CCND2

cyclin D2

Summary

The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with CDK4 or CDK6 and functions as a regulatory subunit of the complex, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. Knockout studies of the homologous gene in mouse suggest the essential roles of this gene in ovarian granulosa and germ cell proliferation. High level expression of this gene was observed in ovarian and testicular tumors. Mutations in this gene are associated with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MPPH3). [provided by RefSeq, Sep 2014]

Known Variants110 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs3217783	12:4,382,599	A/G	—	benign
rs1049606	12:4,383,036	C/T	regulatory region variant	benign
rs3217786	12:4,383,158	T/C	—	benign
rs3217787	12:4,383,171	G/T	—	benign
rs2120512946	12:4,383,215	G/A	—	likely benign
rs776260684	12:4,383,231	G/T	—	uncertain significance
rs371641860	12:4,383,239	C/T	—	likely benign
rs778986120	12:4,383,294	C/A	—	uncertain significance
rs772187536	12:4,383,300	A/G	—	conflicting classifications of pathogenicity
rs2120513661	12:4,383,306	G/C	—	uncertain significance
rs2497479820	12:4,383,319	T/G	—	uncertain significance
rs146122734	12:4,383,320	T/G	—	likely benign
rs1381873492	12:4,383,418	C/A	—	likely benign
rs114215980	12:4,383,670	A/C	—	likely benign
rs3217791	12:4,384,669	C/G	—	—
rs75088331	12:4,385,067	A/T	—	likely benign
rs770583513	12:4,385,140	G/C	—	likely benign
rs765683372	12:4,385,152	T/C	—	likely benign
rs1283790151	12:4,385,164	A/C	—	likely benign
rs2120522349	12:4,385,170	G/A	—	uncertain significance
rs755257315	12:4,385,197	A/G	—	likely benign
rs2120522591	12:4,385,206	C/T	—	likely benign
rs560009483	12:4,385,209	T/A	—	likely benign
rs2120522991	12:4,385,283	C/T	—	uncertain significance
rs762132499	12:4,385,319	C/T	—	uncertain significance
rs766500677	12:4,385,327	C/A	—	uncertain significance
rs1591643892	12:4,385,332	C/T	—	likely benign
rs184590007	12:4,385,356	C/G	—	likely benign
rs372384965	12:4,385,393	A/T	—	likely benign
rs114666303	12:4,387,818	C/T	—	likely benign
rs2497491292	12:4,387,955	G/A	—	uncertain significance
rs199719393	12:4,387,969	C/A	—	conflicting classifications of pathogenicity
rs775067994	12:4,388,007	C/T	—	uncertain significance
rs759672856	12:4,388,008	G/A	—	uncertain significance
rs201241721	12:4,388,018	C/G	—	likely benign
rs2497491398	12:4,388,023	A/G	—	uncertain significance
rs367874736	12:4,388,026	G/A	—	uncertain significance
rs1214131321	12:4,388,036	G/A	—	likely benign
rs143681287	12:4,388,038	C/G	—	likely benign
rs1488421614	12:4,388,046	C/T	—	uncertain significance
rs2120532136	12:4,388,058	C/T	—	uncertain significance
rs751104155	12:4,388,073	C/G	—	uncertain significance
rs1417189054	12:4,388,080	C/T	—	uncertain significance
rs3217805	12:4,388,084	C/G	—	benign
rs377079073	12:4,388,103	C/T	—	likely benign
rs371529512	12:4,388,105	G/A	—	likely benign
rs3217806	12:4,388,142	G/A	—	likely benign
rs3217809	12:4,388,253	A/G	—	likely benign
rs3217810	12:4,388,271	C/T	upstream gene variant	benign
rs3217811	12:4,388,324	A/C	—	likely benign
rs3217833	12:4,393,474	A/T	—	—
rs919504453	12:4,394,477	C/T	—	uncertain significance
rs3217851	12:4,397,706	T/A	—	benign
rs3217852	12:4,397,766	G/C	—	benign
rs1864058281	12:4,397,991	C/T	—	likely benign
rs567626308	12:4,398,004	G/T	—	likely benign
rs1864058667	12:4,398,024	G/A	—	uncertain significance
rs1864058731	12:4,398,029	C/G	—	uncertain significance
rs2497507799	12:4,398,030	A/G	—	likely benign
rs747054950	12:4,398,033	G/A	—	likely benign
rs199552192	12:4,398,042	C/T	—	likely benign
rs2497507865	12:4,398,047	C/G	—	uncertain significance
rs2497507871	12:4,398,050	G/C	—	uncertain significance
rs762849458	12:4,398,101	C/T	—	uncertain significance
rs375356578	12:4,398,123	T/G	—	likely benign
rs139239250	12:4,398,138	G/A	—	likely benign
rs184042055	12:4,398,450	T/C	—	likely benign
rs3217869	12:4,399,970	G/C	—	—
rs3217901	12:4,405,389	A/G	intron variant	—
rs3217917	12:4,408,707	A/T	—	likely benign
rs3217919	12:4,408,917	C/T	—	likely benign
rs1467177053	12:4,409,015	C/T	—	likely benign
rs2120593078	12:4,409,047	G/A	—	uncertain significance
rs149961693	12:4,409,052	G/T	—	uncertain significance
rs781695497	12:4,409,060	C/A	—	uncertain significance
rs145050894	12:4,409,061	G/A	—	likely benign
rs1555089162	12:4,409,068	C/A	—	uncertain significance
rs1225460078	12:4,409,079	G/C	—	uncertain significance
rs2120593241	12:4,409,080	C/T	—	uncertain significance
rs142170178	12:4,409,090	G/A	—	likely benign
rs1864224611	12:4,409,098	C/T	—	pathogenic
rs199959738	12:4,409,106	C/G	—	uncertain significance
rs3217921	12:4,409,107	G/C	—	uncertain significance
rs886804797	12:4,409,111	C/T	—	uncertain significance
rs587777619	12:4,409,113	A/T	stop gained	pathogenic
rs776036883	12:4,409,117	C/A	—	likely pathogenic
rs1477693311	12:4,409,119	G/T	—	pathogenic
rs2120593520	12:4,409,131	G/A	—	uncertain significance
rs1864225645	12:4,409,134	C/T	—	likely pathogenic
rs587777618	12:4,409,143	A/G	missense variant	pathogenic
rs587777620	12:4,409,144	C/T	missense variant	pathogenic
rs587777621	12:4,409,146	C/G	missense variant	pathogenic
rs587777622	12:4,409,147	C/G	missense variant	pathogenic
rs753148745	12:4,409,154	C/T	—	likely benign
rs777786993	12:4,409,156	T/A	missense variant	pathogenic
rs1199912313	12:4,409,158	C/G	—	uncertain significance
rs753881524	12:4,409,159	G/A	—	uncertain significance
rs2497527687	12:4,409,163	T/G	—	uncertain significance
rs2120593698	12:4,409,165	T/G	—	uncertain significance
rs369380641	12:4,409,211	A/C	—	likely benign

Showing 100 of 110 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.