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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

APC Gene

protein-coding GIFtS: 73
GCID: GC05P112101

adenomatous polyposis coli

(Previous name: adenomatosis polyposis coli )

Explore 178 diseases affiliated with
APC via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Adenomatous Polyposis Coli¹ ²		GS² ⁵
DP2.5¹ ² ³		Adenomatosis Polyposis Coli¹
DP2¹ ²		Adenomatosis Polyposis Coli Tumor Suppressor²
DP3¹ ²		Adenomatous Polyposis Coli Protein²
PPP1R46¹ ²		Protein Phosphatase 1, Regulatory Subunit 46²
Deleted In Polyposis 2.5² ³		Protein APC³
BTPS2² ⁵		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:

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)

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)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.1 NT_034772.6

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 ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

Phosphorylated by GSK3B¹

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

ZRANB1/TRABID¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P25054

APC Protein expression data from MOPED and PaxDb: 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 ENSP00000413133

Reactome Protein details: P25054
Human Recombinant Protein Products for APC:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Novus Biologicals APC Protein Novus Biologicals APC Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for APC

Gene Ontology (GO): 5/23 cellular component terms (GO ID links to tree view) (see all 23): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000776	kinetochore	IDA	11283619
GO:0005634	nucleus	IDA	12072559
GO:0005737	cytoplasm	IDA	--
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:

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	GenScript Custom Assay Services for APC
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for APC

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

APC for domains About GeneDecksing

5/11 InterPro domains/families (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 family: 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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	--
GO:0008013	beta-catenin binding	IPI	7890674
GO:0008017	microtubule binding	IDA	16188939
GO:0019887	protein kinase regulator activity	IDA	11972058
GO:0019901	protein kinase binding	IPI	8638126

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:
     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 - Customizable classic, inducible, and humanized mouse model solutions for APC

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

		OriGene 3'-UTR Clone (see all 3): APC Browse MicroRNA Expression Plasmids
		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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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, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/29 super-pathways (see all 29) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Wnt Signaling Pathway

Wnt Signaling Pathway	1.00	Wnt Signaling Pathway	0.33
Wnt Signaling Pathway and Pluripotency	0.55	Wnt signaling pathway	0.30
DNA damage response (only ATM dependent)	0.35	Wnt Signaling Pathway NetPath	0.22

Ubiquitinated Orc1 is degraded by the proteasome

	Degradation of beta-catenin by the destruction complex	0.72			Degradation of ubiquitinated -beta catenin by the proteasome	0.72
	Signaling by Wnt	0.72			Apoptosis	0.31

Apoptotic cleavage of cellular proteins

Apoptotic cleavage of cellular proteins

1.00

Apoptotic execution phase

0.73

Integrated Pancreatic Cancer Pathway

Integrated Pancreatic Cancer Pathway

1.00

Integrated Pancreatic Cancer Pathway

0.99

Nanog in Mammalian ESC Pluripotency

Nanog in Mammalian ESC Pluripotency

1.00

GSK3 Signaling

0.61

Pathway sources
See GeneCards unified pathways
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

5/15 BioSystems Pathways for APC (see all 15)

	Wnt Signaling Pathway and Pluripotency
	Wnt Signaling Pathway
	Irinotecan Pathway
	DNA damage response (only ATM dependent)
	Integrated Pancreatic Cancer Pathway

5/8 Reactome Pathways for APC (see all 8)

	Apoptotic execution phase
	Signaling by Wnt
	Degradation of beta-catenin by the destruction complex
	Apoptosis
	Degradation of ubiquitinated -beta catenin by the proteasome

5/6 Kegg Pathways (Kegg details for APC) (see all 6):

	Wnt signaling pathway
	Regulation of actin cytoskeleton
	Pathways in cancer
	Colorectal cancer
	Endometrial 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)

5/469 Interacting proteins for APC (P25054^{1, 2, 3} ENSP00000257430⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 469)

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): 5/63 biological process terms (GO ID links to tree view) (see all 63): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000281	cytokinesis after mitosis	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, 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 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 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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)

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		hsa-miR-579 hsa-miR-520e hsa-miR-300 hsa-miR-374a hsa-miR-519a hsa-miR-3916 hsa-miR-502-3p hsa-miR-3161

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat APC

Additional cDNA 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 BF590515 D49676 BM723345 BU629028 F06864 BU618167 BF001542

R39002 AA829998 BG108327 AI566022 F02012 BM930344 F13412 F11337

T72565 F05691 AA344032 BX100792 BM977243 F12582 F01843 CA312933

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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

APC expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Liver

Liver Lobule

Periportal Hepatocytes

Liver

Paraxial Mesoderm

Paraxial Mesoderm Cells

Mesoderm

Eye

Retina

Eye

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

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 genome-wide validated SYBR primer pairs in human, mouse, rat for APC Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat APC
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat APC

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 6/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
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	-- --	--	95(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...	18(a)	possible ortholog	I(8050038-8055469)

