TWIST2

Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and differentiation. The protein encoded by this gene is a bHLH transcription factor and shares similarity with another bHLH transcription factor, Twist. It is thought that during osteoblast development this protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype. [provided by RefSeq]

Full Name

twist homolog 2 (Drosophila)

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 pro-inflammatory 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.

Biological Process

Biological Process cell differentiation Source:UniProtKB-KW
Biological Process developmental process Source:GO_Central1 Publication
Biological Process negative regulation of apoptotic process Source:Ensembl
Biological Process negative regulation of DNA-templated transcription Source:UniProtKB
Biological Process negative regulation of osteoblast differentiation Source:UniProtKB1 Publication
Biological Process positive regulation of cell migration Source:BHF-UCL1 Publication
Biological Process regulation of transcription by RNA polymerase II Source:GO_Central1 Publication
Biological Process response to insulin Source:Ensembl
Biological Process response to organic cyclic compound Source:Ensembl

Cellular Location

Nucleus
Cytoplasm
Mainly nuclear during embryonic development. Cytoplasmic in adult tissues.

Involvement in disease

Focal facial dermal dysplasia 3, Setleis type (FFDD3):
A form of focal facial dermal dysplasia, a group of developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFDD3 is characterized by distinctive bitemporal scar-like depressions resembling forceps marks, and additional facial features, including a coarse and leonine appearance, absent eyelashes on both lids or multiple rows on the upper lids, absent Meibomian glands, slanted eyebrows, chin clefting, and hypo- or hyperpigmentation of the skin. Histologically, the bitemporal lesion is an ectodermal dysplasia with near absence of subcutaneous fat, suggesting insufficient migration of neural crest cells into the frontonasal process and the first branchial arch.
Ablepharon-macrostomia syndrome (AMS):
A congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth.
Barber-Say syndrome (BBRSAY):
A rare ectodermal dysplasia characterized by ectropion, macrostomia, ear abnormalities, broad nasal bridge, bulbous nose, redundant skin, hypertrichosis, dental abnormalities, and variable other features.