Recombinant Human Twist-related protein 2 (TWIST2)

Uniprot Id

Q8WVJ9

Target Species

Human

Target Name

TWIST2

Target Full Name

Twist-related protein 2

Target 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. 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.

Target Involvement

Focal facial dermal dysplasia 3, Setleis type (FFDD3); Ablepharon-macrostomia syndrome (AMS); Barber-Say syndrome (BBRSAY)

Target Subcellular Location

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

Target 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 liv

Target Synonyms

bHLHa39; Class A basic helix-loop-helix protein 39; Dermis expressed protein 1; Dermis-expressed protein 1; DERMO 1; Dermo-1; DERMO1; MGC117334; Twist 2; Twist homolog 2 (Drosophila); Twist homolog 2; Twist related bHLH protein Dermo1; Twist related protein 2; Twist-related protein 2; Twist2; TWST2_HUMAN

Target Background

The protein encoded by this gene is a basic helix-loop-helix type transcription factor and shares similarity with Twist. This protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype during osteoblast development. This gene may be upregulated in certain cancers. Mutations in this gene cause focal facial dermal dysplasia 3, Setleis type. Two transcript variants encoding the same protein have been found.