background:
Twist2 (Twist homolog 2) is a basic helix-loop-helix (bHLH) transcription factor which acts as a transcriptional repressor. It binds to the E-box consensus sequence 5'-CANNTG-3' and inhibits transcriptional activation by MYOD1, MYOG, MEF2A and MEF2C. Efficient DNA binding requires dimerization with another bHLH protein. Twist2 inhibits the premature or ectopic differentiation of preosteoblast cells during osteogenesis.
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.
Subunit:
Efficient DNA binding requires dimerization with another bHLH protein. Forms a heterodimer with TCF3/E12. Also interacts with MEF2C (By similarity).
Subcellular Location:
Nucleus. Cytoplasm. Note=Mainly nuclear during embryonic development. Cytoplasmic in adult tissues.
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.
DISEASE:
Focal facial dermal dysplasia 3, Setleis type (FFDD3) [MIM:227260]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Contains 1 basic helix-loop-helix (bHLH) domain.
Database links:
Entrez Gene: 117581 Human
Entrez Gene: 13345 Mouse
Entrez Gene: 59327 Rat
Omim: 607556 Human
SwissProt: Q8WVJ9 Human
SwissProt: Q9D030 Mouse
SwissProt: P97831 Rat
Unigene: 422585 Human
Unigene: 9474 Mouse
Unigene: 16279 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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