Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CTNNB1 Gene

Aliases for CTNNB1 Gene

  • Catenin Beta 1 2 3 5
  • Catenin (Cadherin-Associated Protein), Beta 1, 88kDa 2 3
  • CTNNB 3 4
  • Catenin (Cadherin-Associated Protein), Beta 1 (88kD) 2
  • Catenin (Cadherin-Associated Protein), Beta 1 2
  • Catenin Beta-1 3
  • Beta-Catenin 4
  • Armadillo 3
  • MRD19 3

External Ids for CTNNB1 Gene

Previous HGNC Symbols for CTNNB1 Gene

  • CTNNB

Previous GeneCards Identifiers for CTNNB1 Gene

  • GC03P040551
  • GC03P041054
  • GC03P041201
  • GC03P041216

Summaries for CTNNB1 Gene

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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]

GeneCards Summary for CTNNB1 Gene

CTNNB1 (Catenin Beta 1) is a Protein Coding gene. Diseases associated with CTNNB1 include Colorectal Adenomatous Polyposis, Autosomal Recessive, With Pilomatricomas and Mental Retardation, Autosomal Dominant 19. Among its related pathways are HTLV-I infection and Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and binding. An important paralog of this gene is JUP.

UniProtKB/Swiss-Prot for CTNNB1 Gene

  • 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 (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22647378, PubMed:22699938, PubMed:22155184). Promotes neurogenesis by maintaining sympathetic neuroblasts within the cell cycle (By similarity).

Tocris Summary for CTNNB1 Gene

  • beta-catenin protein is an integral part of the canonical Wnt signaling 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.

Gene Wiki entry for CTNNB1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CTNNB1 Gene

Genomics for CTNNB1 Gene

Regulatory Elements for CTNNB1 Gene

Enhancers for CTNNB1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F041158 1.3 Ensembl ENCODE 10.8 -35.2 -35241 2.4 HDGF PKNOX1 ZFP64 ZNF493 FEZF1 ZNF2 KLF7 FOS ZNF202 REST ZNF619 ZNF620 ENSG00000234287 CTNNB1 ENSG00000233919 LOC105377045
GH03F041116 1.3 Ensembl ENCODE 10.7 -77.0 -76951 2.6 PKNOX1 CREB3L1 ZFP64 ARID4B FEZF1 DMAP1 ZNF2 SLC30A9 CBX5 FOS ZNF619 ZNF620 ENSG00000234287 CTNNB1 ENSG00000233919 LOC105377045
GH03F041212 0.7 Ensembl 18.2 +22.9 22864 11.0 HLF CEBPB ZNF644 ZBTB40 YY1 TEAD3 ZNF316 HNF1A CEBPA FOS CTNNB1 TRAK1 PIR45194
GH03F041101 1.1 Ensembl ENCODE 10 -92.7 -92694 1.8 ELF3 ATF1 ARID4B RAD21 RARA CREM THAP11 CEBPB ZEB2 MIER2 CTNNB1 LOC105377045 ENSG00000233919
GH03F040584 1 Ensembl ENCODE 10.2 -609.9 -609860 1.7 CTCF RAD21 TEAD3 POLR2A ZNF143 SMC3 CREM ZNF263 ZNF654 NFIA ENTPD3-AS1 CTNNB1 GC03M040586 ZNF621
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CTNNB1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CTNNB1 Gene

Chromosome:
3
Start:
41,194,837 bp from pter
End:
41,260,096 bp from pter
Size:
65,260 bases
Orientation:
Plus strand

Genomic View for CTNNB1 Gene

Genes around CTNNB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTNNB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CTNNB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTNNB1 Gene

Proteins for CTNNB1 Gene

  • Protein details for CTNNB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35222-CTNB1_HUMAN
    Recommended name:
    Catenin beta-1
    Protein Accession:
    P35222
    Secondary Accessions:
    • A8K1L7
    • Q8NEW9
    • Q8NI94
    • Q9H391

    Protein attributes for CTNNB1 Gene

    Size:
    781 amino acids
    Molecular mass:
    85497 Da
    Quaternary structure:
    • 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. Interacts with TAX1BP3 (via the PDZ domain); this interaction inhibits the transcriptional activity of CTNNB1. Interacts with AJAP1, BAIAP1, CARM1, CTNNA3, CXADR and PCDH11Y. Binds SLC9A3R1. Interacts with GLIS2 and MUC1. Interacts with SLC30A9. Interacts with XIRP1. Interacts directly with AXIN1; the interaction is regulated by CDK2 phosphorylation of AXIN1. Interacts with SCRIB. Interacts with RAPGEF2. 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. Interacts with PTPRJ. Interacts with PKT7 and CDK2. Interacts with FAT1 (via the cytoplasmic domain). 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. Interacts with RORA. May interact with P-cadherin/CDH3. Interacts with RNF220 (PubMed:25266658). Interacts with CTNND2 (PubMed:25807484). Interacts (via the C-terminal region) with CBY1 (PubMed:12712206, PubMed:16424001).
    SequenceCaution:
    • Sequence=BAB93475.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CTNNB1 Gene

