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CTNNB1

catenin beta 1, the group of Beta catenins|Armadillo repeat containing|Wnt enhanceosome complex

Basic information

Region (hg38): 3:41194740-41260096

Previous symbols: [ "CTNNB" ]

Links

ENSG00000168036NCBI:1499OMIM:116806HGNC:2514Uniprot:P35222AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • severe intellectual disability-progressive spastic diplegia syndrome (Definitive), mode of inheritance: AD
  • exudative vitreoretinopathy 7 (Moderate), mode of inheritance: AD
  • severe intellectual disability-progressive spastic diplegia syndrome (Strong), mode of inheritance: AD
  • severe intellectual disability-progressive spastic diplegia syndrome (Strong), mode of inheritance: AD
  • exudative vitreoretinopathy (Supportive), mode of inheritance: AD
  • severe intellectual disability-progressive spastic diplegia syndrome (Supportive), mode of inheritance: Unknown
  • exudative vitreoretinopathy 7 (Strong), mode of inheritance: AD
  • severe intellectual disability-progressive spastic diplegia syndrome (Strong), mode of inheritance: AD
  • severe intellectual disability-progressive spastic diplegia syndrome (Definitive), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Exudative vitreoretinopathy 7; Neurodevelopmental disorder with spastic diplegia and visual defect (Mental retardation, autosomal dominant 19)ADGeneralGenetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testingCraniofacial; Neurologic; Ophthalmologic23033978; 24614104; 24668549; 25326669; 27915094; 28514307; 28575650

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CTNNB1 gene.

  • not provided (491 variants)
  • Severe intellectual disability-progressive spastic diplegia syndrome (66 variants)
  • Inborn genetic diseases (35 variants)
  • not specified (22 variants)
  • CTNNB1-related condition (11 variants)
  • 7 conditions (7 variants)
  • Hepatocellular carcinoma (7 variants)
  • Exudative vitreoretinopathy 7 (6 variants)
  • Intellectual disability (6 variants)
  • Colorectal cancer (3 variants)
  • CTNNB1-related syndromic intellectual disability (3 variants)
  • Malignant neoplasm of body of uterus (2 variants)
  • Neurodevelopmental disorder (2 variants)
  • Prostate adenocarcinoma (2 variants)
  • Malignant melanoma of skin (2 variants)
  • Endometrium neoplasm (1 variants)
  • Adrenal cortex carcinoma (1 variants)
  • Global developmental delay (1 variants)
  • Transitional cell carcinoma of the bladder (1 variants)
  • Neoplasm of uterine cervix (1 variants)
  • Developmental disorder (1 variants)
  • Lung adenocarcinoma (1 variants)
  • Neurodevelopmental delay (1 variants)
  • See cases (1 variants)
  • Abnormality of the nervous system (1 variants)
  • Pancreatic adenocarcinoma (1 variants)
  • Abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity (1 variants)
  • Microcephalic primordial dwarfism, Alazami type (1 variants)
  • Autosomal dominant polycystic liver disease (1 variants)
  • Neoplasm of the large intestine (1 variants)
  • Atypical endometrial hyperplasia (1 variants)
  • Hepatoblastoma (1 variants)
  • Exudative vitreoretinopathy 1 (1 variants)
  • CTNNB1-Related Disorder (1 variants)
  • Juvenile nasopharyngeal angiofibroma (1 variants)
  • Microcephaly;Global developmental delay;Teratoma;Imperforate anus;Absent speech (1 variants)
  • Gastric adenocarcinoma (1 variants)
  • Conspicuously happy disposition (1 variants)
  • Desmoid tumor (1 variants)
  • Medulloblastoma (1 variants)
  • Esophageal squamous cell carcinoma (1 variants)
  • CTNNB1-related disorders (1 variants)
  • Desmoid tumor caused by somatic mutation (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CTNNB1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
1
clinvar
99
clinvar
8
clinvar
108
missense
1
clinvar
9
clinvar
172
clinvar
5
clinvar
187
nonsense
41
clinvar
5
clinvar
46
start loss
1
clinvar
1
frameshift
75
clinvar
13
clinvar
1
clinvar
89
inframe indel
2
clinvar
4
clinvar
6
splice donor/acceptor (+/-2bp)
9
clinvar
7
clinvar
2
clinvar
1
clinvar
19
splice region
3
3
9
19
1
35
non coding
1
clinvar
68
clinvar
13
clinvar
82
Total 126 36 182 173 21

