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TWIST2 (twist family BHLH transcription factor 2)

Written2014-06Daniela Gasparotto, Erica Lorenzetto
Experimental Oncology 1, (CRO) National Cancer Institute, Aviano 33081, Italy

(Note : for Links provided by Atlas : click)

Identity

Alias_namestwist homolog 2 (Drosophila)
twist basic helix-loop-helix transcription factor 2
Alias_symbol (synonym)DERMO1
Dermo-1
bHLHa39
Other aliasFFDD3
SETLSS
HGNC (Hugo) TWIST2
LocusID (NCBI) 117581
Atlas_Id 43639
Location 2q37.3  [Link to chromosome band 2q37]
Location_base_pair Starts at 238848032 and ends at 238910548 bp from pter ( according to hg19-Feb_2009)  [Mapping TWIST2.png]
 
Note The gene maps on the long arm of Chromosome 2 at position q37.3 (Perrin-Schmitt et al., 1997).

DNA/RNA

Description This gene is localized at chromosome 2q37.3 (Perrin-Schmitt et al., 1997) and has 2 exons (Šošic et al., 2003).
Transcription TWIST2 DNA sequence contains 2 exons separated by a large intron, with the entire coding region located in exon 1 (Šošic et al., 2003). Two transcript variants encoding the same protein have been described: variant 1 of 1434 bp and variant 2 of 1186 bp. Both variants encode a same protein but have different 3' UTR ( NCBI).
Pseudogene No pseudogene of TWIST2 is known.

