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APC Gene

protein-coding GIFtS: 76

GC05P112101

adenomatous polyposis coli
(Previous name: adenomatosis polyposis coli )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases & Descriptions
adenomatous polyposis coli¹ ²		BTPS2² ⁵
DP2.5¹ ² ³		adenomatosis polyposis coli¹
DP3¹ ²		adenomatous polyposis coli protein²
DP2¹ ²		adenomatosis polyposis coli tumor suppressor²
Deleted in polyposis 2.5² ³		Protein APC³
GS² ⁵		FPC⁵

External Ids:	HGNC: 583¹	Entrez Gene: 324²	Ensembl: ENSG00000134982⁷	UniProtKB: P25054³

Search outside databases for aliases for APC gene

Previous GC identifers: GC05P111687 GC05P112537 GC05P112074 GC05P112149

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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)

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

Gene Wiki entry for APC

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC and Ensembl (release 56), Regulatory elements and Epigenetics data according to SABiosciences)
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Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the APC gene upstream (promoter) region

:
c-Myc Max1 HNF-4alpha2 C/EBPbeta Sox9 NF-1 Max COUP-TF1 Cdc5 p300

Epigenetics:

SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for APC:

MePH28469-1A

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)

GeneLoc gene densities for chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05P112101: view genomic region (about GC identifiers)

Start:	112,043,218 bp from pter
End:	112,181,936 bp from pter
Size:	138,719 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000005.9 NT_034772.6

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene, Novus Biologicals, and/or Sino Biological,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 May 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abnova, OriGene, Novus Biologicals, and/or Epitomics)
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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

Subcellular location: Cell junction, adherens junction. Note=Associated with the microtubule network at the growing

distal tip of microtubules

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

PDB structures from and Proteopedia :

1DEB (3D)

1EMU (3D)

1JPP (3D)

1M5I (3D)

1T08 (3D)

1TH1 (3D)

1V18 (3D)

Secondary accessions: Q15162 Q15163 Q93042

Alternative splicing: 2 isoforms: P25054-1 P25054-2

Post-translational modifications:

Phosphorylated by GSK3B¹

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

ZRANB1/TRABID¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (3 alternative transcripts):

NP_000029.2 NP_001120982.1 NP_001120983.1

ENSEMBL proteins:

ENSP00000378979 ENSP00000413133 ENSP00000257430

Human Recombinant Proteins

	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Enzo Life Sciences proteins for APC
	HuPro® and/or Recombinant Proteins from Abnova for APC
	Browse Origene full length recombinant human proteins expressed in human HEK293 cells
	Novus Biologicals Protein for APC
	Browse Sino Biological Recombinant Proteins

5/15 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 15 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000776	kinetochore	IDA	11283619
GO:0005634	nucleus	IDA	11035805 12072559 12955080
GO:0005737	cytoplasm	IDA	11035805 12955080
GO:0005813	centrosome	IDA	11283619
GO:0005829	cytosol	EXP	11955436 12000790 12820959 15327769 16753179

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APC for ontologies About GeneDecksing

Antibodies for APC:

	Millipore Mono- and Polyclonal Antibodies for the study of APC
	Sigma-Aldrich Antibodies for APC
	R&D Systems Antibodies for APC
	Cell Signaling Technology (CST) Antibodies for APC
	Monoclonal and Polyclonal Antibodies from Abnova (APC)
	Origene Antibodies: APC
	Novus Biologicals Antibodies for APC
	Epitomics antibodies for APC

Assays for APC:

	Millipore Kits and Assays for the Analysis of APC
	Browse ELISAs at Sigma-Aldrich
	Browse R&D Systems for biochemical assays
	Enzo Life Sciences assays for APC

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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APC for domains About GeneDecksing

5/8 InterPro domains/families (see all 8 ):

