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CTNNB1 Gene

protein-coding GIFtS: 71

GC03P041216

catenin (cadherin-associated protein), beta 1, 88kDa
(Previous names: catenin (cadherin-associated protein), beta 1 (88kD) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: CTNNB)

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

Aliases
Beta-catenin ^³
CTNNB ^², ³
DKFZp686D02253 ^²
FLJ25606 ^²
FLJ37923 ^²
OTTHUMP00000165222 ^²
OTTHUMP00000165223 ^²
beta-catenin ^¹, ²

Descriptions
catenin (cadherin-associated protein), beta 1 (88kD) ^¹, ²
catenin (cadherin-associated protein), beta 1, 88kDa ^²
catenin beta-1 ^²

External Ids
HGNC: 2514¹
Entrez Gene: 1499²
UniProtKB: P35222³
Ensembl: ENSG00000168036⁷

Search outside databases for aliases for CTNNB1 gene

Previous GC identifers: GC03P040551 GC03P041054 GC03P041201

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for CTNNB1:

Beta-catenin is an adherens junction protein. Adherens junctions (AJs; also called the zonula

adherens) are critical for the establishment and maintenance of epithelial layers, such as those

lining organ surfaces. AJs mediate adhesion between cells, communicate a signal that neighboring

cells are present, and anchor the actin cytoskeleton. In serving these roles, AJs regulate normal

cell growth and behavior. At several stages of embryogenesis, wound healing, and tumor cell

metastasis, cells form and leave epithelia. This process, which involves the disruption and

reestablishment of epithelial cell-cell contacts, may be regulated by the disassembly and assembly

of AJs. AJs may also function in the transmission of the 'contact inhibition' signal,

which instructs cells to stop dividing once an epithelial sheet is complete.[supplied by OMIM]

UniProtKB/Swiss-Prot: CTNB1_HUMAN, P35222

Function: Involved in the regulation of cell adhesion and in signal transduction through the Wnt

pathway

Gene Wiki entry for CTNNB1 (Beta-catenin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the CTNNB1 gene

Entrez Gene cytogenetic band: 3p21 Ensembl cytogenetic band: 3p22.1 HGNC cytogenetic band: 3p21

CTNNB1 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 3 GeneLoc Exon Structure

GeneLoc location for GC03P041216: (about GC identifiers)

Start:	41,211,405 bp from pter
End:	41,256,943 bp from pter
Size:	45,539 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000003.10 NT_022517.17

(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 Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: CTNB1_HUMAN, P35222 (See protein sequence)

Recommended Name: Catenin beta-1

Size: 781 amino acids; 85497 Da

Subunit: Two separate pools are found in the cytoplasm: one is PSEN1/cadherin/catenin complex which

anchors to the actin cytoskeleton. The other pool is part of a large complex containing AXIN1,

AXIN2, APC, CSNK1A1 and GSK3B that promotes phosphorylation on N-terminal Ser and Thr residues and

ubiquitination of CTNNB1 via BTRC and its subsequent degradation by the proteasome. Wnt-dependent

activation of DVL antagonizes the action of GSK3B. When GSK3B activity is inhibited the complex

dissociates, CTNNB1 is dephosphorylated and is no longer targeted for destruction. The stabilized

protein translocates to the nucleus, where it binds TCF/LEF-1 family members, TBP, BCL9 and

possibly also RUVBL1 and CHD8. Binds CTNNBIP and EP300. CTNNB1 forms a ternary complex with LEF1

and EP300 that is disrupted by CTNNBIP1 binding (By similarity). Interacts with TAX1BP3 (via the

PDZ domain); this interaction inhibits the transcriptional activity of CTNNB1 (By similarity).

