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CTNNB1 Gene

protein-coding   GIFtS: 74
GCID: GC03P041236

Catenin (Cadherin-Associated Protein), Beta 1, 88kDa

(Previous names: catenin (cadherin-associated protein), beta 1 (88kD))
(Previous symbol: CTNNB)
  See CTNNB1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Catenin (Cadherin-Associated Protein), Beta 1, 88kDa1 2     armadillo2
CTNNB1 2 3     Catenin Beta-12
MRD192 5     Beta-catenin3
Catenin (Cadherin-Associated Protein), Beta 1 (88kD)1     

External Ids:    HGNC: 25141   Entrez Gene: 14992   Ensembl: ENSG000001680367   OMIM: 1168065   UniProtKB: P352223   

Export aliases for CTNNB1 gene to outside databases

Previous GC identifers: GC03P040551 GC03P041054 GC03P041201 GC03P041216


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CTNNB1 Gene:
The protein encoded by this gene is part of a complex of proteins that constitute adherens junctions (AJs). AJs
are necessary for the creation and maintenance of epithelial cell layers by regulating cell growth and adhesion
between cells. The encoded protein also anchors the actin cytoskeleton and may be responsible for transmitting
the contact inhibition signal that causes cells to stop dividing once the epithelial sheet is complete. Finally,
this protein binds to the product of the APC gene, which is mutated in adenomatous polyposis of the colon.
Mutations in this gene are a cause of colorectal cancer (CRC), pilomatrixoma (PTR), medulloblastoma (MDB), and
ovarian cancer. Three transcript variants encoding the same protein have been found for this gene.(provided by
RefSeq, Oct 2009)

GeneCards Summary for CTNNB1 Gene:
CTNNB1 (catenin (cadherin-associated protein), beta 1, 88kDa) is a protein-coding gene. Diseases associated with CTNNB1 include pilomatrixoma, and craniopharyngioma. GO annotations related to this gene include protein kinase binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is JUP.

UniProtKB/Swiss-Prot: CTNB1_HUMAN, P35222
Function: Key downstream component of the canonical Wnt signaling pathway. In the absence of Wnt, forms a complex
with 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. In the presence of Wnt
ligand, CTNNB1 is not ubiquitinated and accumulates in the nucleus, where it acts as a coactivator for
transcription factors of the TCF/LEF family, leading to activate Wnt responsive genes. Involved in the regulation
of cell adhesion. Acts as a negative regulator of centrosome cohesion. Involved in the CDK2/PTPN6/CTNNB1/CEACAM1
pathway of insulin internalization. Blocks anoikis of malignant kidney and intestinal epithelial cells and
promotes their anchorage-independent growth by down-regulating DAPK2. Disrupts PML function and PML-NB formation
by inhibiting RANBP2-mediated sumoylation of PML

summary for CTNNB1 Gene:
beta-catenin protein is an integral part of the canonical Wnt signalling pathway. Wnt binding to Frizzled
(Fz) receptors and LRP co-receptors activates Dishevelled (Dsh) proteins; these in turn inhibit the
destruction complex responsible for degrading beta-catenin, which includes GSK-3, adenomatous polyposis coli
(APC) and axin. Accumulation of beta-catenin in the cell cytoplasm prompts its translocation to the nucleus,
where it interacts with members of the TCF/LEF family of transcription factors and induces the transcription
of Wnt target genes.

Gene Wiki entry for CTNNB1 (Beta-catenin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CTNNB1 gene promoter:
         p53   ATF-2   p300   CUTL1   GATA-2   Evi-1   E47   GATA-1   HOXA5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCTNNB1 promoter sequence
   Search Chromatin IP Primers for CTNNB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CTNNB1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

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)
CTNNB1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P041236:  view genomic region     (about GC identifiers)

