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GIFtS
-

APC Gene

protein-coding GIFtS: 72
GCID: GC05P112101

Adenomatous Polyposis Coli

(Previous name: adenomatosis polyposis coli)

Microbiology & Infectious Diseases Congress

151 related diseases
at

MalaCards

(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

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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	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 ID	Qualified GO term	Evidence	PubMed IDs
GO:0000776	kinetochore	IDA	11283619
GO:0005634	nucleus	IDA	11035805
GO:0005737	cytoplasm	IDA	11035805
GO:0005813	centrosome	IDA	11283619
GO:0005829	cytosol	TAS	--

APC for ontologies About GeneDecksing

APC Antibody Products:

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Assay Products for APC:

	EMD Millipore Kits and Assays for the Analysis of APC
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	Browse R&D Systems for biochemical assays
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	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for APC Cloud-Clone Corp. CLIAs for APC

(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 ID	Qualified GO term	Evidence	PubMed IDs
GO:0005488	binding	--	--
GO:0005515	protein binding	IPI	10656683
GO:0008013	beta-catenin binding	IPI	10773885
GO:0008017	microtubule binding	IDA	11166179
GO:0019887	protein kinase regulator activity	IDA	11972058

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: Apc^tm1.1Tyj Apc^tm4Mmt Apc^tm1Cip Apc^tm1Rak Apc^tm1.1Tno Apc^tm1Mmt
                                                     Apc^tm1Hsa Apc^tm1.1Ecrm Apc^tm2.1Rak

inGenious Targeting Laboratory - Custom generated mouse model solutions for APC

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for APC

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 Products:		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 plasmid: APC 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for APC

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector (see all 3): APC (NM_001127510)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for APC
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APC

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In Situ Assay
Products:

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

SuperPath

Contained pathways About

Wnt signaling pathway

	Wnt signaling pathway	0.40			Wnt Signaling Pathway NetPath	0.37
	Wnt Signaling Pathway	0.40

Regulation of Actin Cytoskeleton

Regulation of Actin Cytoskeleton

0.57

Regulation of actin cytoskeleton

0.57

Wnt Signaling Pathway

	Wnt Signaling Pathway	0.55			DNA damage response (only ATM dependent)	0.32
	Wnt Signaling Pathway and Pluripotency	0.55

CDK-mediated phosphorylation and removal of Cdc6

Degradation of beta-catenin by the destruction complex

0.75

Apoptosis

0.39

Apoptotic cleavage of cellular proteins

Apoptotic cleavage of cellular proteins

0.73

Apoptotic execution phase

0.73

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 Central^TM 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 (P25054^{1, 2, 3} ENSP00000257430⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 480)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CTNNB1	P35222¹^,²^,³, ENSP00000344456⁴	EBI-727707,EBI-491549 MINT-4508229 I2D: score=8 STRING: ENSP00000344456
DVL1	O14640²^,³, ENSP00000368169⁴	MINT-7897032 MINT-7897055 MINT-7897075 MINT-7897100 I2D: score=1 STRING: ENSP00000368169
DVL2	O14641²^,³, ENSP00000005340⁴	MINT-7890898 MINT-7897032 MINT-7897075 I2D: score=2 STRING: ENSP00000005340
PXN	P49023²^,³, ENSP00000228307⁴	MINT-7891130 MINT-7897100 I2D: score=2 STRING: ENSP00000228307
MAPRE1	Q15691¹^,³, ENSP00000364721⁴	EBI-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 ID	Qualified GO term	Evidence	PubMed IDs
GO:0000281	mitotic cytokinesis	IMP	17570218
GO:0001822	kidney development	IEA	--
GO:0001942	hair follicle development	IEA	--
GO:0006461	protein complex assembly	IDA	16188939
GO:0006915	apoptotic 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
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

miRNA Products:		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 plasmid: APC 3' UTR sequence

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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: --

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

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for APC
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In Situ
Assay Products:

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	Apc^{1 , 5}	adenomatosis polyposis coli^{1, 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

