FHOD3

formin homology 2 domain containing 3

Summary

The protein encoded by this gene is a member of the diaphanous-related formins (DRF), and contains multiple domains, including GBD (GTPase-binding domain), DID (diaphanous inhibitory domain), FH1 (formin homology 1), FH2 (formin homology 2), and DAD (diaphanous auto-regulatory domain) domains. This protein is thought to play a role in actin filament polymerization in cardiomyocytes. Mutations in this gene have been associated with dilated cardiomyopathy (DCM), characterized by dilation of the ventricular chamber, leading to impairment of systolic pump function and subsequent heart failure. Increased levels of the protein encoded by this gene have been observed in individuals with hypertrophic cardiomyopathy (HCM). Alternative splicing results in multiple transcript variants encoding different isoforms. A muscle-specific isoform has been shown to possess a casein kinase 2 (CK2) phosphorylation site at the C-terminal end of the FH2 domain. Phosphorylation of this site alters its interaction with sequestosome 1 (SQSTM1), and targets this isoform to myofibrils, while other isoforms form cytoplasmic aggregates. [provided by RefSeq, Aug 2015]

Known Variants302 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs9957308	18:33,877,442	C/G	—	benign
rs66461566	18:33,877,496	G/C	—	benign
rs67333109	18:33,877,510	C/T	—	benign
rs148190588	18:33,877,666	C/G	—	benign
rs188660514	18:33,877,687	T/C	—	benign
rs141472663	18:33,877,713	G/T	—	benign
rs2511017984	18:33,877,868	G/A	—	uncertain significance
rs755501978	18:33,877,878	G/C	—	uncertain significance
rs371634710	18:33,877,907	C/G	—	uncertain significance
rs1047727032	18:33,877,911	C/T	—	uncertain significance
rs547467990	18:33,877,915	C/T	—	likely benign
rs2511019186	18:33,877,920	C/T	—	uncertain significance
rs4438379	18:33,878,083	C/T	—	benign
rs9957382	18:33,935,302	A/G	—	benign
rs371041805	18:33,935,493	C/G	—	likely benign
rs2511834881	18:33,935,508	G/C	—	uncertain significance
rs375600648	18:33,935,533	A/G	—	uncertain significance
rs772371175	18:33,935,538	G/A	—	likely benign
rs2511835926	18:33,935,571	C/T	—	uncertain significance
rs199791578	18:33,935,574	C/T	—	uncertain significance
rs186410723	18:33,935,575	G/A	—	uncertain significance
rs79498577	18:33,935,699	A/G	—	likely benign
rs16967790	18:33,935,813	G/C	—	benign
rs768042631	18:33,952,700	C/T	—	likely benign
rs200738813	18:33,952,706	C/A	—	likely benign
rs568231264	18:34,047,833	C/T	—	likely benign
rs534007886	18:34,047,836	C/T	—	likely benign
rs17565834	18:34,081,849	A/G	—	benign
rs140979832	18:34,082,260	G/A	—	benign
rs12454451	18:34,092,327	G/C	—	benign
rs2513917890	18:34,092,405	A/G	—	uncertain significance
rs10153411	18:34,092,635	T/A	—	benign
rs12971276	18:34,094,900	G/T	regulatory region variant	—
rs17651157	18:34,107,452	T/C	intron variant	—
rs12963484	18:34,116,301	C/A	—	—
rs4349223	18:34,121,375	C/A	intron variant	—
rs3947413	18:34,127,234	C/T	intron variant	—
rs76147471	18:34,156,277	C/T	—	benign
rs74599520	18:34,156,278	T/G	—	benign
rs757562148	18:34,156,418	G/C	—	uncertain significance
rs2515726754	18:34,156,459	T/C	—	uncertain significance
rs61735987	18:34,156,497	A/G	—	likely benign
rs78561700	18:34,156,749	C/T	—	benign
rs75033239	18:34,174,437	C/T	—	benign
rs368828885	18:34,174,806	G/A	—	likely benign
rs144223411	18:34,174,816	G/A	—	conflicting classifications of pathogenicity
rs8087763	18:34,174,958	C/T	—	benign
rs368891038	18:34,182,657	A/G	—	uncertain significance
rs375099605	18:34,182,721	T/C	—	uncertain significance
rs34287129	18:34,182,800	A/G	—	benign
rs9953875	18:34,182,834	A/G	—	benign
rs2047272	18:34,182,938	G/A	—	benign
rs372746494	18:34,191,909	T/C	—	benign
rs978486483	18:34,191,927	C/A	—	uncertain significance
rs146804885	18:34,191,951	G/A	—	uncertain significance
rs751568896	18:34,191,957	G/A	—	uncertain significance
rs1174816975	18:34,191,978	G/A	—	uncertain significance
rs61735990	18:34,192,019	G/A	—	benign
rs770559364	18:34,192,029	G/A	—	uncertain significance
rs73948089	18:34,192,087	C/G	—	likely benign
rs77756799	18:34,192,144	A/C	—	benign
rs76432596	18:34,192,160	C/T	—	benign
rs79007131	18:34,193,067	C/A	—	—
rs75989574	18:34,205,245	G/A	—	benign
rs80092711	18:34,205,268	T/C	—	benign
rs78455533	18:34,205,296	G/A	—	benign
rs2644253	18:34,205,385	A/G	—	benign
rs59051454	18:34,205,415	T/C	—	benign
rs200239609	18:34,205,470	C/T	—	likely benign
rs201237691	18:34,205,488	C/G	—	uncertain significance
rs1028485249	18:34,205,516	C/T	—	uncertain significance
rs117005081	18:34,205,520	C/G	—	likely benign
rs149677982	18:34,205,521	C/A	—	benign
rs145455632	18:34,205,525	G/A	—	uncertain significance
rs368210942	18:34,205,526	G/A	—	uncertain significance
rs545624410	18:34,205,532	G/A	—	uncertain significance
rs574004851	18:34,205,537	C/G	—	uncertain significance
rs779383407	18:34,205,538	G/A	—	uncertain significance
rs60414347	18:34,205,551	C/T	—	benign
rs137982690	18:34,205,560	C/T	—	likely benign
rs2517126262	18:34,205,562	G/C	—	uncertain significance
rs968141468	18:34,205,564	G/T	—	uncertain significance
rs760471234	18:34,205,567	G/A	—	uncertain significance
rs960627486	18:34,205,579	C/T	—	uncertain significance
rs751831068	18:34,205,582	G/A	—	uncertain significance
rs750825580	18:34,205,592	G/A	—	uncertain significance
rs754354392	18:34,205,604	G/A	—	uncertain significance
rs747730516	18:34,205,613	C/T	—	uncertain significance
rs546991789	18:34,205,655	C/T	—	conflicting classifications of pathogenicity
rs752224880	18:34,205,672	C/G	—	uncertain significance
rs757057948	18:34,205,688	A/G	—	uncertain significance
rs943103824	18:34,205,692	A/C	—	uncertain significance
rs2517135983	18:34,205,699	G/A	—	uncertain significance
rs2644261	18:34,220,491	T/A	—	—
rs74865195	18:34,229,141	G/T	—	likely benign
rs202191349	18:34,229,142	G/T	—	benign
rs756014266	18:34,229,325	G/A	—	likely benign
rs534901959	18:34,229,330	A/G	—	likely benign
rs112008345	18:34,229,340	G/A	—	uncertain significance
rs2517728868	18:34,229,353	G/C	—	uncertain significance

Showing 100 of 302 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.