ARID4A

AT-rich interaction domain 4A

Summary

The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein (pRB) which regulates cell proliferation. pRB represses transcription by recruiting the encoded protein. This protein, in turn, serves as a bridging molecule to recruit HDACs and, in addition, provides a second HDAC-independent repression function. The encoded protein possesses transcriptional repression activity. Multiple alternatively spliced transcripts have been observed for this gene, although not all transcript variants have been fully described. [provided by RefSeq, Jul 2008]

Known Variants57 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs71414197	14:58,764,581	T/C	regulatory region variant	—
rs55791516	14:58,765,900	T/C	—	—
rs61974485	14:58,765,903	T/C	regulatory region variant	—
rs148954262	14:58,768,403	G/A	—	uncertain significance
rs8012947	14:58,784,455	A/G	intron variant	—
rs6573199	14:58,784,781	T/C	intron variant	—
rs141577860	14:58,794,992	A/G	—	uncertain significance
rs8005422	14:58,795,687	A/G	intron variant	—
rs768460474	14:58,796,256	G/A	—	uncertain significance
rs2503144183	14:58,796,257	C/A	—	uncertain significance
rs774931862	14:58,796,286	C/G	—	uncertain significance
rs200497377	14:58,796,290	A/G	—	likely benign
rs751481176	14:58,796,755	A/T	—	uncertain significance
rs755774185	14:58,796,766	A/C	—	uncertain significance
rs149267609	14:58,813,174	A/G	—	uncertain significance
rs757363493	14:58,813,183	A/G	—	uncertain significance
rs780905106	14:58,814,388	A/T	—	uncertain significance
rs139221235	14:58,814,402	A/C	—	uncertain significance
rs2542160667	14:58,814,448	A/G	—	uncertain significance
rs769864095	14:58,814,474	A/G	—	uncertain significance
rs771443891	14:58,814,544	T/A	—	uncertain significance
rs12878359	14:58,816,212	A/C	intron variant	—
rs751088682	14:58,817,839	G/A	—	uncertain significance
rs1244081750	14:58,817,857	G/A	—	uncertain significance
rs373212552	14:58,820,514	C/G	—	uncertain significance
rs2035018997	14:58,825,850	G/T	—	uncertain significance
rs142443997	14:58,827,719	C/T	—	uncertain significance
rs763120468	14:58,827,722	A/G	—	uncertain significance
rs1410496454	14:58,830,889	C/G	—	uncertain significance
rs760395662	14:58,831,088	G/C	—	uncertain significance
rs754571344	14:58,831,149	A/T	—	uncertain significance
rs2035266876	14:58,831,187	G/A	—	uncertain significance
rs747316184	14:58,831,206	A/C	—	uncertain significance
rs759272759	14:58,831,268	C/A	—	uncertain significance
rs201513311	14:58,831,328	G/C	—	uncertain significance
rs1594966387	14:58,831,421	G/T	—	likely pathogenic
rs969725675	14:58,831,431	T/A	—	uncertain significance
rs2542226437	14:58,831,479	G/T	—	uncertain significance
rs2542226789	14:58,831,533	A/C	—	uncertain significance
rs183439434	14:58,831,765	C/G	—	uncertain significance
rs201016535	14:58,831,862	G/A	—	likely benign
rs1327851525	14:58,831,863	T/C	—	uncertain significance
rs2542229047	14:58,831,887	T/C	—	uncertain significance
rs2542229154	14:58,831,898	A/G	—	uncertain significance
rs377087834	14:58,831,995	A/G	—	uncertain significance
rs370213485	14:58,832,001	G/A	—	uncertain significance
rs62621193	14:58,832,019	G/A	—	conflicting classifications of pathogenicity
rs369990611	14:58,832,290	G/A	—	uncertain significance
rs531337130	14:58,832,292	A/G	—	uncertain significance
rs547522665	14:58,832,302	G/A	—	uncertain significance
rs746735924	14:58,832,790	A/C	—	uncertain significance
rs1004262506	14:58,832,796	C/T	—	uncertain significance
rs201425263	14:58,832,862	C/T	—	uncertain significance
rs990046431	14:58,832,895	G/C	—	uncertain significance
rs199524971	14:58,832,939	T/G	—	uncertain significance
rs763843963	14:58,838,613	C/T	—	uncertain significance
rs1324397339	14:58,838,625	T/C	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.