Protein

 
  Structure of TWIST2 protein. The protein domains and their length (indicated by number of limiting residues) are reported. TWIST2 contains 2 nuclear localization signals, a basic helix loop helix (bHLH) domain and a TWIST box domain (Modified from Gong and Li, 2002).
Description The TWIST2 gene encodes a 160 aminoacid protein with a predicted molecular weight of 19 kDa (Li et al., 1995; Lee et al., 2000; Gong and Li, 2002).
TWIST2 structure includes 2 nuclear localization signals at the N-terminus (aa 31-34, aa 49-53), a basic helix-loop-helix (bHLH) domain (aa 66-117) and a C-terminal TWIST box region (aa 141-160) (Gong and Li, 2002).
Post transcriptional phosphorylation at Ser55 is predicted for both human and rodent protein ( phosphosite). The bHLH domain includes highly conserved Thr and Ser residues whose posphorylation has been demonstrated to affect dimer formation and DNA binding affinity in other TWIST family members (Firulli et al., 2005; Firulli and Conway, 2008).
Expression TWIST2 is involved in mesodermal patterning and in differentiation of multiple cell lineages including muscle, cartilage, osteogenic, adipogenic and myeloid cells (Lee et al., 2000; Gong and Li, 2002; Lee et al., 2003; Sharabi et al., 2008). In human embryonic tissues TWIST2 protein is detectable in early chondroblast cells in cartilage plate and surrounding mesenchymal cells, especially near the tip of the digits (Lee et al., 2000). In the skin, it is expressed early in the undifferentiated mesenchymal layer beneath the epidermis that will develop into dermis (Lee et al., 2000). TWIST2 is expressed in myeloid progenitors (Sharabi et al., 2008). In adult tissues, TWIST2 is expressed in the bone marrow (Ishikawa et al., 2013). A low level of expression has been reported in glands and tubules (Lee et al., 2000) as well as liver, muscle, pancreas, and adipose tissue (Pettersson et al., 2010). It should be pointed out that many antibodies used to detect the expression of TWIST proteins recognize both members of the family, making it hard to actually assess the specific contribution of each protein.
Localisation Nuclear in embryonic tissues, predominantly cytoplasmic in adult tissues (Lee et al., 2000).
Function TWIST2 is a transcription factor belonging to the bHLH (basic helix loop helix) family (Li et al., 1995; Lee et al., 2000). bHLH proteins form homo- or heterodimers with other bHLH family members and, as dimers, bind DNA through the bHLH domain at cis regulatory motifs, termed E-box (CANNTG), leading to either activation or inhibition of transcription (Murre et al., 1989; Franco et al., 2011b). The specificity of the dimers depends on several factors: partner choice, phosphorylation, other protein-protein interactions and spatial-temporal expression (Murre et al., 1989; Franco et al., 2011b). The partner choice depends mainly on the availability and on the phosphorylation status of the partner (Firulli and Conway, 2008).
TWIST2, similar to TWIST1, may also control gene expression by epigenetic modulation of the promoter: TWIST1-2 interacts with and recruits histone acetyl transferases/histone deacetylases to the promoter regulatory region, resulting in transcriptional repression through histone modification (Hamamori et al., 1999; Gong and Li, 2002; Lee et al., 2003).
Role in embryonic development
Murine Twist2 was identified through yeast-two-hybrid screen (Staudinger et al., 1993) and it was named Dermo1 for its expression pattern in the dermis of mouse embryo (Li et al., 1995). Dermo1 was later renamed Twist2 (Šošic et al., 2003) based on its high homology and overlapping expression pattern with Twist1 (Li et al., 1995; Lee et al., 2000; ŠoŠic et al., 2003). During mouse embryogenesis Twist2 displays a spatial expression pattern similar to Twist1, but temporally delayed (Li et al., 1995; Lee et al., 2000). Twist2 is expressed at a lower level in the sclerotome and dermatome of the somites, and in the limb buds at Day 10.5, and accumulates predominantly in the dermatome, prevertebrae, and the derivatives of the branchial arches by Day 13.5 (Li et al., 1995). As differentiation of prechondrial cells proceeds, Twist2 becomes restricted to the perichondrium (Li et al., 1995). In the dermis, expression increases continuously through Day 17.5, is detectable in newborns but is then downregulated in adult tissues (Li et al., 1995). An analogous role has been reported for Twist2 in avian limb outgrowth and patterning (Wade et al., 2012) as well as skin development (Scaal et al., 2001).
TWIST2 plays an important role in early bone development, acting as a negative regulator of osteoblast differentiation. Indeed, TWIST2 represses osteoblast maturation maintaining cells in a preosteoblast phenotype (Tamura and Noda, 1999; Lee et al., 2000) and it inhibits bone specific gene expression (Zhang et al., 2008). TWIST2 is involved in the modulation of the activity of Runx2, a master regulator of osteogenic program, both at the transcriptional level and at the protein level (Bialek et al., 2004; Zhang et al., 2008). By interacting with Runx2, TWIST2 inhibits the expression of Runx2 downstream targets, thus blocking the osteogenesis program (Lee et al., 2003). Runx2 can be downregulated by ERK, therefore ERK cooperates with TWIST2 in the inhibition of osteoblast differentiation (Nakamura et al., 2010). Insulin receptor signaling also controls osteoblast development by suppressing TWIST2 (Fulzele et al., 2010; Ulrich et al., 2013). In osteoblast TWIST2 physically interacts with ATF4 affecting its DNA binding function (Danciu et al., 2012). During cranial cell development TWIST2 is a mediator of Wnt signaling in specifying dermal cell fate and suppressing the cartilage cell fate (Tran et al., 2010).
TWIST2 is furthermore involved in the inhibition of muscle differentiation program acting as a transcriptional repressor of MyoD, the activation of which typically requires the binding of MEF2 (Gong and Li, 2002). TWIST2 needs histone deacetylases (HDAC) to exert Myo-MEF2 inhibition (Gong and Li, 2002). TWIST2 is also a critical regulator of adipose tissue homeostasis acting as a physical inhibitor of the transcription factor ADD1/SREBP1c, involved in adipocyte differentiation (Lee et al., 2003).
TWIST2 is required for normal corneal keratocyte proliferation and eyelid morphogenesis. Loss of TWIST2 leads to corneal thinning, due to early cessation of proliferation of corneal stromal progenitors, resulting in fewer mature stromal keratocytes for the production of the corneal matrix (Weaving et al., 2010).
In myeloid lineage development, TWIST2 inhibits the proliferation and the differentiation of granulocyte macrophage progenitors (Sharabi et al., 2008). TWIST2-null 129/Sv mice undergo almost normal embryonic development but die within the first two weeks after birth due to cachexia and high levels of proinflammatory cytokines (Šošic et al., 2003). However, the phenotype is influenced by genetic background. In fact TWIST2-null mice in the 129/C57 mixed background survive with only a mild disease and facial signs reminiscent of facial dermal dysplasia (Setleis syndrome), the human disease associated with germline TWIST2 inactivating mutations (Tukel et al., 2010).
Role in hematopoiesis and inflammation
TWIST2 is constitutionally expressed in myeloid progenitors where negatively controls myeloid lineage differentiation into macrophages, neutrophils and basophils (Sharabi et al., 2008). TWIST2 regulates the function of mature myeloid cells by promoting the expression of the anti-inflammatory cytokine interleukin-10 and inhibiting the production of pro-inflammatory cytokines interleukin-12 and interferon-γ (Sharabi et al., 2008). TWIST2 expression is also induced by NF-kB, as part of a negative feedback loop in which cytokines activate NF-kB and downstream activation of TWIST2 results in repression of NF-kB activation (Šošic et al., 2003).
In T lymphocytes and in immature thymocytes TWIST2 inhibits galectin-1-induced apoptosis, a process implicated in thymic negative selection (Koh et al., 2008; Koh et al., 2009; Merindol et al., 2014). TWIST2 prevents NF-kB mediated expression of galectin receptor (CD7), therefore inhibiting galectin1/CD7-mediated apoptosis (Koh et al., 2008; Koh et al., 2009; Merindol et al., 2014).
Role in apoptosis and senescence
TWIST2 antagonizes oncogene-induced cell failsafe programs, apoptosis and senescence. In a genetic screen for antiapoptotic proteins, TWIST2 was demonstrated to protect cells from Myc and E1A-induced apoptosis by modulating the ARF/MDM2/p53 pathway (Maestro et al., 1999).
TWIST2 overcomes oncogene-induced premature senescence by abrogating the transcription of p16Ink4A and p21Cip1, key regulators of the p53- and RB-dependent pathways (Ansieau et al., 2008).
Role in oxidative stress
TWIST2 participates in the control of reactive oxygen species (ROS) and in cellular response to oxidative stress. TWIST2 lowers the level of intracellular ROS and displays an antioxidant activity in several cell types. TWIST-driven inhibition of oxidative stress is involved in the protection of cells against c-Myc induced apoptosis (Floc'h et al., 2013).
Role in stemness (cancer stem cells)
TWIST2 mediates mesenchymal stem cell (MSC) self-renewal by maintaining the immature phenotype of human MSC and inhibiting osteogenesis and chondrogenesis (Isenmann et al., 2009). In mouse, the inhibition of MSC differentiation induced by fibroblast growth factor 2 (Fgf2) is strongly correlated with the upregulation of TWIST2 and Spry4 and with the suppression of Erk1/2 activation (Lai et al., 2011). TWIST2-expressing cells exhibit an increased expression of stem cell markers Bmi-1, Sox2, CD24, Nanog and an increased capacity of self-renewal (Liu et al., 2014).
Role in EMT
TWIST2 has been involved in epithelial-mesenchymal transition (EMT), a process by which cells lose epithelial characteristics and acquire a migratory, mesenchymal phenotype. EMT is associated with downregulation of epithelial markers, such as E-cadherin, and induction of mesenchymal markers, such as N-cadherin. EMT has an essential role in embryonic development and in the initial steps of tumor invasion and metastasis. Several bHLH transcription factors are involved in the regulation of EMT. TWIST2 has been implicated in EMT in several experimental models and cancer types (Tsuji et al., 2008; Katoh and Katoh, 2009; Ponnusamy et al., 2010; Fang et al., 2011; Akkari et al., 2012; Amatangelo et al., 2012; Salnikov et al., 2012; Shimoda et al., 2012; Mao et al., 2012; Mao et al., 2013; Teng and Li, 2014; Díaz-Martín et al., 2014). A dynamic interaction between EMT and stemness gene programs has been observed in prostate and bladder cancer cell experimental models (Celià-Terrassa et al., 2012).
 