Start:
41,236,328 bp from pter      End:
41,301,587 bp from pter
Size:
65,260 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CTNB1_HUMAN, P35222 (See protein sequence)
Recommended Name: Catenin beta-1  
Size: 781 amino acids; 85497 Da
Subunit: Two separate complex-associated pools are found in the cytoplasm. The majority is present as component of
an E-cadherin/ catenin adhesion complex composed of at least E-cadherin/CDH1 and beta-catenin/CTNNB1, and
possibly alpha-catenin/CTNNA1; the complex is located to adherens junctions. The stable association of CTNNA1 is
controversial as CTNNA1 was shown not to bind to F-actin when assembled in the complex. Alternatively, the
CTNNA1-containing complex may be linked to F-actin by other proteins such as LIMA1. Another cytoplasmic 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, BCL9L 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 directly with AXIN1; the interaction is regulated by CDK2 phosphorylation of AXIN1 (By
similarity). Interacts with SCRIB. Interacts with RAPGEF2 (By similarity). Interacts with PTPRU (via the
cytoplasmic juxtamembrane domain). Interacts with EMD. Interacts with TNIK and TCF7L2. Interacts with SESTD1 and
TRPC4. Interacts with CAV1. Interacts with TRPV4. The TRPV4 and CTNNB1 complex can interact with CDH1. Interacts
with VCL (By similarity). Interacts with PTPRJ. Interacts with PKT7 and CDK2. Interacts with FAT1 (via the
cytoplasmic domain) (By similarity). Interacts with NANOS1 and NDRG2. Interacts with isoform 1 of NEK2. Interacts
with both isoform 1 and isoform 2 of CDK5. Interacts with PTK6. Interacts with SOX7; this interaction may lead to
proteasomal degradation of active CTNNB1 and thus inhibition of Wnt/beta-catenin-stimulated transcription.
Identified in a complex with HINT1 and MITF. Interacts with FHIT. The CTNNB1 and TCF7L2/TCF4 complex interacts
with PML (isoform PML-4). Interacts with FERMT2. Identified in a complex with TCF7L2/TCF4 and FERMT2. May
interact with P-cadherin/CDH3
Sequence caution: Sequence=BAB93475.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Selected PDB 3D structures from and Proteopedia for CTNNB1 (see all 18):
1G3J (3D)        1JDH (3D)        1JPW (3D)        1LUJ (3D)        1P22 (3D)        1QZ7 (3D)    
Secondary accessions: A8K1L7 Q8NEW9 Q8NI94 Q9H391
Alternative splicing: 2 isoforms:  P35222-1   P35222-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CTNNB1: NX_P35222

Explore proteomics data for CTNNB1 at MOPED

Post-translational modifications: 

  • Phosphorylation at Ser-552 by AMPK promotes stabilizion of the protein, enhancing TCF/LEF-mediated transcription
    (By similarity). Phosphorylation by GSK3B requires prior phosphorylation of Ser-45 by another kinase.
    Phosphorylation proceeds then from Thr-41 to Ser-37 and Ser-33. Phosphorylated by NEK2. EGF stimulates tyrosine
    phosphorylation. Phosphorylation on Tyr-654 decreases CDH1 binding and enhances TBP binding. Phosphorylated on
    Ser-33 and Ser-37 by HIPK2. This phosphorylation triggers proteasomal degradation. Phosphorylation on Ser-191 and
    Ser-246 by CDK5. Phosphorylation by CDK2 regulates insulin internalization. Phosphorylation by PTK6 at Tyr-64,
    Tyr-142, Tyr-331 and/or Tyr-333 with the predominant site at Tyr-64 is not essential for inhibition of
    transcriptional activity1
  • Ubiquitinated by the SCF(BTRC) E3 ligase complex when phosphorylated by GSK3B, leading to its degradation.
    Ubiquitinated by a E3 ubiquitin ligase complex containing UBE2D1, SIAH1, CACYBP/SIP, SKP1, APC and TBL1X, leading
    to its subsequent proteasomal degradation (By similarity)1
  • S-nitrosylation at Cys-619 within adherens junctions promotes VEGF-induced, NO-dependent endothelial cell
    permeability by disrupting interaction with E-cadherin, thus mediating disassembly adherens junctions (By
    similarity)1
  • Ubiquitination2 at Lys19, Lys133, Lys158, Lys170, Lys233, Lys335, Lys345, Lys354, Lys435, Lys508
  • Modification sites at PhosphoSitePlus

  • See CTNNB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001091679.1  NP_001091680.1  NP_001895.1  

    ENSEMBL proteins: 
     ENSP00000400508   ENSP00000385604   ENSP00000387455   ENSP00000412219   ENSP00000379486  
     ENSP00000344456   ENSP00000411226   ENSP00000379488   ENSP00000409302   ENSP00000401599  
    Reactome Protein details: P35222

    CTNNB1 Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant CTNNB1 Protein
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for CTNNB1
    OriGene Protein Over-expression Lysate for CTNNB1
    OriGene MassSpec for CTNNB1
    OriGene Custom Protein Services for CTNNB1
    GenScript Custom Purified and Recombinant Proteins Services for CTNNB1
    Novus Biologicals CTNNB1 Proteins
    Novus Biologicals CTNNB1 Lysate
    Sino Biological Recombinant Protein for CTNNB1
    Sino Biological Cell Lysate for CTNNB1
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for CTNNB1 

    CTNNB1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CTNNB1
    R&D Systems Antibodies for CTNNB1 (beta-Catenin)
    Cell Signaling Technology (CST) Antibodies for CTNNB1 
    OriGene Antibodies for CTNNB1
    OriGene Custom Antibody Services for CTNNB1
    Novus Biologicals CTNNB1 Antibodies
    Abcam antibodies for CTNNB1
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for CTNNB1
    LSBio Antibodies in human, mouse, rat for CTNNB1

