TWIST2 Chromosome 2
Twist family bHLH transcription factor 2
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What This Gene Does
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. [provided by RefSeq, Apr 2014]
Gene Info
Gene Group
Basic helix-loop-helix proteins
Locus Type
gene with protein product
Location
2q37.3
Ensembl
ENSG00000233608
Associated Conditions (4)
Ablepharon macrostomia syndrome
Inborn genetic diseases
Barber-Say syndrome
Focal facial dermal dysplasia type III
Key Variants
RS1553565140
Pathogenic
Ablepharon macrostomia syndrome, Inborn genetic diseases, Barber-Say syndrome
Health Risk
RS1553565143
Pathogenic
Barber-Say syndrome, Barber-Say syndrome
Health Risk
RS1574742341
Pathogenic
Focal facial dermal dysplasia type III, Focal facial dermal dysplasia type III
Health Risk
RS387906973
Pathogenic
Focal facial dermal dysplasia type III, Focal facial dermal dysplasia type III
Health Risk
RS387906974
Pathogenic
Focal facial dermal dysplasia type III, Focal facial dermal dysplasia type III
Health Risk
RS869320750
Pathogenic
Barber-Say syndrome, Barber-Say syndrome
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1553565140 | Health Risk | Pathogenic | Ablepharon macrostomia syndrome, Inborn genetic diseases, Barber-Say syndrome |
| RS1553565143 | Health Risk | Pathogenic | Barber-Say syndrome, Barber-Say syndrome |
| RS1574742341 | Health Risk | Pathogenic | Focal facial dermal dysplasia type III, Focal facial dermal dysplasia type III |
| RS387906973 | Health Risk | Pathogenic | Focal facial dermal dysplasia type III, Focal facial dermal dysplasia type III |
| RS387906974 | Health Risk | Pathogenic | Focal facial dermal dysplasia type III, Focal facial dermal dysplasia type III |
| RS869320750 | Health Risk | Pathogenic | Barber-Say syndrome, Barber-Say syndrome |