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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. Mutations... See more...
Aliases for APC Gene
Aliases for APC Gene
External Ids for APC Gene
- HGNC: 583
- Entrez Gene: 324
- Ensembl: ENSG00000134982
- OMIM: 611731
- UniProtKB: P25054
Previous GeneCards Identifiers for APC Gene
- GC05P111687
- GC05P112537
- GC05P112074
- GC05P112149
- GC05P112101
- GC05P107222
Summaries 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. Mutations in the APC gene have been found to occur in most colorectal cancers. 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, Dec 2019]
GeneCards Summary for APC Gene
APC (APC Regulator Of WNT Signaling Pathway) is a Protein Coding gene. Diseases associated with APC include Familial Adenomatous Polyposis 1 and Desmoid Disease, Hereditary. Among its related pathways are Association Between Physico-Chemical Features and Toxicity Associated Pathways and Regulation of Wnt-mediated beta catenin signaling and target gene transcription. Gene Ontology (GO) annotations related to this gene include binding and microtubule binding. An important paralog of this gene is APC2.
UniProtKB/Swiss-Prot Summary 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.
Additional gene information for APC Gene
- HGNC(583)
- Entrez Gene(324)
- Ensembl(ENSG00000134982)
- OMIM(611731)
- UniProtKB(P25054)
- Open Targets Platform(ENSG00000134982)
- Monarch Initiative
- Search for APC at DataMed
- Search for APC at HumanCyc
No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for APC Gene
Genomics for APC Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for APC Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for APC
- Top Transcription factor binding sites by QIAGEN in the APC gene promoter:
-
- C/EBPbeta
- MyoD
- NF-1
- NF-1/L
- Spz1
- STAT5B
- TBP
- TFIID
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:
-
- 5q22.2 by HGNC
- 5q22.2 by Entrez Gene
- 5q22.2 by Ensembl
APC Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
- [Isoform 1B]: Produced by alternative promoter usage.
Three dimensional structures from OCA and Proteopedia for APC Gene
Protein Expression 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
Other Protein References for APC Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for APC
-
Abcam antibodies for APC
- Invitrogen Antibodies for APC (AFLGC-Apc)
- antibodies-online: Show 229 available APC Antibodies ranked by validation data
- Compare Top APC Antibodies
-
Recommended
- 77 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 7 IHC Antibodies (anti-mouse)
- 6 IHC (p) Antibodies (anti-mouse)
- 2 IP Antibodies (anti-mouse)
- 108 WB Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 13 IHC (p) Antibodies (anti-human)
- 12 IHC Antibodies (anti-human)
- 4 IP Antibodies (anti-human)
- 3 IHC (fro) Antibodies (anti-human)
- 1 EIA Antibody (anti-human)
- 1 IVI Antibody (anti-human)
- 46 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 7 IHC Antibodies (anti-rat)
- 6 IHC (p) Antibodies (anti-rat)
- 2 IP Antibodies (anti-rat)
-
Boster Bio Antibodies for APC
-
Santa Cruz Biotechnology (SCBT) Antibodies for APC
Protein Products
-
OriGene Purified Proteins for APC
- Search Origene for MassSpec and Protein Over-expression Lysates for APC
- Origene Custom Protein Services for APC
- antibodies-online: Show 7 available APC Proteins ranked by validation data
- Compare Top APC Proteins
-
Signalway Proteins for APC
Assay Products
-
Signalway ELISA kits 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
Protein Domains for APC Gene
- InterPro:
- Blocks:
-
- Armadillo repeat
- ProtoNet:
Suggested Antigen Peptide Sequences for APC Gene
- GenScript: Design optimal peptide antigens:
-
- Adenomatous polyposis coli (A1YIQ7_HUMAN)
- Truncated adenomatous polyposis coli (A1YIX6_HUMAN)
- Adenomatosis polyposis coli (A1YR11_HUMAN)
- Adenomatosis polyposis coli (A5HB94_HUMAN)
- Adenomatosis polyposis coli (A5HB95_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P25054UniProtKB/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.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IEA,IPI | 8638126 |
| GO:0008013 | beta-catenin binding | IEA,IPI | 7890674 |
| GO:0008017 | microtubule binding | IDA | 11166179 |
| GO:0019887 | protein kinase regulator activity | IDA | 11972058 |
| GO:0019901 | protein kinase binding | IPI | 8638126 |
Phenotypes for APC Gene
- MGI mutant phenotypes for APC:
-
inferred from 27 alleles
- nervous system phenotype
- immune system phenotype
- normal phenotype
- cardiovascular system phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- liver/biliary system phenotype
- renal/urinary system phenotype
- neoplasm
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- limbs/digits/tail phenotype
- hearing/vestibular/ear phenotype
- skeleton phenotype
- hematopoietic system phenotype
- integument phenotype
- embryo phenotype
- pigmentation phenotype
- craniofacial phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for APC:
-
- Decreased hepcidin::fluc mRNA expression
- no effect
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased viability
- Increased shRNA abundance
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
- Decreased shRNA abundance (Z-score < -2)
- Upregulation of Wnt pathway
- Decreased POU5F1-GFP protein expression
- Decreased viability in esophageal squamous lineage; decreased viability in non-small-cell lung cancer (NSCLC) lineage
- Downregulation of NFkappaB pathway
- Increased shRNA abundance (Z-score > 2)
- Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, decreased FA abundance, increased cell elongation
Animal Models for APC Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for APC - Select products 50% OFF >
- * APC CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for APC
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for APC
-
Santa Cruz Biotechnology (SCBT) CRISPR for APC
miRNA for APC Gene
- miRTarBase miRNAs that target APC
-
- hsa-miR-155-5p (MIRT001207)
- hsa-miR-135b-5p (MIRT001940)
- hsa-miR-135a-5p (MIRT001941)
- hsa-miR-210-3p (MIRT003183)
- hsa-miR-27a-3p (MIRT006221)
- hsa-miR-106b-5p (MIRT007071)
- mmu-miR-425-5p (MIRT008809)
- mmu-miR-26a-5p (MIRT011443)
- mmu-miR-30e-5p (MIRT013473)
- hsa-miR-215-5p (MIRT024577)
- hsa-miR-192-5p (MIRT026886)
- hsa-miR-21-5p (MIRT031054)
- hsa-miR-186-5p (MIRT045069)
- hsa-miR-148a-3p (MIRT048033)
- hsa-miR-663a (MIRT053348)
- hsa-miR-129-5p (MIRT121568)
- hsa-miR-142-3p (MIRT165080)
- hsa-miR-218-5p (MIRT441214)
- hsa-miR-106a-5p (MIRT731847)
- mmu-miR-143-5p (MIRT733833)
- hsa-miR-125b-5p (MIRT734087)
- hsa-miR-590-3p (MIRT734374)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for APC
- Browse OriGene Inhibitory RNA Products For APC
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APC
Clone Products
- Applied Biological Materials (abm): Clones for APC - Select products 50% OFF >
- * APC as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for APC
- Addgene plasmids for APC
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter 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}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytoskeleton | 5 |
| nucleus | 5 |
| cytosol | 5 |
| extracellular | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000776 | kinetochore | IDA | 11283619 |
| GO:0005634 | nucleus | IEA,IDA | 11035805 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005737 | cytoplasm | IEA,IDA | 11035805 |
| GO:0005813 | centrosome | IDA | 11283619 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for APC Gene
Pathways & Interactions for APC Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | S45 mutants of beta-catenin arent phosphorylated | ||
| 2 | Apoptotic execution phase |
.31
|
|
| 3 | Gastric cancer |
.62
.62
|
|
| 4 | Endometrial cancer | ||
| 5 | Regulation of actin cytoskeleton | ||
Pathways by source for APC Gene
22 BioSystems pathways for APC Gene
31 Reactome pathways for APC Gene
15 KEGG pathways for APC Gene
2 R&D Systems pathways for APC Gene
11 Qiagen pathways for APC Gene
- Colorectal Cancer Metastasis
- Factors Promoting Cardiogenesis in Vertebrates
- G12-G13 in Cellular Signaling
- Glioblastoma Multiforme
- GSK3 Signaling
1 Cell Signaling Technology pathway for APC Gene
1 GeneTex pathway for APC Gene
Interacting Proteins for APC Gene
Selected Interacting proteins:
P25054-APC_HUMAN
ENSP00000257430
for APC Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for APC
SIGNOR curated interactions for APC Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000281 | mitotic cytokinesis | IEA,IMP | 17570218 |
| GO:0001708 | cell fate specification | IBA | 21873635 |
| GO:0006974 | cellular response to DNA damage stimulus | IEA,IDA | 14728717 |
| GO:0007026 | negative regulation of microtubule depolymerization | IEA,IMP | 17192415 |
| GO:0007050 | cell cycle arrest | IEA,IDA | 8521819 |
Drugs & Compounds for APC Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for APC Gene
mRNA/cDNA for APC Gene
- 15 REFSEQ mRNAs :
- 32 NCBI additional mRNA sequence :
- 10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000509732 524 nts (view in UCSC)
- ENST00000505350 573 nts (view in UCSC)
- ENST00000507379 3602 nts (view in UCSC)
- ENST00000508624 7406 nts (view in UCSC)
- ENST00000257430 10704 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for APC - Select products 50% OFF >
- * APC CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for APC
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for APC
-
Santa Cruz Biotechnology (SCBT) CRISPR for APC
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for APC
- Browse OriGene Inhibitory RNA Products For APC
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APC
Clone Products
- Applied Biological Materials (abm): Clones for APC - Select products 50% OFF >
- * APC as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for APC
- Addgene plasmids for APC
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for APC
| 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
Expression for APC Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Glial Cells
- Myelinating Oligodendrocyte Cells Forebrain White Matter
- Myelinating Oligodendrocyte Cells Spinal Cord White Matter
-
Brain (Nervous System)
- Myelinating Oligodendrocyte Cells Forebrain White Matter
-
Spinal Cord (Nervous System)
- Myelinating Oligodendrocyte Cells Spinal Cord White Matter
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).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for APC
SOURCE GeneReport for Unigene cluster for APC Gene:
Hs.158932mRNA 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(5)
- Liver(4.5)
- Blood(4.5)
- Intestine(3.3)
- Kidney(2.6)
- Muscle(2.6)
- Heart(2.5)
- Lung(2.5)
- Skin(2.5)
- Spleen(2.4)
- Stomach(2.1)
- Lymph node(2.1)
- Eye(2.1)
- Bone marrow(2.1)
- Pancreas(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
Primer Products
-
OriGene qPCR primer pairs for APC
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | APC 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| APC 30 |