Homology TWIST genes are evolutionary conserved from jellyfish to human. Duplications and deletions of TWIST genes occurred during vertebrate evolution (Germanguz et al., 2007; Gitelman, 2007).
The human TWIST2 protein shares 98.8% amino acid identity to mouse and rat and 95% to chicken Twist2 (Lee et al., 2000).
Within the bHLH protein family, TWIST2 displays the highest level of sequence similarity with TWIST1. The two proteins are near identical in the C-terminal Helix-Loop-Helix (HLH) and TWIST BOX domains, while they display some divergence in the N-terminal region (Lee et al., 2000; Gong and Li, 2002; Barnes and Firulli, 2009).

Mutations

Germinal TWIST2 nonsense mutations have been associated with Focal Facial Dermal Dyspasia type III (Setleis syndrome), a developmental defect characterized by bitemporal or pre auricolar facial dermal dysplasia (Tukel et al., 2010; Cervantes-Barragán et al., 2011; Franco et al., 2011a; Girisha et al., 2014).
Somatic Missense mutations have been found in endometrial cancer COSMIC

Implicated in

Note
  
Entity Breast cancer
Note TWIST2 overexpression has been implicated in breast cancer. TWIST2 protein was reported to be expressed in 94% of breast cancers and in 100% of nodal metastases. In mammary cell lines TWIST2 ectopic overexpression induced EMT, enhanced cell migration, colony formation, and tumor growth in vivo. TWIST2 induced the expression of stem cell markers thereby increasing the abundance of a CD44high/CD24low subpopulation with stem-like self renewal capacities (Fang et al., 2011).
Mao et al. (2012) observed TWIST2 expression, most frequently in ductal and in squamous cell breast carcinomas. Expression pattern was cytoplasmic in cells localized in tumor centre and in lymph node metastases, while TWIST2 displayed nuclear expression and associated with EMT features (fibroblast-like morphology, E-cadherin loss) in cells at the invasive front. TWIST2 cytoplasmic positive expression was associated with advanced TNM, advanced clinical stage and metastasis (Mao et al., 2012).
  
  
Entity Cervical cancer
Note Li et al. (2012) investigated TWIST2 and E-cadherin protein expression in different stages and grades of cervical dysplasia and squamous cell carcinoma (SCC). All SCCs were positive for cytoplasmic TWIST2 expression, and in 87.1% specimens staining were also nuclear. In contrast, only 7.1% of healthy cervical samples showed weak/moderate cytoplasmic or nuclear positivity. TWIST2 positivity was associated with aberrant E-Cadherin cytoplasmic localization. TWIST2 cytoplasmic expression was associated with significantly increased risk of metastasis (Li et al., 2012).
  