Variants in CTNNB1

This is a list of pathogenic ClinVar variants found in the CTNNB1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
3-41223742-C-T Likely benign (Jul 26, 2018)1208631
3-41223838-T-A Likely benign (Sep 02, 2019)1204525
3-41224011-CT-C Likely benign (Jul 11, 2022)1199102
3-41224060-G-C CTNNB1-related disorder Likely benign (Sep 11, 2019)3052758
3-41224069-A-G CTNNB1-related syndromic intellectual disability Uncertain significance (Jan 15, 2021)1199189
3-41224073-C-G Uncertain significance (Nov 03, 2022)1362552
3-41224092-T-C Likely benign (Mar 19, 2022)1610208
3-41224095-A-G Likely benign (Feb 27, 2023)2841324
3-41224100-T-G Likely benign (Jun 20, 2023)2717980
3-41224101-T-C Likely benign (Jul 07, 2023)1910748
3-41224508-A-T Likely benign (Feb 03, 2022)1630657
3-41224515-C-T Likely benign (Apr 07, 2022)1935666
3-41224516-G-A Likely benign (Jun 07, 2023)1191640
3-41224519-T-TTTA Likely benign (Jan 24, 2024)1934424
3-41224522-A-G not specified • 7 conditions Benign/Likely benign (Jan 30, 2024)128866
3-41224526-C-G Uncertain significance (Aug 10, 2022)1522381
3-41224527-T-C Likely benign (Apr 29, 2022)1552850
3-41224535-T-C Intellectual disability Likely benign (Jan 01, 2017)562026
3-41224539-G-A Likely benign (May 14, 2021)1558155
3-41224539-G-T Uncertain significance (Apr 01, 2022)2101198
3-41224549-G-A Melanoma Likely pathogenic (Jul 14, 2015)376223
3-41224552-A-G Uncertain significance (Mar 01, 2017)444598
3-41224553-T-C Uncertain significance (Apr 12, 2022)2115698
3-41224555-G-A Severe intellectual disability-progressive spastic diplegia syndrome Uncertain significance (Dec 12, 2018)635460
3-41224557-A-C not specified not provided (Sep 19, 2013)133952

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CTNNB1protein_codingprotein_codingENST00000349496 1465260
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.000.0000101125682011256830.00000398
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense3.851994210.4730.00002465096
Missense in Polyphen2276.4280.28785982
Synonymous0.1391391410.9850.000007131589
Loss of Function5.46136.70.02720.00000226409

