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Aliases for APC Gene

Aliases for APC Gene

  • APC, WNT Signaling Pathway Regulator 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 46 2 3
  • Deleted In Polyposis 2.5 3 4
  • DP2.5 3 4
  • Adenomatosis Polyposis Coli Tumor Suppressor 3
  • Truncated Adenomatosis Polyposis Coli 3
  • Adenomatous Polyposis Coli Protein 3
  • Adenomatous Polyposis Coli (APC) 3
  • WNT Signaling Pathway Regulator 3
  • Adenomatosis Polyposis Coli 2
  • Adenomatous Polyposis Coli 2
  • Protein APC 4
  • PPP1R46 3
  • BTPS2 3
  • DP2 3
  • DP3 3
  • GS 3

External Ids for APC Gene

Previous GeneCards Identifiers for APC Gene

  • GC05P111687
  • GC05P112537
  • GC05P112074
  • GC05P112149
  • GC05P112101
  • GC05P107222

Summaries for APC Gene

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]

CIViC summary for APC Gene

GeneCards Summary for APC Gene

APC (APC, WNT Signaling Pathway Regulator) is a Protein Coding gene. Diseases associated with APC include Familial Adenomatous Polyposis 1 and Desmoid Disease, Hereditary. Among its related pathways are phosphorylation site mutants of CTNNB1 are not targeted to the proteasome by the destruction complex and Reelin Pathway (Cajal-Retzius cells). Gene Ontology (GO) annotations related to this gene include binding and microtubule binding. An important paralog of this gene is APC2.

UniProtKB/Swiss-Prot for APC Gene

  • 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 Gene

Additional gene information for APC Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APC Gene

Genomics for APC Gene

GeneHancer (GH) Regulatory Elements for APC Gene

Promoters and enhancers for APC Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J112706 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 659.6 +0.6 553 3.1 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 POLR2B ZNF207 APC YTHDC2 DCP2 REEP5 RNU6-482P CBX3P3 ZRSR2P1
GH05J112737 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 657.2 +30.4 30413 1.7 HDGF HNRNPUL1 PKNOX1 CLOCK ARNT ARID4B SIN3A ZNF2 YY1 POLR2B APC REEP5 YTHDC2 CBX3P3
GH05J112839 Promoter 0.7 EPDnew 650.1 +132.5 132513 0.1 SETDB1 MGA APC SRP19 CBX3P3 RNU6-482P PIR62132 ENSG00000258864
GH05J112837 Promoter 0.5 EPDnew 650.1 +130.1 130099 0.1 PIR62132 APC SRP19 CBX3P3 RNU6-482P ENSG00000258864
GH05J112841 Promoter 0.5 EPDnew 650.1 +133.8 133752 0.1 APC CBX3P3 RNU6-482P PIR62132 ENSG00000258864 SRP19
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around APC on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the APC gene promoter:
  • C/EBPbeta
  • MyoD
  • NF-1/L
  • NF-1
  • TFIID
  • STAT5B
  • TBP
  • Spz1

Genomic Locations for APC Gene

Genomic Locations for APC Gene
chr5:112,707,498-112,846,239
(GRCh38/hg38)
Size:
138,742 bases
Orientation:
Plus strand
chr5:112,043,195-112,181,936
(GRCh37/hg19)
Size:
138,742 bases
Orientation:
Plus strand

Genomic View for APC Gene

Genes around APC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APC Gene

Proteins for APC Gene

  • Protein details for APC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P25054-APC_HUMAN
    Recommended name:
    Adenomatous polyposis coli protein
    Protein Accession:
    P25054
    Secondary Accessions:
    • B7Z2B6
    • D3DT03
    • Q15162
    • Q15163
    • Q93042

    Protein attributes for APC Gene

    Size:
    2843 amino acids
    Molecular mass:
    311646 Da
    Quaternary structure:
    • 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). Interacts with KHDRBS1. The complex composed, at least, of APC, CTNNB1 and GSK3B interacts with JPT1; the interaction requires the inactive form of GSK3B (phosphorylated at Ser-9) (PubMed:25169422).
    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.

