ZBTB20

zinc finger and BTB domain containing 20

Summary

This gene, which was initially designated as dendritic cell-derived BTB/POZ zinc finger (DPZF), belongs to a family of transcription factors with an N-terminal BTB/POZ domain and a C-terminal DNA-bindng zinc finger domain. The BTB/POZ domain is a hydrophobic region of approximately 120 aa which mediates association with other BTB/POZ domain-containing proteins. This gene acts as a transcriptional repressor and plays a role in many processes including neurogenesis, glucose homeostasis, and postnatal growth. Mutations in this gene have been associated with Primrose syndrome as well as the 3q13.31 microdeletion syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]

Known Variants289 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs115443943	3:114,040,972	C/G	intergenic variant	—
rs150338507	3:114,052,621	T/G	downstream gene variant	—
rs114699546	3:114,057,846	T/C	—	benign
rs150263896	3:114,057,857	C/T	missense variant	pathogenic
rs142627077	3:114,057,879	G/A	—	likely benign
rs2550436269	3:114,057,886	T/C	—	uncertain significance
rs2550436341	3:114,057,896	C/T	—	uncertain significance
rs755626140	3:114,057,911	T/C	—	uncertain significance
rs779910215	3:114,057,923	C/T	—	likely benign
rs753707274	3:114,057,924	G/A	—	likely benign
rs2079570455	3:114,057,942	C/T	—	likely benign
rs2550436826	3:114,057,949	G/A	—	uncertain significance
rs749725678	3:114,057,960	C/G	—	likely benign
rs769253978	3:114,057,962	C/T	—	benign
rs2108081749	3:114,057,964	C/A	—	uncertain significance
rs990208187	3:114,057,967	G/A	—	uncertain significance
rs760379885	3:114,057,979	C/G	—	uncertain significance
rs765872340	3:114,057,980	G/A	—	uncertain significance
rs898534219	3:114,057,984	A/C	—	likely benign
rs754853149	3:114,057,988	G/A	—	conflicting classifications of pathogenicity
rs2079576357	3:114,057,998	C/T	—	likely benign
rs150974347	3:114,058,000	G/A	—	benign
rs746081497	3:114,058,005	G/A	—	likely benign
rs139619357	3:114,058,008	G/T	—	likely benign
rs779975002	3:114,058,010	T/G	—	uncertain significance
rs2079578882	3:114,058,013	C/G	—	uncertain significance
rs149518419	3:114,058,037	C/A	—	uncertain significance
rs574415847	3:114,058,050	G/T	—	likely benign
rs2550438194	3:114,058,111	T/C	—	pathogenic
rs765023562	3:114,058,116	G/A	—	likely benign
rs1560092224	3:114,058,123	T/C	—	pathogenic
rs144019743	3:114,058,128	G/A	—	likely benign
rs2079586826	3:114,058,129	T/A	—	likely pathogenic
rs2550438318	3:114,058,130	T/G	—	likely pathogenic
rs1576220405	3:114,058,139	T/G	—	conflicting classifications of pathogenicity
rs374751714	3:114,058,143	C/T	—	likely benign
rs2550438450	3:114,058,147	G/A	—	uncertain significance
rs1175803748	3:114,058,149	G/A	—	likely benign
rs2079589483	3:114,058,162	C/T	—	pathogenic
rs2550438573	3:114,058,163	A/G	—	likely pathogenic
rs368927046	3:114,058,167	A/G	—	likely benign
rs2550438639	3:114,058,172	A/G	—	pathogenic
rs1553789264	3:114,058,193	T/C	—	likely pathogenic
rs2108083606	3:114,058,196	G/T	—	likely pathogenic
rs2550438783	3:114,058,199	T/C	—	pathogenic
rs483353063	3:114,058,202	C/T	missense variant	pathogenic
rs1064795382	3:114,058,205	T/C	missense variant	pathogenic
rs200510447	3:114,058,206	G/A	—	likely benign
rs2550438849	3:114,058,207	T/G	—	pathogenic
rs1553789275	3:114,058,209	C/G	—	pathogenic
rs148654668	3:114,058,212	G/T	—	likely benign
rs1576220750	3:114,058,216	A/G	—	pathogenic
rs483353070	3:114,058,217	G/A	missense variant	pathogenic
rs755098861	3:114,058,218	G/C	—	pathogenic
rs2550438978	3:114,058,226	T/C	—	pathogenic
rs545888210	3:114,058,227	T/C	—	likely benign
rs879255635	3:114,058,231	G/A	missense variant	pathogenic
rs2550439042	3:114,058,233	G/C	—	uncertain significance
rs2079593999	3:114,058,234	A/G	—	uncertain significance
rs2550439092	3:114,058,240	C/A	—	likely pathogenic
rs1576220876	3:114,058,241	G/A	—	pathogenic
rs2108083983	3:114,058,243	C/T	—	uncertain significance
rs2550439129	3:114,058,246	C/T	—	pathogenic
rs2550439168	3:114,058,255	C/T	—	uncertain significance
rs1560092633	3:114,058,256	A/G	—	pathogenic
rs1576220938	3:114,058,261	T/G	—	pathogenic
rs1576220959	3:114,058,265	G/A	—	likely pathogenic
rs483353069	3:114,058,267	T/G	missense variant	pathogenic
rs483353068	3:114,058,273	C/G	missense variant	pathogenic
rs2108084192	3:114,058,277	T/C	—	uncertain significance
rs747399622	3:114,058,293	C/A	—	benign
rs115257623	3:114,058,362	A/G	—	benign
rs17670486	3:114,058,413	C/T	—	benign
rs483353067	3:114,069,123	G/A	missense variant	pathogenic
rs2080556351	3:114,069,124	T/C	—	uncertain significance
rs1560110565	3:114,069,125	G/C	—	pathogenic
rs2550499110	3:114,069,126	T/C	—	likely pathogenic
rs755193739	3:114,069,128	T/C	—	likely benign
rs1331926530	3:114,069,130	C/A	—	pathogenic
rs752829783	3:114,069,137	G/C	—	likely pathogenic
rs483353066	3:114,069,138	T/C	missense variant	pathogenic
rs1057519435	3:114,069,139	G/A	missense variant	pathogenic
rs2108199978	3:114,069,142	T/C	—	likely pathogenic
rs758842476	3:114,069,146	G/C	—	uncertain significance
rs1240860015	3:114,069,150	T/C	—	likely pathogenic
rs483353065	3:114,069,154	G/C	missense variant	pathogenic
rs483353064	3:114,069,157	T/G	missense variant	pathogenic
rs1057524076	3:114,069,159	G/T	missense variant	pathogenic
rs1576280892	3:114,069,165	A/C	—	pathogenic
rs2550499315	3:114,069,170	C/A	—	uncertain significance
rs2550499342	3:114,069,178	A/G	—	likely pathogenic
rs2550499352	3:114,069,180	A/C	—	uncertain significance
rs2550499377	3:114,069,186	C/T	—	pathogenic
rs1576280941	3:114,069,191	A/T	—	likely pathogenic
rs373684972	3:114,069,206	G/T	—	likely benign
rs1218711824	3:114,069,232	C/T	—	benign
rs768674584	3:114,069,235	C/T	—	benign
rs147837508	3:114,069,236	G/A	—	likely benign
rs866104928	3:114,069,253	G/T	—	uncertain significance
rs538588891	3:114,069,257	C/T	—	likely benign

Showing 100 of 289 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.