         TBP   STAT5B   Spz1   NF-1   NF-1/L   C/EBPbeta   MyoD   TFIID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): APC promoter sequence
   Search SABiosciences Chromatin IP Primers for APC

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat APC


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q21-q22   Ensembl cytogenetic band:  5q22.2   HGNC cytogenetic band: 5q21-q22

APC Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
APC gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P112101:  view genomic region     (about GC identifiers)

Start:
112,043,195 bp from pter      End:
112,181,936 bp from pter
Size:
138,742 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: APC_HUMAN, P25054 (See protein sequence)
Recommended Name: Adenomatous polyposis coli protein  
Size: 2843 amino acids; 311646 Da
Subunit: Forms homooligomers and heterooligomers with APC2. Interacts with DIAPH1 and DIAPH2 (By similarity).
Interacts with PDZ domains of DLG1 and DLG3. Associates with catenins. Binds axin. Interacts with ARHGEF4 (via
N-terminus). Interacts with MAPRE1 (via C-terminus); probably required for APC targeting to the growing
microtubule plus ends. Interacts with MAPRE2 and MAPRE3 (via C-terminus). Found in a complex consisting of
ARHGEF4, APC and CTNNB1. Interacts with SCRIB; may mediate APC targeting to adherens junctions of epithelial
cells. Interacts with SPATA13 (via N-terminus and SH3 domain). Interacts with ASAP1 (via SH3 domain). Found in a
complex composed of MACF1, APC, AXIN1, CTNNB1 and GSK3B (By similarity). Interacts at the cell membrane with
AMER1 and AMER2 (via ARM repeats)
Subcellular location: Cell junction, adherens junction. Cytoplasm, cytoskeleton. Cell projection, lamellipodium.
Cell projection, ruffle membrane. Cytoplasm. Cell membrane. Note=Associated with the microtubule network at the
growing distal tip of microtubules. Accumulates in the lamellipodium and ruffle membrane in response to
hepatocyte growth factor (HGF) treatment. The MEMO1-RHOA-DIAPH1 signaling pathway controls localization of the
phosophorylated form to the cell membrane
Miscellaneous: APC mutations have led to some interesting observations. (1) the great majority of the mutations
found to date would result in truncation of the APC product. (2) almost all the mutations have occurred within
the first half of the coding sequence, and somatic mutations in colorectal tumors are further clustered in a
particular region, called MCR (mutation cluster region). (3) most identified point mutations in the APC gene are
transitions from cytosine to other nucleotides. (4) the location of germline mutations tends to correlate with
the number of colorectal polyps in FAP patients. Inactivation of both alleles of the APC gene seems to be
required as an early event to develop most adenomas and carcinomas in the colon and rectum as well as some of
those in the stomach
6/17 PDB 3D structures from and Proteopedia for APC (see all 17):
1DEB (3D)        1EMU (3D)        1JPP (3D)        1M5I (3D)        1T08 (3D)        1TH1 (3D)    
Secondary accessions: D3DT03 Q15162 Q15163 Q93042
Alternative splicing: 2 isoforms:  P25054-1   P25054-2   

Explore the universe of human proteins at neXtProt for APC: NX_P25054

Explore proteomics data for APC at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated by GSK3B
  • UniProtKB: Ubiquitinated, leading to its degradation by the proteasome. Ubiquitination is facilitated by Axin.
    Deubiquitinated by ZRANB1/TRABID
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P25054

  • APC Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    APC Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_000029.2  NP_001120982.1  NP_001120983.2  

    ENSEMBL proteins: 
     ENSP00000426541   ENSP00000423224   ENSP00000424265   ENSP00000257430   ENSP00000427089  
     ENSP00000423828   ENSP00000473355   ENSP00000413133  
    Reactome Protein details: P25054
    Human Recombinant Protein Products for APC: 
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    Novus Biologicals APC Protein
    Novus Biologicals APC Lysates
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for APC 

    Gene Ontology (GO): 5/19 cellular component terms (GO ID links to tree view) (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000776kinetochore IDA11283619
    GO:0005634nucleus IDA11035805
    GO:0005737cytoplasm IDA11035805
    GO:0005813centrosome IDA11283619
    GO:0005829cytosol TAS--

    APC for ontologies           About GeneDecksing



    APC Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ARMC: Armadillo repeat containing
    PPP1R: Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits

    5/11 InterPro protein domains (see all 11):
     IPR026818 Apc_fam
     IPR011989 ARM-like
     IPR009224 SAMP
     IPR000225 Armadillo
     IPR026836 APC

    Graphical View of Domain Structure for InterPro Entry P25054

    ProtoNet protein and cluster: P25054

    1 Blocks protein domain: IPB000225 Armadillo repeat

    UniProtKB/Swiss-Prot: APC_HUMAN, P25054
    Domain: The microtubule tip localization signal (MtLS) motif; mediates interaction with MAPRE1 and targeting to
    the growing microtubule plus ends (By similarity)
    Similarity: Belongs to the adenomatous polyposis coli (APC) family
    Similarity: Contains 7 ARM repeats


    APC for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: APC_HUMAN, P25054
    Function: Tumor suppressor. Promotes rapid degradation of CTNNB1 and participates in Wnt signaling as a negative
    regulator. APC activity is correlated with its phosphorylation state. Activates the GEF activity of SPATA13 and
    ARHGEF4. Plays a role in hepatocyte growth factor (HGF)-induced cell migration. Required for MMP9 up-regulation
    via the JNK signaling pathway in colorectal tumor cells. Acts as a mediator of ERBB2-dependent stabilization of
    microtubules at the cell cortex. It is required for the localization of MACF1 to the cell membrane and this
    localization of MACF1 is critical for its function in microtubule stabilization

         Genatlas biochemistry entry for APC:
    multidomain protein,binding beta-catenin and regulating free beta-catenin level,involved in cell adhesion and
    active cell migration,mutated in adenomatous polyposis coli,colon and rectum carcinoma non polyposis,modulating
    the frequency and classes of mutation leading to colon polyps

         Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding IPI10656683
    GO:0008013beta-catenin binding IPI10773885
    GO:0008017microtubule binding IDA11166179
    GO:0019887protein kinase regulator activity IDA11972058
         
    APC for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for APC:
     Decreased POU5F1-GFP protein e  Decreased focal adhesion (FA)   Upregulation of Wnt/beta-caten 

         15/27 MGI mutant phenotypes (inferred from 25 alleles(MGI details for Apc) (see all 27):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     digestive/alimentary  embryogenesis  endocrine/exocrine gland  growth/size  hearing/vestibular/ear 
     hematopoietic system  homeostasis/metabolism  immune system  integument  limbs/digits/tail 

    APC for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for APC: Apctm1.1Tyj Apctm4Mmt Apctm1Cip Apctm1Rak Apctm1.1Tno Apctm1Mmt
                                                         Apctm1Hsa Apctm1.1Ecrm Apctm2.1Rak

       inGenious Targeting Laboratory - Custom generated mouse model solutions for APC 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for APC 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for APC 

    miRNA
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    miRTarBase miRNAs that target APC:
    hsa-mir-210 (MIRT003183), hsa-mir-155 (MIRT001207)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat APC
    8/112 QIAGEN miScript miRNA Assays for microRNAs that regulate APC (see all 112):
    hsa-miR-579 hsa-miR-520e hsa-miR-300 hsa-miR-374a hsa-miR-519a hsa-miR-3916 hsa-miR-502-3p hsa-miR-3161
    SwitchGear 3'UTR luciferase reporter plasmidAPC 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APC


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for APC About   (see all 37)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Wnt signaling pathway
    Wnt signaling pathway0.40
    Wnt Signaling Pathway NetPath0.37
    Wnt Signaling Pathway0.40
    2Regulation of Actin Cytoskeleton
    Regulation of Actin Cytoskeleton0.57
    Regulation of actin cytoskeleton0.57
    3Wnt Signaling Pathway
    Wnt Signaling Pathway0.55
    DNA damage response (only ATM dependent)0.32
    Wnt Signaling Pathway and Pluripotency0.55
    4CDK-mediated phosphorylation and removal of Cdc6
    Degradation of beta-catenin by the destruction complex0.75
    Apoptosis0.39
    5Apoptotic cleavage of cellular proteins
    Apoptotic cleavage of cellular proteins0.73
    Apoptotic execution phase0.73

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for APC
        Selected targets of p53

