desmoid tumor Mutations in the CTNNB1 gene can cause a type of aggressive but noncancerous (benign) growth called a desmoid tumor. CTNNB1 gene mutations are found in about 85 percent of all non-inherited (sporadic) desmoid tumors. These rare tumors arise from connective tissue, which provides strength and flexibility to structures such as bones, ligaments, and muscles. The tumors are often found in the abdomen, shoulders, upper arms, or upper legs. The CTNNB1 gene mutations that cause desmoid tumors are somatic, which means they are acquired during a person's lifetime and are present only in tumor cells. Somatic mutations are not inherited. The CTNNB1 gene mutations that cause desmoid tumors usually occur in a region of the gene called exon 3. They change single protein building blocks (amino acids) in the beta-catenin protein. These mutations lead to an abnormally stable beta-catenin protein that is not broken down when it is no longer needed. As a result, the protein accumulates within cells. Excess beta-catenin promotes the uncontrolled growth and division of cells, allowing the formation of desmoid tumors. ovarian cancer Genetics Home Reference provides information about ovarian cancer. pilomatricoma Somatic mutations in the CTNNB1 gene are found in almost all pilomatricomas, a type of benign skin tumor associated with hair follicles. The CTNNB1 gene mutations found in pilomatricomas are described as gain-of-function mutations. They cause the beta-catenin protein to be turned on all the time (constitutively active), which leads to the abnormal activation of certain genes. These genes increase the proliferation and differentiation of cells associated with the hair follicle matrix. The cells divide too quickly and in an uncontrolled way, leading to the formation of a pilomatricoma. Almost all pilomatricomas are benign, but a very small percentage are cancerous (malignant). The malignant version of this tumor is known as a pilomatrix carcinoma. Like pilomatricomas, pilomatrix carcinomas have somatic mutations in the CTNNB1 gene. It is unclear why some of these tumors are cancerous but most others are not. other cancers Somatic mutations in the CTNNB1 gene have been identified in several other types of cancer. These include colorectal, liver, thyroid, ovarian, endometrial, and skin cancers, as well as a type of brain tumor called a medulloblastoma, among others. Studies suggest that gain-of-function mutations in the CTNNB1 gene prevent the breakdown of beta-catenin when it is no longer needed, which allows the protein to accumulate within cells. The excess beta-catenin moves into the nucleus and promotes the unchecked growth and division of cells, allowing cancerous tumors to develop. Because mutations in the CTNNB1 gene can cause normal cells to become cancerous, CTNNB1 belongs to a class of genes known as oncogenes. Sometimes, mutations in other oncogenes occur together with CTNNB1 gene mutations to cause cancer. It is not well understood why mutations in the CTNNB1 gene are associated with several different types of cancerous and noncancerous tumors.

     The CTNNB1 gene provides instructions for making a protein called beta-catenin. This protein is present in many types of cells and tissues, where it is primarily found at junctions that connect neighboring cells (adherens junctions). Beta-catenin plays an important role in sticking cells together (cell adhesion) and in communication between cells. The beta-catenin protein is also involved in cell signaling as an essential part of the WNT signaling pathway. Certain proteins in this pathway attach (bind) to beta-catenin, which triggers a multi-step process that allows the protein to move into the nucleus. Once in the nucleus, beta-catenin interacts with other proteins to control the activity (expression) of particular genes. The WNT signaling pathway promotes the growth and division (proliferation) of cells and helps determine the specialized functions a cell will have (differentiation). WNT signaling is known to be involved in many aspects of development before birth. In adult tissues, this pathway plays a role in the maintenance and renewal of stem cells, which are cells that help repair tissue damage and can give rise to other types of cells. Among its many activities, beta-catenin appears to play an important role in the normal function of hair follicles, which are specialized structures in the skin where hair growth occurs. This protein is active in cells that make up a part of the hair follicle known as the matrix. These cells divide and mature to form the different components of the hair follicle and the hair shaft. As matrix cells divide, the hair shaft is pushed upward and extends beyond the skin.

