TWIST2

Chr 2

twist family bHLH transcription factor 2

Also known as: AMS, BBRSAY, DERMO1, FFDD3, SETLSS, bHLHa39

NCBI Gene: 117581 ENSG00000233608 UniProt: Q8WVJ9

TWIST2 encodes a basic helix-loop-helix transcription factor that binds E-box DNA sequences to regulate gene expression, inhibiting muscle differentiation and osteoblast maturation while repressing inflammatory cytokine expression. Mutations cause focal facial dermal dysplasia type 3 (Setleis type), characterized by distinctive facial features and skin abnormalities. This condition follows an autosomal dominant inheritance pattern.

ResearchSummary from RefSeq, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtFocal facial dermal dysplasia 3, Setleis type

UniProtAblepharon-macrostomia syndrome

UniProtBarber-Say syndrome

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.15

LOEUF

Multiple*

Mechanism· G2P

Some data sources returned errors (1)

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