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

rs146095395 in TWIST2 gene and Alopecia PMID 28196072 2017 Genetic prediction of male pattern baldness.

rs62191087 in TWIST2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs146095395 in TWIST2 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.