RHBDF2

rhomboid 5 homolog 2

Summary

Predicted to enable protein transporter activity. Predicted to be involved in negative regulation of protein secretion and regulation of epidermal growth factor receptor signaling pathway. Predicted to act upstream of or within protein localization to plasma membrane and regulation of metalloendopeptidase activity. Located in plasma membrane. Implicated in palmoplantar keratoderma-esophageal carcinoma syndrome. [provided by Alliance of Genome Resources, Apr 2025]

Known Variants334 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs7221225	17:74,466,973	T/G	—	benign
rs886053461	17:74,466,989	A/C	—	uncertain significance
rs137910466	17:74,467,004	T/C	—	benign
rs576948274	17:74,467,012	C/T	—	benign
rs886053462	17:74,467,013	G/C	—	uncertain significance
rs8150	17:74,467,017	G/C	downstream gene variant	benign
rs886053463	17:74,467,073	C/T	—	uncertain significance
rs2289802	17:74,467,096	T/C	—	benign
rs2073539386	17:74,467,109	G/A	—	uncertain significance
rs774762832	17:74,467,125	G/A	—	uncertain significance
rs111924263	17:74,467,135	A/G	—	benign
rs2289801	17:74,467,164	C/G	—	benign
rs1318338133	17:74,467,178	C/T	—	uncertain significance
rs765820971	17:74,467,179	C/T	—	uncertain significance
rs11553544	17:74,467,204	T/C	—	benign
rs2073544332	17:74,467,240	A/C	—	uncertain significance
rs886053464	17:74,467,266	G/A	—	uncertain significance
rs976788604	17:74,467,310	A/G	—	uncertain significance
rs886053465	17:74,467,349	G/C	—	uncertain significance
rs2073549599	17:74,467,373	A/G	—	uncertain significance
rs886053466	17:74,467,405	C/T	—	uncertain significance
rs886053467	17:74,467,428	G/A	—	uncertain significance
rs1028206900	17:74,467,510	G/A	—	uncertain significance
rs59252239	17:74,467,517	C/T	—	benign
rs886053468	17:74,467,533	C/T	—	uncertain significance
rs374842629	17:74,467,534	G/A	—	benign
rs886053469	17:74,467,555	C/T	—	uncertain significance
rs553431491	17:74,467,599	C/T	—	benign
rs1191353898	17:74,467,662	C/A	—	uncertain significance
rs76764510	17:74,467,664	C/G	—	benign
rs369525630	17:74,467,712	C/T	—	likely benign
rs889687434	17:74,467,719	T/G	—	uncertain significance
rs751079223	17:74,467,747	C/T	—	uncertain significance
rs886053470	17:74,467,748	G/A	—	uncertain significance
rs780242428	17:74,467,756	G/A	—	uncertain significance
rs2509761158	17:74,467,801	T/C	—	uncertain significance
rs1211218604	17:74,467,810	A/G	—	uncertain significance
rs768744728	17:74,467,813	T/C	—	likely benign
rs777048270	17:74,467,828	C/T	—	uncertain significance
rs770206566	17:74,467,834	C/T	—	conflicting classifications of pathogenicity
rs751181902	17:74,467,846	C/T	—	uncertain significance
rs192376885	17:74,467,847	G/A	—	likely benign
rs752634503	17:74,467,853	G/A	—	likely benign
rs552032358	17:74,467,870	G/C	—	uncertain significance
rs1481495660	17:74,467,881	C/T	—	uncertain significance
rs1425000939	17:74,467,915	T/C	—	uncertain significance
rs115094923	17:74,467,934	G/A	—	likely benign
rs148859527	17:74,467,952	G/A	—	likely benign
rs370631928	17:74,467,967	G/A	—	likely benign
rs753789924	17:74,467,982	G/A	—	likely benign
rs188076576	17:74,468,005	T/A	—	likely benign
rs748278517	17:74,468,009	C/T	—	likely benign
rs1455866928	17:74,468,025	G/A	—	uncertain significance
rs1418126699	17:74,468,028	G/A	—	uncertain significance
rs150984603	17:74,468,033	G/T	—	conflicting classifications of pathogenicity
rs774772768	17:74,468,038	G/A	—	uncertain significance
rs375580401	17:74,468,066	C/T	—	likely benign
rs145928659	17:74,468,067	G/A	—	uncertain significance
rs202160090	17:74,468,111	G/A	—	uncertain significance
rs374520556	17:74,468,126	C/T	—	uncertain significance
rs1253559551	17:74,468,127	G/A	—	uncertain significance
rs1598648310	17:74,468,537	T/C	—	uncertain significance
rs12942767	17:74,468,552	G/A	—	benign
rs201734337	17:74,468,761	T/C	—	benign
rs2073625068	17:74,468,791	T/C	—	uncertain significance
rs1228804799	17:74,468,798	G/A	—	likely benign
rs2073625409	17:74,468,800	C/T	—	uncertain significance
rs745487928	17:74,468,839	C/T	—	uncertain significance
rs754066543	17:74,468,844	C/T	—	uncertain significance
rs762095662	17:74,468,845	G/A	—	uncertain significance
rs377079794	17:74,468,863	T/C	—	uncertain significance
rs755084226	17:74,468,870	G/A	—	likely benign
rs886053471	17:74,468,872	C/A	—	uncertain significance
rs1007795162	17:74,468,908	G/A	—	uncertain significance
rs2073630578	17:74,468,914	G/A	—	uncertain significance
rs575187651	17:74,468,920	C/T	—	conflicting classifications of pathogenicity
rs775006389	17:74,468,938	C/T	—	likely benign
rs529460959	17:74,469,089	A/G	—	benign
rs2509777060	17:74,469,146	G/A	—	uncertain significance
rs2073639943	17:74,469,153	G/C	—	uncertain significance
rs77626078	17:74,469,160	G/A	—	likely benign
rs2509777506	17:74,469,179	G/C	—	uncertain significance
rs138683747	17:74,469,185	C/T	—	likely benign
rs1005245675	17:74,469,243	C/T	—	uncertain significance
rs374902969	17:74,469,323	C/A	—	uncertain significance
rs200007588	17:74,469,327	G/A	—	likely benign
rs1459276321	17:74,469,347	G/A	—	uncertain significance
rs943349758	17:74,469,393	G/A	—	uncertain significance
rs2073651143	17:74,469,406	A/C	—	uncertain significance
rs371635375	17:74,469,415	G/T	—	benign
rs2073664572	17:74,469,733	C/T	—	uncertain significance
rs1376581008	17:74,469,746	T/C	—	uncertain significance
rs182709534	17:74,469,757	C/T	—	uncertain significance
rs2509784772	17:74,469,758	G/A	—	uncertain significance
rs73998915	17:74,469,779	C/T	—	uncertain significance
rs1465577038	17:74,469,796	T/C	—	likely benign
rs141461044	17:74,469,835	G/C	—	benign
rs539857031	17:74,469,839	C/A	—	likely benign
rs114994065	17:74,469,909	A/G	—	likely benign
rs201989863	17:74,469,914	C/T	—	likely benign

Showing 100 of 334 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.