  
Entity Colorectal cancer
Note TWIST2 expression was demonstrated by immunohistochemistry in 71% of colorectal cancers. The pattern of staining was mainly cytoplasmic and was associated with reduced E-cadherin. Positive TWIST2 expression was associated with poor disease-free and overall survival (Yu et al., 2013).
Long et al. (2013) observed decreased expression of mir-138 in colorectal cancers compared to healthy tissues and provided evidence that mir-138 targeted TWIST2. Indeed, overexpression of TWIST2 was inversely correlated with mir-138 and associated with metastasis and poor prognosis (Long et al., 2013).
  
  
Entity Ovarian cancer
Note Mao et al. (2013) reported overexpression of TWIST2 in 16/22 ovarian tumors compared to healthy tissue. The high level of TWIST2 was positively correlated with HIF-1α. In the HO-8910 ovarian cell line, TWIST2 overexpression protected cells from apoptosis under hypoxic condition through activation of the PI3K/AKT survival pathway. In a following study, the same authors confirmed TWIST2 overexpression in 59/84 (70%) ovarian cancers. The pattern of expression was both nuclear and cytoplasmatic, and the fraction of TWIST2-positive cases was increased along with the FIGO stage. In the ovarian cell line SKOV-3 the ectopic expression of TWIST2 induced EMT, β-catenin nuclear accumulation and activation of the Wnt pathway (Mao et al., 2013).
  
  
Entity Head and Neck squamous cell carcinomas (HNSCC)
Note TWIST2 gene expression was increased in 87% esophageal squamous cell carcinomas (Ansieau et al. 2008). In tongue squamous cell carcinomas overexpression of TWIST2 was detected in 45% of tumors and was associated with hypoxia. The concomitant expression of more than two of the markers TWIST2, HIF-1α, and SNIP1 was associated with poor survival (Liang et al., 2011).
In salivary adenoid cystic carcinoma the coexpression of TWIST2, HIF-2α and SIP1 was associated with perineural invasion, local recurrence, distant metastasis and shorter survival (Zhou et al., 2012).
In HNSCCs TWIST2 overexpression was correlated with high tumor grade and short survival in oral cavity/pharynx cancer patients. In these tumors, TWIST2 expression was not associated with EMT markers. Instead, within the N-positive group, identified subset of tumors with high risk of progression (Gasparotto et al., 2011).
  
  
Entity Leukemias
Note In leukemias TWIST2 has oncosuppressive role. Raval et al. (2005) reported epigenetic silencing of TWIST2 in chronic lymphocytic leukemia (CLL), and provided evidence that expression of this transcription factor was related to the degree of promoter methylation. In this study, TWIST2 promoter methylation was more frequent in the IgVH-mutated CLL subset (Raval et al., 2005). In acute lymphoblastic leukemia (ALL) the TWIST2 promoter was hypermethylated in 50% of cases. In ALL cell lines the restoration of TWIST2 expression reduced cell growth, induced apoptosis and increased sensitivity to chemotherapeutic agents (Thathia et al., 2012).
  
  
Entity Hepatocellular carcinomas (HCC)
Note TWIST2 was found to be overexpressed in human HCCs. Ectopic expression of TWIST2 in HCC cell lines induced EMT, augmented cell migration, invasion and colony-forming abilities in vitro and promoted tumor growth in vivo. Moreover, TWIST2 promoted cancer stem-like cell self-renewal via upregulation of CD24 expression (Liu et al., 2014).
TWIST2 was also implicated in the process of oncogenic transformation of primary hepatocytes by Hepatitis C virus (HCV). The viral protein NS5A either alone or in the context of other viral components in the course of infection, acted through TWIST2 activation to disrupt cell polarity, and, in cooperation with Ras, induced cell transformation and metastastatic spread in vivo (Akkari et al., 2012).
  
  
Entity Sarcomas
Note By investigating the role of TWIST in soft tissue sarcomas, Piccinin et al. (2012) demonstrated overexpression of TWIST1 and TWIST2 proteins in 60% and in 7% of tumors, respectively. TWIST1/2 contributed to transformation of primary mesenchymal cells in vitro and to tumor growth in mice by antagonizing p53. By directly interacting with p53, TWIST1/2 hindered p53 phosphorylation at Ser 392, thereby facilitating MDM2-mediated p53 degradation (Piccinin et al., 2012).
In osteosarcoma TWIST2 demonstrated a tumor suppressive role (Ishikawa et al., 2013). In human osteosarcomas TWIST2 mRNA level was downregulated compared with bone marrow stem cells. In a murine model, TWIST2 correlated inversely with tumorigenic potential. The tumor suppressor activity of TWIST2 was correlated with the inhibition of the formation of a microenvironment favourable for tumor growth (Ishikawa et al., 2013).
  