Interacts with AJAP1, BAIAP1, CARM1, CTNNA3, CXADR and PCDH11Y. Binds SLC9A3R1. Interacts with

GLIS2 and MUC1. Interacts with SLC30A9. Interacts with XIRP1 (By similarity). Interacts with PTPRU

(via the cytoplasmic juxtamembrane domain)

Subcellular location: Cytoplasm. Nucleus. Cytoplasm, cytoskeleton. Note=Cytoplasmic when it is

unstabilized (high level of phosphorylation) or bound to CDH1. Translocates to the nucleus when it

is stabilized (low level of phosphorylation). Interaction with GLIS2 and MUC1 promotes nuclear

translocation

PDB structures from and Proteopedia :

1G3J (3D)

1JDH (3D)

1JPW (3D)

1LUJ (3D)

1P22 (3D)

1QZ7 (3D)

1T08 (3D)

1TH1 (3D)

2G57 (3D)

2GL7 (3D)

2Z6H (3D)

3DIW (3D)

3FQN (3D)

3FQR (3D)

Secondary accessions: Q8NEW9 Q8NI94 Q9H391

Alternative splicing: 2 isoforms: P35222-1 P35222-2

Post-translational modifications:

Phosphorylation by GSK3B requires prior phosphorylation of Ser-45 by another kinase.

Phosphorylation proceeds then from Thr-41 to Ser-37 and Ser-33¹

EGF stimulates tyrosine phosphorylation. Phosphorylation on Tyr-654 decreases CDH1 binding and

enhances TBP binding¹

Ubiquitinated by a E3 ubiquitin ligase complex containing UBE2D1, SIAH1, CACYBP/SIP, SKP1A, APC and

TBL1X (Probable). Its ubiquitination leads to its subsequent proteasomal degradation¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (3 alternative transcripts):

NP_001091679.1 NP_001091680.1 NP_001895.1

ENSEMBL proteins:

ENSP00000385604 ENSP00000379488 ENSP00000344456 ENSP00000379493 ENSP00000379486

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Millipore Purified and/or Recombinant CTNNB1 Protein
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (beta Catenin)
	Human Recombinant Proteins from Abnova (CTNNB1)

OriGene Purified Recombinant Human Protein: CTNNB1

5/19 Gene Ontology (GO) cellular component terms (links to tree view) (see all 19 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	IEA	--
GO:0005634	nucleus	TAS	9065401
GO:0005667	transcription factor complex	IEA	--
GO:0005737	cytoplasm	IEA	--
GO:0005813	centrosome	IDA	18086858

About this table

Antibodies for CTNNB1:

	Invitrogen Antibodies for CTNNB1
	Millipore Mono- and Polyclonal Antibodies for the study of CTNNB1
	Sigma-Aldrich Antibody Arrays and Antibodies for CTNNB1
	R&D Systems Antibodies for CTNNB1 (beta-Catenin)
	Cell Signaling Technology (CST) Antibodies for CTNNB1 (b-Catenin)
	Antibodies from Abcam (beta Catenin), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (CTNNB1)
	Novus Biologicals Antibodies for CTNNB1

Assays for CTNNB1:

	Browse Invitrogen for biochemical assays
	Millipore Kits and Assays for the Analysis of CTNNB1
	R&D Systems ELISAs for CTNNB1 (beta-Catenin) (see all)
	Browse biochemical assays available from Enzo Life Sciences

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

Graphical View of Domain Structure for InterPro Entry P35222

ProtoNet protein and cluster: P35222

2 Blocks protein families:

IPB000225 Armadillo repeat

IPB000357 HEAT repeat

UniProtKB/Swiss-Prot: CTNB1_HUMAN, P35222

Similarity: Belongs to the beta-catenin family

Similarity: Contains 12 ARM repeats

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (CTNNB1)
		Millipore RNAi Products for the Analysis of CTNNB1 Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (CTNNB1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001098209

Applied Biosystems Silencer® siRNAs for CTNNB1

Sigma-Aldrich siRNA and siRNA Panels for CTNNB1

Sigma-Aldrich shRNA Panels and shRNA for CTNNB1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for CTNNB1
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001098209
Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001098209
untagged cDNA clones in CMV expression vector (see all 3): NM_001098209

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001904

UniProtKB/Swiss-Prot: CTNB1_HUMAN, P35222

Function: Involved in the regulation of cell adhesion and in signal transduction through the Wnt

pathway

Genatlas biochemistry entry for CTNNB1:

catenin beta 188 kDa,desmosomal plaque component,localized to the nucleus,regulating cell adhesion

