TWIST2
entrez
117581
canonical
uniprot
Q8WVJ9
canonical
ensembl
ENSG00000233608
resolver
ensembl
ENSG00000288335
resolver
ensp
ENSP00000405176
resolver
ensp
ENSP00000482581
resolver
ensp
ENSP00000500440
resolver
ensp
ENSP00000500609
resolver
ensp
ENSP00000518373
resolver
ensp
ENSP00000518374
resolver
ensp
ENSP00000605993
resolver
ensp
ENSP00000611674
resolver
enst
ENST00000448943
resolver
enst
ENST00000612363
resolver
enst
ENST00000671947
resolver
enst
ENST00000673387
resolver
enst
ENST00000710607
resolver
enst
ENST00000710608
resolver
enst
ENST00000935934
resolver
enst
ENST00000941615
resolver
genesymbol
TWIST2
resolver
genesymbol_syn
BHLHA39
resolver
genesymbol_syn
DERMO1
resolver
hgnc
HGNC:20670
resolver
uniprot
Q3SYL6
resolver
uniprot_entry
TWST2_HUMAN
resolver
uniprot_sec
Q3SYL6
resolver
amino_acid_sequence
MEEGSSSPVSPVDSLGTSEEELERQPKRFGRKRRYSKKSSEDGSPTPGKRGKKGSPSAQSFEELQSQRILANVRERQRTQSLNEAFAALRKIIPTLPSDKLSKIQTLKLAARYIDFLYQVLQSDEMDNKMTSCSYVAHERLSYAFSVWRMEGAWSMSASH
uniprot
proteins
disease_involvement
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. {ECO:0000269|PubMed:20691403, ECO:0000269|PubMed:25410422}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Ablepharon-macrostomia syndrome (AMS) [MIM:200110]: 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. {ECO:0000269|PubMed:26119818}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Barber-Say syndrome (BBRSAY) [MIM:209885]: A rare ectodermal dysplasia characterized by ectropion, macrostomia, ear abnormalities, broad nasal bridge, bulbous nose, redundant skin, hypertrichosis, dental abnormalities, and variable other features. {ECO:0000269|PubMed:26119818}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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. {ECO:0000250, ECO:0000269|PubMed:11062344}.
uniprot
proteins
mass_dalton
18124
uniprot
proteins
pubmed
11062344
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20691403
uniprot
proteins
pubmed
25410422
uniprot
proteins
pubmed
26119818
uniprot
proteins
sequence_length
160
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981, ECO:0000269|PubMed:11062344}. Cytoplasm {ECO:0000269|PubMed:11062344}. Note=Mainly nuclear during embryonic development. Cytoplasmic in adult tissues.
uniprot
proteins