  
Entity Melanomas
Note TWIST2 expression was significantly increased in melanomas (60%) compared to their normal counterparts, as well as in melanoma cell lines (Ansieau et al., 2008).
TWIST1/2 inhibited premature senescence by abrogating p16 INK4A and p21 cip activation and promoted EMT in cooperation with mitogenic signaling activation (Ansieau et al., 2008).
  
  
Entity Focal facial dermal dysplasia type III, or Setleis syndrome
Note Focal facial dermal dysplasia type III, or Setleis syndrome (OMIM entry 607556). The disease was first described in consanguineous patients in Puerto Rican families (Setleis et al., 1963). Patients exhibit bilateral temporal preauricular marks and other facial abnormalities, including absent eyelashes on both lids or multiple rows on the upper lids, slanted eyebrows chin clefting, and other nonfacial manifestations (Tukel et al., 2010, Cervantes-Barragán et al., 2011). The disease is panethnic (Tukel et al., 2010). The mode of inheritance of Setleis syndrome has been reported as autosomal recessive or autosomal dominant with decreased manifestations in heterozygotes (Tukel et al., 2010, Cervantes-Barragán et al., 2011).
  
  
Entity 2q37 deletion syndrome
Note TWIST2 has been proposed as candidate gene of the 2q37 deletion syndrome due to its localization in the smallest deleted chromosome region (Leroy et al., 2013).
Disease Patients exhibit facial dysmorphism and brachydactyly, behavioural problems, autism of varying severity and overweight or obesity (Leroy et al., 2013).
  

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Correlation of TWIST2 up-regulation and epithelial-mesenchymal transition during tumorigenesis and progression of cervical carcinoma.
Li Y, Wang W, Wang W, Yang R, Wang T, Su T, Weng D, Tao T, Li W, Ma D, Wang S.
Gynecol Oncol. 2012 Jan;124(1):112-8. doi: 10.1016/j.ygyno.2011.09.003. Epub 2011 Oct 22.
PMID 22018873
 
Hypoxia-inducible factor-1 alpha, in association with TWIST2 and SNIP1, is a critical prognostic factor in patients with tongue squamous cell carcinoma.
Liang X, Zheng M, Jiang J, Zhu G, Yang J, Tang Y.
Oral Oncol. 2011 Feb;47(2):92-7. doi: 10.1016/j.oraloncology.2010.11.014. Epub 2010 Dec 16.
PMID 21167768
 
Twist2 promotes self-renewal of liver cancer stem-like cells by regulating CD24.
Liu AY, Cai Y, Mao Y, Lin Y, Zheng H, Wu T, Huang Y, Fang X, Lin S, Feng Q, Huang Z, Yang T, Luo Q, Ouyang G.
Carcinogenesis. 2014 Mar;35(3):537-45. doi: 10.1093/carcin/bgt364. Epub 2013 Nov 5.
PMID 24193512
 
Down-regulation of miR-138 promotes colorectal cancer metastasis via directly targeting TWIST2.
Long L, Huang G, Zhu H, Guo Y, Liu Y, Huo J.
J Transl Med. 2013 Oct 30;11:275. doi: 10.1186/1479-5876-11-275.
PMID 24171926
 
Twist is a potential oncogene that inhibits apoptosis.
Maestro R, Dei Tos AP, Hamamori Y, Krasnokutsky S, Sartorelli V, Kedes L, Doglioni C, Beach DH, Hannon GJ.
Genes Dev. 1999 Sep 1;13(17):2207-17.
PMID 10485844
 
The role of nuclear β-catenin accumulation in the Twist2-induced ovarian cancer EMT.
Mao Y, Xu J, Li Z, Zhang N, Yin H, Liu Z.
PLoS One. 2013 Nov 11;8(11):e78200. doi: 10.1371/journal.pone.0078200. eCollection 2013.
PMID 24244294
 
Significance of heterogeneous Twist2 expression in human breast cancers.
Mao Y, Zhang N, Xu J, Ding Z, Zong R, Liu Z.
PLoS One. 2012;7(10):e48178. doi: 10.1371/journal.pone.0048178. Epub 2012 Oct 25.
PMID 23133563
 
The emerging role of Twist proteins in hematopoietic cells and hematological malignancies.
Merindol N, Riquet A, Szablewski V, Eliaou JF, Puisieux A, Bonnefoy N.
Blood Cancer J. 2014 Apr 25;4:e206. doi: 10.1038/bcj.2014.22.
PMID 24769647
 
Interactions between heterologous helix-loop-helix proteins generate complexes that bind specifically to a common DNA sequence.
Murre C, McCaw PS, Vaessin H, Caudy M, Jan LY, Jan YN, Cabrera CV, Buskin JN, Hauschka SD, Lassar AB, et al.
Cell. 1989 Aug 11;58(3):537-44.
PMID 2503252
 
Potential involvement of Twist2 and Erk in the regulation of osteoblastogenesis by HB-EGF-EGFR signaling.
Nakamura T, Toita H, Yoshimoto A, Nishimura D, Takagi T, Ogawa T, Takeya T, Ishida-Kitagawa N.
Cell Struct Funct. 2010;35(1):53-61. Epub 2010 Apr 24.
PMID 20448405
 
