MBD4 Chromosome 3

Methyl-CpG binding domain 4, DNA glycosylase
63 variants 63 Health Risk

Upload your DNA to see your personal genotypes for variants in MBD4.

What This Gene Does
The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains an MBD domain at the N-terminus that functions both in binding to methylated DNA and in protein interactions and a C-terminal mismatch-specific glycosylase domain that is involved in DNA repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]
Gene Info
Gene Group
"DNA glycosylases|Methyl-CpG binding domain containing"
Locus Type
gene with protein product
Location
3q21.3
Ensembl
ENSG00000129071
Associated Conditions (15)
Inborn genetic diseases
Tumor predisposition syndrome 2
Melanoma
uveal
susceptibility to
1
Malignant lymphoma
large B-cell
diffuse
MBD4-related disorder
Hereditary cancer-predisposing syndrome
Familial pancreatic carcinoma
Nonpapillary renal cell carcinoma
Uveal melanoma
Ovarian serous cystadenocarcinoma
Key Variants
All Variants (63)
RSID Category Clinical Significance Conditions
RS1169081738 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1172744855 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Tumor predisposition syndrome 2, Inborn genetic diseases
RS1382516356 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140696334 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148098584 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 2, Inborn genetic diseases, Inborn genetic diseases
RS148464573 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Melanoma, uveal
RS149311534 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150778761 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS183820888 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199597858 Health Risk Conflicting classifications of pathogenicity Malignant lymphoma, large B-cell, diffuse
RS200224645 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200883484 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2072470933 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2307293 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372593697 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373196573 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS376818323 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS554600762 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS61753468 Health Risk Conflicting classifications of pathogenicity MBD4-related disorder, Inborn genetic diseases, MBD4-related disorder
RS750161314 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751629274 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753595466 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754962799 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755035506 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757137642 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758035705 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Inborn genetic diseases, Hereditary cancer-predisposing syndrome
RS764948774 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766007056 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766496861 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776851968 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS78782061 Health Risk Conflicting classifications of pathogenicity MBD4-related disorder, Inborn genetic diseases, Familial pancreatic carcinoma
RS886467526 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS980127539 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS552296498 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1159509898 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1242455927 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1270271346 Health Risk Pathogenic Inborn genetic diseases, Tumor predisposition syndrome 2, Inborn genetic diseases
RS1443006605 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1559801181 Health Risk Pathogenic Tumor predisposition syndrome 2, Inborn genetic diseases, Inborn genetic diseases
RS2072472677 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2072496202 Health Risk Pathogenic Tumor predisposition syndrome 2, Inborn genetic diseases, Tumor predisposition syndrome 2
RS2530705988 Health Risk Pathogenic
RS2530717054 Health Risk Pathogenic
RS2530717576 Health Risk Pathogenic
RS2530719210 Health Risk Pathogenic
RS2530722871 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2530727286 Health Risk Pathogenic
RS34275677 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS754769076 Health Risk Pathogenic Inborn genetic diseases, Tumor predisposition syndrome 2, Inborn genetic diseases
RS765744560 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
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