(component of the E cadherin multiprotein complex,homologous to plakoglobin (CTNNG1) and

Drosophila Armadillo segment polarity gene),negatively regulated by APC,transducing wingless

signals,interacting with LEF1and TCF4 components,a targetting AP-1 transcription complex,urokinase

and presinilin 1 (PSEN1),involved in hair development with aberrant beta catenin in murine hair

tumors,mutated in melanoma cell lines in anaplastic thyroid carcinoma in Wilms tumors,some

colon,non polyposis colorectal,gastric or endometrioid ovarian carcinomas early onset type,in

desmoid tumors without familial adenomatous polyposis,prostate cancer pilomatricomas and in

hepatoblastomas and in Wilms tumor (see TSG3C),mutated or dysregulated in sporadic agressive

fibromatosis(desmoid tumor) without familial adenomatous polyposis

15/27 MGI mutant phenotypes (inferred from 12 alleles) (MGI details for Ctnnb1) (see all 27 ):

	behavior/neurological	craniofacial	digestive/alimentary	embryogenesis
endocrine/exocrine gland	growth/size	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism
immune system	lethality-prenatal/perinatal	life span-post-weaning/aging	limbs/digits/tail	liver/biliary system

5/14 Gene Ontology (GO) molecular function terms (links to tree view) (see all 14 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003682	chromatin binding	IEA	--
GO:0003690	double-stranded DNA binding	IEA	--
GO:0003700	transcription factor activity	IEA	--
GO:0003713	transcription coactivator activity	IEA	--
GO:0004871	signal transducer activity	NAS	10192393

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
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 Apr 2009 via Entrez Gene.)
About This Section

5/15 Sigma-Aldrich "Your Favorite Gene" Pathways for CTNNB1 (Your Favorite Gene powered by Ingenuity) (see all 15 )

Human Embryonic Stem Cell Pluripotency
Leukocyte Extravasation Signaling
Endometrial Cancer Signaling
Role of NANOG in Mammalian Embryonic Stem Cell Pluripotency
Basal Cell Carcinoma Signaling

GeneDecks CTNNB1 for the pathways selected above

About GeneDecksing

Gene Network Central^TM Interacting Genes and Proteins Network for CTNNB1

5/446 Interacting proteins for CTNNB1 (P35222^{1, 2} ENSP00000344456³) via UniProtKB, MINT, and/or STRING (see all 446 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CDH5	P33151², ENSP00000344115³	MINT-4085223 MINT-4085471 STRING (score=.999)
CTNNA1	P35221², ENSP00000347190³	MINT-7010191 MINT-46006 STRING (score=.999)
TCF4	P15884², ENSP00000346440³	MINT-4508268 MINT-4508065 STRING (score=.999)
TCF7	P36402², ENSP00000335644³	MINT-7023938 MINT-1779680 STRING (score=.997)
NFKB1	P19838², ENSP00000226574³	MINT-7023862 MINT-7023762 STRING (score=.858)

About this table

5/41 Gene Ontology (GO) biological process terms (links to tree view) (see all 41 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	--
GO:0001501	skeletal system development	IEA	--
GO:0001569	patterning of blood vessels	IEA	--
GO:0001702	gastrulation with mouth forming second	IEA	--
GO:0001706	endoderm formation	IEA	--

About this table

(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)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for CTNNB1
10/48 Novoseek chemical compound relationships for CTNNB1 gene (see all 48 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
glycogen	83.86	361	18772141 (4), 10651115 (3), 15525634 (3), 9501208 (3) (see all 99)
sb 415286	71.90	6	18602000 (1), 18687779 (1), 17234760 (1), 18190855 (1)
tyrosine	63.74	401	8707857 (6), 17851558 (5), 9233779 (5), 11710913 (5) (see all 99)
crcs	62.23	9	14601048 (2), 15951972 (2), 18488710 (1), 12827612 (1) (see all 7)
sb-216763	57.18	2	18474214 (1), 18602000 (1)
lithium chloride	56.96	15	18972237 (4), 16920823 (1), 17623674 (1), 18687779 (1) (see all 9)
cp 461	52.83	2	12392815 (2)
threonine	50.12	43	10076565 (2), 16849322 (2), 17996206 (2), 11351304 (1) (see all 33)
lithium	49.96	73	16322400 (5), 18199649 (4), 18582478 (3), 9769178 (2) (see all 38)
matrigel	44.16	3	9522220 (1), 16084063 (1), 15592524 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) 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 Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (CTNNB1)
		Millipore RNAi Products for the Analysis of CTNNB1 Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (CTNNB1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001098209

Sigma-Aldrich siRNA and siRNA Panels for CTNNB1

Sigma-Aldrich shRNA Panels and shRNA for CTNNB1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001098209 NM_001098210 NM_001904

REFSEQ mRNAs for CTNNB1 gene (3 alternative transcripts):

NM_001098209.1 NM_001098210.1 NM_001904.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001098209 NM_001098210 NM_001904

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001098209
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001098209
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_001098209

Additional cDNA sequence:

AB062292.1 AB451264.1 AB451392.1 AK289932.1 AK294778.1 AK296790.1 AK299954.1 AK314776.1

BC058926.1 CR604301.1 X87838.1 Z19054.1

24/38 DOTS entries (see all 38 ):

DT.92403676 DT.120851445 DT.95273403 DT.416816 DT.100790967 DT.100691212 DT.100790969 DT.40122907

DT.97864234 DT.100758632 DT.95114382 DT.120851344 DT.100059123 DT.91766426 DT.100790963 DT.86839981

DT.448272 DT.95273402 DT.120851377 DT.120851393 DT.75163896 DT.95273407 DT.120851381 DT.120851354

24/390 AceView cDNA sequences (see all 390 ):

AU123615 AU125609 BE763992 BX648430 BM550996 AW794781 BE888359 AI540453

BQ213853 AU129662 N25120 CD518346 W80480 BM786046 BX393661 BU192674

CA395839 AA693599 CR604301 BQ437770 BE172725 AU121222 BQ229359 BP334832

highest scoring ESTs for CTNNB1:

X87838 AA146628 AA165205 AA322353 AA367220 AA412501 AA442092 AA442200 AA541336 AA613810

Unigene Cluster for CTNNB1:

Catenin (cadherin-associated protein), beta 1, 88kDa

Hs.476018 [show with all ESTs]

Unigene Representative Sequence: NM_001904

GeneLoc Exon Structure

5/14 Alternative Splicing Database (ASD) splice patterns (SP) for CTNNB1 (see all 14 )

ExUns:	1	^	2a	·	2b	·	2c	·	2d	·	2e	^	3	^	4	^	5	^	6	^	7a	·	7b	^	8a	·	8b	^	9a	·	9b	·	9c	^	10a	·	10b	·	10c	^	11	^	12	^	13	^	14	^	15a	·	15b	·
SP1:													-		-				-		-
SP2:													-		-				-		-
SP3:
SP4:													-		-						-
SP5:			-		-		-		-		-		-		-				-		-

ExUns:	15c	·	15d	^	16a	·	16b	^	17a	·	17b	^	18a	·	18b	·	18c	·	18d	^	19	^	20	^	21a	·	21b
SP1:					-												-		-
SP2:					-												-		-
SP3:					-												-		-						-
SP4:
SP5:

About this scheme

ECgene alternative splicing isoforms for CTNNB1

5 Ensembl transcripts including schematic representations:

ENST00000405570 ENST00000396185 ENST00000349496 ENST00000396190 ENST00000396183

(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 219 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 )
About This Section

CTNNB1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for CTNNB1

¹ / ² / ³

7 probe-sets matching CTNNB1 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
40777_at²^{, 3}	U95-A	1	1.00	1.00	0.44	1.27	X87838	1.00	1.00	1.00	1
54930_at²^{, 3}	U95-C	1	1.00	1.00	0.85	0.74	AI290816	0.60	1.00	0.82	1
201533_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_001904	0.60	1.00	0.82	1
223679_at²^{, 3}	U133-B	4	1.00	0.93	--	--	AF130085	0.40	1.00	0.76	1
1554411_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
201533_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
223679_at²	U133Plus2	4	1.00	0.93	--	--	--	--	--	--	--

GeneDecks CTNNB1 for binary patterns associated with the probe-sets selected above

About GeneDecksing

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TTTTTGATCA

SOURCE GeneReport for Unigene cluster: Hs.476018
Expression variation in blood from EXPOLDB for CTNNB1
UniProtKB/Swiss-Prot: CTNB1_HUMAN, P35222
Tissue specificity: Expressed in several hair follicle cell types: basal and peripheral matrix
cells, and cells of the outer and inner root sheats. Expressed in colon

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for CTNNB1 gene from 5/13 species (see all 13 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	CTNNB1¹	--	catenin (cadherin-associated protein), beta 1, 88kDa	95.6(n) 99.49(a)	477032 XM_856043.1 XP_861136.1
chimpanzee (Pan troglodytes)	CTNNB1¹	--	catenin (cadherin-associated protein), beta 1, 88kDa	99.66(n) 100(a)	450183 XM_001138191.1 XP_001138191.1
cow (Bos taurus)	CTNNB1¹	--	catenin (cadherin-associated protein), beta 1, 88kDa	94.58(n) 99.87(a)	539003 NM_001076141.1 NP_001069609.1
rat (Rattus norvegicus)	Ctnnb1¹	--	catenin (cadherin associated protein), beta 1	89.8(n) 99.74(a)	84353 NM_053357.2 NP_445809.2
mouse (Mus musculus)	Ctnnb1^{1, 5}	9 (72.00 cM)⁵	catenin (cadherin associated protein), beta 1^{1, 5}	90.52(n)¹ 99.87(a)¹	12387¹ NM_007614.2¹ NP_031640.1¹ AK018515⁵ AK020013⁵ (see all 45)

About this table Species with no ortholog for CTNNB1

ENSEMBL Gene Tree for CTNNB1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for CTNNB1 gene

JUP²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/284 NCBI SNPs in CTNNB1 are shown (see all 284 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 130)

AB	SNP ID	Valid	Chr 3 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs2953^1,2	A,C,F,H	41256392(+)	`ATTTAT/GCAAAC`	3	--	ut3¹ ese³		27		NS NA EU MN EA WA	1998
	rs3864004^1,2	A,C,F,H	41215181(+)	`CGCCCG/ATTCTA`	3	--	ng5¹		11		EU EA WA NS	1054
	rs4135384^1,2	C,F,H	41253190(+)	`AGCCAA/GTGGCT`	3	M/V	mis¹ ese³		9		NS EU EA WA	1006
	rs5743390^1,2	F,H	41240555(+)	`ATCCAG/CCGTGG`	3	--	ut5¹		7		NA EU EA WA	512
	rs4135388^1,2	C,H	41256143(+)	`TTTCTC/TTCTTT`	3	--	ut3¹ int¹ trp³		8		NA EU NS EA WA	690
--	rs4135387^1,2	C,F	41256417(+)	`TTAAAT/ATTTTT`	3	--	ut3¹ trp³		4		NA EU NS	254
--	rs3834205^1,2	C,F	41256608(+)	`CTAAT-/TAAT TCATA`	3	--	ut3¹		1		NS	168
--	rs4135243^1,2	C	41256134(+)	`ATAGCAGC/-CTTTC`	3	--	ut3¹ int¹		1		NS	172
--	rs11708064^1,2	A	41256581(+)	`TTTAAA/GAATTG`	3	--	ut3¹		0	--	--	--	--
	rs1722851^1,2	H	41256734(+)	`GCAGGT/GGGATC`	3	--	ut3¹ ese³		8		EA NA MN EU WA	660

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HapMap Linkage Disequilibrium images for CTNNB1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 116806

UniProtKB/Swiss-Prot: CTNB1_HUMAN, P35222

Defects in CTNNB1 are associated with colorectal cancer (CRC) [MIM:114500]

Activating mutations in CTNNB1 have oncogenic activity resulting in tumor development.