    Alternative splice isoforms for CTNNB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CTNNB1 Gene

Post-translational modifications for CTNNB1 Gene

  • Deacetylated at Lys-49 by SIRT1.
  • O-glycosylation at Ser-23 decreases nuclear localization and transcriptional activity, and increases localization to the plasma membrane and interaction with E-cadherin CDH1.
  • 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 activity.
  • 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.
  • 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).
  • Ubiquitination at Lys 19, Lys 133, Lys 158, Lys 170, Lys 233, Lys 335, Lys 345, Lys 354, Lys 435, and Lys 508
  • Glycosylation at Ser 23
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for CTNNB1 (beta-Catenin)
  • Cell Signaling Technology (CST) Antibodies for CTNNB1 (CTNNB1)
  • Cloud-Clone Corp. Antibodies for CTNNB1

No data available for DME Specific Peptides for CTNNB1 Gene

Domains & Families for CTNNB1 Gene

Gene Families for CTNNB1 Gene

Protein Domains for CTNNB1 Gene

Suggested Antigen Peptide Sequences for CTNNB1 Gene

Graphical View of Domain Structure for InterPro Entry

P35222

UniProtKB/Swiss-Prot:

CTNB1_HUMAN :
  • Belongs to the beta-catenin family.
  • Contains 12 ARM repeats.
Family:
  • Belongs to the beta-catenin family.
Similarity:
  • Contains 12 ARM repeats.
genes like me logo Genes that share domains with CTNNB1: view

Function for CTNNB1 Gene

Molecular function for CTNNB1 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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 (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22647378, PubMed:22699938, PubMed:22155184). Promotes neurogenesis by maintaining sympathetic neuroblasts within the cell cycle (By similarity).

Gene Ontology (GO) - Molecular Function for CTNNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001085 RNA polymerase II transcription factor binding IPI 18936100
GO:0001102 RNA polymerase II activating transcription factor binding IPI 19443654
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0003690 double-stranded DNA binding IEA --
genes like me logo Genes that share ontologies with CTNNB1: view
genes like me logo Genes that share phenotypes with CTNNB1: view

Human Phenotype Ontology for CTNNB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CTNNB1 Gene

MGI Knock Outs for CTNNB1:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CTNNB1 Gene

Localization for CTNNB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTNNB1 Gene

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. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CTNNB1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
lysosome 1
golgi apparatus 1
endosome 1

Gene Ontology (GO) - Cellular Components for CTNNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA --
GO:0005634 nucleus IEA,IDA 9707618
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IDA 11751639
GO:0005719 nuclear euchromatin IDA 22723415
genes like me logo Genes that share ontologies with CTNNB1: view

Pathways & Interactions for CTNNB1 Gene

SuperPathways for CTNNB1 Gene

SuperPathway Contained pathways
1 T41 mutants of beta-catenin arent phosphorylated
2 Regulation of activated PAK-2p34 by proteasome mediated degradation
.32
3 Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways
4 Endometrial cancer
5 Cell junction organization
genes like me logo Genes that share pathways with CTNNB1: view

Pathways by source for CTNNB1 Gene

Gene Ontology (GO) - Biological Process for CTNNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0000578 embryonic axis specification IEA --
GO:0000904 cell morphogenesis involved in differentiation IEA --
GO:0001501 skeletal system development IEA --
GO:0001569 branching involved in blood vessel morphogenesis IC 20123964
genes like me logo Genes that share ontologies with CTNNB1: view

Drugs & Compounds for CTNNB1 Gene

(114) Drugs for CTNNB1 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Urea Approved Pharma Target 0
Dexamethasone Approved, Investigational, Vet_approved Pharma Agonist 2084
Lithium Approved Pharma 0
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 2829
Lenalidomide Approved Pharma Anti-angiogenic. 718

(65) Additional Compounds for CTNNB1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
WAY 316606 hydrochloride

(5) Tocris Compounds for CTNNB1 Gene

Compound Action Cas Number
ICG 001 Inhibits TCF/beta-catenin-mediated transcription 847591-62-2
iCRT 14 Inhibits beta-catenin-responsive transcription (CRT) 677331-12-3
IWP 4 Potent inhibitor of Wnt/beta-catenin signaling 686772-17-8
PNU 74654 beta-catenin binder; inhibits Wnt signaling 113906-27-7
WAY 316606 hydrochloride Secreted Frizzled-related protein-1 (sFRP-1) inhibitor; increases Wnt signaling