    CTNNB1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CTNNB1
    R&D Systems ELISAs for CTNNB1 (beta-Catenin)         (see all)
    GenScript Custom Assay Services for CTNNB1
    Cell Signaling Technology (CST) Sandwich ELISA Kits for CTNNB1
    Enzo Life Sciences assays for CTNNB1
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    eBioscience ELISAs for CTNNB1: (see all 2
                        beta-Catenin (Total/Phospho) InstantOne ELISA 96 tests


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ARMC: Armadillo repeat containing

    4 InterPro protein domains:
     IPR011989 ARM-like
     IPR000225 Armadillo
     IPR013284 Beta-catenin
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry P35222

    ProtoNet protein and cluster: P35222

    2 Blocks protein domains:
    IPB000225 Armadillo repeat
    IPB000357 HEAT repeat


    UniProtKB/Swiss-Prot: CTNB1_HUMAN, P35222
    Similarity: Belongs to the beta-catenin family
    Similarity: Contains 12 ARM repeats


    Find genes that share domains with CTNNB1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CTNB1_HUMAN, P35222
    Function: Key downstream component of the canonical Wnt signaling pathway. In the absence of Wnt, forms a complex
    with 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. In the presence of Wnt
    ligand, CTNNB1 is not ubiquitinated and accumulates in the nucleus, where it acts as a coactivator for
    transcription factors of the TCF/LEF family, leading to activate Wnt responsive genes. Involved in the regulation
    of cell adhesion. Acts as a negative regulator of centrosome cohesion. Involved in the CDK2/PTPN6/CTNNB1/CEACAM1
    pathway of insulin internalization. Blocks anoikis of malignant kidney and intestinal epithelial cells and
    promotes their anchorage-independent growth by down-regulating DAPK2. Disrupts PML function and PML-NB formation
    by inhibiting RANBP2-mediated sumoylation of PML

         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

         Gene Ontology (GO): Selected molecular function terms (see all 29):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001102RNA polymerase II activating transcription factor binding IPI19443654
    GO:0003677DNA binding ----
    GO:0003682chromatin binding IEA--
    GO:0003690double-stranded DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
         
    Find genes that share ontologies with CTNNB1           About GenesLikeMe


    Phenotypes:
         6 GenomeRNAi human phenotypes for CTNNB1:
     Decreased Wnt reporter activit  Decreased influenza A/WSN/33 r  Increased cell death in DLD-1   Increased focal adhesion (FA)  
     Stronger migration  Wnt reporter downregulated 

         Selected MGI mutant phenotypes (inferred from 21 alleles(MGI details for Ctnnb1) (see all 29):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  immune system  integument  limbs/digits/tail  liver/biliary system 

    Find genes that share phenotypes with CTNNB1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for CTNNB1: Ctnnb1tm4.1Wbm Ctnnb1tm2.1Kem Ctnnb1tm1Wbm Ctnnb1tm1.1Yy

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CTNNB1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CTNNB1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CTNNB1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CTNNB1

    miRNA
    Products:
        
    miRTarBase miRNAs that target CTNNB1:
    hsa-mir-744-5p (MIRT037700), hsa-mir-200a-3p (MIRT001175), hsa-mir-1226-3p (MIRT036496), hsa-mir-30a-5p (MIRT028521), hsa-mir-34a-5p (MIRT025403), hsa-mir-155-5p (MIRT001557), hsa-mir-532-3p (MIRT037926), hsa-mir-214-3p (MIRT007031), hsa-mir-331-3p (MIRT043472), hsa-mir-124-3p (MIRT022723), hsa-mir-1826 (MIRT006602), hsa-mir-221-3p (MIRT024185)

    Block miRNA regulation of human, mouse, rat CTNNB1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CTNNB1 (see all 40):
    hsa-miR-582-3p hsa-miR-300 hsa-miR-624* hsa-miR-624 hsa-miR-578 hsa-miR-138-2* hsa-miR-183* hsa-miR-3122
    SwitchGear 3'UTR luciferase reporter plasmidCTNNB1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CTNNB1
    Predesigned siRNA for gene silencing in human, mouse, rat CTNNB1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CTNNB1

    Clone
    Products:
         
    OriGene clones in human, mouse for CTNNB1 (see all 18)
    OriGene ORF clones in mouse, rat for CTNNB1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): CTNNB1 (NM_001904)
    Sino Biological Human cDNA Clone for CTNNB1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CTNNB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CTNNB1
    Addgene plasmids for CTNNB1 

    Cell Line
    Products:
         