The locations of the H-twist and H-dermo-1 genes are distinct on the human genome.
Perrin-Schmitt F, Bolcato-Bellemin AL, Bourgeois P, Stoetzel C, Danse JM.
Biochim Biophys Acta. 1997 Feb 27;1360(1):1-2.
PMID 9061034
 
A possible inflammatory role of twist1 in human white adipocytes.
Pettersson AT, Laurencikiene J, Mejhert N, Naslund E, Bouloumie A, Dahlman I, Arner P, Ryden M.
Diabetes. 2010 Mar;59(3):564-71. doi: 10.2337/db09-0997. Epub 2009 Dec 10.
PMID 20007935
 
A "twist box" code of p53 inactivation: twist box: p53 interaction promotes p53 degradation.
Piccinin S, Tonin E, Sessa S, Demontis S, Rossi S, Pecciarini L, Zanatta L, Pivetta F, Grizzo A, Sonego M, Rosano C, Dei Tos AP, Doglioni C, Maestro R.
Cancer Cell. 2012 Sep 11;22(3):404-15. doi: 10.1016/j.ccr.2012.08.003.
PMID 22975381
 
MUC4 mucin-induced epithelial to mesenchymal transition: a novel mechanism for metastasis of human ovarian cancer cells.
Ponnusamy MP, Lakshmanan I, Jain M, Das S, Chakraborty S, Dey P, Batra SK.
Oncogene. 2010 Oct 21;29(42):5741-54. doi: 10.1038/onc.2010.309. Epub 2010 Aug 9.
PMID 20697346
 
TWIST2 demonstrates differential methylation in immunoglobulin variable heavy chain mutated and unmutated chronic lymphocytic leukemia.
Raval A, Lucas DM, Matkovic JJ, Bennett KL, Liyanarachchi S, Young DC, Rassenti L, Kipps TJ, Grever MR, Byrd JC, Plass C.
J Clin Oncol. 2005 Jun 10;23(17):3877-85. Epub 2005 Apr 4.
PMID 15809452
 
Hypoxia induces EMT in low and highly aggressive pancreatic tumor cells but only cells with cancer stem cell characteristics acquire pronounced migratory potential.
Salnikov AV, Liu L, Platen M, Gladkich J, Salnikova O, Ryschich E, Mattern J, Moldenhauer G, Werner J, Schemmer P, Buchler MW, Herr I.
PLoS One. 2012;7(9):e46391. doi: 10.1371/journal.pone.0046391. Epub 2012 Sep 26.
PMID 23050024
 
cDermo-1 expression indicates a role in avian skin development.
Scaal M, Fuchtbauer EM, Brand-Saberi B.
Anat Embryol (Berl). 2001 Jan;203(1):1-7.
PMID 11195085
 
Congenital ectodermal dysplasia of the face.
Setleis H, Kramer B, Valcarcel M, Einhorn AH.
Pediatrics. 1963 Oct;32:540-8.
PMID 14069095
 
Twist-2 controls myeloid lineage development and function.
Sharabi AB, Aldrich M, Sosic D, Olson EN, Friedman AD, Lee SH, Chen SY.
PLoS Biol. 2008 Dec 16;6(12):e316. doi: 10.1371/journal.pbio.0060316.
PMID 19090621
 
The T-box transcription factor Brachyury regulates epithelial-mesenchymal transition in association with cancer stem-like cells in adenoid cystic carcinoma cells.
Shimoda M, Sugiura T, Imajyo I, Ishii K, Chigita S, Seki K, Kobayashi Y, Shirasuna K.
BMC Cancer. 2012 Aug 29;12:377. doi: 10.1186/1471-2407-12-377.
PMID 22931165
 
Twist regulates cytokine gene expression through a negative feedback loop that represses NF-kappaB activity.
Sosic D, Richardson JA, Yu K, Ornitz DM, Olson EN.
Cell. 2003 Jan 24;112(2):169-80.
PMID 12553906
 
Interactions among vertebrate helix-loop-helix proteins in yeast using the two-hybrid system.
Staudinger J, Perry M, Elledge SJ, Olson EN.
J Biol Chem. 1993 Mar 5;268(7):4608-11.
PMID 8383120
 
Identification of DERMO-1 as a member of helix-loop-helix type transcription factors expressed in osteoblastic cells.
Tamura M, Noda M.
J Cell Biochem. 1999 Feb 1;72(2):167-76.
PMID 10022499
 
The roles of HLH transcription factors in epithelial mesenchymal transition and multiple molecular mechanisms.
Teng Y, Li X.
Clin Exp Metastasis. 2014 Mar;31(3):367-77. doi: 10.1007/s10585-013-9621-6. Epub 2013 Oct 26. (REVIEW)
PMID 24158354
 