The following transcription factors affect gene expression:

• HNF-4alpha1
• HNF-4alpha2
• GR
• GR-alpha
• GR-beta
• p53
• p300
• Sox9

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).

Molecular Function:

• Rna Polymerase Ii Transcription Factor Binding
• Rna Polymerase Ii Activating Transcription Factor Binding
• Double-Stranded Dna Binding
• Transcription Factor Activity, Sequence-Specific Dna Binding
• Transcription Coactivator Activity
• Signal Transducer Activity
• Protein C-Terminus Binding
• Transcription Factor Binding
• Enzyme Binding
• Kinase Binding
• Protein Phosphatase Binding
• Estrogen Receptor Binding
• Nuclear Hormone Receptor Binding
• Transcription Regulatory Region Dna Binding
• Ion Channel Binding
• Alpha-Catenin Binding
• Cadherin Binding
• Smad Binding
• Androgen Receptor Binding
• I-Smad Binding
• Cadherin Binding Involved In Cell-Cell Adhesion
• Euchromatin Binding

Biological Processes:

• Negative Regulation Of Transcription From Rna Polymerase Ii Promoter
• 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
• Liver 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
• Transcription, Dna-Templated
• Cell Adhesion
• Cell-Matrix Adhesion
• Wnt Signaling Pathway, Calcium Modulating Pathway
• Chemical Synaptic Transmission
• Ectoderm Development
• Glial Cell Fate Determination
• Midgut Development
• Negative Regulation Of Cell 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
• Schwann Cell Proliferation
• Wnt Signaling Pathway
• Single Organismal Cell-Cell Adhesion
• 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
• Response To Cytokine
• Adherens Junction Assembly
• Protein Localization To Cell Surface
• Embryonic Heart Tube Development
• Genitalia Morphogenesis
• Embryonic Forelimb Morphogenesis
• Embryonic Hindlimb Morphogenesis
• Hair Cell Differentiation
• Catenin Import Into Nucleus
• Embryonic Skeletal Limb Joint Morphogenesis
• Regulation Of T Cell Proliferation
• Odontogenesis Of Dentin-Containing Tooth
• Embryonic Digit Morphogenesis
• Positive Regulation Of Apoptotic Process
• Positive Regulation Of I-Kappab Kinase/Nf-Kappab Signaling
• Proteasome-Mediated Ubiquitin-Dependent Protein Catabolic Process
• Positive Regulation Of Mapk Cascade
• Positive Regulation Of Neuron Apoptotic Process
• Response To Estrogen
• Canonical Wnt Signaling Pathway Involved In Positive Regulation Of Epithelial To Mesenchymal Transition
• Canonical Wnt Signaling Pathway Involved In Negative Regulation Of Apoptotic Process
• Cellular Response To Fibroblast Growth Factor Stimulus
• Myoblast Differentiation
• 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 From Rna Polymerase Ii Promoter
• Negative Regulation Of Mitotic Cell Cycle, Embryonic
• Response To Cadmium Ion
• 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
• Embryonic Cranial Skeleton Morphogenesis
• Negative Regulation Of Oligodendrocyte Differentiation
• Regulation Of Neurogenesis
• Synapse Organization
• Positive Regulation Of Sequence-Specific Dna Binding Transcription Factor Activity
• Smooth Muscle Cell Differentiation
• Positive Regulation Of Muscle Cell Differentiation
• Protein Heterooligomerization
• Positive Regulation Of Histone H3-K4 Methylation
• 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
• 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 Mechanical Stimulus
• Cellular Response To Lithium Ion
• 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
• Negative Regulation Of Neuron Death
• Positive Regulation Of Chromatin-Mediated Maintenance Of Transcription
• Regulation Of Euchromatin Binding
• 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
• Cellular Response To Insulin-Like Growth Factor Stimulus
• 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

Drug Bank:

• Urea