PAX5

paired box 5

Summary

This gene encodes a member of the paired box (PAX) family of transcription factors. The central feature of this gene family is a novel, highly conserved DNA-binding motif, known as the paired box. Paired box transcription factors are important regulators in early development, and alterations in the expression of their genes are thought to contribute to neoplastic transformation. This gene encodes the B-cell lineage specific activator protein that is expressed at early, but not late stages of B-cell differentiation. Its expression has also been detected in developing CNS and testis and so the encoded protein may also play a role in neural development and spermatogenesis. This gene is located at 9p13, which is involved in t(9;14)(p13;q32) translocations recurring in small lymphocytic lymphomas of the plasmacytoid subtype, and in derived large-cell lymphomas. This translocation brings the potent E-mu enhancer of the IgH gene into close proximity of the PAX5 promoter, suggesting that the deregulation of transcription of this gene contributes to the pathogenesis of these lymphomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

Known Variants169 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs115057496	9:36,840,327	C/T	—	benign
rs3739437	9:36,840,446	G/A	—	likely benign
rs537480017	9:36,840,541	C/T	—	likely benign
rs587777963	9:36,840,542	G/A	—	not provided
rs771002648	9:36,840,564	C/T	—	uncertain significance
rs2493136114	9:36,840,570	T/C	—	uncertain significance
rs1292058964	9:36,840,572	G/A	—	likely benign
rs773296102	9:36,840,581	G/A	—	likely benign
rs200635509	9:36,840,584	T/G	—	likely benign
rs139108915	9:36,840,596	G/A	—	likely benign
rs377685637	9:36,840,604	G/A	—	uncertain significance
rs528158465	9:36,840,607	C/T	—	uncertain significance
rs371549995	9:36,840,608	G/T	—	conflicting classifications of pathogenicity
rs778084883	9:36,840,614	G/A	—	likely benign
rs3780135	9:36,840,623	A/G	—	benign
rs768255155	9:36,840,626	G/A	—	likely benign
rs149896434	9:36,840,644	C/A	—	likely benign
rs201887362	9:36,840,645	G/A	—	likely benign
rs76743880	9:36,840,685	C/T	—	benign
rs76069305	9:36,840,706	C/A	—	likely benign
rs12337859	9:36,840,727	C/G	—	benign
rs28719643	9:36,846,593	C/T	—	benign
rs199700334	9:36,846,827	C/T	—	likely benign
rs199885584	9:36,846,828	G/A	—	likely benign
rs765671554	9:36,846,846	G/A	—	likely benign
rs754478050	9:36,846,848	C/T	—	uncertain significance
rs143965433	9:36,846,850	C/T	—	likely benign
rs777464393	9:36,846,858	G/A	—	uncertain significance
rs2131591339	9:36,846,866	C/T	—	likely pathogenic
rs142146202	9:36,846,901	G/A	—	likely benign
rs35469494	9:36,846,910	C/T	—	likely benign
rs139738432	9:36,846,912	C/T	—	uncertain significance
rs767690925	9:36,846,913	G/A	—	likely benign
rs1389188260	9:36,846,923	C/T	—	uncertain significance
rs1554646594	9:36,846,927	C/T	—	uncertain significance
rs776870070	9:36,846,931	G/T	—	likely benign
rs1587737218	9:36,846,932	T/C	—	likely benign
rs369515008	9:36,846,933	A/G	—	likely benign
rs7044118	9:36,847,139	A/G	—	benign
rs2277142	9:36,881,866	T/C	—	benign
rs150639275	9:36,881,933	G/C	—	likely benign
rs556519070	9:36,881,939	A/G	—	likely benign
rs145306022	9:36,882,023	C/T	—	likely benign
rs750194822	9:36,882,046	C/A	—	likely pathogenic
rs34810717	9:36,882,049	T/C	—	likely benign
rs779972349	9:36,882,050	G/A	—	likely benign
rs577863510	9:36,882,051	G/T	—	conflicting classifications of pathogenicity
rs543302698	9:36,882,052	G/A	—	uncertain significance
rs2131763339	9:36,882,054	G/C	—	uncertain significance
rs563606361	9:36,882,056	G/A	—	likely benign
rs144574685	9:36,882,059	G/A	—	likely benign
rs35077960	9:36,882,090	G/A	—	benign
rs1272553367	9:36,882,091	C/T	—	uncertain significance
rs199646937	9:36,882,099	C/T	—	uncertain significance
rs1214797180	9:36,882,100	G/A	—	uncertain significance
rs2277143	9:36,882,141	T/C	—	benign
rs191297254	9:36,923,343	T/C	—	likely benign
rs772637243	9:36,923,355	T/C	—	uncertain significance
rs769403917	9:36,923,374	C/T	—	likely benign
rs376952815	9:36,923,375	G/A	—	uncertain significance
rs587778590	9:36,923,405	G/A	—	not provided
rs79813621	9:36,923,408	G/A	—	uncertain significance
rs758672654	9:36,923,433	T/A	—	uncertain significance
rs143317078	9:36,923,437	G/A	—	likely benign
rs149708683	9:36,923,440	C/T	—	likely benign
rs1830348981	9:36,923,443	C/G	—	conflicting classifications of pathogenicity
rs2493777351	9:36,923,454	G/A	—	likely benign
rs371066564	9:36,923,455	C/T	—	likely benign
rs1397579712	9:36,923,464	G/A	—	likely benign
rs116002069	9:36,923,608	G/A	—	benign
rs10121984	9:36,923,766	C/G	—	benign
rs74349584	9:36,928,101	C/G	—	benign
rs4880038	9:36,928,288	T/C	—	benign
rs55925442	9:36,928,296	C/A	—	benign
rs4880039	9:36,928,389	C/A	—	benign
rs16933748	9:36,928,504	C/T	—	benign
rs4878667	9:36,928,576	T/C	—	benign
rs56084540	9:36,934,002	G/A	intron variant	—
rs2297108	9:36,966,379	A/G	—	benign
rs183623699	9:36,966,501	A/G	—	likely benign
rs73648177	9:36,966,513	G/A	—	likely benign
rs778319865	9:36,966,536	C/T	—	likely benign
rs113556063	9:36,966,552	G/A	—	likely benign
rs1834457451	9:36,966,578	A/C	—	uncertain significance
rs763062305	9:36,966,586	G/A	—	uncertain significance
rs1384491158	9:36,966,595	T/C	—	uncertain significance
rs774702142	9:36,966,609	G/A	—	likely benign
rs984035588	9:36,966,611	G/A	—	uncertain significance
rs753068558	9:36,966,625	A/G	—	uncertain significance
rs756603249	9:36,966,626	G/A	—	likely benign
rs1416375120	9:36,966,629	G/T	—	uncertain significance
rs963884418	9:36,966,642	C/G	—	uncertain significance
rs1834464853	9:36,966,653	G/A	—	uncertain significance
rs142210825	9:36,966,664	C/T	—	uncertain significance
rs2132194720	9:36,966,665	G/A	—	pathogenic
rs1834465587	9:36,966,667	A/G	—	uncertain significance
rs1220530661	9:36,966,682	G/A	—	uncertain significance
rs754584860	9:36,966,687	C/T	—	likely benign
rs137870876	9:36,966,688	G/A	—	conflicting classifications of pathogenicity
rs773198171	9:36,966,696	G/A	—	likely benign

Showing 100 of 169 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.