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FLASH GENE

Symbol

TWIST2

contributors: mct - updated : 21-08-2015

HGNC name	twist homolog 2 (Drosophila)
HGNC id	20670

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	39.22 kb     2 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_057179 2 - 1186 NP_476527 18.1 160 - - 11062344 NM_001271893 2 - 1434 NP_001258822 - 160 - 2000 11062344

EXPRESSION

Type

expressed in	(based on citations)
organ(s)

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone subchondral     Muscular striatum skeletal     Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet cell (alpha,beta...) Skeleton osteoblast

cell lineage	ectodermally derived cell lineages and in a subset of mesenchymal cell lineages, DRES49
cell lines	osteoblast cell lines
fluid/secretion

at STAGE

physiological period

embryo

Text	mesodermally derived tissues

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	helix-loop-helix DNA-binding domain
	C-terminal domain is responsible for proper transactivation of the periostin gene

HOMOLOGY

interspecies

ortholog to murine dermo-1

intraspecies	homolog to EST,DRES49
	paralog to TWIST

Homologene

FAMILY

bHLH transcription factors family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus

basic FUNCTION	maintaining cells in an osteoprogenitor or preosteoblast-like state and preventing premature or ectopic osteoblast differentiation
	role of TWIST2 in silencing TP53 function in several malignancies
	repressing MYOD1 transactivation via the HLH domain, MEF2 interaction and chromatin deacetylation
	key negative regulator of myeloid lineage development
	critical role in regulating the development of myeloid lineages, as well as the function and inflammatory responses of mature myeloid cells
	potential mediator of mesenchymal stromal/stem cells self-renewal and lineage commitment in postnatal skeletal tissues by exerting their effects on genes involved in the early stages of bone development
	regulates CD7 expression and galectin-1-induced apoptosis in mature T-cells
	critical for normal mesenchymal proliferation and differentiation
	potentially required for normal corneal keratocyte proliferation and eyelid morphogenesis
	potential involvement in the regulation of osteoblastogenesis by HB-EGF-EGFR signaling
	regulates early limb morphogenesis through a role in terminating the SHH/GREM1/FGF autoregulatory loop
	TWIST1 and TWIST2 regulate osteocalcin transcription in part through the interaction of the C-terminal "box" domain in these factors and RUNX2
	is a key regulator of survival, invasion and anchorage-independent growth in the aneuploid cells
	augments liver cancer stem-like cell self-renewal in a CD24-dependent manner
	TWIST1 and TWIST2 regulate glycogen storage and inflammatory genes in skeletal muscle
	basic helix-loop-helix transcription factor that regulates the development of mesenchymal tissues

CELLULAR PROCESS	nucleotide, transcription
	cell organization/biogenesis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	with MEF2 and MYOD1(repression of MEF2 transactivation domain)
	RUNX2 inhibitor
	potential transactivator of periostin (POSTN)
	TWIST1, TWIST2 are novel inhibitory binding partners of ATF4
	TWIST2 regulates early limb morphogenesis through a role in terminating the SHH/GREM1/FGF autoregulatory loop
	TWIST2 directly regulated CDKN1A in human hematopoietic cells and whose silence promoted cell proliferation and cell cycle progression, this direct regulation of CDKN1A by TWIST2 has a role in its tumor-suppressor function in AML (acute myeloid leukemia)
	TWIST1 and TWIST2 were required for optimal cytokine downregulation during acute and, particularly, chronic NOD2 stimulation of human macrophages

cell & other

REGULATION

induced by

FGF2 in osteoblast cell lines

ASSOCIATED DISORDERS

corresponding disease(s)

FFDD3 , FFDD2 , BBRSAY , ABPMS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       gain of function increases the resistance to galectin-1-mediated-apoptosis, which may have significant implications for the progression of some T-cells into tumors such as Sezary cells tumoral     --over   may contribute to breast cancer progression by activating the EMT programme and enhancing the self-renewal of cancer stem-like cells (

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer digestive liver identification of the TWIST2-CD24 signaling pathway provides a potential therapeutic approach to target cancer stem cells in HCCs

ANIMAL & CELL MODELS

Adult Twist2-null mice display enophthalmia and blepharophimosis