Somatic mutations are found in various tumor types, including colon cancers, ovarian and prostate

carcinomas, hepatoblastoma (HB), hepatocellular carcinoma (HCC). HBs are malignant embryonal

tumors mainly affecting young children in the first three years of life

Defects in CTNNB1 are a cause of pilomatrixoma (PTR) [MIM:132600]; a common benign skin

tumor

Defects in CTNNB1 are a cause of medulloblastoma (MDB) [MIM:155255]. MDB is a malignant,

invasive embryonal tumor of the cerebellum with a preferential manifestation in children

Defects in CTNNB1 are associated with ovarian cancer [MIM:167000]. Ovarian cancer is the

leading cause of death from gynecologic malignancy. It is characterized by advanced presentation

with loco-regional dissemination in the peritoneal cavity and the rare incidence of visceral

metastases. These typical features relate to the biology of the disease, which is a principal

determinant of outcome

A chromosomal rearrangement involving CTNNB1 may be a cause of salivary gland pleiomorphic

adenomas (PA) [181030]. Pleiomorphic adenomas are the most common benign epithelial tumors of the

salivary gland. Translocation t(3;8)(p21;q12) with PLAG1

10/95 Novoseek disease relationships for CTNNB1 gene (see all 95 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
familial adenomatous polyposis	93.04	431	8616874 (3), 10698523 (2), 10817505 (2), 11696170 (2) (see all 99)
colon cancer	80.15	281	19190323 (5), 12810642 (5), 15558022 (5), 17030184 (5) (see all 99)
colorectal cancer	79.33	299	11211307 (5), 16540637 (5), 18538736 (5), 16489032 (4) (see all 99)
tumors	78.41	1494	15913427 (7), 17973813 (6), 16860348 (6), 15257551 (6) (see all 99)
colorectal tumors	76.97	48	10359135 (2), 18992165 (2), 10197610 (2), 16091738 (2) (see all 31)
cancer	74.97	555	12439747 (5), 15578921 (4), 18491056 (4), 10817505 (3) (see all 99)
colorectal carcinoma	71.61	108	17927853 (5), 18949395 (3), 15785891 (3), 12912937 (3) (see all 67)
adenoma	70.80	217	12023580 (4), 10817505 (4), 12574842 (4), 10936679 (3) (see all 99)
carcinoma	70.31	272	12023580 (5), 16648762 (5), 18491352 (5), 15606674 (4) (see all 99)
microsatellite instability	70.18	66	17219201 (3), 15668893 (2), 15481028 (2), 17962810 (2) (see all 46)

About this table

Human Gene Mutation Database: CTNNB1
Genetic Association Database: CTNNB1
Human Genome Epidemiology Navigator: CTNNB1 (28 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(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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10/2797 PubMed articles for CTNNB1 gene (see all 2797 ):

Beta-catenin expression in pilomatrixomas. Relationship with beta- catenin gene mutations and comparison with beta-catenin expression in normal hair follicles. (PubMed id 11703283)^{1, 3, 4} Moreno-Bueno G....Palacios J. (2001)
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)
Physical and functional interaction between receptor-like protein tyrosine phosphatase PCP-2 and beta-catenin. (PubMed id 12501215)^{1, 3, 4} Yan H.X....Wang H.Y. (2002)
Beta-catenin accumulation and mutation of the CTNNB1 gene in hepatoblastoma. (PubMed id 10398436)^{1, 3, 4} Blaeker H.... Otto H.F. (1999)
Beta-catenin mutations in hepatocellular carcinoma correlate with a low rate of loss of heterozygosity. (PubMed id 10435629)^{1, 3, 4} Legoix P.... Zucman-Rossi J. (1999)
Siah-1, SIP, and Ebi collaborate in a novel pathway for beta-catenin degradation linked to p53 responses. (PubMed id 11389839)^{1, 3, 4} Matsuzawa S. and Reed J.C. (2001)
Chromatin-specific regulation of LEF-1-beta-catenin transcription activation and inhibition in vitro. (PubMed id 11751639)^{1, 3, 4} Tutter A.V.... Jones K.A. (2001)
Mutational analysis of beta-catenin gene in Japanese ovarian carcinomas: frequent mutations in endometrioid carcinomas. (PubMed id 10391090)^{1, 3, 4} Sagae S....Kudo R. (1999)
Genotype phenotype correlations in Israeli colorectal cancer patients. (PubMed id 15523694)^{1, 3, 6} Starinsky S....Friedman E. (2005)
Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas. (PubMed id 15520370)^{1, 3, 6} Fearnhead N.S....Bodmer W.F. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 1499	HGNC: 2514	AceView: CTNNB1	Ensembl:ENSG00000168036	euGenes: HUgn1499
ECgene: CTNNB1	H-InvDB: CTNNB1

