SULT2B1

sulfotransferase family 2B member 1

Summary

Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene sulfates dehydroepiandrosterone but not 4-nitrophenol, a typical substrate for the phenol and estrogen sulfotransferase subfamilies. Two alternatively spliced variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008]

Known Variants67 total

rsidPosition (GRCh37)AllelesClassClinVar
rs75115480119:49,055,522G/A—uncertain significance
rs1698214119:49,055,524C/T—likely benign
rs123912376319:49,055,525G/A—uncertain significance
rs74816171319:49,055,527G/A—likely benign
rs52744029119:49,055,538C/T—benign
rs111416742619:49,055,582T/A—pathogenic
rs14294874719:49,070,238C/T——
rs967650919:49,072,585A/T——
rs224683619:49,074,898G/A——
rs266557719:49,075,082G/Cintron variant—
rs376080619:49,077,231C/G——
rs7667722919:49,078,226C/Tregulatory region variant—
rs11747681619:49,079,224G/A—benign
rs254479419:49,079,246C/T—benign
rs57134727619:49,079,264C/T—likely benign
rs1698214919:49,079,278T/C—likely benign
rs14609063319:49,079,307G/A—uncertain significance
rs37152806619:49,079,350G/A—likely benign
rs76707655719:49,090,470C/T—likely benign
rs19973030019:49,090,480C/G—benign
rs14052664019:49,090,503G/A—likely pathogenic
rs14911655719:49,090,548C/T—likely benign
rs37232502119:49,090,549G/A—uncertain significance
rs130312747619:49,090,569C/T—likely pathogenic
rs20151128819:49,090,599G/C—uncertain significance
rs77440110019:49,090,675T/C—uncertain significance
rs374572619:49,094,856T/C—benign
rs160111104319:49,094,868G/A—likely benign
rs111416742419:49,094,888C/Tmissense variantpathogenic
rs14931207919:49,094,943G/A—likely benign
rs378674919:49,095,278T/G——
rs1698215419:49,095,998C/T—benign
rs54432909319:49,096,020C/T—uncertain significance
rs1698215919:49,096,028G/A—likely benign
rs14505206119:49,096,058C/T—likely benign
rs230294819:49,096,065T/C—benign
rs5712242519:49,096,938A/C——
rs14891681019:49,099,829G/Cdownstream gene variant—
rs1698216919:49,100,039G/A—benign
rs124516897119:49,100,044C/T—likely benign
rs230294719:49,100,068G/A—benign
rs19984261319:49,100,092G/A—uncertain significance
rs14104919219:49,100,106C/T—likely benign
rs138541889119:49,100,149C/T—uncertain significance
rs20210368119:49,100,152C/T—uncertain significance
rs14688400819:49,100,153G/A—likely benign
rs14073080519:49,100,157C/T—likely benign
rs76276570219:49,100,171G/Amissense variantpathogenic
rs1698217019:49,100,179G/A—benign
rs54902779319:49,100,180C/T—uncertain significance
rs113205419:49,102,399T/C—benign
rs75786627819:49,102,402C/T—likely benign
rs75077689219:49,102,422C/T—uncertain significance
rs20006585619:49,102,423G/A—likely benign
rs6174877519:49,102,469C/G—conflicting classifications of pathogenicity
rs14216844419:49,102,477G/A—likely benign
rs76994241719:49,102,479C/T—likely benign
rs75214971319:49,102,501C/G—uncertain significance
rs14329254019:49,102,503C/T—uncertain significance
rs52748894119:49,102,504G/A—likely benign
rs251383521119:49,102,508G/A—uncertain significance
rs105213119:49,102,513C/T—benign
rs251383526619:49,102,532C/T—uncertain significance
rs197376747019:49,102,563T/C—uncertain significance
rs1784246319:49,102,599C/T—benign
rs77147084719:49,102,604T/C—likely benign
rs54148224519:49,102,781C/T——

Gene information from NCBI Gene. Variant classifications from ClinVar.