Epigenetic inactivation of TWIST2 in acute lymphoblastic leukemia modulates proliferation, cell survival and chemosensitivity.
Thathia SH, Ferguson S, Gautrey HE, van Otterdijk SD, Hili M, Rand V, Moorman AV, Meyer S, Brown R, Strathdee G.
Haematologica. 2012 Mar;97(3):371-8. doi: 10.3324/haematol.2011.049593. Epub 2011 Nov 4.
PMID 22058208
 
Role of canonical Wnt signaling/β-catenin via Dermo1 in cranial dermal cell development.
Tran TH, Jarrell A, Zentner GE, Welsh A, Brownell I, Scacheri PC, Atit R.
Development. 2010 Dec;137(23):3973-84. doi: 10.1242/dev.056473. Epub 2010 Oct 27.
PMID 20980404
 
Epithelial-mesenchymal transition induced by growth suppressor p12CDK2-AP1 promotes tumor cell local invasion but suppresses distant colony growth.
Tsuji T, Ibaragi S, Shima K, Hu MG, Katsurano M, Sasaki A, Hu GF.
Cancer Res. 2008 Dec 15;68(24):10377-86. doi: 10.1158/0008-5472.CAN-08-1444.
PMID 19074907
 
Homozygous nonsense mutations in TWIST2 cause Setleis syndrome.
Tukel T, Sosic D, Al-Gazali LI, Erazo M, Casasnovas J, Franco HL, Richardson JA, Olson EN, Cadilla CL, Desnick RJ.
Am J Hum Genet. 2010 Aug 13;87(2):289-96. doi: 10.1016/j.ajhg.2010.07.009.
PMID 20691403
 
Low osteogenic differentiation potential of placenta-derived mesenchymal stromal cells correlates with low expression of the transcription factors Runx2 and Twist2.
Ulrich C, Rolauffs B, Abele H, Bonin M, Nieselt K, Hart ML, Aicher WK.
Stem Cells Dev. 2013 Nov 1;22(21):2859-72. doi: 10.1089/scd.2012.0693. Epub 2013 Jul 20.
PMID 23763516
 
Twist2 contributes to termination of limb bud outgrowth and patterning through direct regulation of Grem1.
Wade C, Brinas I, Welfare M, Wicking C, Farlie PG.
Dev Biol. 2012 Oct 1;370(1):145-53. doi: 10.1016/j.ydbio.2012.07.025. Epub 2012 Aug 1.
PMID 22884497
 
Twist2: role in corneal stromal keratocyte proliferation and corneal thickness.
Weaving L, Mihelec M, Storen R, Sosic D, Grigg JR, Tam PP, Jamieson RV.
Invest Ophthalmol Vis Sci. 2010 Nov;51(11):5561-70. doi: 10.1167/iovs.09-5123. Epub 2010 Jun 23.
PMID 20574024
 
Twist2 is a valuable prognostic biomarker for colorectal cancer.
Yu H, Jin GZ, Liu K, Dong H, Yu H, Duan JC, Li Z, Dong W, Cong WM, Yang JH.
World J Gastroenterol. 2013 Apr 21;19(15):2404-11. doi: 10.3748/wjg.v19.i15.2404.
PMID 23613636
 
Intricate gene regulatory networks of helix-loop-helix (HLH) proteins support regulation of bone-tissue related genes during osteoblast differentiation.
Zhang Y, Hassan MQ, Li ZY, Stein JL, Lian JB, van Wijnen AJ, Stein GS.
J Cell Biochem. 2008 Oct 1;105(2):487-96. doi: 10.1002/jcb.21844.
PMID 18655182
 
Coexpression of hypoxia-inducible factor-2α, TWIST2, and SIP1 may correlate with invasion and metastasis of salivary adenoid cystic carcinoma.
Zhou C, Liu J, Tang Y, Zhu G, Zheng M, Jiang J, Yang J, Liang X.
J Oral Pathol Med. 2012 May;41(5):424-31. doi: 10.1111/j.1600-0714.2011.01114.x. Epub 2011 Nov 21.
PMID 22103974
 

Citation

This paper should be referenced as such :
D Gasparotto, E Lorenzetto
TWIST2 (twist family BHLH transcription factor 2)
Atlas Genet Cytogenet Oncol Haematol. 2015;19(3):217-224.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/TWIST2ID43639ch2q37.html