(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)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for CTNNB1	Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs	http://egp.gs.washington.edu/data/ctnnb1/
Wikipedia	http://en.wikipedia.org/wiki/Beta-catenin

Licensable Technologies for CTNNB1
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for CTNNB1:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for CTNNB1-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for CTNNB1		Antibodies for CTNNB1
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for CTNNB1		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (CTNNB1)
	Antibodies (CTNNB1)
	Chimera RNAi (CTNNB1)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Antibodies & Assays for CTNNB1 (b-Catenin)

	Recombinant Proteins (beta Catenin)
	Antibodies (beta Catenin)

	Tagged/untagged cDNA clones
	Validated SYBR primer pairs
	Purified proteins from HEK293T cells
	Western blot validated antibodies
	shRNA in GFP-retroviral vector

Search Tocris compounds for CTNNB1

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for CTNNB1

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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CTNNB1 Gene at Home site.
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CTNNB1 Gene

protein-coding GIFtS: 71

Aliases &
Descriptions
for CTNNB1

Summaries
for CTNNB1

Genomic Location
for CTNNB1

Proteins
for CTNNB1

Protein Domains/
Families
for CTNNB1

Gene Function
for CTNNB1

Pathways & Interactions
for CTNNB1

Drugs & Compounds
for CTNNB1

Transcripts
for CTNNB1

Expression
for CTNNB1

Orthologs
for CTNNB1

Paralogs
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for CTNNB1

Disorders & Mutations
for CTNNB1

Medical News
for CTNNB1

Publications
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Genome Databases showing CTNNB1

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

CTNNB1 Gene

protein-coding GIFtS: 71

Aliases & Descriptionsfor CTNNB1

Summariesfor CTNNB1

Genomic Locationfor CTNNB1

Proteinsfor CTNNB1

Protein Domains/Familiesfor CTNNB1

Gene Functionfor CTNNB1

Pathways & Interactionsfor CTNNB1

Drugs & Compoundsfor CTNNB1

Transcriptsfor CTNNB1

Expression for CTNNB1

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SNPs/Variantsfor CTNNB1

Disorders & Mutationsfor CTNNB1

Medical Newsfor CTNNB1

Publicationsfor CTNNB1

Search for CTNNB1

Genome Databases showing CTNNB1

Other Databases showing CTNNB1

Specialized Databases showing CTNNB1

Licensable Technologiesfor CTNNB1

Servicesfor CTNNB1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for CTNNB1

Summaries
for CTNNB1

Genomic Location
for CTNNB1

Proteins
for CTNNB1

Protein Domains/
Families
for CTNNB1

Gene Function
for CTNNB1

Pathways & Interactions
for CTNNB1

Drugs & Compounds
for CTNNB1

Transcripts
for CTNNB1

Expression
for CTNNB1

Orthologs
for CTNNB1

Paralogs
for CTNNB1

SNPs/Variants
for CTNNB1

Disorders & Mutations
for CTNNB1

Medical News
for CTNNB1

Publications
for CTNNB1

Licensable Technologies
for CTNNB1

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for CTNNB1