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 25 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, UniProtKB, 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	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs459552^1,2	C,F,O,A,H	non-pathogenic	112176756(-)	`TGAAGT/ACCTTG`	6	/D /V	mis¹ ese³		42		MN NA NS EA WA CSA EU	8811
rs137854567^1,2	C,F	pathogenic	107334073(+)	`AGATAC/TGCGCT`	6	R C	mis¹		2		NA EU	5871
rs137854580^1,2	C	pathogenic	107341994(+)	`TAAGAC/G/TGATAT`	9	R G *	mis¹ stg¹		1		EU	1323
rs137854575^1,2	C,F	pathogenic	107353190(+)	`ACTTAA/C/TAATTT`	9	* Y	stg¹ syn¹		2		NA EU	5701
rs1801155^1,2	C,F	pathogenic	112175211(+)	`AGAAAT/AAAAAG`	6	/K /I	mis¹		3		EU NA	5971
rs121913224^1,2	C	pathogenic	112175218(+)	`AAAGA-/AAAGA TTGGA`	6	DW EKI	fra¹		0	--	--	--	--
rs1801166^1,2	C,F	pathogenic	112175240(+)	`CAGCTG/CAAGAT`	6	/Q /E	mis¹		3		NA EU	5859
rs121913327^1,2	C	other	107354397(+)	`GACTGC/TAGGGT`	6	Q *	stg¹		0	--	--	--	--
rs464338^1,2	C,F,H	other	112064826(+)	`AAATTC/GTCTTA`	1	--	int¹		14		NS EA NA WA CSA	551
rs469336^1,2	C,F,H	other	112066524(+)	`GTGTCC/GAACCT`	1	--	int¹		13		NS EA NA WA CSA	550

HapMap Linkage Disequilibrium report for APC (112043195 - 112181936 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for APC
2 CNVs: 7468 93189
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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

APC for disorders           About GeneDecksing

OMIM gene information: 611731
OMIM disorders: 175100  613659  114550  135290  114500
UniProtKB/Swiss-Prot: APC_HUMAN, P25054

Defects in APC are a cause of familial adenomatous polyposis (FAP) [MIM:175100]; which includes also Gardner

syndrome (GS). FAP and GS contribute to tumor development in patients with uninherited forms of colorectal cancer. FAP

is 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

Defects in APC are a cause of hereditary desmoid disease (HDD) [MIM:135290]; also known as familial

infiltrative fibromatosis (FIF). HDD is an 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

Defects in APC are a cause of medulloblastoma (MDB) [MIM:155255]. MDB is a malignant, invasive embryonal tumor

of the cerebellum with a preferential manifestation in children. Although the majority of medulloblastomas occur

sporadically, some manifest within familial cancer syndromes such as Turcot syndrome and basal cell nevus syndrome

(Gorlin syndrome)

Defects in APC are a cause of mismatch repair cancer syndrome (MMRCS) [MIM:276300]; also known as Turcot

syndrome or brain tumor-polyposis syndrome 1 (BTPS1). MMRCS is an 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

Defects in APC are a cause of gastric cancer (GASC) [MIM:613659]; also called gastric cancer intestinal or

stomach cancer. Gastric cancer is 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

Defects in APC are a cause of hepatocellular carcinoma (HCC) [MIM:114550]. This defect includes also the

disease entity termed hepatoblastoma

20/178 diseases for APC (see all 178): About MalaCards

polyposis adenomatous polyposis coli familial adenomatous polyposis cafe-au-lait spots

fourth cranial nerve palsy apc-associated polyposis conditions cranial nerve palsy peutz-jeghers syndrome

adenoma, periampullary, somatic mutyh-associated polyposis attenuated familial adenomatous polyposis alveolar soft part sarcoma

albright's hereditary osteodystrophy pseudohypoparathyroidism type ia brain tumor-polyposis syndrome 2 pseudomyxoma peritonei

desmoid disease, hereditary mccune albright syndrome gardner syndrome brachydactyly type e

3 diseases from the University of Copenhagen DISEASES database for APC:

Familial adenomatous polyposis Colorectal cancer Adenoma

10/95 Novoseek 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

APC-Associated Polyposis Conditions

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 1575):
(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)
[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)
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)
APC genotype is not a prognostic factor in familial adenomatous polyposis patients with colorectal cancer. (PubMed id 15540296)^{1, 4, 9} Bertario L....Radice P. (2004)
Mutations of the APC (adenomatous polyposis coli) gene. (PubMed id 8111410)^{1, 2, 9} Nagase H. and Nakamura Y. (1993)
Mutations in APC, CTNNB1 and K-ras genes and expression of hMLH1 in sporadic colorectal carcinomas from the Netherlands Cohort Study. (PubMed id 16356174)^{1, 4, 9} Luchtenborg M....de Goeij A.F. (2005)
Identification of FAP locus genes from chromosome 5q21. (PubMed id 1651562)^{1, 2, 9} Kinzler K.W.... Nakamura Y. (1991)
Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations. (PubMed id 15761860)^{1, 4, 9} Kairupan C.F....Scott R.J. (2005)

(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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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)
About This Section

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adenomatous polyposis coli

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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
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NSCLC
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mammary tumor
GASTRIC CARCINOMA
Colorectal Neoplasms
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Colorectal Cancer
Lynch Syndrome
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Germ-Line Mutation
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TUMOR LIVER
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POLYPS JUVENILE
Hypertrophy
Pseudohypoparathyroidism
prostate cancer
Tumors
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Hepatoblastoma
COLON TUMOR
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Barrett Esophagus
Gardners Syndrome
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JUVENILE POLYPOSIS SYNDROME
nonfunctioning pituitary tumor
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Fibromatosis
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TURCOT SYNDROME
Acromegaly
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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
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adenomatous polyposis coli

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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