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.00005440.0000544
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.00005440.0000544
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
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, as component of an E- cadherin:catenin adhesion complex. 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). {ECO:0000250|UniProtKB:Q02248, ECO:0000269|PubMed:17524503, ECO:0000269|PubMed:18077326, ECO:0000269|PubMed:18086858, ECO:0000269|PubMed:18957423, ECO:0000269|PubMed:21262353, ECO:0000269|PubMed:22155184, ECO:0000269|PubMed:22647378, ECO:0000269|PubMed:22699938}.;
Disease
DISEASE: 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.; DISEASE: 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.; DISEASE: Pilomatrixoma (PTR) [MIM:132600]: Common benign skin tumor. {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:11703283, ECO:0000269|PubMed:12027456}. Note=The gene represented in this entry is involved in disease pathogenesis.; DISEASE: Medulloblastoma (MDB) [MIM:155255]: Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. {ECO:0000269|PubMed:10666372, ECO:0000269|PubMed:12027456}. Note=The gene represented in this entry may be involved in disease pathogenesis.; DISEASE: 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.; DISEASE: 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.; DISEASE: 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.; DISEASE: 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, ECO:0000269|PubMed:28514307}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Vitreoretinopathy, exudative 7 (EVR7) [MIM:617572]: A form of exudative vitreoretinopathy, a disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. {ECO:0000269|PubMed:28575650}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Pathway
Gastric cancer - Homo sapiens (human);Focal adhesion - Homo sapiens (human);Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human);Adherens junction - Homo sapiens (human);Cushing,s syndrome - Homo sapiens (human);Arrhythmogenic right ventricular cardiomyopathy (ARVC) - Homo sapiens (human);Breast cancer - Homo sapiens (human);HTLV-I infection - Homo sapiens (human);Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human);Basal cell carcinoma - Homo sapiens (human);Hepatocellular carcinoma - Homo sapiens (human);Thyroid hormone signaling pathway - Homo sapiens (human);Prostate cancer - Homo sapiens (human);Hippo signaling pathway - Homo sapiens (human);Fluid shear stress and atherosclerosis - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);Bacterial invasion of epithelial cells - Homo sapiens (human);Pathogenic Escherichia coli infection - Homo sapiens (human);Proteoglycans in cancer - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Wnt signaling pathway - Homo sapiens (human);Thyroid cancer - Homo sapiens (human);Endometrial cancer - Homo sapiens (human);Colorectal cancer - Homo sapiens (human);Melanogenesis - Homo sapiens (human);Human papillomavirus infection - Homo sapiens (human);Leukocyte transendothelial migration - Homo sapiens (human);Celecoxib Pathway, Pharmacodynamics;WNT-Core;TGF-Ncore;Androgen receptor signaling pathway;MicroRNAs in cardiomyocyte hypertrophy;Heart Development;miR-targeted genes in leukocytes - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;TNF related weak inducer of apoptosis (TWEAK) Signaling Pathway;Neural Crest Differentiation;Arrhythmogenic Right Ventricular Cardiomyopathy;Pathogenic Escherichia coli infection;Corticotropin-releasing hormone signaling pathway;Adipogenesis;Gastric Cancer Network 2;Brain-Derived Neurotrophic Factor (BDNF) signaling pathway;Primary Focal Segmental Glomerulosclerosis FSGS;Hair Follicle Development- Induction (Part 1 of 3);Endoderm Differentiation;Ectoderm Differentiation;Extracellular vesicle-mediated signaling in recipient cells;Focal Adhesion;Rac1-Pak1-p38-MMP-2 pathway;Wnt Signaling Pathway;Regulation of Wnt-B-catenin Signaling by Small Molecule Compounds;Association Between Physico-Chemical Features and Toxicity Associated Pathways;VEGFA-VEGFR2 Signaling Pathway;ESC Pluripotency Pathways;H19 action Rb-E2F1 signaling and CDK-β-catenin activity;Role of Osx and miRNAs in tooth development;miRNA regulation of prostate cancer signaling pathways;Wnt Signaling Pathway and Pluripotency;PTF1A related regulatory pathway;Wnt Signaling in Kidney Disease;Endometrial cancer;Chromosomal and microsatellite instability in colorectal cancer;EMT transition in Colorectal Cancer;Wnt Signaling Pathway;TGF-beta Receptor Signaling;Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways;DNA Damage Response (only ATM dependent);Developmental Biology;Degradation of beta-catenin by the destruction complex;Disease;Signaling by WNT;Signal Transduction;Gene expression (Transcription);RUNX3 regulates WNT signaling;Transcriptional regulation by RUNX3;trefoil factors initiate mucosal healing;wnt signaling pathway;segmentation clock;VEGFA-VEGFR2 Pathway;multi-step regulation of transcription by pitx2;Generic Transcription Pathway;Hedgehog;LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production;RNA Polymerase II Transcription;TCR;Infectious disease;Apoptotic cleavage of cell adhesion proteins;Apoptotic cleavage of cellular proteins;Innate Immune System;Immune System;Apoptotic execution phase;Apoptosis;Programmed Cell Death;Fibroblast growth factor-1;inactivation of gsk3 by akt causes accumulation of b-catenin in alveolar macrophages;Disassembly of the destruction complex and recruitment of AXIN to the membrane;BCR;AndrogenReceptor;Deactivation of the beta-catenin transactivating complex;RHO GTPases activate IQGAPs;CDO in myogenesis;Myogenesis;RHO GTPase Effectors;Signaling by Rho GTPases;TGF_beta_Receptor;Ca2+ pathway;Beta-catenin independent WNT signaling;Coregulation of Androgen receptor activity;E-cadherin signaling in keratinocytes;Posttranslational regulation of adherens junction stability and dissassembly;Beta-catenin phosphorylation cascade;Gastrin;Signaling by VEGF;Arf6 trafficking events;IL5;Wnt;Integrin-linked kinase signaling;Cytosolic sensors of pathogen-associated DNA ;Cell-cell junction organization;Adherens junctions interactions;Cell junction organization;Signaling by Receptor Tyrosine Kinases;Cell-Cell communication;Wnt Canonical;Regulation of nuclear beta catenin signaling and target gene transcription;Stabilization and expansion of the E-cadherin adherens junction;Degradation of beta catenin;RAC1 signaling pathway;Nectin adhesion pathway;CDC42 signaling events;Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met);N-cadherin signaling events;AP-1 transcription factor network;Binding of TCF/LEF:CTNNB1 to target gene promoters;Formation of the beta-catenin:TCF transactivating complex;TCF dependent signaling in response to WNT;Canonical Wnt signaling pathway;FoxO family signaling;Wnt Mammals;Presenilin action in Notch and Wnt signaling;Signaling events mediated by VEGFR1 and VEGFR2;TGF-beta receptor signaling;E-cadherin signaling in the nascent adherens junction;VEGFR2 mediated vascular permeability;InlA-mediated entry of Listeria monocytogenes into host cells;Listeria monocytogenes entry into host cells (Consensus)

