Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1499
Gene name Gene Name - the full gene name approved by the HGNC.
Catenin beta 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CTNNB1
Synonyms (NCBI Gene) Gene synonyms aliases
CTNNB, EVR7, MRD19, NEDSDV, armadillo
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p22.1
Summary Summary of gene provided in NCBI Entrez 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 prot
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28931588 G>A,C,T Pathogenic, other, likely-pathogenic Missense variant, coding sequence variant
rs28931589 G>A,C,T Uncertain-significance, pathogenic, other, likely-pathogenic Missense variant, coding sequence variant
rs77064436 T>C,G Likely-pathogenic Coding sequence variant, missense variant
rs121913228 T>C,G Likely-pathogenic Missense variant, coding sequence variant
rs121913394 G>A Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001175 hsa-miR-200a-3p qRT-PCR, Luciferase reporter assay, Western blot 19703993
MIRT001175 hsa-miR-200a-3p qRT-PCR, Luciferase reporter assay, Western blot 19703993
MIRT001175 hsa-miR-200a-3p Luciferase reporter assay 19703993
MIRT001175 hsa-miR-200a-3p Luciferase reporter assay, qRT-PCR, Western blot 19931509
MIRT001557 hsa-miR-155-5p pSILAC 18668040
Transcription factors
Transcription factor Regulation Reference
AR Activation 18535113
ESR1 Repression 16628468
LEF1 Unknown 11326276
NELFCD Repression 20735431
NKX2-5 Unknown 19479054
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000165 Process MAPK cascade IEA
GO:0000209 Process Protein polyubiquitination IDA 29374064
GO:0000578 Process Embryonic axis specification IEA
GO:0000791 Component Euchromatin IDA 22723415
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
116806 2514 ENSG00000168036
Protein
UniProt ID P35222
Protein name Catenin beta-1 (Beta-catenin)
Protein function Key downstream component of the canonical Wnt signaling pathway (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22155184, PubMed:22647378, PubMed:22699938). In the absence of Wnt, forms a complex with
PDB 1G3J , 1JDH , 1JPW , 1LUJ , 1P22 , 1QZ7 , 1T08 , 1TH1 , 2G57 , 2GL7 , 2Z6H , 3DIW , 3FQN , 3FQR , 3SL9 , 3SLA , 3TX7 , 4DJS , 6M90 , 6M91 , 6M92 , 6M93 , 6M94 , 6O9B , 6O9C , 6WLX , 6WNX , 7AFW , 7AR4 , 7UWI , 7UWO , 7ZRB , 8EI9 , 8EIA , 8EIB , 8EIC , 8RU3 , 8RU4 , 8VME , 8VMF , 8Y0G , 8Y0P , 8Y14 , 8Z0U , 8Z10 , 8Z5J , 8Z61
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00514 Arm 224 263 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 350 390 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 431 473 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 583 623 Armadillo/beta-catenin-like repeat Repeat
Tissue specificity 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). Expressed in breast cancer tissues (at
Sequence
MATQADLMELDMAMEPDRKAAVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEEEDVDTS
QVLYEWEQGFSQSFTQEQVADIDGQYAMTRAQRVRAAMFPETLDEGMQIPSTQFDAAHPT
NVQRLAEPSQMLKHAVVNLINYQDDAELATRAIPELTKLLNDEDQVVVNKAAVMVHQLSK
KEASRHAIMRSPQMVSAIVRTMQNTNDVETARCTAGTLHNLSHHREGLLAIFKSGGIPAL
VKMLGSPVDSVLFYAITTLHNLL
LHQEGAKMAVRLAGGLQKMVALLNKTNVKFLAITTDC
LQILAYGNQESKLIILASGGPQALVNIMRTYTYEKLLWTTSRVLKVLSVCSSNKPAIVEA
GGMQALGLHLTDPSQRLVQNCLWTLRNLSD
AATKQEGMEGLLGTLVQLLGSDDINVVTCA
AGILSNLTCNNYKNKMMVCQVGGIEALVRTVLRAGDREDITEPAICALRHLTSRHQEAEM