    Three dimensional structures from OCA and Proteopedia for APC Gene

    Alternative splice isoforms for APC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for APC Gene

Post-translational modifications for APC Gene

  • Phosphorylated by GSK3B.
  • Ubiquitinated, leading to its degradation by the proteasome. Ubiquitination is facilitated by Axin. Deubiquitinated by ZRANB1/TRABID.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for APC

No data available for DME Specific Peptides for APC Gene

Domains & Families for APC Gene

Gene Families for APC Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

P25054

UniProtKB/Swiss-Prot:

APC_HUMAN :
  • The microtubule tip localization signal (MtLS) motif; mediates interaction with MAPRE1 and targeting to the growing microtubule plus ends.
  • Belongs to the adenomatous polyposis coli (APC) family.
Domain:
  • The microtubule tip localization signal (MtLS) motif; mediates interaction with MAPRE1 and targeting to the growing microtubule plus ends.
Family:
  • Belongs to the adenomatous polyposis coli (APC) family.
genes like me logo Genes that share domains with APC: view

Function for APC Gene

Molecular function for APC Gene

UniProtKB/Swiss-Prot 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:
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

Phenotypes From GWAS Catalog for APC Gene

Gene Ontology (GO) - Molecular Function for APC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding IEA --
GO:0005515 protein binding IEA,IPI 8638126
GO:0008013 beta-catenin binding IPI,IEA 7890674
GO:0008017 microtubule binding IDA 11166179
GO:0019887 protein kinase regulator activity IDA 11972058
genes like me logo Genes that share ontologies with APC: view
genes like me logo Genes that share phenotypes with APC: view

Human Phenotype Ontology for APC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for APC Gene

MGI Knock Outs for APC:
  • Apc Apc<tm1Cip>
  • Apc Apc<tm1Rak>
  • Apc Apc<tm1Hsa>
  • Apc Apc<tm1.1Tno>
  • Apc Apc<tm2.1Rak>
  • Apc Apc<tm2Tno>
  • Apc Apc<tm1.1Rsmi>
  • Apc Apc<tm1Mmt>
  • Apc Apc<tm1.1Tyj>
  • Apc Apc<tm2Mmt>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APC

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for APC Gene

Localization for APC Gene

Subcellular locations from UniProtKB/Swiss-Prot for APC Gene

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 (PubMed:19632184). Accumulates in the lamellipodium and ruffle membrane in response to hepatocyte growth factor (HGF) treatment (PubMed:19151759). The MEMO1-RHOA-DIAPH1 signaling pathway controls localization of the phosphorylated form to the cell membrane (PubMed:20937854). {ECO:0000269 PubMed:19151759, ECO:0000269 PubMed:19632184, ECO:0000269 PubMed:20937854}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for APC gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
cytosol 5

Gene Ontology (GO) - Cellular Components for APC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 kinetochore IDA 11283619
GO:0005634 nucleus IDA,IEA 11035805
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA,IEA 11035805
GO:0005813 centrosome IDA 11283619
genes like me logo Genes that share ontologies with APC: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for APC Gene

Pathways & Interactions for APC Gene

SuperPathway Contained pathways
1 phosphorylation site mutants of CTNNB1 are not targeted to the proteasome by the destruction complex
2 Gastric cancer
3 Wnt Signaling Pathway and Pluripotency
4 CDK-mediated phosphorylation and removal of Cdc6
.31
5 Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling
genes like me logo Genes that share pathways with APC: view

SIGNOR curated interactions for APC Gene

Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for APC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000281 mitotic cytokinesis IMP 17570218
GO:0001708 cell fate specification IBA --
GO:0006974 cellular response to DNA damage stimulus IEA,IDA 14728717
GO:0007026 negative regulation of microtubule depolymerization IMP,IEA 17192415
GO:0007050 cell cycle arrest IDA,IEA 8521819
genes like me logo Genes that share ontologies with APC: view

Drugs & Compounds for APC Gene

(50) Drugs for APC Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Protein C Approved Pharma 126
Thrombin Approved, Investigational Pharma 332
Drotrecogin alfa activated Pharma 30
Cola Nutra 2056

(42) Additional Compounds for APC Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with APC: view

Transcripts for APC Gene

mRNA/cDNA for APC Gene

Unigene Clusters for APC Gene

Adenomatous polyposis coli:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APC

Alternative Splicing Database (ASD) splice patterns (SP) for APC Gene

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:

Relevant External Links for APC Gene

GeneLoc Exon Structure for
APC
ECgene alternative splicing isoforms for
APC

Expression for APC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for APC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for APC Gene

This gene is overexpressed in Brain - Amygdala (x5.6) and Brain - Hippocampus (x5.3).

