Gene: TWIST2

Alternate names for this Gene: AMS|BBRSAY|DERMO1|FFDD3|SETLSS|bHLHa39

Gene Summary: 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2q37.3

Description of this Gene: twist family bHLH transcription factor 2

Type of Gene: protein-coding

Gene: LOC100287387

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

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rs1553565140 in TWIST2;LOC100287387 gene and Multiple congenital anomalies PMID 20691403 2010 Homozygous nonsense mutations in TWIST2 cause Setleis syndrome.

PMID 26119818 2015 Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

PMID 25410422 2015 Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation.