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InnateDB Protein
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IDBP-389545.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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TWIST2
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Protein Name
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twist homolog 2 (Drosophila)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000405176
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InnateDB Gene
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IDBG-310754 (TWIST2)
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Protein Structure
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| 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. {ECO:0000250, ECO:0000269PubMed:11062344}.
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| Subcellular Localization |
Nucleus {ECO:0000255PROSITE- ProRule:PRU00981, ECO:0000269PubMed:11062344}. Cytoplasm {ECO:0000269PubMed:11062344}. Note=Mainly nuclear during embryonic development. Cytoplasmic in adult tissues.
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| Disease Associations |
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. {ECO:0000269PubMed:20691403}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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| 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. {ECO:0000269PubMed:11062344}.
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| Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
| Experimentally validated |
| Total |
5
[view]
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| Protein-Protein |
5
[view]
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| Protein-DNA |
0
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| Protein-RNA |
0
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| DNA-DNA |
0
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| RNA-RNA |
0
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| DNA-RNA |
0
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| Predicted by orthology |
| Total |
1 [view]
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Molecular Function |
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| Biological Process |
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GO:0045668
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negative regulation of osteoblast differentiation
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GO:0045892
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negative regulation of transcription, DNA-templated
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| Cellular Component |
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| PDB ID |
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| InterPro |
IPR011598
Myc-type, basic helix-loop-helix (bHLH) domain
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| PFAM |
PF00010
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| PRINTS |
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| PIRSF |
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| SMART |
SM00353
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| TIGRFAMs |
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| Modification |
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| SwissProt |
Q8WVJ9
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| PhosphoSite |
PhosphoSite-Q8WVJ9
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| TrEMBL |
A0A024R4D4
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| UniProt Splice Variant |
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| Entrez Gene |
117581
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| UniGene |
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| RefSeq |
NP_476527
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| HUGO |
HGNC:20670
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| OMIM |
607556
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| CCDS |
CCDS46558
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| HPRD |
09616
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| IMGT |
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| EMBL |
BC017907
BC033168
BC103755
CH471063
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| GenPept |
AAH17907
AAH33168
AAI03756
EAW71163
EAW71164
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Version 5.4