MECP2

methyl-CpG binding protein 2

Summary

DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of cognitive disability in females. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]

Known Variants925 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs267608391	X:153,287,318	G/C	—	uncertain significance
rs3027915	X:153,287,962	T/G	—	benign
rs3027917	X:153,288,070	G/A	—	benign
rs267608368	X:153,289,979	G/A	—	likely benign
rs267608346	X:153,290,470	A/G	—	likely benign
rs3027920	X:153,291,242	T/G	—	benign
rs148230889	X:153,291,940	C/G	—	benign
rs267608366	X:153,292,156	T/C	—	benign
rs267608359	X:153,292,160	G/A	—	benign
rs2734647	X:153,292,180	T/C	downstream gene variant	benign
rs56036177	X:153,292,341	C/T	—	benign
rs267608358	X:153,292,862	C/T	—	benign
rs267608357	X:153,293,112	C/T	—	likely benign
rs3027921	X:153,293,161	C/T	—	benign
rs267608356	X:153,293,262	A/T	—	benign
rs3027922	X:153,294,081	C/T	—	benign
rs267608355	X:153,294,450	G/T	—	likely benign
rs267608365	X:153,294,581	A/G	—	benign
rs267608390	X:153,294,684	C/T	—	uncertain significance
rs190425483	X:153,294,709	A/G	—	likely benign
rs3027924	X:153,294,940	G/C	—	benign
rs187614438	X:153,294,957	A/C	—	benign
rs190920575	X:153,294,987	C/G	—	likely benign
rs182344920	X:153,294,988	C/T	—	likely benign
rs185146054	X:153,294,998	C/A	—	likely benign
rs1382266663	X:153,295,007	C/G	—	likely benign
rs190249595	X:153,295,008	C/A	—	benign
rs267608363	X:153,295,012	C/T	—	likely benign
rs1007860424	X:153,295,014	G/C	—	likely benign
rs1286128720	X:153,295,023	C/G	—	likely benign
rs1031352051	X:153,295,024	C/G	—	likely benign
rs782328653	X:153,295,031	C/T	—	likely benign
rs183441961	X:153,295,046	C/T	—	likely benign
rs267608354	X:153,295,051	C/A	—	uncertain significance
rs267608353	X:153,295,264	C/T	—	benign
rs183349022	X:153,295,274	C/T	—	benign
rs267608362	X:153,295,289	C/A	—	benign
rs111565519	X:153,295,329	C/G	—	benign
rs267608325	X:153,295,331	C/G	—	benign
rs267608361	X:153,295,425	C/T	—	benign
rs187851059	X:153,295,447	C/G	—	likely benign
rs62621675	X:153,295,455	C/G	—	benign
rs62621674	X:153,295,459	C/G	—	benign
rs62621673	X:153,295,490	C/T	—	benign
rs267608352	X:153,295,614	C/T	—	uncertain significance
rs267608345	X:153,295,641	C/G	—	benign
rs73627291	X:153,295,662	C/A	—	benign
rs267608326	X:153,295,725	C/T	—	benign
rs62621672	X:153,295,726	G/C	—	uncertain significance
rs267608344	X:153,295,763	G/C	—	benign
rs267608347	X:153,295,782	C/G	—	likely benign
rs1057520854	X:153,295,802	T/C	—	likely benign
rs199963992	X:153,295,804	C/T	—	benign
rs782334844	X:153,295,805	G/A	—	likely benign
rs370633265	X:153,295,808	C/T	—	likely benign
rs144008995	X:153,295,809	C/A	—	uncertain significance
rs267608330	X:153,295,810	G/A	—	benign
rs782579028	X:153,295,814	A/G	—	likely benign
rs781782964	X:153,295,817	G/C	—	likely benign
rs267608642	X:153,295,818	T/C	—	pathogenic
rs267608399	X:153,295,819	C/A	—	likely pathogenic
rs267608337	X:153,295,820	A/G	—	likely pathogenic
rs782487090	X:153,295,826	C/G	—	likely benign
rs267608370	X:153,295,828	C/G	—	likely benign
rs267608336	X:153,295,830	C/T	—	conflicting classifications of pathogenicity
rs587777421	X:153,295,832	C/A	—	uncertain significance
rs76895094	X:153,295,833	G/A	—	likely benign
rs1469603759	X:153,295,836	C/T	—	likely benign
rs193922678	X:153,295,838	C/T	missense variant	pathogenic
rs782677867	X:153,295,839	G/A	—	likely benign
rs782276348	X:153,295,840	G/A	—	uncertain significance
rs267608636	X:153,295,841	G/A	—	benign
rs587781033	X:153,295,842	C/T	—	likely benign
rs267608635	X:153,295,843	G/A	—	likely benign
rs145790362	X:153,295,846	C/T	—	likely benign
rs1214690328	X:153,295,847	G/T	—	likely benign
rs2522035723	X:153,295,848	G/A	—	likely benign
rs267608328	X:153,295,849	C/G	—	likely benign
rs2522035846	X:153,295,856	C/G	—	uncertain significance
rs1557134910	X:153,295,857	A/G	—	likely benign
rs75498268	X:153,295,860	C/G	—	benign
rs782115829	X:153,295,862	C/G	—	uncertain significance
rs2148658484	X:153,295,863	C/G	—	benign
rs1057520310	X:153,295,867	C/G	—	uncertain significance
rs1270065515	X:153,295,870	T/A	—	uncertain significance
rs2522036475	X:153,295,873	G/A	—	uncertain significance
rs267608633	X:153,295,875	C/T	—	likely benign
rs2065902151	X:153,295,876	C/G	—	benign
rs782042904	X:153,295,879	G/C	—	uncertain significance
rs2522036958	X:153,295,886	A/G	—	uncertain significance
rs2065902468	X:153,295,888	G/A	—	likely benign
rs2065902574	X:153,295,892	A/G	—	uncertain significance
rs2065902668	X:153,295,896	A/G	—	likely benign
rs782747061	X:153,295,901	C/A	—	uncertain significance
rs1557134964	X:153,295,903	T/C	—	uncertain significance
rs781825661	X:153,295,905	G/A	—	likely benign
rs185957513	X:153,295,906	C/T	—	likely benign
rs267608628	X:153,295,907	G/A	—	likely benign
rs2522037708	X:153,295,910	C/T	—	uncertain significance
rs1557134980	X:153,295,912	C/A	—	uncertain significance

Showing 100 of 925 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.