AQNAVRLHYGLPVVVKLLHPPSHWPLIKATVGLIRNLALCPANHAPLREQGAIPRLVQLL
VRAHQDTQRRTSMGGTQQQFVEGVRMEEIVEGCTGALHILARDVHNRIVIRGLNTIPLFV
QLLYSPIENIQRVAAGVLCELAQ
DKEAAEAIEAEGATAPLTELLHSRNEGVATYAAAVLF
RMSEDKPQDYKKRLSVELTSSLFRTEPMAWNETADLGLDIGAQGEPLGYRQDDPSYRSFH
SGGYGQDALGMDPMMEHEMGGHHPGADYPVDGLPDLGHAQDLMDGLPPGDSNQLAWFDTD
L
Sequence length 781
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Rap1 signaling pathway
Wnt signaling pathway
Hippo signaling pathway
Focal adhesion
Adherens junction
Signaling pathways regulating pluripotency of stem cells
Leukocyte transendothelial migration
Melanogenesis
Thyroid hormone signaling pathway
Cushing syndrome
Alcoholic liver disease
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Bacterial invasion of epithelial cells
Salmonella infection
Hepatitis C
Human cytomegalovirus infection
Human papillomavirus infection
Kaposi sarcoma-associated herpesvirus infection
Pathways in cancer
Proteoglycans in cancer
Colorectal cancer
Endometrial cancer
Prostate cancer
Thyroid cancer
Basal cell carcinoma
Breast cancer
Hepatocellular carcinoma
Gastric cancer
Arrhythmogenic right ventricular cardiomyopathy
Fluid shear stress and atherosclerosis
  Degradation of beta-catenin by the destruction complex
Beta-catenin phosphorylation cascade
TCF dependent signaling in response to WNT
Formation of the beta-catenin:TCF transactivating complex
LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production
Apoptotic cleavage of cell adhesion proteins
Deactivation of the beta-catenin transactivating complex
Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
Ca2+ pathway
Adherens junctions interactions
Binding of TCF/LEF:CTNNB1 to target gene promoters
Disassembly of the destruction complex and recruitment of AXIN to the membrane
VEGFR2 mediated vascular permeability
Myogenesis
Misspliced GSK3beta mutants stabilize beta-catenin
S33 mutants of beta-catenin aren't phosphorylated
S37 mutants of beta-catenin aren't phosphorylated
S45 mutants of beta-catenin aren't phosphorylated
T41 mutants of beta-catenin aren't phosphorylated
RHO GTPases activate IQGAPs
Transcriptional Regulation by VENTX
InlA-mediated entry of Listeria monocytogenes into host cells
RUNX3 regulates WNT signaling
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Exudative Vitreoretinopathy exudative vitreoretinopathy 1 rs1057519379, rs1057519380 N/A
Exudative vitreoretinopathy exudative vitreoretinopathy 7 rs886039332, rs1553631770, rs1057519380 N/A
Hepatoblastoma hepatoblastoma rs121913412 N/A
hepatocellular carcinoma Hepatocellular carcinoma rs778624338, rs1553631896, rs1575320216, rs121913407, rs1575330336 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
gallbladder cancer Gallbladder cancer N/A N/A ClinVar
Medulloblastoma medulloblastoma N/A N/A ClinVar
Myopia Myopia N/A N/A GWAS
Nephroblastoma nephroblastoma N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abdominal Neoplasms Associate 33213169
Abdominal Pain Associate 37358854
Aberrant Crypt Foci Stimulate 38554332
Abortion Habitual Associate 30806528
Abortion Spontaneous Associate 30806528
Accidental Injuries Associate 16367920
Achalasia Addisonianism Alacrimia syndrome Associate 28527916
Acth Independent Macronodular Adrenal Hyperplasia Associate 21252250
ACTH Secreting Pituitary Adenoma Associate 33287648, 34534321, 34852451, 35928898
Acute Disease Stimulate 18711353