CIITA

class II major histocompatibility complex transactivator

Summary

This gene encodes a protein with an acidic transcriptional activation domain, 4 LRRs (leucine-rich repeats) and a GTP binding domain. The protein is located in the nucleus and acts as a positive regulator of class II major histocompatibility complex gene transcription, and is referred to as the "master control factor" for the expression of these genes. The protein also binds GTP and uses GTP binding to facilitate its own transport into the nucleus. Once in the nucleus it does not bind DNA but rather uses an intrinsic acetyltransferase (AT) activity to act in a coactivator-like fashion. Mutations in this gene have been associated with bare lymphocyte syndrome type II (also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency), increased susceptibility to rheumatoid arthritis, multiple sclerosis, and possibly myocardial infarction. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

Known Variants1,357 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1107493216:10,968,336T/Cregulatory region variant—
rs1244919916:10,968,440T/A——
rs19947605516:10,970,492C/T—not provided
rs19947605616:10,970,667A/G—not provided
rs19947605716:10,970,709C/T—not provided
rs19947605816:10,970,773C/T—not provided
rs308745616:10,970,902G/Aregulatory region variantbenign
rs19947605916:10,971,020G/A—not provided
rs18963603316:10,971,073T/G—likely benign
rs4551953116:10,971,104C/T—conflicting classifications of pathogenicity
rs53466382416:10,971,105C/T—uncertain significance
rs88605163516:10,971,106G/A—uncertain significance
rs11565935916:10,971,142G/A—benign
rs76340402716:10,971,184C/T—uncertain significance
rs136187831816:10,971,189T/G—uncertain significance
rs37549747916:10,971,191C/A—uncertain significance
rs75504865716:10,971,192G/A—uncertain significance
rs36828965016:10,971,199G/C—likely benign
rs159641233116:10,971,201C/G—uncertain significance
rs20217609016:10,971,206C/T—uncertain significance
rs37470317916:10,971,207G/A—conflicting classifications of pathogenicity
rs125113543416:10,971,208C/A—likely benign
rs74572414116:10,971,210C/G—uncertain significance
rs91167700416:10,971,217G/A—likely benign
rs125872054616:10,971,220C/A—likely benign
rs36762845116:10,971,223C/A—pathogenic
rs75316976716:10,971,225T/C—uncertain significance
rs57217038816:10,971,231A/G—uncertain significance
rs203592653116:10,971,234C/T—uncertain significance
rs214343371016:10,971,247G/T—likely benign
rs19947606016:10,971,248G/A—likely benign
rs76963567716:10,971,250C/A—likely benign
rs77817992416:10,971,251G/A—likely benign
rs214343469216:10,971,253G/A—likely benign
rs254405016516:10,971,258C/T—likely benign
rs1293218716:10,971,880C/T——
rs7277001716:10,973,612G/Aregulatory region variant—
rs992452016:10,974,355G/C——
rs1292423616:10,974,423G/A——
rs478101116:10,975,311T/Gregulatory region variant—
rs7349947316:10,978,885C/G——
rs1232523816:10,981,518C/T——
rs1259845116:10,982,607G/Ccoding sequence variant—
rs37492813616:10,989,121C/A—likely benign
rs55504050916:10,989,123T/C—likely benign
rs254427980116:10,989,124T/C—likely benign
rs11231035016:10,989,127C/T—likely benign
rs254427990216:10,989,128T/C—likely benign
rs214427627416:10,989,130C/G—likely benign
rs121293695216:10,989,134C/A—likely benign
rs254428021916:10,989,143C/T—likely benign
rs74890523816:10,989,149G/C—uncertain significance
rs20109664716:10,989,153G/T—uncertain significance
rs123802317016:10,989,155C/T—likely benign
rs77595795516:10,989,164G/C—uncertain significance
rs76078632416:10,989,165T/C—likely benign
rs203801264216:10,989,170G/A—likely benign
rs37510177816:10,989,173C/A—likely benign
rs203801336016:10,989,175T/C—uncertain significance
rs75744405516:10,989,183G/A—uncertain significance
rs76609201616:10,989,188C/T—likely benign
rs129805778116:10,989,191G/A—likely benign
rs254428138316:10,989,194G/A—likely benign
rs78146535516:10,989,195C/A—uncertain significance
rs75143746316:10,989,198C/T—uncertain significance
rs214427981316:10,989,206C/T—likely benign
rs94364415216:10,989,212T/C—likely benign
rs78123549316:10,989,215C/T—likely benign
rs222931716:10,989,219C/G—uncertain significance
rs159649756516:10,989,221G/A—likely benign
rs124747137216:10,989,225C/G—uncertain significance
rs77068781616:10,989,227C/G—likely benign
rs77841992716:10,989,230C/T—likely benign
rs88605163616:10,989,233C/T—uncertain significance
rs90745050716:10,989,239T/C—likely benign
rs37594492516:10,989,246A/G—uncertain significance
rs76873641916:10,989,250A/G—uncertain significance
rs77662411716:10,989,251C/T—likely benign
rs155550035616:10,989,256C/A—conflicting classifications of pathogenicity
rs76555159716:10,989,257T/C—likely benign
rs75941217716:10,989,260A/T—uncertain significance
rs36915456316:10,989,271T/C—uncertain significance
rs214428450816:10,989,276C/T—uncertain significance
rs254428368216:10,989,278C/T—likely benign
rs203802432716:10,989,281C/T—likely benign
rs254428381816:10,989,282T/G—uncertain significance
rs77708912716:10,989,286G/A—likely pathogenic
rs77867019016:10,989,291C/T—uncertain significance
rs254428412816:10,989,295C/T—likely benign
rs77251058816:10,989,305G/C—likely benign
rs1107493716:10,989,374C/T—benign
rs98764752116:10,989,506C/G—likely benign
rs214429863016:10,989,509G/A—uncertain significance
rs76418060716:10,989,511G/A—likely benign
rs4547479616:10,989,516T/C—benign
rs77823811116:10,989,517T/C—likely benign
rs119661992016:10,989,518C/T—likely benign
rs139212549916:10,989,521C/T—likely benign
rs75010578716:10,989,522C/T—likely benign
rs145084350616:10,989,525G/C—likely pathogenic

Showing 100 of 1,357 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.