twist family bHLH transcription factor 2
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalEctodermal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalClefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDifferences in sex development
BOTH monoallelic and biallelic, autosomal or pseudoautosomalRare syndromic craniosynostosis or isolated multisuture synostosis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownSkeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedBarber-Say syndrome
focal facial dermal dysplasia type III
ablepharon macrostomia syndrome
androgenetic alopecia
focal facial dermal dysplasia type II
hereditary disease
hair color
chronic obstructive pulmonary disease
focal facial dermal dysplasia
skin aging
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Twist-related protein 2
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
Curated MONDO disease pages that list TWIST2 among their top associated genes.
TWIST2 · Q8WVJ9
Mean pLDDT
73.0/ 100
Confident
160 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