Protein differential expression in normal tissues from HIPED for APC Gene

This gene is overexpressed in Vitreous humor (37.5) and Fetal Brain (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for APC Gene



NURSA nuclear receptor signaling pathways regulating expression of APC Gene:

APC

SOURCE GeneReport for Unigene cluster for APC Gene:

Hs.158932

mRNA Expression by UniProt/SwissProt for APC Gene:

P25054-APC_HUMAN
Tissue specificity: Expressed in a variety of tissues: brain, small intestine, colon, thymus, skeletal muscle, heart, prostate, lung, spleen, ovary, testis kidney, placenta, blood and liver (PubMed:21643010, PubMed:27217144). Isoform 1A: Very strongly expressed in brain but has relatively low expression levels in other tissues (PubMed:19527921, PubMed:21643010, PubMed:27217144). Isoform 1B: Predominant form in all tissues except for brain, including gastric mucosa and blood (PubMed:19527921, PubMed:21643010, PubMed:27217144).

Evidence on tissue expression from TISSUES for APC Gene

  • Nervous system(4.9)
  • Liver(4.2)
  • Blood(4.1)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for APC Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • chin
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • salivary gland
  • skull
  • tooth
Thorax:
  • breast
  • esophagus
Abdomen:
  • abdominal wall
  • adrenal gland
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • anus
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
Limb:
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • lower limb
  • nail
  • radius
  • toe
  • ulna
  • upper limb
General:
  • blood vessel
  • coagulation system
  • skin
genes like me logo Genes that share expression patterns with APC: view

No data available for Protein tissue co-expression partners for APC Gene

Orthologs for APC Gene

This gene was present in the common ancestor of animals.

Orthologs for APC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia APC 34 33
  • 99.66 (n)
OneToOne
dog
(Canis familiaris)
Mammalia -- 34
  • 98 (a)
OneToMany
-- 34
  • 92 (a)
OneToMany
APC 33
  • 90.7 (n)
cow
(Bos Taurus)
Mammalia APC 34 33
  • 91.92 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Apc 16 34 33
  • 87.53 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 87 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Apc 33
  • 86.12 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 84 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 34
  • 84 (a)
OneToMany
APC 33
  • 80.62 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 97 (a)
ManyToMany
-- 34
  • 82 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia apc 33
  • 73.22 (n)
Str.17692 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.8436 33
zebrafish
(Danio rerio)
Actinopterygii apc 34 33
  • 66.85 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Apc2 34 35
  • 34 (a)
ManyToMany
Apc 34 35
  • 21 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea apr-1 34
  • 22 (a)
OneToMany
Species where no ortholog for APC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for APC Gene

ENSEMBL:
Gene Tree for APC (if available)
TreeFam:
Gene Tree for APC (if available)
Aminode:
Evolutionary constrained regions (ECRs) for APC: view image

Paralogs for APC Gene

Paralogs for APC Gene

(2) SIMAP similar genes for APC Gene using alignment to 26 proteins:

  • APC_HUMAN
  • A1YIQ7_HUMAN
  • A1YIX6_HUMAN
  • A1YR11_HUMAN
  • A5HB94_HUMAN
  • A5HB95_HUMAN
  • A5HB96_HUMAN
  • A5HB97_HUMAN
  • A5JUM6_HUMAN
  • A5JUM7_HUMAN
  • A5JUM8_HUMAN
  • A5JUM9_HUMAN
  • B7Z2B6_HUMAN
  • D6RFL6_HUMAN
  • E7EMH9_HUMAN
  • E9PFT7_HUMAN
  • Q16097_HUMAN
  • Q16098_HUMAN
  • Q5EBR8_HUMAN
  • Q5EBR9_HUMAN
  • Q5EEK4_HUMAN
  • Q7Z2Q8_HUMAN
  • Q9HAW6_HUMAN
  • Q9P119_HUMAN
  • Q9UM98_HUMAN
  • R4GMU6_HUMAN
genes like me logo Genes that share paralogs with APC: view