IPR011989 ARM-like

IPR009224 SAMP

IPR000225 Armadillo

IPR009232 EB1_bd

IPR009234 APC_basic

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 MGI May 08 2010, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, Abnova, siRNAs from Applied Biosystems, Sigma-Aldrich, Clones from Millipore, Sigma-Aldrich, OriGene, Sino Biological, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene.)
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Inhib. RNA:		Millipore RNAi Products for the Analysis of APC Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (APC)
		Origene 29mer shRNA kits in GFP-retroviral vector: APC Origene shRNA RFP: APC Origene basic RS shRNA: APC
		Applied Biosystems Silencer® siRNAs for APC
		Sigma-Aldrich siRNA Panels and siRNA for APC Sigma-Aldrich shRNA Panels and shRNA for APC Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
		Browse iPSC Reprogramming Factors at Sigma-Aldrich
		Origene GFP tagged cDNA clones in CMV expression vector (see all 3): APC Origene Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): APC Origene untagged cDNA clones in CMV expression vector (see all 3): APC
		Sino Biological Human cDNA Clone for APC

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

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

5/8 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 8 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005488	binding	--	--
GO:0005515	protein binding	IPI	9601641 10656683 10947987 11283619 11389840 11943150 11972058 16293619 16611247 17218255 17588722 18281465 18502210
GO:0008013	beta-catenin binding	IPI	7890674 10773885 11533658
GO:0008017	microtubule binding	IDA	11166179 16188939
GO:0019887	protein kinase regulator activity	IDA	11972058

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APC for ontologies About GeneDecksing

Animal Models: 15/30 MGI mutant phenotypes (inferred from 22 alleles) (MGI details for Apc) (see all 30 ):

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	lethality-postnatal	lethality-prenatal/perinatal

APC for phenotypes About GeneDecksing

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, Applied Biosystems GeneAssist, KEGG and/or UniProtKB, (map by GeneGo),
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene).
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APC for pathways About GeneDecksing

1 Millipore Pathway for APC

Selected targets of p53

5/14 Sigma-Aldrich "Your Favorite Gene" Pathways for APC (Your Favorite Gene powered by Ingenuity) (see all 14 )

	Basal Cell Carcinoma Signaling
	Role of Osteoblasts, Osteoclasts and Chondrocytes in Rheumatoid Arthritis
	Human Embryonic Stem Cell Pluripotency
	Cdc42 Signaling
	Role of NANOG in Mammalian Embryonic Stem Cell Pluripotency

5/13 GeneAssist Pathways for APC (see all 13 )

	Presenilin-Mediated Signaling
	Nanog in Mammalian ESC Pluripotency
	G12-G13 in Cellular Signaling
	Reelin Pathway (Cajal-Retzius cells)
	Factors Promoting Cardiogenesis in Vertebrates

1 Cell Signaling Technology (CST) Pathway for APC:

Wnt/b-Catenin Signaling

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

	hsa04310 Wnt signaling pathway
	hsa04810 Regulation of actin cytoskeleton
	hsa05200 Pathways in cancer
	hsa05210 Colorectal cancer
	hsa05213 Endometrial cancer

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for APC

5/93 Interacting proteins for APC (ENSP00000257430³ P25054^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 93 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CSNK1E	P49674¹	STRING: ENSP00000352929 EBI-727707,EBI-749343
MAPRE1	Q15691¹	STRING: ENSP00000364721 EBI-727707,EBI-1004115
CTNNB1	P35222²	STRING: ENSP00000344456 MINT-4508229
SCRIB	Q14160²	MINT-6732435 MINT-6732421 MINT-6732428 MINT-6732416
AXIN1	O15169²	MINT-7025780

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5/49 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 49 ):

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:0006974	response to DNA damage stimulus	IDA	14728717

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APC for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
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APC for compounds About GeneDecksing