    1 R&D Systems Pathway for APC
        Wnt Signaling Pathway

    5/11 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for APC (see all 11)
        Factors Promoting Cardiogenesis in Vertebrates
    Molecular Mechanisms of Cancer
    G12-G13 in Cellular Signaling
    Colorectal Cancer Metastasis
    Glioblastoma Multiforme

    1 Cell Signaling Technology (CST) Pathway for APC
        Wnt / Hedgehog / Notch

    5/17 BioSystems Pathways for APC (see all 17)
        Wnt Signaling Pathway
    DNA damage response (only ATM dependent)
    Wnt Signaling Pathway and Pluripotency
    Irinotecan Pathway
    Gastric cancer network 1

    5/7        Reactome Pathways for APC (see all 7)
        Apoptotic execution phase
    Signaling by Wnt
    Apoptotic cleavage of cellular proteins
    Signal Transduction
    Beta-catenin phosphorylation cascade


    5/9         Kegg Pathways  (Kegg details for APC) (see all 9):
        Wnt signaling pathway
    Hippo signaling pathway
    Regulation of actin cytoskeleton
    HTLV-I infection
    Pathways in cancer


    APC for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for APC

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/480 Interacting proteins for APC (P250541, 2, 3 ENSP000002574304) via UniProtKB, MINT, STRING, and/or I2D (see all 480)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CTNNB1P352221, 2, 3, ENSP000003444564EBI-727707,EBI-491549 MINT-4508229 I2D: score=8 STRING: ENSP00000344456
    DVL1O146402, 3, ENSP000003681694MINT-7897032 MINT-7897055 MINT-7897075 MINT-7897100 I2D: score=1 STRING: ENSP00000368169
    DVL2O146412, 3, ENSP000000053404MINT-7890898 MINT-7897032 MINT-7897075 I2D: score=2 STRING: ENSP00000005340
    PXNP490232, 3, ENSP000002283074MINT-7891130 MINT-7897100 I2D: score=2 STRING: ENSP00000228307
    MAPRE1Q156911, 3, ENSP000003647214EBI-727707,EBI-1004115 I2D: score=5 STRING: ENSP00000364721
    About this table

    Gene Ontology (GO): 5/59 biological process terms (GO ID links to tree view) (see all 59):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000281mitotic cytokinesis IMP17570218
    GO:0001822kidney development IEA--
    GO:0001942hair follicle development IEA--
    GO:0006461protein complex assembly IDA16188939
    GO:0006915apoptotic process TAS--

    APC for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    APC for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for APC

    10/88 Novoseek inferred chemical compound relationships for APC gene (see all 88)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    af/ap 80.5 4 10494086 (2), 11786778 (1), 15623495 (1)
    crcs 74.3 10 11270422 (1), 17704924 (1), 11751382 (1), 14578138 (1) (see all 8)
    sulindac 60.9 8 11535846 (3), 12663524 (2), 19755659 (1), 8707116 (1)
    phip 60.7 17 19628463 (2), 9202752 (2), 11181456 (2), 9202738 (1) (see all 11)
    glycogen 59.9 144 19339242 (9), 9003374 (5), 10233043 (5), 12829248 (5) (see all 55)
    pphp 48.9 2 1621772 (1)
    1-hydroxyanthraquinone 48 3 9433483 (2), 10204808 (1)
    samp 47.7 3 10346819 (1), 10021369 (1), 10966653 (1)
    5-aza-2'deoxycytidine 46.1 5 17065059 (1), 15087381 (1), 15225415 (1), 18058533 (1) (see all 5)
    adenylate 38.1 15 2167212 (1), 10421220 (1), 1637317 (1), 8131796 (1) (see all 15)

    Search CenterWatch for drugs/clinical trials and news about APC

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for APC gene (3 alternative transcripts): 
    NM_000038.5  NM_001127510.2  NM_001127511.2  

    Unigene Cluster for APC:

    Adenomatous polyposis coli
    Hs.158932  [show with all ESTs]
    Unigene Representative Sequence: NM_001127510
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000509732 ENST00000505350 ENST00000507379 ENST00000508624 ENST00000257430(uc003kpz.4 uc003kpy.4 uc010jbz.3 uc010jca.3)
    ENST00000508376 ENST00000512211 ENST00000506342 ENST00000502371 ENST00000504915
    ENST00000505084 ENST00000514164 ENST00000457016(uc011cvt.2)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    hsa-miR-579 hsa-miR-520e hsa-miR-300 hsa-miR-374a hsa-miR-519a hsa-miR-3916 hsa-miR-502-3p hsa-miR-3161
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    Additional mRNA sequence: 

