OLIG2

oligodendrocyte transcription factor 2

Summary

This gene encodes a basic helix-loop-helix transcription factor which is expressed in oligodendroglial tumors of the brain. The protein is an essential regulator of ventral neuroectodermal progenitor cell fate. The gene is involved in a chromosomal translocation t(14;21)(q11.2;q22) associated with T-cell acute lymphoblastic leukemia. Its chromosomal location is within a region of chromosome 21 which has been suggested to play a role in learning deficits associated with Down syndrome. [provided by RefSeq, Jul 2008]

Known Variants18 total

rsidPosition (GRCh37)AllelesClassClinVar
rs651713521:34,397,571T/Cregulatory region variant
rs100557321:34,398,716C/G
rs74582326721:34,399,223A/Cuncertain significance
rs251733775621:34,399,309T/Cuncertain significance
rs76217821:34,399,401A/Gsynonymous variant
rs77593101621:34,399,502T/Guncertain significance
rs127061432221:34,399,519G/Auncertain significance
rs76617139121:34,399,569G/Tuncertain significance
rs125730939221:34,399,769C/Guncertain significance
rs95508949221:34,399,840C/Tuncertain significance
rs138706387921:34,399,851A/Glikely benign
rs123323535521:34,399,942C/Tuncertain significance
rs251733899621:34,400,002G/Auncertain significance
rs98639482521:34,400,038G/Tuncertain significance
rs251733922421:34,400,111G/Cuncertain significance
rs105900421:34,400,463C/A3 prime UTR variant
rs651713721:34,400,779T/C3 prime UTR variant
rs965371121:34,401,949G/A

Gene information from NCBI Gene. Variant classifications from ClinVar.