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Aliases for CTNNB1 Gene

Aliases for CTNNB1 Gene

  • Catenin Beta 1 2 3 5
  • Catenin (Cadherin-Associated Protein), Beta 1, 88kDa 2 3
  • Catenin (Cadherin-Associated Protein), Beta 1 2 3
  • CTNNB 3 4
  • Catenin (Cadherin-Associated Protein), Beta 1 (88kD) 2
  • 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. 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 Beta 1) is a Protein Coding gene. Diseases associated with CTNNB1 include colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas and colorectal cancer. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Signaling by GPCR. 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

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

Proteomics data for CTNNB1 Gene at MOPED

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)

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:0005515 protein binding IEA,IPI 7890674
GO:0008022 protein C-terminus binding IPI 10773885
GO:0070491 repressing transcription factor 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

In Situ Assay 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
Jensen Localization Image for CTNNB1 Gene COMPARTMENTS Subcellular localization image for CTNNB1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
nucleus 5
plasma membrane 5
endoplasmic reticulum 2
mitochondrion 2
vacuole 2
endosome 1
golgi apparatus 1
lysosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CTNNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005938 cell cortex IDA 19038973
GO:0016323 basolateral plasma membrane IDA 24862762
GO:0043234 protein complex IDA 22083958
GO:0044798 nuclear transcription factor complex IEA --
genes like me logo Genes that share ontologies with CTNNB1: view

Pathways & Interactions for CTNNB1 Gene

SuperPathways for CTNNB1 Gene

Superpath Contained pathways
1 S45 mutants of beta-catenin arent phosphorylated
2 Apoptotic cleavage of cellular proteins
.32
3 Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways
4 Cell junction organization
5 CDK-mediated phosphorylation and removal of Cdc6
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:0001569 patterning of blood vessels IC 20123964
GO:0001701 in utero embryonic development IEA --
genes like me logo Genes that share ontologies with CTNNB1: view

Drugs & Compounds for CTNNB1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dexamethasone Approved, Investigational Pharma Agonist 1909
Lithium Approved Pharma 0
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 2643
Lenalidomide Approved Pharma Anti-angiogenic. 674
Thalidomide Approved, Investigational, Withdrawn Pharma Immunomodulatory agent,sedative drug,angiogenesis inhibitor, Immunomodulatory agents, TNF-alpha synthesis inhibitor 808

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Calphostin C
121263-19-2
endo-IWR 1
1127442-82-3
exo-IWR 1
1127442-87-8
PNU 74654
113906-27-7
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:

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 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, MOPED, and MaxQB for CTNNB1 Gene



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

Protein tissue co-expression partners for CTNNB1 Gene

Primer Products

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia CTNNB1 36
  • 100 (a)
OneToOne
CTNNB1 35
  • 99.66 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia CTNNB1 35
  • 94.58 (n)
  • 99.87 (a)
CTNNB1 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CTNNB1 36
  • 100 (a)
OneToOne
CTNNB1 35
  • 95.82 (n)
  • 99.87 (a)
mouse
(Mus musculus)
Mammalia Ctnnb1 16
Ctnnb1 36
  • 100 (a)
OneToOne
Ctnnb1 35
  • 90.52 (n)
  • 99.87 (a)
oppossum
(Monodelphis domestica)
Mammalia CTNNB1 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CTNNB1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ctnnb1 35
  • 89.8 (n)
  • 99.74 (a)
chicken
(Gallus gallus)
Aves CTNNB1 35
  • 84.59 (n)
  • 99.36 (a)
CTNNB1 36
  • 100 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CTNNB1 36
  • 100 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia ctnnb1-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ctnnb1 35
  • 82.03 (n)
  • 97.95 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8312 35
zebrafish
(Danio rerio)
Actinopterygii ctnnb1 36
  • 98 (a)
OneToOne
-- 35
ctnnb1 35
  • 78.42 (n)
  • 97.31 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta ARM_ANOGA 35
  • 62.68 (n)
  • 71.41 (a)
fruit fly
(Drosophila melanogaster)
Insecta arm 37
  • 67 (a)
arm 35
  • 64.35 (n)
  • 73.66 (a)
arm 36
  • 63 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea hmp-2 35
  • 47.62 (n)
  • 38.88 (a)
bar-1 37
  • 26 (a)
hmp-2 37
  • 34 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7922 36
  • 70 (a)
OneToOne
Species with no ortholog for CTNNB1:
  • 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
VAR_017612 Hepatocellular carcinoma
VAR_017614 Hepatocellular carcinoma
VAR_017615 Pilomatrixoma (PTR)
rs28931588 Pilomatrixoma (PTR) 41,224,606(+) ACCTG(A/C/G/T)ACTCT reference, missense
VAR_017617 Medulloblastoma (MDB)

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

Variant ID Type Subtype PubMed ID
esv274874 CNV Loss 21479260
esv275482 CNV Gain+Loss 21479260
esv275401 CNV Gain+Loss 21479260

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

HapMap Linkage Disequilibrium report
CTNNB1
Human Gene Mutation Database (HGMD)
CTNNB1

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

Disorders for CTNNB1 Gene

MalaCards: The human disease database

(121) 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
colorectal cancer
  • colorectal cancer, somatic
mental retardation, autosomal dominant 19
  • mrd19
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.
  • 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. {ECO:0000269 PubMed:10192393, ECO:0000269 PubMed:11703283}. Note=The gene represented in this entry is 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.
  • 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.
  • 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. {ECO:0000269 PubMed:11464291}. 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.

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. Beta-catenin expression in pilomatrixomas. Relationship with beta- catenin gene mutations and comparison with beta-catenin expression in normal hair follicles. (PMID: 11703283) Moreno-Bueno G. … Palacios J. (Br. J. Dermatol. 2001) 3 4 23 67
  2. High FFA-induced proliferation and apoptosis in human umbilical vein endothelial cell partly through Wnt/beta-catenin signal pathway. (PMID: 19967550) Zhu P. … Lin L. (Mol. Cell. Biochem. 2010) 3 23
  3. Epidermal growth factor receptor regulates beta-catenin location, stability, and transcriptional activity in oral cancer. (PMID: 20302655) Lee C.H. … Shieh Y.S. (Mol. Cancer 2010) 3 23
  4. Hepatitis C virus NS5A protein interacts with beta-catenin and stimulates its transcriptional activity in a phosphoinositide-3 kinase-dependent fashion. (PMID: 19846673) Milward A. … Harris M. (J. Gen. Virol. 2010) 3 23
  5. Small-molecule inhibitors of phosphatidylinositol 3-kinase/Akt signaling inhibit Wnt/beta-catenin pathway cross-talk and suppress medulloblastoma growth. (PMID: 20028853) Baryawno N. … Johnsen J.I. (Cancer Res. 2010) 3 23

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