Enzo Life Sciences drugs & compounds for APC

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for APC
10/335 Novoseek chemical compound relationships for APC gene (see all 335 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
glycogen	100.00	251	19339242 (9), 17878227 (7), 10081651 (6), 9003374 (5) (see all 100)
adenylate	50.13	135	8498529 (3), 2991940 (3), 2825031 (3), 8645237 (2) (see all 100)
phip	27.55	34	7846077 (4), 12034317 (4), 11420398 (4), 9631495 (2) (see all 21)
1-glcnac	17.42	8	7487940 (6), 9371733 (2)
sulindac	17.13	23	19755659 (5), 8707116 (4), 12458338 (4), 11535846 (3) (see all 9)
azoxymethane	16.25	23	9450492 (4), 15517863 (4), 12049812 (3), 11076880 (3) (see all 11)
guanine	10.39	33	9892661 (1), 9843907 (1), 9465918 (1), 9139798 (1) (see all 33)
gtp gamma s	6.65	16	2981206 (2), 2890639 (2), 2843625 (2), 9762414 (1) (see all 13)
glucose 6-phosphate	6.47	15	10233043 (5), 12519761 (3), 18003720 (2), 10212841 (2) (see all 7)
aicar	5.89	9	15561936 (3), 17945190 (2), 17122373 (2), 17167773 (1) (see all 5)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 223 Homo sapiens; Apr 2 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from SABiosciences,
Tagged/untagged cDNA clones from OriGene, Primers from OriGene and/or SABiosciences,
Expression Assays from Applied Biosystems)
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Inhib. RNA:		Millipore RNAi Products for the Analysis of APC Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (APC)
		Applied Biosystems Silencer® siRNAs: NM_000038 NM_001127510 NM_001127511
		Origene 29mer shRNA kits in GFP-retroviral vector: APC Origene shRNA RFP: APC Origene basic RS shRNA: APC
		Sigma-Aldrich siRNA Panels and siRNA for APC Sigma-Aldrich shRNA Panels and shRNA for APC Explore Sigma-Aldrich super-pooled esiRNAs

microRNA:		10/19 SABiosciences microRNAs that regulate APC (see all 19 ):
		hsa-miR-142-3p hsa-miR-448 hsa-miR-125a-5p hsa-miR-450a hsa-miR-496 hsa-miR-30a* hsa-miR-374a hsa-miR-125b hsa-miR-155 hsa-miR-330-3p

Assays:

Applied Biosystems TaqMan® Gene Expression Assays:

NM_000038 NM_001127510 NM_001127511

Clones:

Origene GFP tagged cDNA clones in CMV expression vector (see all 3): APC
Origene Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): APC
Origene untagged cDNA clones in CMV expression vector (see all 3): APC

Primers:		Origene genome-wide validated SYBR primer pairs: APC
		SABiosciences RT2 qPCR Primer Assay for APC: PPH00070A

REFSEQ mRNAs for APC gene (3 alternative transcripts):

NM_000038.4 NM_001127510.1 NM_001127511.1

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.40310104 DT.120809542 DT.99981468 DT.95121675 DT.99962531 DT.119384 DT.95374795 DT.120809704

DT.120809770 DT.408957 DT.452608 DT.449103 DT.91757887 DT.100721411 DT.432665

24/445 AceView cDNA sequences (see all 445 ):

AA421913 BQ549628 BQ423807 CB158849 F04846 AA151217 M79108 F09958

CB990609 AI907587 BM987992 F06453 F12337 BM791285 H08657 AA033768

F01948 BC000186 AI521838 BU155251 M74088 AL706482 BP360258 BQ549147

highest scoring ESTs for APC:

M73548 M74088 AA836454 AW894752 AW976360 BI048425 BM152810 BM675951 BM676517 N22331

Unigene Cluster for APC:

Adenomatous polyposis coli

Hs.158932 [show with all ESTs]

Unigene Representative Sequence: NM_001127511

GeneLoc Exon Structure

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

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5	^	6a	·	6b	^	7	^	8	^	9	^	10	^	11	^	12	^	13a	·	13b	^	14	^	15a	·	15b	^	16	^	17
SP1:																																					-
SP2:					-
SP3:

About this scheme

ECgene alternative splicing isoforms for APC

3 Ensembl transcripts including schematic representations:

ENST00000395617 ENST00000457016 ENST00000257430

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 223 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems, Primers from OriGene and/or SABiosciences )
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APC expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for APC

¹ / ² / ³

13 probe-sets matching APC gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
1912_s_at²^{, 3}	U95-A	1	1.00	1.00	0.93	1.42	M74088	1.00	0.77	0.89	1
36182_at²^{, 3}	U95-A	1	1.00	1.00	0.97	0.61	M73548	1.00	0.77	0.89	1
35433_s_at²^{, 3}	U95-A	1	0.38	1.00	-0.46	0.54	AF038181	0.60	0.78	0.69	1
203526_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	M74088	1.00	0.77	0.89	1
203525_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AI375486	0.80	0.83	0.82	1
203527_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000038	0.60	0.78	0.69	1
216933_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	S67788	0.40	1.00	0.76	1
215310_at²^{, 3}	U133-A	1	0.27	1.00	--	--	AF038181	0.60	0.78	0.69	1
203526_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
203525_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
203527_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
216933_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
215310_at²	U133Plus2	1	0.27	1.00	--	--	--	--	--	--	--

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APC for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
About these images

About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.158932

Expression variation in blood from EXPOLDB for APC

UniProtKB/Swiss-Prot: APC_HUMAN, P25054

Tissue specificity: Expressed in a variety of tissues

Primers:		Origene genome-wide validated SYBR primer pairs: APC
		SABiosciences RT2 qPCR Primer Assay for APC: PPH00070A

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI May 08 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for APC gene from 5/8 species (see all 8 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	APC¹	--	adenomatous polyposis coli	89.25(n) 92.69(a)	479139 XM_536285.2 XP_536285.2
chimpanzee (Pan troglodytes)	APC¹	--	adenomatous polyposis coli	99.66(n) 99.51(a)	461999 XM_001143813.1 XP_001143813.1
rat (Rattus norvegicus)	Apc¹	--	adenomatous polyposis coli	86.12(n) 90.27(a)	24205 NM_012499.1 NP_036631.1
mouse (Mus musculus)	Apc^{1, 5}	18 (15.00 cM)⁵	adenomatosis polyposis coli^{1, 5}	87.55(n)¹ 90.8(a)¹	11789¹ NM_007462.2¹ NP_031488.2¹ AA855420⁵ AI047805⁵ (see all 30)
chicken (Gallus gallus)	APC¹	--	adenomatous polyposis coli	79.17(n) 84.08(a)	415607 XM_001233410.1 XP_001233411.1

About this table Species with no ortholog for APC

ENSEMBL Gene Tree for APC

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for APC gene

APC2²

APC for paralogs About GeneDecksing

(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Genotyping Reagents from Applied Biosystems)
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10/67 NCBI SNPs in APC are shown (see all 67 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 236)

AB	SNP ID	Valid	Chr 5 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Related Data				Allele Frequencies
				--	--	--		--	--			--
	rs459552^1,2	C,F,O,A,H	112176756(-)	`TGAAGT/ACCTTG`	6	/D /V	mis¹ ref¹ ese³		24	MN NA NS EA	1858
	rs448475^1,2	C,F,O,A,H	112181379(-)	`TATAAC/GGGGAC`	3	--	ut3¹ ese³		11	MN NA EA	850
	rs433429^1,2	C,F,O,A,H	107361331(+)	`TAGAGT/ATAGTG`	3	--	ng3¹		9	NA EA WA	358
	rs386830^1,2	C,F,A,H	107361477(-)	`AACTCT/CTGACT`	3	--	ng3¹		8	NA EA WA	356
	rs397768^1,2	C,F,A,H	112181576(+)	`GGGAGA/GGAAAA`	3	--	ut3¹ ese³ trp³		8	MN NA EA WA	538
	rs12189^1,2	C,F,A,H	112180257(+)	`TGAGTC/TCATCT`	3	--	ut3¹ ese³		9	MN NS EA NA WA	792
	rs41116^1,2	C,F,A,H	112180921(+)	`TTTAAC/TATTTT`	3	--	ut3¹		7	NA EA	306
--	rs377860^1,2	C,H	112175399(-)	`ACTTTT/GGGGTG`	6	/K /Q	ref¹ mis¹ ese³		4	NS EA	406
	rs41115^1,2	C,F,O,A,H	112175770(-)	`CTTTCC/TGTGGC`	6	T	syn¹ ref¹ ese³		22	MN EA NA NS WA	1726
	rs42427^1,2	C,F,A,H	112176325(+)	`GGAGGA/GGCACA`	6	G	syn¹ ref¹ ese³ trp³		17	MN NA NS EA WA	1140

