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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
EVR7, NEDSDV
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:0000209 Process Protein polyubiquitination IDA 29374064
GO:0000791 Component Euchromatin IDA 22723415
GO:0000922 Component Spindle pole IEA
GO:0001085 Function RNA polymerase II transcription factor binding IDA 12651860, 18193033, 18579517
GO:0001085 Function RNA polymerase II transcription factor binding IPI 18936100
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Myopia Myopia GWAS
Associations from Text Mining
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