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APC Gene

protein-coding GIFtS: 71
GCID: GC05P112101

Adenomatous Polyposis Coli

(Previous name: adenomatosis polyposis coli)

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 fourth cranial nerve palsy, and gardner syndrome. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000005.10 NC_018916.2 NT_034772.7

Regulatory elements:

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 Chromatin IP Primers for APC

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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)

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

Selected 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:

Phosphorylated by GSK3B¹

Ubiquitinated, leading to its degradation by the proteasome. Ubiquitination is facilitated by Axin.

Deubiquitinated by ZRANB1/TRABID¹

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See APC Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

APC Human Recombinant Protein Products:

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	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate for APC OriGene Custom MassSpec OriGene Custom Protein Services for APC
	GenScript Custom Purified and Recombinant Proteins Services for APC
	Novus Biologicals APC Protein Novus Biologicals APC Lysates
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for APC

APC Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of APC
	R&D Systems Antibodies for APC
	Cell Signaling Technology (CST) Antibodies for APC
	OriGene Antibodies for APC OriGene Custom Antibody Services for APC
	Novus Biologicals APC Antibodies
	Abcam antibodies for APC
	Cloud-Clone Corp. Antibodies for APC
	ThermoFisher Antibody for APC
	LSBio Antibodies in human, mouse, rat for APC

APC Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for APC
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for APC
	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)
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HGNC Gene Families:

ARMC: Armadillo repeat containing

PPP1R: Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits

Selected InterPro protein domains (see all 11):

IPR011989 ARM-like

IPR009224 SAMP

IPR000225 Armadillo

IPR009232 EB1-bd

IPR026831 APC_dom

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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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): Selected molecular function terms (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

Selected MGI mutant phenotypes (inferred from 26 alleles) (MGI details for Apc) (see all 27):

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial
digestive/alimentary	embryogenesis	endocrine/exocrine gland	growth/size/body	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: Let us create your new Knockout/Knockin mouse model for APC

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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-215-5p (MIRT024577), hsa-mir-21-5p (MIRT031054), hsa-mir-148a-3p (MIRT048033), hsa-mir-186-5p (MIRT045069), hsa-mir-210-3p (MIRT003183), hsa-mir-155-5p (MIRT001207), hsa-mir-192-5p (MIRT026886), hsa-mir-27a-3p (MIRT006221), hsa-mir-106b-5p (MIRT007071)

		Block miRNA regulation of human, mouse, rat APC using miScript Target Protectors
		Selected qRT-PCR 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:		OriGene RNAi products in human, mouse, rat for APC
		Predesigned siRNA for gene silencing in human, mouse, rat APC

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for APC

Clone Products:		OriGene clones in human, mouse for APC (see all 13) OriGene ORF clones in mouse, rat for APC OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): APC (NM_001127510)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for APC
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APC

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for APC
		Browse ESI BIO Cell Lines and PureStem Progenitors for APC

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APC

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

APC_HUMAN, P25054: 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

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytoskeleton	5
nucleus	5
plasma membrane	5
cytosol	4

About this image

Gene Ontology (GO): Selected cellular component terms (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

(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for APC About (see all 36)

See pathways by source

SuperPath

Contained pathways About

Wnt signaling pathway (KEGG)

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

Regulation of actin cytoskeleton

Regulation of actin cytoskeleton

0.57

Regulation of Actin Cytoskeleton

0.57

CDK-mediated phosphorylation and removal of Cdc6

	Degradation of beta-catenin by the destruction complex	0.73			Beta-catenin phosphorylation cascade	0.00
	Apoptosis	0.38

Wnt Signaling Pathway (WikiPathways)

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

Apoptotic cleavage of cellular proteins

Apoptotic cleavage of cellular proteins

0.74

Apoptotic execution phase

0.74

Pathways by source See SuperPaths
Show all pathways

1 R&D Systems Pathway for APC

Wnt Signaling Pathways

Selected Downloadable PowerPoint Slides of GeneGlobe 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

Selected BioSystems Pathways for APC (see all 17)