|
||||
| Cow (Bos Taurus) |
Mammalia | APC 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Apc 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| Rat (Rattus norvegicus) |
Mammalia | Apc 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| Chicken (Gallus gallus) |
Aves | -- 31 |
|
OneToMany | |
| APC 30 |
|
||||
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | apc 30 |
|
||
| Str.17692 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.8436 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | apc 30 31 |
|
OneToMany | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | Apc2 31 32 |
|
ManyToMany | |
| Apc 31 32 |
|
ManyToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | apr-1 31 |
|
OneToMany |
- Species where no ortholog for APC was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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
Variants for APC Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for APC Gene
| SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 630502 | Likely Benign: Hereditary cancer-predisposing syndrome | 112,844,127(+) | AAG/A | THREE_PRIME_UTR_VARIANT | |
| 632637 | Uncertain Significance: not specified | 112,839,684(+) | AGTG/A | INFRAME_DELETION | |
| 638855 | Pathogenic: Familial adenomatous polyposis 1 | 112,792,464(+) | C/T | NONSENSE,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
| 638951 | Uncertain Significance: Familial adenomatous polyposis 1 | 112,841,838(+) | G/C | MISSENSE_VARIANT | |
| 638969 | Uncertain Significance: Familial adenomatous polyposis 1 | 112,840,680(+) | A/G | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3570346 | CNV | loss | 25503493 |
| esv3606300 | CNV | loss | 21293372 |
| nsv1034239 | CNV | gain | 25217958 |
| nsv4959 | CNV | insertion | 18451855 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APC Gene
Disorders for APC Gene
(115) MalaCards diseases for APC Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| familial adenomatous polyposis 1 |
|
|
| desmoid disease, hereditary |
|
|
| gastric cancer |
|
|
| familial adenomatous polyposis |
|
|
| colorectal cancer |
|
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:1316610, 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
- (TGDB)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for APC Gene
Publications for APC Gene
- 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 23 41
- [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 23 41
- 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 23 41
- Introduction of cytogenetic tests in colorectal cancer screening. (PMID: 19337631) Suceveanu AI … Adam T (Journal of gastrointestinal and liver diseases : JGLD 2009) 3 23 41
- Relative role of APC and MUTYH mutations in the pathogenesis of familial adenomatous polyposis. (PMID: 19593690) Pezzi A … Ponz De Leon M (Scandinavian journal of gastroenterology 2009) 3 23 41
ExternalLinks
Products for APC Gene
- Custom Antibody ServicesOriGene Antibodies for APC
- Browse OriGene ELISA Kits
- Custom Assay Services
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- Search Origene for MassSpec and Protein Over-expression Lysates for APC
- Origene Custom Protein Services for APC
- Origene shrna, sirna, and RNAi products in human, mouse, rat for APC
- Browse OriGene Inhibitory RNA Products For APC
- OriGene qPCR primer pairs for APC
- OriGene CRISPR knockouts for APC
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For APC
- Sino Biological Human cDNA Clone for APC
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- Invitrogen Antibodies for APC (AFLGC-Apc)
- VectorBuilder Custom and pre-made DNA vectors for APC (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for APC (ie. lentivirus, AAV, adenovirus)
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- VectorBuilder Virus packaging for APC CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for APC
- Addgene plasmids for APC
- antibodies-online: Show 229 available APC Antibodies ranked by validation data
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- 77 WB Antibodies (anti-mouse)
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- 108 WB Antibodies (anti-human)
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- 4 IP Antibodies (anti-human)
- 3 IHC (fro) Antibodies (anti-human)
- 1 EIA Antibody (anti-human)
- 1 IVI Antibody (anti-human)
- 46 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 7 IHC Antibodies (anti-rat)
- 6 IHC (p) Antibodies (anti-rat)
- 2 IP Antibodies (anti-rat)
- antibodies-online: Show 25 available APC Elisa Kits ranked by validation data
- Compare Top APC Elisa Kits
- antibodies-online: Show 7 available APC Proteins ranked by validation data
- Compare Top APC Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for APC
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- Santa Cruz Biotechnology (SCBT) CRISPR for APC
- Horizon Cell Lines for APC
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for APC
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for APC
- Search GeneCopoeia for miRNA 3'UTR Target clone products for APC
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APC
- Boster Bio Antibodies for APC
Sources for APC Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
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- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
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- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB