PAX6

paired box 6

Summary

This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to a conserved paired box domain, a hallmark feature of this gene family, the encoded protein also contains a homeobox domain. Both domains are known to bind DNA and function as regulators of gene transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. Use of alternate promoters and alternative splicing results in multiple transcript variants encoding different isoforms. Interestingly, inclusion of a particular alternate coding exon has been shown to increase the length of the paired box domain and alter its DNA binding specificity. Consequently, isoforms that carry the shorter paired box domain regulate a different set of genes compared to the isoforms carrying the longer paired box domain. [provided by RefSeq, Mar 2019]

Known Variants525 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs146579778	11:31,806,374	T/C	—	likely benign
rs748381549	11:31,806,476	G/C	—	uncertain significance
rs1171230486	11:31,806,687	A/C	—	uncertain significance
rs1269133831	11:31,806,698	G/A	—	uncertain significance
rs180780893	11:31,806,786	C/G	—	conflicting classifications of pathogenicity
rs140971065	11:31,806,855	T/G	—	conflicting classifications of pathogenicity
rs185968715	11:31,806,883	A/C	—	likely benign
rs745626044	11:31,806,949	A/G	—	uncertain significance
rs183115097	11:31,807,112	G/C	—	likely benign
rs544117348	11:31,807,113	C/G	—	uncertain significance
rs886048181	11:31,807,121	A/G	—	uncertain significance
rs16922475	11:31,807,186	C/G	—	benign
rs886048182	11:31,807,354	G/A	—	uncertain significance
rs886048183	11:31,807,406	T/G	—	uncertain significance
rs990066045	11:31,807,459	C/T	—	uncertain significance
rs886048184	11:31,807,479	C/A	—	uncertain significance
rs3026401	11:31,807,524	C/T	—	benign
rs886048185	11:31,807,574	G/A	—	uncertain significance
rs1948594512	11:31,807,594	G/T	—	uncertain significance
rs183433948	11:31,807,597	C/A	—	likely benign
rs1948597981	11:31,807,628	T/C	—	uncertain significance
rs567720234	11:31,807,736	G/A	—	conflicting classifications of pathogenicity
rs549835579	11:31,807,788	T/C	—	uncertain significance
rs149777109	11:31,807,812	G/A	—	conflicting classifications of pathogenicity
rs1006923180	11:31,807,917	T/C	—	uncertain significance
rs191399467	11:31,808,054	G/A	—	conflicting classifications of pathogenicity
rs1948639449	11:31,808,064	G/A	—	uncertain significance
rs371438311	11:31,808,164	T/C	—	conflicting classifications of pathogenicity
rs1010978990	11:31,808,279	T/C	—	uncertain significance
rs608293	11:31,808,280	T/C	—	benign
rs187705792	11:31,808,314	G/A	—	conflicting classifications of pathogenicity
rs994285025	11:31,808,375	G/A	—	uncertain significance
rs541022955	11:31,808,455	C/T	—	conflicting classifications of pathogenicity
rs3026399	11:31,808,497	C/T	—	likely benign
rs192709453	11:31,808,505	G/T	—	likely benign
rs886048187	11:31,808,576	T/C	—	uncertain significance
rs542906080	11:31,808,581	A/G	—	likely benign
rs143185259	11:31,808,600	A/G	—	conflicting classifications of pathogenicity
rs906435505	11:31,808,660	A/G	—	uncertain significance
rs1948715280	11:31,808,778	T/A	—	uncertain significance
rs138881442	11:31,808,785	A/T	—	likely benign
rs558836571	11:31,808,787	T/A	—	uncertain significance
rs865924000	11:31,808,844	G/C	—	uncertain significance
rs141344418	11:31,808,923	C/T	—	benign
rs886048190	11:31,808,931	G/A	—	uncertain significance
rs3026397	11:31,808,976	G/A	—	conflicting classifications of pathogenicity
rs886048191	11:31,808,992	C/T	—	uncertain significance
rs886048192	11:31,809,050	T/C	—	uncertain significance
rs79739975	11:31,809,066	C/A	—	likely benign
rs886048193	11:31,809,089	A/G	—	uncertain significance
rs886048194	11:31,809,095	C/A	—	uncertain significance
rs886048195	11:31,809,097	C/G	—	uncertain significance
rs1948752515	11:31,809,128	G/A	—	uncertain significance
rs73477656	11:31,809,177	C/T	—	benign
rs73477658	11:31,809,244	A/C	—	likely benign
rs3026396	11:31,809,323	G/A	—	conflicting classifications of pathogenicity
rs923696320	11:31,809,395	G/T	—	uncertain significance
rs1452069622	11:31,809,513	T/C	—	uncertain significance
rs1948792866	11:31,809,614	G/T	—	uncertain significance
rs1029065786	11:31,809,643	A/G	—	uncertain significance
rs189545730	11:31,809,878	T/A	—	conflicting classifications of pathogenicity
rs886048196	11:31,809,961	G/A	—	uncertain significance
rs181818313	11:31,810,004	G/A	—	likely benign
rs138035131	11:31,810,046	C/T	—	likely benign
rs776894983	11:31,810,088	T/G	—	uncertain significance
rs576321279	11:31,810,195	T/A	—	conflicting classifications of pathogenicity
rs1506	11:31,810,298	T/A	downstream gene variant	benign
rs117590302	11:31,810,419	T/C	—	benign
rs886048197	11:31,810,429	A/G	—	uncertain significance
rs886048198	11:31,810,543	T/C	—	uncertain significance
rs530259403	11:31,810,591	C/T	—	conflicting classifications of pathogenicity
rs115045926	11:31,810,640	C/T	—	likely benign
rs530931929	11:31,810,641	G/A	—	conflicting classifications of pathogenicity
rs1250874661	11:31,810,856	C/G	—	uncertain significance
rs55756603	11:31,811,065	G/A	—	likely benign
rs774473337	11:31,811,125	T/A	—	uncertain significance
rs766518284	11:31,811,147	A/G	—	uncertain significance
rs934715799	11:31,811,210	A/C	—	uncertain significance
rs1468270124	11:31,811,235	A/T	—	uncertain significance
rs753595935	11:31,811,256	A/G	—	uncertain significance
rs886048199	11:31,811,275	C/T	—	uncertain significance
rs886048201	11:31,811,375	C/G	—	uncertain significance
rs572377074	11:31,811,392	T/G	—	uncertain significance
rs121907922	11:31,811,483	T/A	stop lost	pathogenic
rs750848278	11:31,811,484	A/G	—	pathogenic
rs758783285	11:31,811,485	C/T	—	likely benign
rs751795008	11:31,811,487	G/T	—	likely benign
rs755181141	11:31,811,492	C/T	—	uncertain significance
rs1275201726	11:31,811,500	G/A	—	likely benign
rs2494592469	11:31,811,506	A/C	—	likely benign
rs541260494	11:31,811,511	T/C	—	uncertain significance
rs369180308	11:31,811,527	G/C	—	uncertain significance
rs372956285	11:31,811,551	A/C	—	likely benign
rs78290542	11:31,811,557	G/A	—	benign
rs2134385128	11:31,811,562	T/A	—	uncertain significance
rs776244636	11:31,811,563	G/T	—	likely benign
rs1592350356	11:31,811,568	C/G	—	pathogenic
rs1057520551	11:31,811,569	T/C	—	pathogenic
rs11031477	11:31,811,571	G/C	—	likely benign
rs1167365776	11:31,811,574	G/A	—	likely benign

Showing 100 of 525 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.