About this table

HapMap Linkage Disequilibrium images for APC (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for APC
2 CNVs: 7468 93189

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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APC for disorders About GeneDecksing

OMIM: 611731

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

10/556 Novoseek disease relationships for APC gene (see all 556 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
colorectal cancer	100.00	375	8835324 (6), 17043967 (6), 9950360 (5), 9330602 (5) (see all 100)
adenomatous polyposis coli	100.00	1629	10545404 (14), 19928349 (13), 20144988 (12), 18160396 (12) (see all 100)
somatic mutation	100.00	103	11450991 (5), 14654913 (4), 9377578 (3), 8242071 (3) (see all 76)
germline mutation	100.00	221	16317745 (5), 16088911 (5), 10398435 (5), 19531215 (4) (see all 100)
adenoma	85.62	167	12584170 (6), 12673484 (5), 12584168 (5), 20196079 (4) (see all 100)
polyposis	74.81	69	17568392 (6), 11867715 (5), 8835324 (3), 8968744 (2) (see all 50)
colorectal tumor	72.80	68	10921028 (3), 10737795 (3), 9724771 (2), 8649856 (2) (see all 60)
colorectal adenoma	61.69	59	15937958 (7), 9724771 (3), 12537656 (3), 11001924 (3) (see all 40)
desmoid tumor	53.51	54	15793634 (6), 20063100 (4), 9744495 (3), 8968744 (3) (see all 31)
microsatellite instability	52.95	80	17704924 (6), 12163385 (3), 9924427 (2), 9330602 (2) (see all 62)

About this table

GeneTests: APC

APC-Associated Polyposis Conditions

Locus Specific Mutation Databases: APC
Human Gene Mutation Database: APC
Genetic Association Database: APC
Human Genome Epidemiology Navigator: APC (206 documents)
Tumor Gene Database: APC
Breast Cancer Gene Database: APC

(Possibly Related Articles in Doctor's Guide)
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(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/1892 PubMed articles for APC gene (see all 1892 ):

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, 3, 4, 6} Couture J.... Bapat B. (2000)
The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history. (PubMed id 9724771)^{1, 3, 4, 6} Frayling I.M.... Tomlinson I.P.M. (1998)
Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. (PubMed id 1651563)^{1, 2, 3, 4} Nishisho I....Hedge P. (1991)
APC gene loss of heterozygosity, mutations, E1317Q, and I1307K germ-line variants in sporadic colon cancer in Croatia. (PubMed id 15507235)^{1, 3, 6} Kapitanovic S....Pavelic K. (2004)
[The I1307K mutation and protein expression of APC gene in gastric cancer] (PubMed id 15639864)^{1, 3, 6} Sun X.J....Sun K.L. (2003)
Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition. (PubMed id 9950360)^{1, 3, 4} Wallis Y.L.... Macdonald F. (1999)
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, 3, 6} Luchtenborg M....de Goeij A.F. (2005)
APC genotype is not a prognostic factor in familial adenomatous polyposis patients with colorectal cancer. (PubMed id 15540296)^{1, 3, 6} Bertario L....Radice P. (2004)
Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations. (PubMed id 15761860)^{1, 3, 6} Kairupan C.F....Scott R.J. (2005)
APC I1307K and the E1317Q variants are not present in Chinese colorectal cancer patients. (PubMed id 15266213)^{1, 3, 6} Guo J....Lee S.C. (2004)

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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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for APC	Genetics and Cytogenetics in Oncology and Haematology
GeneDis	http://www.tau.ac.il/lifesci/bioinfo/genedis/apc/apc.html
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
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Patent Information for APC gene:

