MBD5

methyl-CpG binding domain protein 5

Summary

This gene encodes a member of the methyl-CpG-binding domain (MBD) family. The MBD consists of about 70 residues and is the minimal region required for a methyl-CpG-binding protein binding specifically to methylated DNA. In addition to the MBD domain, this protein contains a PWWP domain (Pro-Trp-Trp-Pro motif), which consists of 100-150 amino acids and is found in numerous proteins that are involved in cell division, growth and differentiation. Mutations in this gene cause an autosomal dominant type of cognitive disability. The encoded protein interacts with the polycomb repressive complex PR-DUB which catalyzes the deubiquitination of a lysine residue of histone 2A. Haploinsufficiency of this gene is associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Alternatively spliced transcript variants have been found, but their full-length nature is not determined. [provided by RefSeq, Jul 2017]

Known Variants1,260 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1057521148	2:148,778,603	A/G	—	likely benign
rs528390918	2:148,778,604	G/A	—	likely benign
rs1057520964	2:148,778,631	C/T	—	likely benign
rs992673818	2:148,779,245	G/A	—	likely benign
rs1057522564	2:148,779,271	G/A	—	likely benign
rs1234398	2:148,788,435	T/C	intron variant	—
rs1234418	2:148,794,288	G/A	intron variant	—
rs12992231	2:148,799,710	C/G	—	—
rs13032786	2:148,803,672	C/T	—	—
rs191280542	2:148,844,323	G/T	intron variant	—
rs12469509	2:148,853,100	T/G	—	—
rs202220108	2:148,910,423	A/T	—	—
rs1901013	2:148,931,461	C/T	intron variant	—
rs12465610	2:148,936,180	A/C	—	benign
rs1293921044	2:148,936,266	T/C	—	likely benign
rs13395141	2:148,955,901	C/T	intron variant	—
rs12994607	2:148,956,584	T/C	intron variant	—
rs186186684	2:148,990,815	A/G	—	benign
rs1050579064	2:148,990,818	A/G	—	likely benign
rs1057523808	2:148,990,951	A/G	—	likely benign
rs748989182	2:149,099,799	C/T	—	likely benign
rs888498386	2:149,099,802	A/C	—	likely benign
rs1553503044	2:149,099,911	C/A	—	likely benign
rs79508062	2:149,100,009	G/A	—	likely benign
rs35177340	2:149,100,102	A/T	—	benign
rs2602352	2:149,100,152	T/C	—	benign
rs140968376	2:149,215,764	T/C	—	likely benign
rs2469777230	2:149,216,328	A/G	—	likely pathogenic
rs794727807	2:149,216,335	G/T	—	uncertain significance
rs2469777399	2:149,216,343	G/C	—	uncertain significance
rs762318711	2:149,216,345	G/A	—	likely benign
rs766104877	2:149,216,346	T/A	—	conflicting classifications of pathogenicity
rs751181406	2:149,216,351	C/T	—	likely benign
rs143952512	2:149,216,352	G/C	—	conflicting classifications of pathogenicity
rs2469777558	2:149,216,354	A/T	—	likely benign
rs1706964102	2:149,216,355	G/A	—	uncertain significance
rs1360980312	2:149,216,357	G/A	—	likely benign
rs756615692	2:149,216,359	A/G	—	conflicting classifications of pathogenicity
rs1706964591	2:149,216,367	G/A	—	uncertain significance
rs749436847	2:149,216,373	C/A	—	likely benign
rs1706964965	2:149,216,377	C/T	—	uncertain significance
rs1559080667	2:149,216,382	A/G	—	uncertain significance
rs757256547	2:149,216,384	A/G	—	uncertain significance
rs1057522537	2:149,216,387	A/G	—	conflicting classifications of pathogenicity
rs2469777952	2:149,216,391	C/T	—	uncertain significance
rs1706965681	2:149,216,393	T/C	—	likely benign
rs151204004	2:149,216,396	G/A	—	conflicting classifications of pathogenicity
rs2105537073	2:149,216,397	G/T	—	uncertain significance
rs2469778064	2:149,216,401	G/A	—	pathogenic
rs1553517456	2:149,216,402	G/A	—	pathogenic
rs2469778111	2:149,216,403	C/T	—	pathogenic
rs1706965994	2:149,216,407	G/A	—	conflicting classifications of pathogenicity
rs746075256	2:149,216,408	T/C	—	likely benign
rs772364272	2:149,216,409	C/T	—	conflicting classifications of pathogenicity
rs201699340	2:149,216,410	G/A	—	uncertain significance
rs1057522320	2:149,216,429	G/T	—	likely benign
rs1201462027	2:149,216,430	C/A	—	uncertain significance
rs747911147	2:149,216,436	G/A	—	benign
rs201821636	2:149,216,444	A/G	—	likely benign
rs2469778466	2:149,216,445	G/A	—	uncertain significance
rs886054908	2:149,216,448	C/A	—	likely benign
rs1313785203	2:149,216,449	T/G	—	likely benign
rs759575165	2:149,216,454	A/G	—	likely benign
rs10928397	2:149,216,661	G/A	—	benign
rs13402768	2:149,219,983	G/T	—	benign
rs778873825	2:149,220,131	T/G	—	likely benign
rs745877259	2:149,220,132	T/G	—	likely benign
rs2469807604	2:149,220,142	T/G	—	uncertain significance
rs2105571139	2:149,220,148	C/T	—	uncertain significance
rs1574451881	2:149,220,149	A/T	—	likely pathogenic
rs2469807730	2:149,220,170	T/A	—	uncertain significance
rs139186486	2:149,220,173	T/C	—	uncertain significance
rs2469807780	2:149,220,175	C/T	—	uncertain significance
rs796958008	2:149,220,193	A/G	—	likely benign
rs2469807973	2:149,220,199	G/C	—	likely benign
rs2105571487	2:149,220,200	C/G	—	uncertain significance
rs1707126434	2:149,220,208	T/C	—	likely benign
rs2469808020	2:149,220,209	G/A	—	uncertain significance
rs2105571544	2:149,220,217	C/A	—	pathogenic
rs140522551	2:149,220,220	G/A	—	likely benign
rs1707127066	2:149,220,226	C/T	—	likely benign
rs1480609393	2:149,220,232	A/G	—	likely benign
rs2105571649	2:149,220,235	T/C	—	likely benign
rs2469808266	2:149,220,236	C/T	—	uncertain significance
rs749163361	2:149,220,242	A/G	—	conflicting classifications of pathogenicity
rs770840755	2:149,220,248	C/T	—	likely benign
rs759004187	2:149,220,268	A/G	—	likely benign
rs111722958	2:149,220,301	T/A	—	benign
rs377517776	2:149,221,292	G/C	—	likely benign
rs1707171202	2:149,221,307	G/C	—	pathogenic
rs2105581271	2:149,221,315	A/G	—	uncertain significance
rs34995577	2:149,221,327	G/A	—	conflicting classifications of pathogenicity
rs780463077	2:149,221,335	G/T	—	uncertain significance
rs1559083055	2:149,221,338	A/G	—	uncertain significance
rs2105581444	2:149,221,344	A/C	—	likely benign
rs542137271	2:149,221,349	C/T	—	conflicting classifications of pathogenicity
rs755990856	2:149,221,350	G/A	—	uncertain significance
rs1385855105	2:149,221,355	A/G	—	likely benign
rs2469818340	2:149,221,357	A/G	—	uncertain significance
rs143333632	2:149,221,358	T/C	—	likely benign

Showing 100 of 1,260 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.