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTNNB1

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-11601 VA4-11591) for CTNNB1 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CTNB1_HUMAN, P35222: Cytoplasm. Nucleus. Cytoplasm, cytoskeleton. Cell junction, adherens junction. Cell
    junction. Cell membrane. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm,
    cytoskeleton, spindle pole. Note=Colocalized with RAPGEF2 and TJP1 at cell-cell contacts (By similarity).
    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. Interaction with EMD inhibits nuclear localization. The majority of beta-catenin is localized to
    the cell membrane. In interphase, colocalizes with CROCC between CEP250 puncta at the proximal end of centrioles,
    and this localization is dependent on CROCC and CEP250. In mitosis, when NEK2 activity increases, it localizes to
    centrosomes at spindle poles independent of CROCC. Colocalizes with CDK5 in the cell-cell contacts and plasma
    membrane of undifferentiated and differentiated neuroblastoma cells
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol5
    nucleus5
    plasma membrane5
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 39):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000922spindle pole IEA--
    GO:0005634nucleus IDA10980594
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex IDA11751639
    GO:0005737cytoplasm IDA11793365

    Find genes that share ontologies with CTNNB1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CTNNB1 About   (see all 97)  
    See pathways by source

    SuperPathContained pathways About
    1Wnt signaling pathway (KEGG)
    Wnt signaling pathway0.40
    Wnt Signaling Pathway NetPath0.37
    Wnt Signaling Pathways0.40
    2Apoptotic cleavage of cellular proteins
    Apoptotic cleavage of cellular proteins0.74
    E-cadherin signaling events0.00
    Apoptotic execution phase0.74
    Apoptotic cleavage of cell adhesion proteins0.00
    3EphB-EphrinB Signaling
    EphB-EphrinB Signaling0.58
    Cytoskeleton remodeling Reverse signaling by ephrin B0.34
    Ephrin-Eph Signaling0.58
    4Endometrial cancer
    Endometrial cancer0.45
    Colorectal cancer0.42
    Signal transduction PTEN pathway0.45
    5Hypertrophic cardiomyopathy (HCM)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)0.54
    Arrhythmogenic right ventricular cardiomyopathy0.54


    Find genes that share SuperPaths with CTNNB1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 R&D Systems Pathways for CTNNB1
        Wnt Signaling Pathways
    Notch Signaling Pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CTNNB1 (see all 25)
        PKA Signaling
    Sertoli-Sertoli Cell Junction Dynamics
    Remodeling of Adherens Junctions
    Molecular Mechanisms of Cancer
    Ephrin-Eph Signaling

    2 Cell Signaling Technology (CST) Pathways for CTNNB1
        Wnt / Hedgehog / Notch
    Adhesion

    2 Tocris Bioscience Pathways for CTNNB1
        Akt Pathway
    Wnt Pathway

    Selected GeneGo (Thomson Reuters) Pathways for CTNNB1 (see all 14)
        Transcription Androgen Receptor nuclear signaling
    Development VEGF signaling via VEGFR2 - generic cascades
    Transcription P53 signaling pathway
    Development Endothelin-1/EDNRA signaling
    Signal transduction PTEN pathway

    Selected BioSystems Pathways for CTNNB1 (see all 39)
        MicroRNAs in cardiomyocyte hypertrophy
    Heart Development
    TGF Beta Signaling Pathway
    Wnt Signaling Pathway
    Adipogenesis

    2 Sino Biological Pathways for CTNNB1
        EGFR Signaling Pathway
    Canonical Wnt Pathway

    Selected Reactome Pathways for CTNNB1 (see all 8)
        deactivation of the beta-catenin transactivating complex
    LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production
    TCF dependent signaling in response to WNT
    formation of the beta-catenin:TCF transactivating complex
    disassembly of the destruction complex and recruitment of AXIN to the membrane

    1 PharmGKB Pathway for CTNNB1
        Celecoxib Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for CTNNB1) (see all 20):
        Rap1 signaling pathway
    Wnt signaling pathway
    Hippo signaling pathway
    Focal adhesion
    Adherens junction

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CTNNB1 (see all 22): 
              Lung Cancer in human mouse rat
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              Adherens Junctions in human mouse rat
              Tight Junctions in human mouse rat
              Wound Healing in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CTNNB1