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Clones available from OriGene, Sigma-Aldrich, Sino Biological, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience)
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Products for APC:

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apc gene inactivation
xeroderma pigmentosum group a
herpes
malformation
lung tumor
malignant pleural effusion
relapse
myelofibrosis
hyperthyroid
flat adenoma
h pylori infection
gastrinoma
prothrombin gene mutation
actinic keratosis
autosomal dominant hereditary disorder
braf gene mutation
mlh1, hypermethylation
atherosclerosis
nonsense mutation
polyp benign
metaplasia
colorectal adenocarcinoma
neuroblastoma
apoa1
age-related macular degeneration
failure heart
lymphoma
pancreatic endocrine tumor
prolapse; rectal
cholecystitis chronic
gastric mucosal lesion
pancreatoblastoma
arterial thrombosis
intestinal metaplasia
b; hemophilia
small intestinal polyp
5q deletion
metastasis
endoreduplication
adenocarcinoma endometrial
necrosis
stage i nsclc
hypocalcemia
thrombocytosis
thyroiditis
prostate tumor
vasculitis
chromosomal rearrangement
arteritis
intestinal polyposis
pilomatricoma
b-cell lymphoma
hypotension, orthostatic
retinal lesion
osteosarcoma
anal squamous cell carcinoma
antithrombin iii deficiencies
muir-torre syndrome
cmv infection
beta-thalassemia
endocrinopathy
tumor initiation
supernumerary teeth
multiple adenomatous polyps
aging; premature
desmoid tumor
msi-h
esophageal adenocarcinoma
pituitary tumor
functioning pituitary adenoma
medullary thymoma
benign tumor
fibromatoses
gene abnormality
helicobacter infection
strabismus
invasive breast cancer
escc
peritonitis
disorder; growth
lupus erythematosus systemic
hepatocarcinogenesis
central precocious puberty
breast-ovarian cancer
mesothelial hyperplasia
protein s deficiencies
fibrosa; osteitis
distortion
NF1
inflammatory disease
adenocarcinoma lung
stromal tumor
insulin sensitivity
malignant myoepithelioma
breast cancer
infarction; myocardial
antiphospholipid syndrome
carcinoma transitional cell
tumor promotion
chromosomal aberration
colonic adenoma
effusion
recurrent miscarriage
ebv infection
nonfunctioning pituitary adenoma
anemia; fanconi
intraepithelial carcinoma
hyperglycemia
cervical cancer
cancer other
venous thrombosis (limbs)
lens; opacity
bone marrow toxicity
neuroendocrine tumor
colon; lesion
hepatoblastoma
dlbcl
replication error
mucosal inflammation
medulloblastoma
glioma
cancer gene mutation
carcinoma; renal cell
focal nodular hyperplasia
genetic syndrome
disorder; metabolic
ovary; polycystic (syndrome)
hereditary spherocytosis
polycythemia vera
anastomosis
insulin resistance
borderline ovarian tumor
osteogenesis imperfecta
delay; developmental
colonic hyperplastic polyp
polypoid hyperplasia
von willebrand
jugular vein internal thrombosis
endometrial cancer
brca1 mutation
juvenile polyposis coli
intrahepatic cholangiocarcinoma
adenoid cystic carcinoma
embolism pulmonary
dysplasia
tumor growth
essential thrombocythemia
msi-l
activated protein c resistance
edema
cell cycle deregulation
mosaicism
cancer
insertion mutation
periampullary tumor
cutaneous melanoma
perthes disease
invasive lobular carcinoma
ependymoma
precancerous lesions
atrial premature complex
pnets
alveolar soft part sarcoma
colorectal adenoma
hamartomatous polyp
cribriform carcinoma
brain tumor
multiple endocrine neoplasia type 1
chronic gastritis
pheochromocytoma
celiac disease
acrodysostosis
testotoxicosis
adenoma; hepatocellular
peutz-jeghers
urogenital cancer