    AB210001.1 AF038181.1 AK289567.1 AK294544.1 AK309033.1 BC034955.1 BC056268.1 M73548.1 
    M74088.1 S56365.1 S67787.1 S67788.1 S67789.1 

    15 DOTS entries:

    DT.99981468  DT.120809542  DT.40310104  DT.95121675  DT.99962531  DT.119384  DT.95374795  DT.120809704 
    DT.120809770  DT.452608  DT.449103  DT.91757887  DT.100721411  DT.432665  DT.91950191 

    24/445 AceView cDNA sequences (see all 445):

    F04853 H08657 T72565 BX100792 AA829998 R39002 BM930344 CB055159 
    F12337 BM723345 CA313732 F04846 BM683808 BF590515 BM977243 NM_005083 
    CB158849 BU618167 BI333071 BQ423807 BU629028 BM791285 T05594 BQ898700 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for APC    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17
    SP1:                                                                                                              -               
    SP2:              -                                                                                                               
    SP3:                                                                                                                              


    ECgene alternative splicing isoforms for APC

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    APC expression in normal human tissues (normalized intensities)      APC embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    APC Expression
    About this image


    APC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
             Retina
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Myelinating Oligodendrocyte Cells Forebrain White Matter
     
     Paraxial Mesoderm (Gastrulation Derivatives)
             Paraxial Mesoderm Cells Paraxial Mesoderm
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Liver (Hepatobiliary System)
             Periportal Hepatocytes Liver Lobule

    See APC Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for APC

    SOURCE GeneReport for Unigene cluster: Hs.158932

    UniProtKB/Swiss-Prot: APC_HUMAN, P25054
    Tissue specificity: Expressed in a variety of tissues

        SABiosciences Expression via Pathway-Focused PCR Arrays including APC (see all 15): 
              Parkinson's Disease in human mouse rat
              Oncogenes & Tumor Suppressor Genes in human mouse rat
              Lung Cancer in human mouse rat
              Multiple Sclerosis in human mouse rat
              WNT Signaling Pathway in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APC

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for APC gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Apc1 , 5 adenomatosis polyposis coli1, 5 87.55(n)1
    90.8(a)1
      18 (18.53 cM)5
    117891  NM_007462.31  NP_031488.21 
     342209245 
    chicken
    (Gallus gallus)
    Aves APC1 adenomatous polyposis coli 80.69(n)
    85.58(a)
      415607  XM_001233410.2  XP_001233411.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    APC6
    Uncharacterized protein
    97(a)
    83(a)
    1 ↔ many
    1 ↔ many
    GL343193.1(6920773-6928072)
    GL343193.1(6928765-6980589)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.84362 Xenopus laevis adenomatous polyposis coli mRNA, complete more 78.78(n)    U64442.1 
    zebrafish
    (Danio rerio)
    Actinopterygii apc1 adenomatosis polyposis coli 66.81(n)
    70.85(a)
      386762  NM_001143840.1  NP_001137312.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Apc3 frizzled-2 receptor signaling pathway
    microtubule more
    54(a)
    (best of 2)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea apr-16
    Adenomatous polyposis coli protein-related protein...
    14(a)
    1 → many
    I(8050043-8055474)


    ENSEMBL Gene Tree for APC (if available)
    TreeFam Gene Tree for APC (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for APC gene
    APC22  ENSG000002588642  
    2 SIMAP similar genes for APC using alignment to 26 protein entries:     APC_HUMAN (see all proteins):
    APC variant protein    APC2

    APC for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4088 SNPs in APC are shown (see all 4088)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0096144
    Familial adenomatous polyposis (FAP)4--see VAR_0096142 S G mis40--------
    VAR_0096164
    Familial adenomatous polyposis (FAP)4--see VAR_0096162 A P mis40--------
    VAR_0096134
    Familial adenomatous polyposis (FAP)4--see VAR_0096132 R W mis40--------
    VAR_0050454
    Gastric cancer (GASC)4--see VAR_0050452 F S mis40--------
    VAR_0050504
    Gastric cancer (GASC)4--see VAR_0050502 G E mis40--------
    VAR_0050514
    Familial adenomatous polyposis (FAP)4--see VAR_0050512 T A mis40--------
    VAR_0050354
    Gastric cancer (GASC)4--see VAR_0050352 G C mis40--------
    VAR_0176554
    Medulloblastoma (MDB)4--see VAR_0176552 S G mis40--------
    VAR_0050524
    Gastric cancer (GASC)4--see VAR_0050522 V A mis40--------
    VAR_0050374
    Colorectal tumor4--see VAR_0050372 S Y mis40--------

