CAPN10

calpain 10

Summary

Calpains represent a ubiquitous, well-conserved family of calcium-dependent cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large catalytic subunit has four domains: domain I, the N-terminal regulatory domain that is processed upon calpain activation; domain II, the protease domain; domain III, a linker domain of unknown function; and domain IV, the calmodulin-like calcium-binding domain. This gene encodes a large subunit. It is an atypical calpain in that it lacks the calmodulin-like calcium-binding domain and instead has a divergent C-terminal domain. It is similar in organization to calpains 5 and 6. This gene is associated with type 2 or non-insulin-dependent diabetes mellitus (NIDDM), and is located within the NIDDM1 region. Multiple alternative transcript variants have been described for this gene. [provided by RefSeq, Sep 2010]

Known Variants93 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs56244291	2:241,526,167	G/C	—	—
rs2093071654	2:241,526,353	C/T	—	uncertain significance
rs138005500	2:241,526,428	C/G	—	benign
rs2536241244	2:241,526,453	C/T	—	uncertain significance
rs1267221494	2:241,526,464	C/T	—	uncertain significance
rs142471367	2:241,528,766	T/C	—	uncertain significance
rs756667300	2:241,528,805	G/A	—	uncertain significance
rs777811694	2:241,528,856	G/A	—	uncertain significance
rs145259832	2:241,528,861	G/A	—	likely benign
rs904376200	2:241,530,251	C/T	—	uncertain significance
rs368742220	2:241,530,311	G/A	—	likely benign
rs750507423	2:241,530,337	C/T	—	uncertain significance
rs151024127	2:241,530,373	C/T	—	uncertain significance
rs770374333	2:241,530,374	G/A	—	uncertain significance
rs749761334	2:241,530,387	G/C	—	uncertain significance
rs370194049	2:241,530,417	G/A	—	likely benign
rs150614251	2:241,530,423	C/T	—	likely benign
rs371403663	2:241,530,424	G/A	—	uncertain significance
rs2975760	2:241,531,163	T/C	intron variant	risk factor
rs3792267	2:241,531,174	G/A	intron variant	risk factor
rs368964748	2:241,531,355	A/G	—	uncertain significance
rs140653709	2:241,531,365	C/T	—	likely benign
rs3792268	2:241,531,477	C/A	—	benign
rs3792269	2:241,531,479	A/G	—	benign
rs775701945	2:241,531,483	C/A	—	uncertain significance
rs768407925	2:241,531,484	G/A	—	uncertain significance
rs2536259940	2:241,531,523	A/G	—	uncertain significance
rs369247221	2:241,531,531	T/C	—	uncertain significance
rs2536260143	2:241,531,559	C/T	—	uncertain significance
rs769393197	2:241,533,340	G/C	—	uncertain significance
rs13007017	2:241,533,345	T/C	—	benign
rs548715768	2:241,533,386	A/G	—	likely benign
rs1009002311	2:241,533,390	G/A	—	likely benign
rs1168246191	2:241,533,402	C/T	—	likely benign
rs150113284	2:241,533,462	G/A	—	benign
rs757301434	2:241,533,964	G/A	—	uncertain significance
rs144696781	2:241,534,002	G/T	—	uncertain significance
rs2536269712	2:241,534,058	G/A	—	uncertain significance
rs140681762	2:241,534,088	C/T	—	likely benign
rs201300160	2:241,534,089	G/A	—	uncertain significance
rs145787041	2:241,534,095	G/A	—	likely benign
rs748401959	2:241,534,459	C/T	—	uncertain significance
rs200682095	2:241,534,462	G/A	—	likely benign
rs182758984	2:241,534,471	C/T	—	uncertain significance
rs371277139	2:241,534,483	T/C	—	uncertain significance
rs202008025	2:241,534,521	G/A	—	uncertain significance
rs11556468	2:241,534,609	C/T	—	uncertain significance
rs41266977	2:241,534,613	G/A	—	likely benign
rs138959181	2:241,534,626	C/T	—	uncertain significance
rs780165677	2:241,534,627	G/A	—	uncertain significance
rs377409925	2:241,534,631	C/T	—	likely benign
rs760362038	2:241,534,660	C/T	—	uncertain significance
rs766511704	2:241,534,710	C/T	—	uncertain significance
rs201807668	2:241,535,749	G/A	—	uncertain significance
rs980412388	2:241,535,761	C/T	—	uncertain significance
rs529302384	2:241,535,798	G/A	—	likely benign
rs918695213	2:241,535,807	A/T	—	likely benign
rs771284091	2:241,535,814	C/T	—	uncertain significance
rs184439941	2:241,535,835	G/A	—	benign
rs114535069	2:241,535,877	C/A	—	benign
rs148303768	2:241,535,886	G/A	—	benign
rs368588347	2:241,535,888	G/A	—	benign
rs201984748	2:241,535,908	G/C	—	uncertain significance
rs534379076	2:241,535,922	G/A	—	uncertain significance
rs1042843275	2:241,536,120	A/G	—	uncertain significance
rs7607759	2:241,536,126	A/G	—	benign
rs200361959	2:241,536,147	G/A	—	likely benign
rs370128354	2:241,536,149	G/A	—	likely benign
rs762746164	2:241,536,175	G/A	—	likely benign
rs761495953	2:241,536,196	A/G	—	uncertain significance
rs767033655	2:241,536,199	C/A	—	uncertain significance
rs377630733	2:241,536,256	C/T	—	uncertain significance
rs17846979	2:241,536,263	C/T	—	likely benign
rs201157354	2:241,536,279	C/T	—	likely benign
rs747049929	2:241,536,285	G/A	—	uncertain significance
rs200753424	2:241,536,313	G/A	—	likely benign
rs139964868	2:241,536,326	C/T	—	benign
rs1175724176	2:241,536,336	C/G	—	uncertain significance
rs747902580	2:241,536,339	A/G	—	uncertain significance
rs114120181	2:241,537,306	T/C	—	benign
rs774748418	2:241,537,337	C/T	—	likely benign
rs368540986	2:241,537,386	G/A	—	uncertain significance
rs146148004	2:241,537,399	G/A	—	likely benign
rs149857900	2:241,537,410	C/T	—	uncertain significance
rs765286984	2:241,537,447	C/T	—	uncertain significance
rs774894214	2:241,537,456	C/T	—	uncertain significance
rs767456254	2:241,537,477	C/T	—	uncertain significance
rs749508712	2:241,537,759	C/G	—	likely benign
rs371891730	2:241,537,776	A/G	—	uncertain significance
rs2536286549	2:241,537,815	G/A	—	pathogenic
rs55878652	2:241,538,061	T/C	—	benign
rs2975766	2:241,538,074	A/G	missense variant	—
rs5030952	2:241,542,703	C/T	downstream gene variant	risk factor

Gene information from NCBI Gene. Variant classifications from ClinVar.