SNP ID	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
VAR_009614⁴	Familial adenomatous polyposis (FAP)⁴	--	see VAR_009614	2	S G	mis⁴		0	--	--	--	--
VAR_009616⁴	Familial adenomatous polyposis (FAP)⁴	--	see VAR_009616	2	A P	mis⁴		0	--	--	--	--
VAR_009613⁴	Familial adenomatous polyposis (FAP)⁴	--	see VAR_009613	2	R W	mis⁴		0	--	--	--	--
VAR_005045⁴	Gastric cancer (GASC)⁴	--	see VAR_005045	2	F S	mis⁴		0	--	--	--	--
VAR_005050⁴	Gastric cancer (GASC)⁴	--	see VAR_005050	2	G E	mis⁴		0	--	--	--	--
VAR_005051⁴	Familial adenomatous polyposis (FAP)⁴	--	see VAR_005051	2	T A	mis⁴		0	--	--	--	--
VAR_005035⁴	Gastric cancer (GASC)⁴	--	see VAR_005035	2	G C	mis⁴		0	--	--	--	--
VAR_017655⁴	Medulloblastoma (MDB)⁴	--	see VAR_017655	2	S G	mis⁴		0	--	--	--	--
VAR_005052⁴	Gastric cancer (GASC)⁴	--	see VAR_005052	2	V A	mis⁴		0	--	--	--	--
VAR_005037⁴	Colorectal tumor⁴	--	see VAR_005037	2	S Y	mis⁴		0	--	--	--	--

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

Structural Variations
Database of Genomic Variants (DGV) 3 variations for APC: About this table

Variant ID	Type	Subtype	PubMed ID
nsv4959	CNV	Insertion	18451855
nsv462387	CNV	Loss	19166990
nsv830450	CNV	Gain	17160897

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 Id	AA Change
19033	p.P1372fs*2
18999	p.L1488fs*19
41618	p.L1488fs*18
25826	p.S1346*
18822	p.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

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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

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)
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)
Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. (PubMed id 1651563)^{1, 2, 3, 9} Nishisho I....Hedge P. (1991)
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)
APC and CTNNB1 mutations are rare in sporadic ependymomas. (PubMed id 16843107)^{1, 4, 9} Onilude O.E....Clifford S.C. (2006)
[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)
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)
[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)
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)
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

		AND	OR
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

Name	Description
PharmGKB entry for APC	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for APC	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/APC
SHMPD	http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=APC
Wikipedia	http://en.wikipedia.org/wiki/APC_%28gene%29

Intellectual Property for APC gene
(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
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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LUNG TUMOR
familial adenomatous polyposis
Microsatellite Instability
Retinoblastoma
Pituitary Tumors
GASTRIC TUMOR
Gastrinoma
dysplasia
Polyps
Colitis Ulcerative
COLON CARCINOMA
Multiple tumors
RECTAL POLYP
Breast Cancer
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somatic mutations
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Adenoma Villous
Osteoma
mammary tumor
GASTRIC CARCINOMA
Colorectal Neoplasms
Precancerous lesions
polyposis
Colorectal Cancer
Lynch Syndrome
CNS tumors
Germ-Line Mutation
Thyroid Neoplasms
TUMOR LIVER
Rectal Cancer
POLYPS JUVENILE
Hypertrophy
Pseudohypoparathyroidism
prostate cancer
Tumors
FIBROUS DYSPLASIA
Metastasis
Hepatoblastoma
COLON TUMOR
Intestinal Polyps
Gastric Cancer
Barrett Esophagus
Gardners Syndrome
Adenoma Adrenocortical
Brain Tumors
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ESOPHAGEAL CARCINOMA
Medulloblastoma
JUVENILE POLYPOSIS SYNDROME
nonfunctioning pituitary tumor
Adenomatous Polyps
PITUITARY ADENOMA
Peutz-Jeghers Syndrome
Fibromatosis
Carcinoma
TURCOT SYNDROME
Acromegaly
Thyroid Cancer
GASTROINTESTINAL TUMOR
Duodenal polyp
Allelic Loss
Gallbladder Cancer
HEPATOCELLULAR CARCINOMA
THYROID PAPILLARY CARCINOMA
desmoid tumor
POLYPOSIS, GASTRIC
THYROID ADENOMA
Carcinoma Mucinous
Cancer Syndromes Hereditary
Adenoma
hyperfunction
Carcinoma Squamous Cell
Colorectal Tumors
Puberty Precocious
Adenoma Hepatocellular
Allelic Imbalance
Fibrous Dysplasia Polyostotic
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for APC gene

Genomic Views
for APC gene

Proteins
for APC gene

Protein Domains /
Families
for APC gene

Function
for APC gene

Pathways & Interactions
for APC gene

Drugs & Compounds
for APC gene

Transcripts
for APC gene

Expression
for APC gene

Orthologs
for APC gene

Paralogs
for APC gene

Genomic Variants
for APC gene

Disorders / Diseases
for APC gene

Publications
for APC gene

Intellectual Property
for APC gene

Products
for APC gene