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

    Selected Interacting proteins for CTNNB1 (P352221, 2, 3 ENSP000003444564) via UniProtKB, MINT, STRING, and/or I2D (see all 726)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AXIN1O151691, 2, 3, ENSP000002623204EBI-491549,EBI-710484 MINT-8284998 MINT-4508192 MINT-4508119 MINT-6823820 MINT-8277609 MINT-4508242 MINT-8403910 MINT-8403880 I2D: score=9 STRING: ENSP00000262320
    FERMT2Q96AC11, 2EBI-491549,EBI-4399465 MINT-8398724 MINT-8399030 MINT-8398831 MINT-8398987 MINT-8398882 MINT-8398896 MINT-8398917 MINT-8398737 MINT-8399014 MINT-8398779 MINT-8399000 MINT-8398937 MINT-8398816 MINT-8398862 MINT-8398799 MINT-8398846 MINT-8398755
    TCF4P158841, 2, 3, ENSP000003464404EBI-491549,EBI-533224 MINT-8399030 MINT-8398882 MINT-8398896 MINT-8398917 MINT-4508268 MINT-8398937 MINT-8398969 MINT-8398862 MINT-4508065 I2D: score=7 STRING: ENSP00000346440
    TCF7L2Q9NQB01, 2, 3, ENSP000003584044EBI-491549,EBI-924724 MINT-1779698 MINT-7952386 MINT-2730974 MINT-7952375 I2D: score=8 STRING: ENSP00000358404
    GSK3BP498411, 2, 3, ENSP000003248064EBI-491549,EBI-373586 MINT-4508051 MINT-8403910 MINT-8398846 I2D: score=9 STRING: ENSP00000324806
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 167):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IBA--
    GO:0000578embryonic axis specification IBA--
    GO:0000904cell morphogenesis involved in differentiation ----
    GO:0001501skeletal system development ----
    GO:0001569patterning of blood vessels IC--

    Find genes that share ontologies with CTNNB1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for CTNNB1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    ICG 001Inhibits TCF/beta-catenin-mediated transcription[847591-62-2]
    FH 535Inhibitor of Wnt/beta-catenin signaling[108409-83-2]
    CCT 031374 hydrobromideInhibits TCF-dependent transcription; lowers beta-catenin levels[1219184-91-4]
    IWP 2Inhibitor of Wnt processing and secretion; blocks beta-catenin accumulation[686770-61-6]
    iCRT 14Inhibits beta-catenin-responsive transcription (CRT)[677331-12-3]

    1 HMDB Compound for CTNNB1    About this table
    CompoundSynonyms CAS #PubMed Ids
    LithiumLi (see all 5)7439-93-2--

    1 DrugBank Compound for CTNNB1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Urea-- 57-13-6target--17139284 17016423 10592235

    Selected Novoseek inferred chemical compound relationships for CTNNB1 gene (see all 145)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycogen 83.9 399 18772141 (4), 10651115 (3), 15525634 (3), 9501208 (3) (see all 99)
    sb 415286 69 6 18602000 (1), 18687779 (1), 17234760 (1), 18190855 (1)
    sb-216763 63.4 3 18474214 (1), 18602000 (1), 19795391 (1)
    tyrosine 63.3 427 8707857 (6), 17851558 (5), 9233779 (5), 11710913 (5) (see all 99)
    crcs 62 11 14601048 (2), 15951972 (2), 18488710 (1), 19912361 (1) (see all 9)
    lithium chloride 61.5 22 18972237 (4), 18957842 (1), 16920823 (1), 17623674 (1) (see all 13)
    exisulind 60.4 25 12392815 (5), 20332437 (3), 11602670 (3), 10910034 (2) (see all 9)
    cp 461 51.1 2 12392815 (2)
    samp 50.6 1 20197613 (1)
    threonine 49.3 48 10076565 (2), 16849322 (2), 17996206 (2), 11351304 (1) (see all 36)



    Find genes that share compounds with CTNNB1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

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    REFSEQ mRNAs for CTNNB1 gene (3 alternative transcripts): 
    NM_001098209.1  NM_001098210.1  NM_001904.3  

    Unigene Cluster for CTNNB1:

    Catenin (cadherin-associated protein), beta 1, 88kDa
    Hs.476018  [show with all ESTs]
    Unigene Representative Sequence: NM_001904
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000426215 ENST00000405570(uc010hia.1) ENST00000433400 ENST00000431914
    ENST00000396183 ENST00000349496(uc003ckq.2 uc003ckp.2 uc003ckr.2 uc011azf.1 uc011azg.1)
    ENST00000453024 ENST00000396185 ENST00000450969 ENST00000441708 ENST00000488914
    ENST00000465552 ENST00000482042(uc003ckt.1) ENST00000485265 ENST00000471014

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CTNNB1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CTNNB1 (see all 40):
    hsa-miR-582-3p hsa-miR-300 hsa-miR-624* hsa-miR-624 hsa-miR-578 hsa-miR-138-2* hsa-miR-183* hsa-miR-3122
    SwitchGear 3'UTR luciferase reporter plasmidCTNNB1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CTNNB1
    Predesigned siRNA for gene silencing in human, mouse, rat CTNNB1
    Clone
    Products:
         