lipoma
hyperplasia
factor v leiden heterozygote
ovarian hyperstimulation
RA
gene insertion
brca2 mutation
turcot syndrome
infarct
septic shock
ampullary carcinoma
leukemia
PPHP
gigantism
ovarian failure premature
duodenal polyp
mixed germ cell tumor
acinic cell carcinoma
pancreatic cancer
lentiginosis
small intestinal adenocarcinoma
polycystic kidney disease
giardiasis
carcinoma gallbladder
ischemic stroke
autoimmune
invasive growth
mccune-albright syndrome
acquired hemophilia
malignant pleural mesothelioma
familial cancer
hereditary cancer syndrome
inflammatory response
acanthoma
dementia
adenomatous polyp
microsatellite instability
retinoblastoma
hyperinsulinemia
protein c deficiencies
gynecologic tumor
hyperlipidemia
neuroepithelial tumor
temperature-sensitive mutation
ischemia
diabetes; type 2
gastric adenoma
cervical lesion
asthma
disease; urological
advanced cancer
seminoma
venous thromboembolism
undifferentiated gastric carcinoma
extra-abdominal desmoid tumor
adenocarcinoma gastric
APC-Associated Polyposis Conditions
osteoma
replication error phenotype
chronic hyperglycemia
pten hamartoma tumor syndrome
severe sepsis
chemical carcinogenesis
deletion syndrome
atypical endometrial hyperplasia
hepatitis b
pseudohypoparathyroidism
clear cell carcinoma
malignant mesothelioma
thromboembolic event
soft tissue tumor
sarcoma
cerebral venous thrombosis
hypersensitivities
genomic instabilities
cervical cancer stage ib
adrenocortical tumor
invasive carcinoma
mammary adenocarcinoma
duodenal adenoma
oligodendroglioma
bacterial infection
thrombosis venous
acromegaly
colorectal polyp
ovarian endometrioid carcinoma
gardner syndrome
familial disease
neurodegeneration
carcinoid
laryngeal squamous cell carcinoma
ALS
acute inflammatory response
colonic polyp
anticoagulants; increased
tumorigenicity
septicemia
intussusception
intestinal tubulovillous adenoma
allelic imbalance
stroke
liver metastases
ovarian tumor
hot spots
pigmentosa; retinitis
renal tumor
synovial sarcoma
benign ovarian tumor
cystitis
germline mutation
turcot syndrome type 2
factor v leiden
aneuploid
neurodegenerative disease
multiple tumors
arteriopathy
hypertrophy; ventricular; left
gene fusion
small intestine tumor
congenital heart disease
metaplastic carcinoma
brain infarction
ovarian cancer
ALL
cirrhosis (liver)
epithelial proliferation
extrahepatic bile duct carcinoma
localized cancer
DMD
thrombus
reflux
hamartoma
insulinoma
endometrioid tumor
a; hemophilia
merkel cell carcinoma
fibromatosis, familial infiltrative
sex cord-stromal tumor
sclc
fibrous dysplasia
mental retardation
adenomatous polyposis coli
cell injury
serrated adenoma
lymph node metastasis
hepatitis c
neoplastic transformation
adenoma tubular
glycogen deposition
colon cancer
disease; eye
skin dysplasia
malabsorption
middle cerebral artery occlusion
atrial fibrillation
astrocytoma
thyroid cancer
gastrointestinal tumor
abortion (spontaneous)
dependence; opioids
adrenocortical carcinoma
glycogen depletion
uveal melanoma
undifferentiated carcinoma
ctnnb1 gene mutation
cholangiocarcinoma
gastritis
sporadic gastric adenocarcinoma
multiple myeloma
fragile x syndrome
DIC
cerebrovascular disease
leukemogenesis
leiomyosarcoma
stomatitis
vascular disease
myh-associated polyposis
LHON
choriocarcinoma
eosinophilia; pulmonary
fibromatosis; retroperitoneal
sepsis
malaria
chronic inflammation
gastrointestinal carcinoid tumor
erythroleukemia
corticotroph adenoma
intestinal polyp
peutz-jegher syndrome
multiple disorders
lung cancer
lymphatic metastasis
intestinal adenoma
