Database for Annotation, Visualization and Integrated Discovery 2.1
National Institute of Allergy and Infectious Disease
The Database for Annotation, Visualization and Integrated Discovery
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DAVID Functional Annotation Table
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twist family bHLH transcription factor 2(TWIST2) twist family bHLH transcription factor 2(TWIST2) Related Genes Homo sapiens
CHROMOSOME 2,
CYTOBAND 2q37.3,
ENSEMBL_GENE_ID ENSG00000233608,
ENTREZ_GENE_ID 117581,
GENERIF_SUMMARY Epigenetic silencing of TWIST2 in mutated Ig V(H)is associated with chronic lymphocytic leukemia, findings suggest that reduced expression of TWIST suppresses the multistep process of peritoneal dissemination (detachment from the primary lesion, adhesion to MCs and invasion of MCs)., Twist proteins promote malignant conversion and metastatic dissemination., hypoxic TWIST1 induction is regulated by both HIF-1 and HIF-2 proteins through distinct regulatory elements in a tissue-specific manner, increased expression in T-cell is associated with resistance to apoptosis and tumor progression, TWIST2 recessive mutations cause an focal facial dermal dysplasias and dominant TWIST1 mutations cause Saethre-Chotzen craniocynostosis suggests that they function independently in skin and bone development., Our data implicate dermo1 as a tumor suppressor gene and a valuable molecular marker for human cancer, overexpression of HIF-1alpha, TWIST2 or SNIP1 correlated with poor disease-free survival in patients with tongue squamous cell carcinoma, overexpression of Twist2 may contribute to breast cancer progression by activating the epithelial to mesenchymal transition programme and enhancing the self-renewal of cancer stem-like cells., Study correlates reduced TWIST2 and OPG expression with increased osteocalcin levels, thereby linking altered bone remodeling to energy homeostasis in hereditary HGPS., these data suggest that the C-terminal domain of TWIST2, which is missing in the Q119X mutant form of TWIST2, is responsible for proper transactivation of the periostin gene., Twist1 and Twist2 modulate ATF4-dependent transcriptional activity in response to Parathyroid hormone., Mexican-Nahua sibs with facial and ophthalmologic features of FFDD type III were evaluated. Genomic DNAs were isolated for sequencing of the TWIST2 gene. The affected sibs were homozygous for a novel TWIST2 frameshift mutation, c.168delC (p.S57AfsX45)., TWIST2 overexpression was linked to cervix cancer progression, which makes it a promising marker for determining the metastatic potential., This study suggests a dual role for epigenetic inactivation of TWIST2 in acute lymphoblastic leukemia, initially through altering cell growth and survival properties and subsequently by increasing resistance to chemotherapy., Elevated expression of TWIST2 can contribute to invasion and metastasis of adenoid cystic carcinoma (ACC), and there might be some correlation between the hypoxia microenvironment and epithelial-mesenchymal transition in ACC., upregulation of TWIST2, correlated with poor differentiation grade and shorter survival and identifies a subset of node-positive oral cavity/pharynx cancer patients with very poor prognosis, heterogeneous expression of Twist2 in breast tumors may have a functional link to tumor progression, Data indicate that the expression of Twist2 and Runx2 differs significantly in mesenchymal stromal cells from bone marrow (bmMSC) compared to MSC from term placenta (pMSC)., These data highlight a pivotal role for miR-138 in the regulation of colorectal cancer metastasis by targeting TWIST2., identification of the Twist2-CD24 signaling pathway provides a potential therapeutic approach to target cancer stem cells in HCCs, nuclear beta-catenin is accumulated in Twist2-induced EMT cells to facilitates ovarian cancer invasion and metastasis., Twist2 is the key Twist isoform coupling aberrant signals from pithelial-mesenchymal transition (EMT) to senescence and is an important candidate biomarker for cervical cancer prognosis., LPS promotes PDCD4 degradation via a pathway involving PI3K and mTOR, releasing Twist2, which induces IL-10 via c-Maf., Data have identified a novel TWIST2-p21 axis that regulates the cell cycle of both normal and leukemic hematopoietic cells, which implicates TWIST2 as a novel tumor suppressor in human acute myeloid leukemia., A homozygous missense mutation in the TWIST2 gene was described in 3 siblings affected by Setleis syndrome. An alteration of bHLH domain, and loss of transcription factor's function was predicted due to protein substitution., Results show that Twist2 expression was gradually increased during the progression from normal cervical squamous epithelium to cervical intraepithelial neoplasia (CIN) and cervical squamous cell carcinoma., Data suggest that TWIST1 and to a lesser degree TWIST2 expressed within the tumor stroma could contribute to the epithelial-mesenchymal transition (EMT)-like tumor budding phenotype in colorectal cancers., Twist2 plays roles in osteogenesis differentiation, tumor formation and epithelial-mesenchymal transition.[review], TWIST1 and TWIST2 are expressed in skeletal muscle and remained unaltered in metabolic diseases., In patients with no duplication/triplication of the 1p36.22p36.21 region and no mutations in TWIST2, there are mutation(s) in one of the 30 genes in this region or mutations in other as yet unidentified genes at different locations, MACC1 promotes vasculogenic mimicry in gastric cancer by regulating the HGF/c-Met-TWIST1/2 signaling pathway., After chronic NOD2 stimulation, Twist1 and Twist2 coordinate the regulation of both transcriptional activators and repressors, thereby mediating optimal cytokine down-regulation., A substituted lysine at TWIST2 residue 75 results in Ablepharon Macrostomia Syndrome, whereas a glutamine or alanine yields Barber-Say Syndrome., TWIST2 regulates epithelial-mesenchymal transition by depriving the epithelial cell phenotype of E-cadherin and endowing the mesenchymal cell phenotype with Vimentin, which may be involved in the progression and prognosis of ovarian cancer.,
OMIM_DISEASE Ablepharon-macrostomia syndrome, Barber-Say syndrome, Focal facial dermal dysplasia 3, Setleis type,
SP_COMMENT function:Binds to the E-box consensus sequence 5'-CANNTG-3' as a heterodimer and inhibits transcriptional activation by MYOD1, MYOG, MEF2A and MEF2C. Also represses expression of proinflammatory cytokines such as TNFA and IL1B. Involved in postnatal glycogen storage and energy metabolism (By similarity). Inhibits the premature or ectopic differentiation of preosteoblast cells during osteogenesis, possibly by changing the internal signal transduction response of osteoblasts to external growth factors., similarity:Contains 1 basic helix-loop-helix (bHLH) domain., subcellular location:Mainly nuclear during embryonic development. Cytoplasmic in adult tissues., subunit:Efficient DNA binding requires dimerization with another bHLH protein. Forms a heterodimer with TCF3/E12. Also interacts with MEF2C., tissue specificity:In the embryo, highly expressed in chondrogenic cells. In embryonic skin, expressed in the undifferentiated mesenchymal layer beneath the epidermis which later develops into the dermis. Expressed in early myeloid cells but not in lymphoid cells in the liver. Expression also detected in the secretory ependymal epithelium of the choroid plexus primordium. In the adult, expressed in secreting glandular tissues and tubules.,