    OriGene clones in human, mouse for CTNNB1 (see all 18)
    OriGene ORF clones in mouse, rat for CTNNB1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): CTNNB1 (NM_001904)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CTNNB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CTNNB1
    Addgene plasmids for CTNNB1 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CTNNB1
    OriGene qSTAR qPCR primer pairs in human, mouse for CTNNB1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CTNNB1
      QuantiTect SYBR Green Assays in human, mouse, rat CTNNB1
      QuantiFast Probe-based Assays in human, mouse, rat CTNNB1
    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-11601 VA4-11591) for CTNNB1 

    Additional mRNA sequence: 

    AB062292.1 AB451264.1 AB451392.1 AK289932.1 AK294778.1 AK296790.1 AK299954.1 AK314776.1 
    BC058926.1 X87838.1 Z19054.1 

    Selected DOTS entries (see all 37):

    DT.92403676  DT.120851445  DT.95273403  DT.416816  DT.100790967  DT.100691212  DT.100790969  DT.40122907 
    DT.95114382  DT.100758632  DT.120851344  DT.97864234  DT.91766426  DT.100790963  DT.86839981  DT.100059123 
    DT.448272  DT.95273402  DT.120851377  DT.120851393  DT.75163896  DT.95273407  DT.120851381  DT.120851354 

    Selected AceView cDNA sequences (see all 390):

    BP345069 CR604301 BU192674 AU121222 BE888359 BM456312 CB151901 AI719357 
    AV657660 CD243165 AI365681 BP334832 T07144 BM550996 AA442092 BE172725 
    AA652362 AU123615 CA310290 CA395839 BP368185 BX393661 AA693599 AV657648 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CTNNB1 (see all 14)    About this scheme

    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:                                                                                    


    ECgene alternative splicing isoforms for CTNNB1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    CTNNB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTTGATCA
    CTNNB1 Expression
    About this image


    CTNNB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 41) fully expand
     
     Dermis (Integumentary System)    fully expand to see all 16 entries
             Dermal Mesenchyme Cells Dorsal Subectodermal Mesenchyme
     
     Somite (Muscoskeletal System)    fully expand to see all 8 entries
             Dermal Progenitor Cells Sacral Dorsomedial Dermomyotome Lip
     
     Fibroblasts
             Dermal Fibroblasts Dorsal Dermis
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Thalamus
             Endothelial cells
     
     Tooth (Integumentary System)    fully expand to see all 8 entries
             Odontoblasts Dentin
    CTNNB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CTNNB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.476018

    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 sheaths. Expressed in colon. Present in cortical neurons (at protein level)

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CTNNB1 (see all 22): 
              Lung Cancer in human mouse rat
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              Adherens Junctions in human mouse rat
              Tight Junctions in human mouse rat
              Wound Healing in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for CTNNB1
    OriGene qSTAR qPCR primer pairs in human, mouse for CTNNB1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CTNNB1
    QuantiTect SYBR Green Assays in human, mouse, rat CTNNB1
    QuantiFast Probe-based Assays in human, mouse, rat CTNNB1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTNNB1

    (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

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    This gene was present in the common ancestor of animals.

    Orthologs for CTNNB1 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ctnnb11 , 5 catenin (cadherin associated protein), beta 11, 5 90.52(n)1
    99.87(a)1
      9 (72.19 cM)5
    123871  NM_001165902.11  NP_001159374.11 
     1209292165 
    chicken
    (Gallus gallus)
    Aves CTNNB11 catenin (cadherin-associated protein), beta 1, 88kDa less 84.59(n)
    99.36(a)
      395964  NM_205081.1  NP_990412.1 
    lizard
    (Anolis carolinensis)
    Reptilia CTNNB16
    catenin (cadherin-associated protein), beta 1, 88k...
    100(a)
    1 ↔ 1
    GL343224.1(861339-897754)
    African clawed frog
    (Xenopus laevis)
    Amphibia ctnnb1-prov2 catenin 85.61(n)    BC045258.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC047815.12   -- 78.72(n)   30265  BC047815.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta arm1 , 3 frizzled receptor signaling pathway
    cytoskeletal anchor protein less3
    armadillo1
    67(a)3
    64.35(n)1
    73.66(a)1
      1 2B143
    311511  NM_206605.21  NP_996328.11 
    worm
    (Caenorhabditis elegans)
    Secernentea hmp-21 , 3 Armadillo/beta-catenin-like repeats (4
    domains) less3
    hmp-21
    34(a)
    (best of 2)3
    47.62(n)1
    38.88(a)1
      I(14747632-14750563)3
    1733381  NM_001265497.11  NP_001252426.11 