External links

Nomenclature
HGNC (Hugo)TWIST2   20670
Cards
AtlasTWIST2ID43639ch2q37
Entrez_Gene (NCBI)TWIST2  117581  twist family bHLH transcription factor 2
AliasesAMS; BBRSAY; DERMO1; FFDD3; 
SETLSS; bHLHa39
GeneCards (Weizmann)TWIST2
Ensembl hg19 (Hinxton)ENSG00000233608 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000233608 [Gene_View]  chr2:238848032-238910548 [Contig_View]  TWIST2 [Vega]
ICGC DataPortalENSG00000233608
TCGA cBioPortalTWIST2
AceView (NCBI)TWIST2
Genatlas (Paris)TWIST2
WikiGenes117581
SOURCE (Princeton)TWIST2
Genetics Home Reference (NIH)TWIST2
Genomic and cartography
GoldenPath hg38 (UCSC)TWIST2  -     chr2:238848032-238910548 +  2q37.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TWIST2  -     2q37.3   [Description]    (hg19-Feb_2009)
EnsemblTWIST2 - 2q37.3 [CytoView hg19]  TWIST2 - 2q37.3 [CytoView hg38]
Mapping of homologs : NCBITWIST2 [Mapview hg19]  TWIST2 [Mapview hg38]
OMIM200110   209885   227260   607556   
Gene and transcription
Genbank (Entrez)AW072674 BC017907 BC033168 BC103755 BU615717
RefSeq transcript (Entrez)NM_001271893 NM_057179
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TWIST2
Cluster EST : UnigeneHs.745035 [ NCBI ]
CGAP (NCI)Hs.745035
Alternative Splicing GalleryENSG00000233608
Gene ExpressionTWIST2 [ NCBI-GEO ]   TWIST2 [ EBI - ARRAY_EXPRESS ]   TWIST2 [ SEEK ]   TWIST2 [ MEM ]
Gene Expression Viewer (FireBrowse)TWIST2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)117581
GTEX Portal (Tissue expression)TWIST2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WVJ9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WVJ9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WVJ9
Splice isoforms : SwissVarQ8WVJ9
PhosPhoSitePlusQ8WVJ9
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)   
Domains : Interpro (EBI)bHLH_dom    Twist-related   
Domain families : Pfam (Sanger)HLH (PF00010)   
Domain families : Pfam (NCBI)pfam00010   
Domain families : Smart (EMBL)HLH (SM00353)  
Conserved Domain (NCBI)TWIST2
DMDM Disease mutations117581
Blocks (Seattle)TWIST2
SuperfamilyQ8WVJ9
Human Protein AtlasENSG00000233608
Peptide AtlasQ8WVJ9
HPRD09616
IPIIPI00103145   
Protein Interaction databases
DIP (DOE-UCLA)Q8WVJ9
IntAct (EBI)Q8WVJ9
FunCoupENSG00000233608
BioGRIDTWIST2
STRING (EMBL)TWIST2
ZODIACTWIST2
Ontologies - Pathways
QuickGOQ8WVJ9
Ontology : AmiGODNA binding  protein binding  nucleus  nucleolus  cytoplasm  transcription, DNA-templated  multicellular organism development  cell differentiation  negative regulation of apoptotic process  negative regulation of osteoblast differentiation  negative regulation of transcription, DNA-templated  protein dimerization activity  
Ontology : EGO-EBIDNA binding  protein binding  nucleus  nucleolus  cytoplasm  transcription, DNA-templated  multicellular organism development  cell differentiation  negative regulation of apoptotic process  negative regulation of osteoblast differentiation  negative regulation of transcription, DNA-templated  protein dimerization activity  
Pathways : KEGGProteoglycans in cancer   
NDEx NetworkTWIST2
Atlas of Cancer Signalling NetworkTWIST2
Wikipedia pathwaysTWIST2
Orthology - Evolution
OrthoDB117581
GeneTree (enSembl)ENSG00000233608
Phylogenetic Trees/Animal Genes : TreeFamTWIST2
HOVERGENQ8WVJ9
HOGENOMQ8WVJ9
Homologs : HomoloGeneTWIST2
Homology/Alignments : Family Browser (UCSC)TWIST2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTWIST2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TWIST2
dbVarTWIST2
ClinVarTWIST2
1000_GenomesTWIST2 
Exome Variant ServerTWIST2
ExAC (Exome Aggregation Consortium)TWIST2 (select the gene name)
Genetic variants : HAPMAP117581
Genomic Variants (DGV)TWIST2 [DGVbeta]
DECIPHERTWIST2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTWIST2 
Mutations
ICGC Data PortalTWIST2 
TCGA Data PortalTWIST2 
Broad Tumor PortalTWIST2
OASIS PortalTWIST2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTWIST2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTWIST2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TWIST2
DgiDB (Drug Gene Interaction Database)TWIST2
DoCM (Curated mutations)TWIST2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TWIST2 (select a term)
intoGenTWIST2
NCG5 (London)TWIST2
Cancer3DTWIST2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM200110    209885    227260    607556   
Orphanet1247    1476    1855   
MedgenTWIST2
Genetic Testing Registry TWIST2
NextProtQ8WVJ9 [Medical]
TSGene117581
GENETestsTWIST2
Target ValidationTWIST2
Huge Navigator TWIST2 [HugePedia]
snp3D : Map Gene to Disease117581
BioCentury BCIQTWIST2
ClinGenTWIST2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD117581
Chemical/Pharm GKB GenePA134973713
Clinical trialTWIST2
Miscellaneous
canSAR (ICR)TWIST2 (select the gene name)
Probes
Litterature
PubMed52 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTWIST2
EVEXTWIST2
GoPubMedTWIST2
iHOPTWIST2
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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