Gene Gene information from NCBI Gene database.
Entrez ID 1499
Gene name Catenin beta 1
Gene symbol CTNNB1
Synonyms (NCBI Gene)
CTNNBEVR7MRD19NEDSDVarmadillo
Chromosome 3
Chromosome location 3p22.1
Summary 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.
89
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.
314
miRTarBase ID miRNA Experiments Reference
MIRT001175 hsa-miR-200a-3p qRT-PCRLuciferase reporter assayWestern blot 19703993
MIRT001175 hsa-miR-200a-3p qRT-PCRLuciferase reporter assayWestern blot 19703993
MIRT001175 hsa-miR-200a-3p Luciferase reporter assay 19703993
MIRT001175 hsa-miR-200a-3p Luciferase reporter assayqRT-PCRWestern blot 19931509
MIRT001557 hsa-miR-155-5p pSILAC 18668040
Transcription factors Transcription factors information provided by TRRUST V2 database.
10
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
363
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
116806 2514 ENSG00000168036
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
377
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity Pathogenic rs886039332 RCV000984346
Abnormality of the nervous system Likely pathogenic rs2125645060 RCV001814516
Absent speech Likely pathogenic rs1553632357 RCV000626747
Adamantinous craniopharyngioma Pathogenic; Likely pathogenic rs121913400, rs121913396, rs121913403, rs121913412, rs28931588, rs28931589, rs121913413, rs121913399 RCV006253629
RCV006253632
RCV006253636
RCV006253641
RCV006253645
RCV006253647
RCV006253652
RCV006253654
RCV006253657
RCV006253662
RCV006253987
RCV006253992
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs2293302 RCV005909743
Cervical cancer Benign rs2293302 RCV005909747
Cholangiocarcinoma Benign rs2293302, rs3774369 RCV005909756
RCV005922949
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign rs2293302 RCV005909759
Associations from Text MiningDisease 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