Variants for APC Gene

Sequence variations from dbSNP and Humsavar for APC Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000470082 uncertain-significance, Familial adenomatous polyposis 1 112,707,548(+) G/C 5_prime_UTR_variant, genic_upstream_transcript_variant
rs1000878850 likely-benign, Familial adenomatous polyposis 1 112,801,356(+) C/A/T coding_sequence_variant, synonymous_variant
rs1001526630 uncertain-significance, Hereditary cancer-predisposing syndrome 112,827,990(+) G/A coding_sequence_variant, missense_variant
rs1003390887 uncertain-significance, Familial adenomatous polyposis 1, not specified, Hereditary cancer-predisposing syndrome 112,819,318(+) C/T coding_sequence_variant, missense_variant
rs1003613894 uncertain-significance, Familial adenomatous polyposis 1 112,842,054(+) C/A/G coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for APC Gene

Variant ID Type Subtype PubMed ID
esv3570346 CNV loss 25503493
esv3606300 CNV loss 21293372
nsv1034239 CNV gain 25217958
nsv4959 CNV insertion 18451855

Variation tolerance for APC Gene

Residual Variation Intolerance Score: 0.193% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.18; 61.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for APC Gene

Human Gene Mutation Database (HGMD)
APC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
APC

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APC Gene

Disorders for APC Gene

MalaCards: The human disease database

(43) MalaCards diseases for APC Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
familial adenomatous polyposis 1
  • fap
desmoid disease, hereditary
  • fibromatosis, familial infiltrative; fif
gastric cancer
  • gastric cancer, somatic
familial adenomatous polyposis
  • adenomatous polyposis of the colon
colorectal cancer
  • crc
- elite association - COSMIC cancer census association via MalaCards
Search APC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

APC_HUMAN
  • 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. {ECO:0000269 PubMed:10470088, ECO:0000269 PubMed:1338691, ECO:0000269 PubMed:1338764, ECO:0000269 PubMed:1338904, ECO:0000269 PubMed:1651563, ECO:0000269 PubMed:21643010, ECO:0000269 PubMed:27217144, ECO:0000269 PubMed:7661930, ECO:0000269 PubMed:7833149, ECO:0000269 PubMed:7833931, ECO:0000269 PubMed:8990002}. 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. {ECO:0000269 PubMed:10782927, ECO:0000269 PubMed:8940264}. 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. {ECO:0000269 PubMed:10666372}. Note=The gene represented in this entry may be involved in disease pathogenesis.
  • 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.

Additional Disease Information for APC

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
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ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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No data available for Genatlas for APC Gene

Publications for APC Gene

  1. The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history. (PMID: 9724771) Frayling IM … Tomlinson IP (Proceedings of the National Academy of Sciences of the United States of America 1998) 3 4 22 44 58
  2. Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations? (PMID: 19531215) Gómez-Fernández N … Ruiz-Ponte C (BMC medical genetics 2009) 3 22 44 58
  3. [Polymorphism/loss of heterozygosity of APC gene in GERD-Barrett's metaplasia-dysplasia-adenocarcinoma sequence]. (PMID: 19606680) Mokrowiecka A … Malecka-Panas E (Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego 2009) 3 22 44 58
  4. Prevalence of mutations in APC, CTNNB1, and BRAF in Tunisian patients with sporadic colorectal cancer. (PMID: 18992635) Bougatef K … Marrakchi R (Cancer genetics and cytogenetics 2008) 3 22 44 58
  5. APC and CTNNB1 mutations are rare in sporadic ependymomas. (PMID: 16843107) Onilude OE … Clifford SC (Cancer genetics and cytogenetics 2006) 3 22 44 58

Products for APC Gene

  • Addgene plasmids for APC

Sources for APC Gene

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