TWIST2

twist family bHLH transcription factor 2

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]

Known Variants24 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1275864437	2:239,756,885	C/T	—	uncertain significance
rs1370997462	2:239,756,889	C/G	—	likely benign
rs1177711455	2:239,756,919	G/A	—	likely benign
rs2106345702	2:239,756,924	A/C	—	uncertain significance
rs1441726141	2:239,756,927	G/A	—	uncertain significance
rs930389695	2:239,756,939	G/A	—	uncertain significance
rs1458958603	2:239,757,016	G/A	—	uncertain significance
rs761752428	2:239,757,048	G/A	—	likely benign
rs387906974	2:239,757,049	C/T	stop gained	pathogenic
rs2469773761	2:239,757,059	G/T	—	uncertain significance
rs1553565140	2:239,757,079	G/A	—	pathogenic
rs1553565143	2:239,757,080	A/C	—	pathogenic
rs903088398	2:239,757,105	C/T	—	likely benign
rs752271468	2:239,757,186	C/A	—	likely benign
rs387906973	2:239,757,211	C/T	stop gained	pathogenic
rs1692176955	2:239,757,212	A/G	—	uncertain significance
rs1183484316	2:239,757,216	C/T	—	likely benign
rs1418263889	2:239,757,236	A/G	—	uncertain significance
rs2469774153	2:239,757,239	A/G	—	uncertain significance
rs1165074128	2:239,757,270	C/G	—	uncertain significance
rs1340830257	2:239,757,305	T/C	—	uncertain significance
rs779250622	2:239,757,346	G/A	—	likely benign
rs140091823	2:239,768,945	C/G	—	—
rs188051537	2:239,773,889	A/G	regulatory region variant	—

Gene information from NCBI Gene. Variant classifications from ClinVar.