(28) ApexBio Compounds for CTNNB1 Gene

Compound Action Cas Number
Cardiogenol C hydrochloride 1049741-55-0
Cardionogen 1 577696-37-8
CCT 031374 hydrobromide Inhibits TCF-dependent transcription 1219184-91-4
CCT251545 Orally bioavailable and potent WNT signaling inhibitor 1661839-45-7
exo-IWR 1 1127442-87-8
FH535 Wnt/B-catenin inhibitor 108409-83-2
ICG 001 Wnt/β-catenin pathway inhibitor 847591-62-2
iCRT 14 CRT inhibitor 677331-12-3
IDE 1 1160927-48-9
IDE 2 1136466-93-7
IQ 1 331001-62-8
ISX 9 832115-62-5
IWP 4 686772-17-8
IWR-1-endo Potent Wnt signaling inhibitor 1127442-82-3
JW 67 442644-28-2
Kartogenin 4727-31-5
KHS 101 hydrochloride
KY 02111 WNT signaling inhibitor 1118807-13-8
LGK-974 PORCN inhibitor,potent and specific 1243244-14-5
Neurodazine 937807-66-4
PNU 74654 113906-27-7
QS 11 Wnt synergistic agonist 944328-88-5
Salinomycin Polyether ionophore antibiotic;anti-cancer 53003-10-4
Shz 1 326886-05-9
TCS 2210 1201916-31-5
WAY-262611 1123231-07-1
Windorphen Wnt inhibitor 19881-70-0
Wnt-C59 PORCN inhibitor,highly potent and selective 1243243-89-1
genes like me logo Genes that share compounds with CTNNB1: view

Drug Products

Transcripts for CTNNB1 Gene

Unigene Clusters for CTNNB1 Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CTNNB1 Gene

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: - - - - - - - - -
SP6: - -
SP7: - - - - -
SP8: - - - - - -
SP9: - - -
SP10:
SP11:
SP12:
SP13:
SP14:

ExUns: 15c · 15d ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b · 18c · 18d ^ 19 ^ 20 ^ 21a · 21b
SP1: - - -
SP2: - - -
SP3: - - - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: -
SP11:
SP12: - -
SP13: -
SP14:

Relevant External Links for CTNNB1 Gene

GeneLoc Exon Structure for
CTNNB1
ECgene alternative splicing isoforms for
CTNNB1

Expression for CTNNB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CTNNB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CTNNB1 Gene

This gene is overexpressed in Fetal Brain (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CTNNB1 Gene



Protein tissue co-expression partners for CTNNB1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CTNNB1 Gene:

CTNNB1

SOURCE GeneReport for Unigene cluster for CTNNB1 Gene:

Hs.476018

mRNA Expression by UniProt/SwissProt for CTNNB1 Gene:

P35222-CTNB1_HUMAN
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).
genes like me logo Genes that share expression patterns with CTNNB1: view

Primer Products

No data available for mRNA differential expression in normal tissues for CTNNB1 Gene

Orthologs for CTNNB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CTNNB1 Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia CTNNB1 35
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CTNNB1 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CTNNB1 34 35
  • 99.66 (n)
dog
(Canis familiaris)
Mammalia CTNNB1 34 35
  • 95.82 (n)
cow
(Bos Taurus)
Mammalia CTNNB1 34 35
  • 94.58 (n)
mouse
(Mus musculus)
Mammalia Ctnnb1 34 16 35
  • 90.52 (n)
rat
(Rattus norvegicus)
Mammalia Ctnnb1 34
  • 89.8 (n)
chicken
(Gallus gallus)
Aves CTNNB1 34 35
  • 84.59 (n)
lizard
(Anolis carolinensis)
Reptilia CTNNB1 35
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ctnnb1 34
  • 82.03 (n)
African clawed frog
(Xenopus laevis)
Amphibia ctnnb1-prov 34
zebrafish
(Danio rerio)
Actinopterygii ctnnb1 34 35
  • 78.42 (n)
-- 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8312 34
fruit fly
(Drosophila melanogaster)
Insecta arm 36 34 35
  • 64.35 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta ARM_ANOGA 34
  • 62.68 (n)
worm
(Caenorhabditis elegans)
Secernentea hmp-2 36 34
  • 47.62 (n)
bar-1 36
  • 26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7922 35
  • 70 (a)
OneToOne
Species where no ortholog for CTNNB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CTNNB1 Gene

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

Paralogs for CTNNB1 Gene

Paralogs for CTNNB1 Gene

(1) SIMAP similar genes for CTNNB1 Gene using alignment to 9 proteins:

