TWIST2 twist family bHLH transcription factor 2

Gene ID: 117581, updated on 19-Sep-2024
Gene type: protein coding
Also known as: AMS; FFDD3; BBRSAY; DERMO1; SETLSS; bHLHa39

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. [provided by RefSeq, Apr 2014]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Ablepharon macrostomia syndrome MedGen: C1860224OMIM: 200110GeneReviews: Not available	See labs
Barber-Say syndrome MedGen: C1319466OMIM: 209885GeneReviews: Not available	See labs
Focal facial dermal dysplasia type III MedGen: C1744559OMIM: 227260GeneReviews: Not available	See labs

Genomic context

Location:: 2q37.3

Sequence:: Chromosome: 2; NC_000002.12 (238848085..238910534)

Total number of exons:: 4

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for TWIST2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
TWIST2 @ LOVD
Variation Viewer
Related Variants

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