	Wnt Signaling Pathway
	Wnt Signaling Pathway and Pluripotency
	DNA damage response (only ATM dependent)
	Irinotecan Pathway
	Gastric cancer network 1

5 Reactome Pathways for APC

	deactivation of the beta-catenin transactivating complex
	disassembly of the destruction complex and recruitment of AXIN to the membrane
	Apoptotic cleavage of cellular proteins
	Degradation of beta-catenin by the destruction complex
	Beta-catenin phosphorylation cascade

Selected 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

Pathway & Disease-focused RT² Profiler 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

Interactions:

GeneGlobe Interaction Network for APC

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

Selected Interacting proteins for APC (P25054^{1, 2, 3} ENSP00000257430⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 530)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
DVL1	O14640¹^,²^,³, ENSP00000368169⁴	EBI-727707,EBI-723489 MINT-7897032 MINT-7897055 MINT-7897075 MINT-7897100 I2D: score=1 STRING: ENSP00000368169
CTNNB1	P35222¹^,²^,³, ENSP00000344456⁴	EBI-727707,EBI-491549 MINT-4508229 I2D: score=8 STRING: ENSP00000344456
DVL1P1	P54792¹^,²^,³	EBI-727707,EBI-7848109 MINT-7891084 MINT-7891069 I2D: score=1
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

About this table

Gene Ontology (GO): Selected biological process terms (see all 60): 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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for APC

Selected 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)

APC for compounds About GeneDecksing

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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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:		Block miRNA regulation of human, mouse, rat APC using miScript Target Protectors
		Selected qRT-PCR 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:		OriGene RNAi products in human, mouse, rat for APC
		Predesigned siRNA for gene silencing in human, mouse, rat APC

Clone Products:		OriGene clones in human, mouse for APC (see all 13) OriGene ORF clones in mouse, rat for APC OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): APC (NM_001127510)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for APC
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APC

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for APC
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat APC
		QuantiTect SYBR Green Assays in human, mouse, rat APC
		QuantiFast Probe-based Assays in human, mouse, rat APC

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

Selected AceView cDNA sequences (see all 445):

BQ549628 BE256854 AL706482 BM791285 CA313732 BM723345 AI566022 BM930344

AL535988 AA421913 F01948 BX100792 F05691 BQ182033 AA033768 AA376964

F12582 BM977243 BG985951 BM987992 NM_005083 F09958 BF001542 BI333071

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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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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
selected tissues (see all 11) fully expand


Brain (Nervous System) fully expand to see all 6 entries
Myelinating Oligodendrocyte Cells Forebrain White Matter
Cerebral Cortex

Spinal Cord (Nervous System)
Myelinating Oligodendrocyte Cells Spinal Cord White Matter

Eye (Sensory Organs) fully expand to see all 2 entries
Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
Retina

Epithelial Cells
Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium

Primitive Streak (Early Embryonic Tissues)
Primitive Streak Cells Anterior Primitive Streak

APC Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

APC Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.158932

UniProtKB/Swiss-Prot: APC_HUMAN, P25054

Tissue specificity: Expressed in a variety of tissues

Pathway & Disease-focused RT² Profiler 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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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)
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This gene was present in the common ancestor of animals.

Orthologs for APC gene from Selected 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}	87.53(n)¹ 90.77(a)¹		18 (18.53 cM)⁵ 11789¹ NM_007462.3¹ NP_031488.2¹ 34220924⁵
chicken (Gallus gallus)	Aves	APC¹	adenomatous polyposis coli	80.62(n) 85.48(a)		415607 XM_004949283.1 XP_004949340.1
lizard (Anolis carolinensis)	Reptilia	-- --	Uncharacterized protein	97(a) 82(a)	many ↔ many many ↔ 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	66.85(n) 70.8(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	Protein APR-1, isoform b (apr-1) mRNA, complete cd...	22(a)	1 → many	I(8050043-8055474) WBGene00000156

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)
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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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs137854567^1,2,,4	C,F	Familial adenomatous polyposis (FAP)⁴ pathogenic¹	112435736(+)	`AGATAC/TGCGCT`	6	R C	mis¹		2		NA EU	5871
rs72541816^1,2,,4	C,F	Familial adenomatous polyposis (FAP)⁴ --	112460025(+)	`ATTTTC/GTCCCA`	6	S C	mis¹		7		EU NA	7221
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_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	--	--	--	--

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

Selected Site Specific Mutation Identification with 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*

Selected Site Specific Cancer Mutation PCR Panels containing APC (see all 10):

Breast Cancer

Cancer Comprehensive Panel 384HT

APC/CTNNB1 Pathway

Soft Tissue Tumors

Tumor Suppressor Panel 384HT

2 Copy Number PCR Panels containing APC:

Oncogenes & Tumor Suppressor Genes 384HC

WNT Signaling

SeqTarget long-range PCR primers for resequencing APC

DNA2.0 Custom Variant and Variant Library Synthesis for APC

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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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

Selected diseases for APC (see all 156): About MalaCards

fourth cranial nerve palsy gardner syndrome familial adenomatous polyposis due to 5q22.2 microdeletion brain tumor-polyposis syndrome 2

desmoid tumor desmoid disease, hereditary familial adenomatous polyposis hepatoblastoma, somatic

adenoma, periampullary, somatic apc-associated polyposis conditions intestinal neoplasm hepatoblastoma

cranial nerve palsy attenuated familial adenomatous polyposis fibrous dysplasia medulloblastoma

brachydactyly type e nonpapillary renal cell carcinoma mutyh-associated polyposis turcot syndrome

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:
The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

Selected 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)
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PubMed articles for APC gene, integrated from 10 sources (see all 1628):
(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. (Proc. Natl. Acad. Sci. U.S.A. 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. (Clin. Genet. 2000)
Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. (PubMed id 1651563)^{1, 2, 3, 9} Nishisho I.... Vogelstein B. (Science 1991)
Relative role of APC and MUTYH mutations in the pathogenesis of familial adenomatous polyposis. (PubMed id 19593690)^{1, 4, 9} Pezzi A....Ponz De Leon M. (Scand. J. Gastroenterol. 2009)
APC and CTNNB1 mutations are rare in sporadic ependymomas. (PubMed id 16843107)^{1, 4, 9} Onilude O.E....Clifford S.C. (Cancer Genet. Cytogenet. 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. (Yi Chuan 2003)
Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations? (PubMed id 19531215)^{1, 4, 9} GA^mez-FernA!ndez N....Ruiz-Ponte C. (BMC Med. Genet. 2009)
[Polymorphism/loss of heterozygosity of APC gene in GERD-Barrett's metaplasia-dysplasia-adenocarcinoma sequence]. (PubMed id 19606680)^{1, 4, 9} Mokrowiecka A....Malecka-Panas E. (Pol. Merkur. Lekarski 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. (Cancer Genet. Cytogenet. 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} KapitanoviA8 S....PaveliA8 K. (Exp. Mol. Pathol. 2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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)
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Entrez Gene: 324	HGNC: 583	AceView: APCandSRP19andU2AF1L1	Ensembl:ENSG00000134982	euGenes: HUgn324
ECgene: APC	Kegg: 324	H-InvDB: APC

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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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/books/NBK1116/?term=APC[genesymbol]
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.)

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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

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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
Metaplasia
primary tumor
NSCLC
Adenocarcinoma
Cancer
premalignant
Colorectal Carcinoma
somatic mutations
Epidermoid Cyst
Colonic Polyps
ADENOCARCINOMA GASTRIC
APC-Associated Polyposis Conditions
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
Colon Cancer
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
Inflammatory polyp
Intestinal Neoplasms
Intestinal Cancer
Chromosomal Aberrations
stromal tumors
Cholera
genetic disorder
THYROID CARCINOMA
Endometrial Cancer

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for APC gene

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for APC gene

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for APC gene

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for APC gene

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for APC gene

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for APC gene

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for APC gene

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for APC gene

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for APC gene

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for APC gene