RUNX2

RUNX family transcription factor 2

Summary

This gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with an Runt DNA-binding domain. This protein is essential for osteoblastic differentiation and skeletal morphogenesis and acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. The protein can bind DNA both as a monomer or, with more affinity, as a subunit of a heterodimeric complex. Two regions of potential trinucleotide repeat expansions are present in the N-terminal region of the encoded protein, and these and other mutations in this gene have been associated with the bone development disorder cleidocranial dysplasia (CCD). Transcript variants that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing. [provided by RefSeq, Jul 2016]

Known Variants384 total

rsidPosition (GRCh37)AllelesClassClinVar
rs599834886:45,295,722G/Tregulatory region variant—
rs5350159756:45,296,144T/C—benign
rs1453643496:45,296,339A/G—likely benign
rs7682387706:45,296,384G/T—benign
rs1906424276:45,296,398T/C—likely benign
rs7502773426:45,296,400T/C—benign
rs8860614926:45,296,424C/T—uncertain significance
rs15629617256:45,296,466G/A—pathogenic
rs5412561056:45,296,477G/C—uncertain significance
rs7794876496:45,296,497C/T—uncertain significance
rs14414341246:45,296,506C/A—uncertain significance
rs17868716396:45,296,517T/C—uncertain significance
rs7614300496:45,296,528G/A—likely benign
rs7694554376:45,296,530T/C—likely benign
rs7628231346:45,296,539T/A—likely benign
rs122055236:45,296,618T/C—benign
rs9675886:45,306,471C/Tintron variant—
rs94630856:45,316,247T/G——
rs77485056:45,316,249C/A——
rs168733796:45,339,851T/Cintron variant—
rs37631906:45,347,644G/Aupstream gene variant—
rs69086506:45,358,107G/Aintron variant—
rs104987606:45,363,796C/Aintron variant—
rs77719806:45,389,289T/Ccoding sequence variantbenign
rs748650526:45,389,658T/A—benign
rs114981976:45,389,841G/A—likely benign
rs1460287076:45,390,088G/T—likely benign
rs1401199456:45,390,320A/T—likely benign
rs21503620646:45,390,324C/T—likely benign
rs25485815136:45,390,328A/G—likely pathogenic
rs7800333246:45,390,333C/T—uncertain significance
rs7469204196:45,390,334G/C—likely benign
rs14709113556:45,390,340C/G—likely benign
rs13842638026:45,390,345G/A—uncertain significance
rs11802640446:45,390,348G/C—uncertain significance
rs1146540666:45,390,356C/A—uncertain significance
rs1425826066:45,390,358C/T—likely benign
rs9906711816:45,390,359C/G—uncertain significance
rs13844596326:45,390,368A/T—uncertain significance
rs5346612336:45,390,371C/G—uncertain significance
rs10488851216:45,390,375A/T—uncertain significance
rs7600491186:45,390,380G/T—uncertain significance
rs7533323056:45,390,395G/T—conflicting classifications of pathogenicity
rs25485816886:45,390,419C/T—pathogenic
rs3684753006:45,390,422C/A—conflicting classifications of pathogenicity
rs5781932456:45,390,424G/A—likely benign
rs5456543116:45,390,430A/G—likely benign
rs25485817426:45,390,434C/T—pathogenic
rs5639875956:45,390,445A/G—likely benign
rs7799432236:45,390,447A/G—conflicting classifications of pathogenicity
rs21503622426:45,390,448G/A—likely benign
rs21503622566:45,390,455C/T—pathogenic
rs7685691776:45,390,457G/A—likely benign
rs25485818096:45,390,458C/T—pathogenic
rs25485818186:45,390,461C/T—pathogenic
rs14905321266:45,390,462A/G—uncertain significance
rs5758961366:45,390,466A/G—likely benign
rs25485818556:45,390,467C/T—pathogenic
rs15820943346:45,390,470C/T—pathogenic
rs12517047536:45,390,472G/A—likely benign
rs7698363166:45,390,476C/T—pathogenic
rs7631170806:45,390,481G/T—uncertain significance
rs7746312636:45,390,482C/T—likely pathogenic
rs7679845346:45,390,487G/C—uncertain significance
rs13740095796:45,390,489C/A—uncertain significance
rs7531392406:45,390,492C/A—uncertain significance
rs7612819596:45,390,493G/C—likely benign
rs15630791626:45,390,496G/A—likely benign
rs14054194946:45,390,499G/A—likely benign
rs9116110436:45,390,502T/A—likely benign
rs7499743356:45,390,504C/A—uncertain significance
rs8860614936:45,390,505G/A—likely benign
rs7580810906:45,390,507C/T—uncertain significance
rs17982514226:45,390,509G/T—uncertain significance
rs69211456:45,390,511G/A—benign
rs25485820626:45,390,518G/T—uncertain significance
rs7560720846:45,390,520T/G—likely benign
rs3721387466:45,390,525C/T—likely benign
rs7727776456:45,390,546G/A—uncertain significance
rs3682581906:45,390,547G/A—likely benign
rs17982558316:45,390,549T/A—pathogenic
rs11838964116:45,390,562C/A—uncertain significance
rs1509622686:45,390,567A/T—uncertain significance
rs7547112476:45,390,569C/A—uncertain significance
rs13041524116:45,390,571C/T—likely benign
rs7525717466:45,390,574C/A—likely benign
rs3768490246:45,390,575A/G—uncertain significance
rs3689950356:45,390,607A/G—benign
rs17982602546:45,390,611G/A—uncertain significance
rs5520616606:45,390,619C/G—benign
rs17982612716:45,390,631C/A—conflicting classifications of pathogenicity
rs15820951056:45,390,639G/A—uncertain significance
rs15820951096:45,390,642C/A—pathogenic
rs21503626416:45,390,648T/A—uncertain significance
rs21503626456:45,390,651C/G—uncertain significance
rs21503626496:45,390,659T/C—pathogenic
rs25485822266:45,390,660G/A—pathogenic
rs25485822306:45,390,662C/G—likely pathogenic
rs25485822356:45,390,671A/G—uncertain significance
rs21503626616:45,390,678T/C—pathogenic

Showing 100 of 384 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.