Pseudogenes.org Pseudogenes for CTNNB1 Gene

genes like me logo Genes that share paralogs with CTNNB1: view

Variants for CTNNB1 Gene

Sequence variations from dbSNP and Humsavar for CTNNB1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs121913228 Medulloblastoma (MDB) [MIM:155255] 41,224,621(+) TCCAT(C/G/T)CTGGT reference, missense
rs121913396 Hepatocellular carcinoma, Pilomatrixoma (PTR) [MIM:132600], Pathogenic 41,224,607(+) CCTGG(A/C/G/T)CTCTG reference, missense
rs121913399 Hepatocellular carcinoma 41,224,612(+) ACTCT(A/G)GAATC reference, missense
rs121913400 Medulloblastoma (MDB) [MIM:155255], Pilomatrixoma (PTR) [MIM:132600], Colorectal cancer (CRC) [MIM:114500], Pilomatrixoma (PTR) [MIM:132600], Pathogenic 41,224,610(+) GGACT(A/C/G/T)TGGAA reference, missense
rs121913403 Ovarian cancer (OC) [MIM:167000], Pilomatrixoma (PTR) [MIM:132600], Pilomatrixoma (PTR) [MIM:132600], Hepatocellular carcinoma, Pathogenic 41,224,622(+) CCATT(A/C/G/T)TGGTG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CTNNB1 Gene

Variant ID Type Subtype PubMed ID
esv274874 CNV loss 21479260
esv275401 CNV gain+loss 21479260
esv275482 CNV gain+loss 21479260
nsv1002152 CNV gain 25217958
nsv1010088 CNV gain 25217958
nsv954468 CNV duplication 24416366

Variation tolerance for CTNNB1 Gene

Residual Variation Intolerance Score: 8.04% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.37; 8.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CTNNB1 Gene

Human Gene Mutation Database (HGMD)
CTNNB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CTNNB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTNNB1 Gene

Disorders for CTNNB1 Gene

MalaCards: The human disease database

(110) MalaCards diseases for CTNNB1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas
  • pilomatricoma, somatic
mental retardation, autosomal dominant 19
  • severe intellectual disability-progressive spastic diplegia syndrome
colorectal cancer
  • colorectal cancer, somatic
hepatocellular carcinoma
  • hepatocellular carcinoma, somatic
medulloblastoma
  • medulloblastoma, desmoplastic
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CTNB1_HUMAN
  • 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. {ECO:0000269 PubMed:9065402}. Note=The gene represented in this entry may be involved in disease pathogenesis.
  • Medulloblastoma (MDB) [MIM:155255]: Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. {ECO:0000269 PubMed:10666372}. 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. {ECO:0000269 PubMed:23033978, ECO:0000269 PubMed:25326669}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:11464291}. Note=The gene represented in this entry may be involved in disease pathogenesis.
  • 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.
  • 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.
  • 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. {ECO:0000269 PubMed:10391090}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Pilomatrixoma (PTR) [MIM:132600]: Common benign skin tumor. {ECO:0000269 PubMed:10192393, ECO:0000269 PubMed:11703283}. Note=The gene represented in this entry is involved in disease pathogenesis.

Relevant External Links for CTNNB1

Genetic Association Database (GAD)
CTNNB1
Human Genome Epidemiology (HuGE) Navigator
CTNNB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CTNNB1
genes like me logo Genes that share disorders with CTNNB1: view

No data available for Genatlas for CTNNB1 Gene

Publications for CTNNB1 Gene

  1. Unique phenotype of hepatocellular cancers with exon-3 mutations in beta-catenin gene. (PMID: 19101982) Cieply B. … Monga S.P. (Hepatology 2009) 3 22 46 64
  2. Clinicopathological and molecular analysis of endometrial carcinoma associated with tamoxifen. (PMID: 18500270) Turbiner J. … Palacios J. (Mod. Pathol. 2008) 3 22 46 64
  3. The tumor suppressor Fhit acts as a repressor of beta-catenin transcriptional activity. (PMID: 18077326) Weiske J. … Huber O. (Proc. Natl. Acad. Sci. U.S.A. 2007) 3 4 22 64
  4. Physical and functional interaction between receptor-like protein tyrosine phosphatase PCP-2 and beta-catenin. (PMID: 12501215) Yan H.-X. … Wang H.-Y. (Biochemistry 2002) 3 4 22 64
  5. Tcf4 can specifically recognize beta-catenin using alternative conformations. (PMID: 11713475) Graham T.A. … Xu W. (Nat. Struct. Biol. 2001) 3 4 22 64

Products for CTNNB1 Gene