    ENSEMBL Gene Tree for CTNNB1 (if available)
    TreeFam Gene Tree for CTNNB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CTNNB1 gene
    JUP2  
    1 SIMAP similar gene for CTNNB1 using alignment to 9 protein entries:     CTNB1_HUMAN (see all proteins):
    JUP

    Find genes that share paralogs with CTNNB1           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for CTNNB1
    PGOHUM00000235270 PGOHUM00000235646


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for CTNNB1 (see all 916)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289315881,2,,4
    CPilomatrixoma (PTR)4 other141198440(+) ACCTGA/C/G/
            
    ACTCT
    12 N H D Y mis1 ese30--------
    VAR_0176324
    Hepatocellular carcinoma4--see VAR_0176322 S P mis40--------
    VAR_0176274
    Hepatocellular carcinoma4--see VAR_0176272 S Y mis40--------
    VAR_0176124
    Hepatocellular carcinoma4--see VAR_0176122 S R mis40--------
    VAR_0176154
    Pilomatrixoma (PTR)4--see VAR_0176152 D G mis40--------
    VAR_0176294
    Hepatocellular carcinoma4--see VAR_0176292 T A mis40--------
    VAR_0176314
    Hepatocellular carcinoma4--see VAR_0176312 S F mis40--------
    VAR_0176304
    Pilomatrixoma (PTR)4--see VAR_0176302 T I mis40--------
    VAR_0176204
    Pilomatrixoma (PTR)4--see VAR_0176202 G E mis40--------
    VAR_0176264
    Pilomatrixoma (PTR)4--see VAR_0176262 S F mis40--------

    HapMap Linkage Disequilibrium report for CTNNB1 (41236328 - 41301587 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CTNNB1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv274874CNV Loss21479260
    esv275401CNV Gain+Loss21479260
    esv275482CNV Gain+Loss21479260

    Human Gene Mutation Database (HGMD): CTNNB1
    Selected Site Specific Mutation Identification with PCR Assays for CTNNB1 (see all 55):
    Cosmic IdAA Change
    5682p.S33P
    5686p.G34R
    5709p.K49R
    5713p.G38D
    6128p.S45del
    Selected Site Specific Cancer Mutation PCR Panels containing CTNNB1 (see all 22):
    Breast Cancer
    Cancer Comprehensive Panel 384HT
    Lung Cancer
    Oncogene Panel 384HT
    Soft Tissue Tumors
    2 Copy Number PCR Panels containing CTNNB1:
    Oncogenes & Tumor Suppressor Genes 384HC
    Gastric Cancer
    SeqTarget long-range PCR primers for resequencing CTNNB1
    DNA2.0 Custom Variant and Variant Library Synthesis for CTNNB1

    (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

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    OMIM gene information: 116806   
    OMIM disorders: 615075  114500  132600  167000  114550  
    UniProtKB/Swiss-Prot: CTNB1_HUMAN, P35222
  • Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from
    the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with
    progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon
    and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Note=The gene
    represented in this entry may be involved in disease pathogenesis
  • Note=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
  • Pilomatrixoma (PTR) [MIM:132600]: Common benign skin tumor. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Medulloblastoma (MDB) [MIM:155255]: Malignant, invasive embryonal tumor of the cerebellum with a
    preferential manifestation in children. Note=The gene represented in this entry may be involved in disease
    pathogenesis
  • Ovarian cancer (OC) [MIM:167000]: The term ovarian cancer defines malignancies originating from ovarian
    tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the
    most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of
    late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease. Note=Disease
    susceptibility is associated with variations affecting the gene represented in this entry
  • Note=A chromosomal aberration involving CTNNB1 is found in salivary gland pleiomorphic adenomas, the most
    common benign epithelial tumors of the salivary gland. Translocation t(3;8)(p21;q12) with PLAG1
  • Mesothelioma, malignant (MESOM) [MIM:156240]: An aggressive neoplasm of the serosal lining of the chest.
    It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other
    regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. Note=The
    gene represented in this entry may be involved in disease pathogenesis
  • Mental retardation, autosomal dominant 19 (MRD19) [MIM:615075]: A disorder characterized by significantly
    below average general intellectual functioning associated with impairments in adaptive behavior and manifested
    during the developmental period. MRD19 features include severe intellectual disability with absent or very
    limited speech, microcephaly, and spasticity which severely impaired the ability to walk. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • Selected diseases for CTNNB1 (see all 58):    
    About MalaCards
    pilomatrixoma    craniopharyngioma    well-differentiated fetal adenocarcinoma of the lung    classic pulmonary blastoma
    ovarian cancer, somatic    pilomatricoma, somatic    severe intellectual disability-progressive spastic diplegia syndrome    mental retardation, autosomal dominant 19
    colon cancer    desmoid tumor    pulmonary blastoma    colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas
    breast medullary carcinoma    goblet cell carcinoid    hepatoblastoma    hepatocellular carcinoma, somatic
    medulloblastoma    adenocarcinoma, ovarian, somatic    colorectal cancer, somatic    blastoma