brain metastases
juvenile polyp
apnea; sleep
somatic mutation
shock
colon adenocarcinoma
parathyroid tumor
pneumoniae
colorectal cancer
delayed-type hypersensitivity
diabetic nephropathies
rectal cancer
hypertension
bleeding disorder
hepatitis
tuberous sclerosis complex
thrombosis
innate immune response
extravasation
depressive disorder
thyroid adenoma, hyperfunctioning
mcardle disease
precocious puberty
colon tumor
barrett esophagus
gastric cancer
melanoma
circulating anticoagulants
polyp; rectal
tumor progression
anterior polar cataract
mesenchymal tumor
bone tumor
severe dysplasia
vitamin depletion
carcinoma endometrial recurrent
high-grade prostatic intraepithelial neoplasia
adenocarcinoma differentiated poorly
obese
reactive hyperplasia
disease; inflammatory bowel
fibrosis pulmonary
leydig cell tumor
cytopathic effect
neurofibromatosis
attenuated adenomatous polyposis coli
meningioma
hereditary site-specific breast cancer
arrhythmogenic right ventricular cardiomyopathy
pancreatic tumor
hyperplastic polyp
breast disease
adrenocortical hyperplasia
factor v leiden mutation
oncogene activation
inflammatory polyp
intestinal cancer
somatotropinoma
cerebral ischemia
lesch-nyhan syndrome
gardner fibroma
residual tumor
adenoma thyroid
single gene defect
odontogenic tumor
pseudomyxoma peritonei
colitis ulcerative
parathyroid adenoma
lung metastases
osseous heteroplasia, progressive
choroid plexus papilloma
primary tumor
nsclc
tumor necrosis
adenoma; pituitary
gastrointestinal adenoma
oncogenesis
polyp
ulcer
adenomatosis
pediatric tumor
meningococcal sepsis
endothelial dysfunction
cns tumor
somatotroph adenoma
carcinoma papillary thyroid
oesophageal
braf, val600glu
endocrine tumor
multiple cancer
benign prostate hyperplasia
glycogen storage disease type 0
cystadenoma
cytoplasmic accumulation
squamous cell carcinoma
endometrioid carcinoma
intestinal tumor
chromosomal instabilities
angelman syndrome
stump
cyst; epithelial
hypertrophies
owren
splice-site mutation
colorectal tumor
adenoma
aniridia
mesothelioma
duodenal cancer
squamous metaplasia
sporadic breast cancer
Becker muscular dystrophy
signet-ring cell carcinoma
rare disorder
malignant transformation
dcis
chromosomal deletion
inherited coagulation disorder
lupus anticoagulant
gastric tumor
atrial flutter
endotoxic shock
hypoxic
ameloblastoma
small intestinal adenoma
death (sudden)
inflammatory breast cancer
adenocarcinoma
germ cell tumor
tumor; wilms
neck cancer
disorder; panic
carcinoma; odontogenic
adenoma villous
dyslipidemia
polyposis
congenital hypertrophies
inflammation
bone lesion
poag
hyperhomocysteinemia
intestinal obstruction
coagulopathies
prostate cancer
mammary tumorigenesis
carcinoma hepatocellular
pancreatic adenocarcinoma
glioblastoma
fibroadenoma
gastric dysplasia
bladder cancer
primary brain tumor
cowden syndrome
PWS
double minutes
dermal cyst
esophagitis reflux
neutrophil migration
mucinous carcinoma
jejunal polyp
cataract
breast tumor
gastric polyp
nuclear accumulation
hmps1
invasive ductal carcinoma
barrett metaplasia
adrenocortical adenoma
precancerous condition
hnpcc
c-myc gene amplification
retroviral infection
anaplastic thyroid carcinoma
nephropathies
adrenal tumor
thrombophilia
preneoplastic change
anemia, severe
iron overload
anal cancer
esophageal cancer
juvenile polyposis
cholera
genetic disorder
basaloid squamous cell carcinoma
hypothyroid
thromboembolism

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APC Gene

protein-coding GIFtS: 76

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