    HapMap Linkage Disequilibrium report for APC (112043195 - 112181936 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for APC:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv4959CNV Insertion18451855
    nsv462387CNV Loss19166990
    nsv830450CNV Gain17160897


    Human Gene Mutation Database (HGMD): APC

    Locus Specific Mutation Databases (LSDB): APC
    5/63 SABiosciences Cancer Mutation PCR Assays for APC (see all 63):
    Cosmic IdAA Change
    19033p.P1372fs*2
    18999p.L1488fs*19
    41618p.L1488fs*18
    25826p.S1346*
    18822p.E1408*
    5/10 SABiosciences Cancer Mutation PCR Arrays containing APC (see all 10):
    Breast Cancer
    Cancer Comprehensive Panel 384HT
    APC/CTNNB1 Pathway
    Soft Tissue Tumors
    Tumor Suppressor Panel 384HT
    2 SABiosciences qBiomarker Copy Number PCR Arrays containing APC:
    Oncogenes & Tumor Suppressor Genes 384HC
    WNT Signaling
    SeqTarget long-range PCR primers for resequencing APC
    DNA2.0 Custom Variant and Variant Library Synthesis for APC

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611731   
    OMIM disorders: 175100  613659  114550  135290  114500  
    UniProtKB/Swiss-Prot: APC_HUMAN, P25054
  • Familial adenomatous polyposis (FAP) [MIM:175100]: A cancer predisposition syndrome characterized by
    adenomatous polyps of the colon and rectum, but also of upper gastrointestinal tract (ampullary, duodenal and
    gastric adenomas). This is a viciously premalignant disease with one or more polyps progressing through dysplasia
    to malignancy in untreated gene carriers with a median age at diagnosis of 40 years. Note=The disease is caused
    by mutations affecting the gene represented in this entry
  • Hereditary desmoid disease (HDD) [MIM:135290]: Autosomal dominant trait with 100% penetrance and possible
    variable expression among affected relatives. HDD patients show multifocal fibromatosis of the paraspinal
    muscles, breast, occiput, arms, lower ribs, abdominal wall, and mesentery. Desmoid tumors appears also as a
    complication of familial adenomatous polyposis. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Medulloblastoma (MDB) [MIM:155255]: Malignant, invasive embryonal tumor of the cerebellum with a
    preferential manifestation in children. Note=The gene represented in this entry may be involved in disease
    pathogenesis
  • Mismatch repair cancer syndrome (MMRCS) [MIM:276300]: Autosomal dominant disorder characterized by
    malignant tumors of the brain associated with multiple colorectal adenomas. Skin features include sebaceous
    cysts, hyperpigmented and cafe au lait spots. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Gastric cancer (GASC) [MIM:613659]: A malignant disease which starts in the stomach, can spread to the
    esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It
    also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to
    adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types
    are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated
    infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually
    exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in
    sporadic disease. Note=The gene represented in this entry may be involved in disease pathogenesis
  • Hepatocellular carcinoma (HCC) [MIM:114550]: A primary malignant neoplasm of epithelial liver cells. The
    major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV)
    infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes. Note=The
    gene represented in this entry may be involved in disease pathogenesis

  • 20/151 diseases for APC (see all 151):    About MalaCards
    familial adenomatous polyposis    colon cancer    gardner syndrome    fourth cranial nerve palsy
    apc-associated polyposis conditions    intestinal neoplasm    desmoid disease, hereditary    hepatoblastoma, somatic
    desmoid tumor    turcot syndrome    medulloblastoma    cranial nerve palsy
    hepatoblastoma    attenuated familial adenomatous polyposis    fibrous dysplasia    mutyh-associated polyposis
    brachydactyly type e    nonpapillary renal cell carcinoma    hyperplastic polyposis syndrome    cerebellar liponeurocytoma