    7 diseases from the University of Copenhagen DISEASES database for CTNNB1:
    Carcinoma     Colorectal cancer     Adenoma     Familial adenomatous polyposis
    Pilomatrixoma     Nephroblastoma     Medulloblastoma

    Find genes that share disorders with CTNNB1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for CTNNB1 gene (see all 95)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    familial adenomatous polyposis 93 454 8616874 (3), 10698523 (2), 10817505 (2), 11696170 (2) (see all 99)
    colon cancer 81.3 333 20514474 (6), 19190323 (5), 12810642 (5), 17030184 (5) (see all 99)
    colorectal cancer 79.9 333 11211307 (5), 16540637 (5), 18538736 (5), 16489032 (4) (see all 99)
    tumors 79.4 1681 15913427 (7), 17973813 (6), 16860348 (6), 15257551 (6) (see all 99)
    colorectal tumors 76.9 52 10359135 (2), 18992165 (2), 10197610 (2), 16091738 (2) (see all 33)
    cancer 76.7 651 12439747 (5), 15578921 (4), 19289465 (4), 19956499 (4) (see all 99)
    colorectal carcinoma 72.8 115 17927853 (5), 18949395 (3), 15785891 (3), 12912937 (3) (see all 72)
    microsatellite instability 72.8 73 17219201 (3), 15668893 (2), 15481028 (2), 17962810 (2) (see all 53)
    adenoma 72.6 246 12023580 (4), 10817505 (4), 12574842 (4), 10936679 (3) (see all 99)
    ovarian endometrioid adenocarcinoma 71.2 17 11719457 (2), 17418409 (2), 10417756 (2), 16452189 (1) (see all 10)

    Genetic Association Database (GAD): CTNNB1
    Human Genome Epidemiology (HuGE) Navigator: CTNNB1 (66 documents)

    Export disorders for CTNNB1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CTNNB1 gene, integrated from 10 sources (see all 3931):
    (articles sorted by number of sources associating them with CTNNB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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, 2, 9 Moreno-Bueno G....Palacios J. (Br. J. Dermatol. 2001)
    2. Specific mutations in the beta-catenin gene (CTNNB1) correlate with local recurrence in sporadic desmoid tumors. (PubMed id 18832571)1, 4, 9 Lazar A.J....Lev D. (Am. J. Pathol. 2008)
    3. APC and CTNNB1 mutations are rare in sporadic ependymomas. (PubMed id 16843107)1, 4, 9 Onilude O.E....Clifford S.C. (Cancer Genet. Cytogenet. 2006)
    4. High frequency of beta-catenin heterozygous mutations in extra-abdominal fibromatosis: a potential molecular tool for disease management. (PubMed id 20197769)1, 4, 9 DA'mont J....BAcnard J. (Br. J. Cancer 2010)
    5. Prevalence of mutations in APC, CTNNB1, and BRAF in Tunisian patients with sporadic colorectal cancer. (PubMed id 18992635)1, 4, 9 Bougatef K....Marrakchi R. (Cancer Genet. Cytogenet. 2008)
    6. 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 LA1chtenborg M....de Goeij A.F. (BMC Cancer 2005)
    7. Physical and functional interaction between receptor-like protein tyrosine phosphatase PCP-2 and beta-catenin. (PubMed id 12501215)1, 2, 9 Yan H.-X.... Wang H.-Y. (Biochemistry 2002)
    8. Hot spots in beta-catenin for interactions with LEF-1, conductin and APC. (PubMed id 10966653)1, 2, 9 von Kries J.P.... Birchmeier W. (Nat. Struct. Biol. 2000)
    9. Analysis of association of LRP5, LRP6, SOST, DKK1, and CTNNB1 genes with bone mineral density in a Slovenian population. (PubMed id 19898734)1, 4, 9 Mencej-Bedrac S....Marc J. (Calcif. Tissue Int. 2009)
    10. Clinicopathological and molecular analysis of endometrial carcinoma associated with tamoxifen. (PubMed id 18500270)1, 4, 9 Turbiner J....Palacios J. (Mod. Pathol. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
    Disorders
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      Query String
    PubMed
    OMIM
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      (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: 1499 HGNC: 2514 AceView: CTNNB1 Ensembl:ENSG00000168036 euGenes: HUgn1499
    ECgene: CTNNB1 Kegg: 1499 H-InvDB: CTNNB1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CTNNB1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CTNNB1 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/ctnnb1/
    Wikipedia http://en.wikipedia.org/wiki/Beta-catenin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CTNNB1 gene:
    Search GeneIP for patents involving CTNNB1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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