Recessive Scores

pRec
0.996

Intolerance Scores

loftool
0.208
rvis_EVS
-0.58
rvis_percentile_EVS
18.44

Haploinsufficiency Scores

pHI
1.00
hipred
Y
hipred_score
0.783
ghis
0.657

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
1.00

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ctnnb1
Phenotype
homeostasis/metabolism phenotype; cellular phenotype; craniofacial phenotype; muscle phenotype; taste/olfaction phenotype; endocrine/exocrine gland phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); embryo phenotype; skeleton phenotype; renal/urinary system phenotype; immune system phenotype; vision/eye phenotype; digestive/alimentary phenotype; limbs/digits/tail phenotype; hearing/vestibular/ear phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); pigmentation phenotype; neoplasm; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); reproductive system phenotype; normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); liver/biliary system phenotype; respiratory system phenotype;

Zebrafish Information Network

Gene name
ctnnb1
Affected structure
post-vent region
Phenotype tag
abnormal
Phenotype quality
curved ventral

Gene ontology

Biological process
negative regulation of transcription by RNA polymerase II;embryonic axis specification;cell morphogenesis involved in differentiation;branching involved in blood vessel morphogenesis;branching involved in ureteric bud morphogenesis;in utero embryonic development;gastrulation with mouth forming second;cell fate specification;endodermal cell fate commitment;neuron migration;epithelial to mesenchymal transition;neural plate development;positive regulation of neuroblast proliferation;positive regulation of mesenchymal cell proliferation;lens morphogenesis in camera-type eye;regulation of secondary heart field cardioblast proliferation;metanephros morphogenesis;negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis;cell adhesion;cell-matrix adhesion;Wnt signaling pathway, calcium modulating pathway;chemical synaptic transmission;ectoderm development;glial cell fate determination;negative regulation of cell population proliferation;anterior/posterior axis specification;dorsal/ventral axis specification;proximal/distal pattern formation;positive regulation of epithelial to mesenchymal transition;positive regulation of heparan sulfate proteoglycan biosynthetic process;viral process;Wnt signaling pathway;negative regulation of angiogenesis;stem cell population maintenance;layer formation in cerebral cortex;central nervous system vasculogenesis;osteoclast differentiation;androgen receptor signaling pathway;male genitalia development;hindbrain development;regulation of centriole-centriole cohesion;pancreas development;hair follicle morphogenesis;regulation of myelination;positive regulation of telomere maintenance via telomerase;negative regulation of chondrocyte differentiation;response to estradiol;positive regulation of type I interferon production;T cell differentiation in thymus;negative regulation of protein sumoylation;adherens junction assembly;protein localization to cell surface;embryonic heart tube development;genitalia morphogenesis;embryonic forelimb morphogenesis;embryonic hindlimb morphogenesis;hair cell differentiation;entry of bacterium into host cell;embryonic skeletal limb joint morphogenesis;regulation of T cell proliferation;odontogenesis of dentin-containing tooth;response to drug;embryonic digit morphogenesis;positive regulation of apoptotic process;negative regulation of apoptotic process;positive regulation of I-kappaB kinase/NF-kappaB signaling;positive regulation of MAPK cascade;positive regulation of neuron apoptotic process;canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition;canonical Wnt signaling pathway involved in negative regulation of apoptotic process;bone resorption;positive regulation of endothelial cell differentiation;positive regulation of osteoblast differentiation;negative regulation of osteoclast differentiation;positive regulation of fibroblast growth factor receptor signaling pathway;regulation of angiogenesis;negative regulation of transcription, DNA-templated;positive regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;negative regulation of mitotic cell cycle, embryonic;chromatin-mediated maintenance of transcription;regulation of fibroblast proliferation;cell maturation;synaptic vesicle transport;thymus development;oocyte development;embryonic foregut morphogenesis;positive regulation of skeletal muscle tissue development;regulation of smooth muscle cell proliferation;negative regulation of oligodendrocyte differentiation;regulation of neurogenesis;synapse organization;positive regulation of DNA-binding transcription factor activity;smooth muscle cell differentiation;positive regulation of muscle cell differentiation;positive regulation of histone H3-K4 methylation;regulation of timing of anagen;positive regulation of telomerase activity;oviduct development;canonical Wnt signaling pathway;trachea formation;epithelial tube branching involved in lung morphogenesis;lung cell differentiation;lung-associated mesenchyme development;lung induction;epithelial cell differentiation involved in prostate gland development;positive regulation of epithelial cell proliferation involved in prostate gland development;hair follicle placode formation;regulation of canonical Wnt signaling pathway;mesenchymal cell proliferation involved in lung development;endothelial tube morphogenesis;fungiform papilla formation;canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation;sympathetic ganglion development;cranial ganglion development;regulation of centromeric sister chromatid cohesion;cellular response to growth factor stimulus;cellular response to indole-3-methanol;renal vesicle formation;renal inner medulla development;renal outer medulla development;nephron tubule formation;regulation of nephron tubule epithelial cell differentiation;regulation of calcium ion import;synaptic vesicle clustering;cell-cell adhesion;negative regulation of oxidative stress-induced neuron death;positive regulation of chromatin-mediated maintenance of transcription;regulation of euchromatin binding;positive regulation of core promoter binding;beta-catenin-TCF complex assembly;beta-catenin destruction complex disassembly;cranial skeletal system development;midbrain dopaminergic neuron differentiation;canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation;neuron projection extension;embryonic brain development;dorsal root ganglion development;regulation of protein localization to cell surface;positive regulation of determination of dorsal identity;positive regulation of DNA-templated transcription, initiation;negative regulation of apoptotic signaling pathway
Cellular component
spindle pole;nucleus;nucleoplasm;transcription factor complex;nuclear euchromatin;cytoplasm;centrosome;cytosol;plasma membrane;cell-cell junction;adherens junction;cell-cell adherens junction;fascia adherens;bicellular tight junction;focal adhesion;cell cortex;membrane;basolateral plasma membrane;lateral plasma membrane;catenin complex;flotillin complex;Z disc;lamellipodium;cell junction;beta-catenin destruction complex;microvillus membrane;protein-containing complex;protein-DNA complex;Scrib-APC-beta-catenin complex;presynaptic membrane;apical part of cell;synapse;postsynaptic membrane;perinuclear region of cytoplasm;extracellular exosome;beta-catenin-TCF7L2 complex;cell periphery;Schaffer collateral - CA1 synapse;presynaptic active zone cytoplasmic component;postsynaptic density, intracellular component;beta-catenin-TCF complex;Wnt signalosome
Molecular function
RNA polymerase II transcription factor binding;RNA polymerase II activating transcription factor binding;chromatin binding;DNA-binding transcription factor activity;transcription coactivator activity;protein binding;protein C-terminus binding;transcription factor binding;enzyme binding;kinase binding;protein kinase binding;protein phosphatase binding;estrogen receptor binding;nuclear hormone receptor binding;ion channel binding;alpha-catenin binding;cadherin binding;SMAD binding;protein heterodimerization activity;androgen receptor binding;I-SMAD binding;repressing transcription factor binding;disordered domain specific binding