    5 diseases from the University of Copenhagen DISEASES database for APC:
    Familial adenomatous polyposis     Colorectal cancer     Adenoma     Intestinal neoplasm
    Carcinoma

    APC for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/95 Novoseek inferred disease relationships for APC gene (see all 95)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    familial adenomatous polyposis 96.7 454 15793634 (4), 8835324 (4), 15540296 (4), 11786778 (3) (see all 99)
    polyposis 89.7 92 17568392 (6), 11867715 (4), 15761860 (3), 11868006 (2) (see all 58)
    colorectal cancer 85.6 236 8835324 (6), 15375009 (5), 11211307 (4), 11135372 (4) (see all 99)
    adenoma 85.1 218 8012980 (6), 12673484 (6), 12163385 (6), 10440612 (5) (see all 99)
    colorectal tumors 83.1 44 10737795 (3), 10921028 (3), 10493496 (2), 9724771 (2) (see all 35)
    microsatellite instability 83.1 54 9924427 (2), 11819821 (2), 12378616 (2), 11107173 (2) (see all 47)
    desmoid tumor 81.7 59 15793634 (6), 18646694 (3), 18854359 (3), 10782927 (3) (see all 24)
    turcot syndrome 81.1 14 7515658 (2), 7662026 (1), 9641305 (1), 11005140 (1) (see all 10)
    adenomatous polyps 79.4 11 14502807 (2), 7559732 (1), 12833148 (1), 14578138 (1) (see all 10)
    germ-line mutation 78.5 41 11867715 (3), 1316610 (2), 15857185 (2), 11754114 (2) (see all 32)

    GeneTests: APC
    GeneReviews: APC
    Genetic Association Database (GAD): APC
    Human Genome Epidemiology (HuGE) Navigator: APC (236 documents)
    Tumor Gene Database (TGDB): APC

    Export disorders for APC gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for APC gene, integrated from 9 sources (see all 1612):
    (articles sorted by number of sources associating them with APC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history. (PubMed id 9724771)1, 2, 4, 9 Frayling I.M.... Tomlinson I.P.M. (1998)
    2. A germline mutation at the extreme 3' end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta-catenin in the desmoid tumor. (PubMed id 10782927)1, 2, 4, 9 Couture J.... Bapat B. (2000)
    3. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. (PubMed id 1651563)1, 2, 3, 9 Nishisho I....Hedge P. (1991)
    4. Relative role of APC and MUTYH mutations in the patho genesis of familial adenomatous polyposis. (PubMed id 19593690)1, 4, 9 Pezzi A....Ponz De Leon M. (2009)
    5. APC and CTNNB1 mutations are rare in sporadic ependymomas. (PubMed id 16843107)1, 4, 9 Onilude O.E....Clifford S.C. (2006)
    6. [The I1307K mutation and protein expression of APC gene in gastric cancer] (PubMed id 15639864)1, 4, 9 Sun X.J....Sun K.L. (2003)
    7. Molecular analysis of the APC and MUTYH genes in Gali cian and Catalonian FAP families: a different spectrum of mutations? (PubMed id 19531215)1, 4, 9 GA^mez-FernA!ndez N....Ruiz-Ponte C. (2009)
    8. [Polymorphism/loss of heterozygosity of APC gene in G ERD-Barrett's metaplasia-dysplasia-adenocarcinoma sequence] (PubMed id 19606680)1, 4, 9 Mokrowiecka A....Malecka-Panas E. (2009)
    9. Prevalence of mutations in APC, CTNNB1, and BRAF in Tunisian patients with sporadic colorectal cancer. (PubMed id 18992635)1, 4, 9 Bougatef K....Marrakchi R. (2008)
    10. APC gene loss of heterozygosity, mutations, E1317Q, and I1307K germ-line variants in sporadic colon cancer in Croatia. (PubMed id 15507235)1, 4, 9 Kapitanovic S....Pavelic K. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 324 HGNC: 583 AceView: APCandSRP19andU2AF1L1 Ensembl:ENSG00000134982 euGenes: HUgn324
    ECgene: APC Kegg: 324 H-InvDB: APC

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for APC Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for APC Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/APC
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=APC
    Wikipedia http://en.wikipedia.org/wiki/APC_%28gene%29

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for APC gene:
    Search GeneIP for patents involving APC

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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