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Aliases for CTNNB1 Gene

Aliases for CTNNB1 Gene

  • Catenin (Cadherin-Associated Protein), Beta 1, 88kDa 2 3
  • CTNNB 3 4
  • MRD19 3 6
  • Catenin (Cadherin-Associated Protein), Beta 1 (88kD) 2
  • Catenin Beta-1 3
  • Beta-Catenin 4
  • Armadillo 3

External Ids for CTNNB1 Gene

Previous Symbols for CTNNB1 Gene

  • CTNNB

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 (Cadherin-Associated Protein), Beta 1, 88kDa) is a Protein Coding gene. Diseases associated with CTNNB1 include mental retardation, autosomal dominant 19 and colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas. Among its related pathways are Ras signaling pathway and Signaling by GPCR. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and protein kinase 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 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 Gene

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

Genomics for CTNNB1 Gene

Genomic Location for CTNNB1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CTNNB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTNNB1 Gene

Regulatory Elements 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).
    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

  • 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).
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys19, Lys133, Lys158, Lys170, Lys233, Lys335, Lys345, Lys354, Lys435, and Lys508

No data available for DME Specific Peptides for CTNNB1 Gene

Domains for CTNNB1 Gene

Gene Families for CTNNB1 Gene

HGNC:
  • ARMC :Armadillo repeat containing

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
Family:
  • Belongs to the beta-catenin family.:
    • P35222
Similarity:
  • Contains 12 ARM repeats.:
    • P35222
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:0001102 RNA polymerase II activating transcription factor binding IPI 19443654
GO:0003677 DNA binding --
GO:0003682 chromatin binding --
GO:0003690 double-stranded DNA binding IEA --
GO:0003700 sequence-specific DNA binding transcription factor activity IEA --
genes like me logo Genes that share ontologies with CTNNB1: view
genes like me logo Genes that share phenotypes with CTNNB1: view

Animal Models for CTNNB1 Gene

MGI Knock Outs for CTNNB1:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
nucleus 5
plasma membrane 5
extracellular 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 IDA 10980594
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 for CTNNB1 Gene

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

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 --
GO:0001501 skeletal system development --
GO:0001569 patterning of blood vessels IC 20123964
genes like me logo Genes that share ontologies with CTNNB1: view

Compounds for CTNNB1 Gene

(5) Tocris Compounds for CTNNB1 Gene

Compound Action Cas Number
CCT 031374 hydrobromide Inhibits TCF-dependent transcription; lowers beta-catenin levels [1219184-91-4]
FH 535 Inhibitor of Wnt/beta-catenin signaling [108409-83-2]
ICG 001 Inhibits TCF/beta-catenin-mediated transcription [847591-62-2]
iCRT 14 Inhibits beta-catenin-responsive transcription (CRT) [677331-12-3]
IWP 2 Inhibitor of Wnt processing and secretion; blocks beta-catenin accumulation [686770-61-6]

(1) HMDB Compounds for CTNNB1 Gene

Compound Synonyms Cas Number PubMed IDs
Lithium
  • Li
7439-93-2

(1) Drugbank Compounds for CTNNB1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Urea
57-13-6 target

(145) Novoseek inferred chemical compound relationships for CTNNB1 Gene

Compound -log(P) Hits PubMed IDs
glycogen 83.9 141
sb 415286 69 4
sb-216763 63.4 3
tyrosine 63.3 215
crcs 62 11
genes like me logo Genes that share compounds with CTNNB1: view

Transcripts for CTNNB1 Gene

Unigene Clusters for CTNNB1 Gene

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

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

Integrated Proteomics: protein expression 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 expressions with CTNNB1: view

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 35
  • 99.66 (n)
  • 100 (a)
CTNNB1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CTNNB1 35
  • 94.58 (n)
  • 99.87 (a)
CTNNB1 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CTNNB1 35
  • 95.82 (n)
  • 99.87 (a)
CTNNB1 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ctnnb1 35
  • 90.52 (n)
  • 99.87 (a)
Ctnnb1 16
Ctnnb1 36
  • 100 (a)
OneToOne
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 -- 35
ctnnb1 35
  • 78.42 (n)
  • 97.31 (a)
ctnnb1 36
  • 98 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta ARM_ANOGA 35
  • 62.68 (n)
  • 71.41 (a)
fruit fly
(Drosophila melanogaster)
Insecta arm 35
  • 64.35 (n)
  • 73.66 (a)
arm 36
  • 63 (a)
OneToOne
arm 37
  • 67 (a)
worm
(Caenorhabditis elegans)
Secernentea hmp-2 35
  • 47.62 (n)
  • 38.88 (a)
hmp-2 37
  • 34 (a)
bar-1 37
  • 26 (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

Selected 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 MAF
rs2953 -- 41,239,897(+) ATTTA(G/T)CAAAC utr-variant-3-prime
rs16339 -- 41,240,109(+) AACAC(-/TAA/TAAT)TAATT utr-variant-3-prime
rs1057513 -- 41,214,354(+) GATTG(A/C)CAGTT intron-variant
rs1058355 -- 41,240,304(+) AGTAA(A/G)AGGTG utr-variant-3-prime
rs1628844 -- 41,232,446(+) AGGGT(A/G)CCATA intron-variant

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

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

(5) OMIM Diseases for CTNNB1 Gene (116806)

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.

(95) Novoseek inferred disease relationships for CTNNB1 Gene

Disease -log(P) Hits PubMed IDs
familial adenomatous polyposis 93 129
colon cancer 81.3 184
colorectal cancer 79.9 192
tumors 79.4 333
colorectal tumors 76.9 39

Relevant External Links for CTNNB1

Genetic Association Database (GAD)
CTNNB1
Human Genome Epidemiology (HuGE) Navigator
CTNNB1
genes like me logo Genes that share disorders with CTNNB1: view

Publications for CTNNB1 Gene

  1. E-cadherin and APC compete for the interaction with beta-catenin and the cytoskeleton. (PMID: 7806582) Huelsken J. … Behrens J. (J. Cell Biol. 1994) 3 4 23
  2. Activation of beta-catenin-Tcf signaling in colon cancer by mutations in beta-catenin or APC. (PMID: 9065402) Morin P.J. … Kinzler K.W. (Science 1997) 3 4 23
  3. Beta-catenin accumulation and mutation of the CTNNB1 gene in hepatoblastoma. (PMID: 10398436) Blaeker H. … Otto H.F. (Genes Chromosomes Cancer 1999) 3 4 23
  4. Beta-catenin mutations in hepatocellular carcinoma correlate with a low rate of loss of heterozygosity. (PMID: 10435629) Legoix P. … Zucman-Rossi J. (Oncogene 1999) 3 4 23
  5. APC mutations in sporadic medulloblastomas. (PMID: 10666372) Huang H. … Ohgaki H. (Am. J. Pathol. 2000) 3 4 23

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