MBD4 Chromosome 3
Methyl-CpG binding domain 4, DNA glycosylase
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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
RS1169081738
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1172744855
Conflicting classifications of pathogenicity
Inborn genetic diseases, Tumor predisposition syndrome 2, Inborn genetic diseases
Health Risk
RS1382516356
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140696334
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148098584
Conflicting classifications of pathogenicity
Tumor predisposition syndrome 2, Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148464573
Conflicting classifications of pathogenicity
Inborn genetic diseases, Melanoma, uveal
Health Risk
RS149311534
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS150778761
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS183820888
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199597858
Conflicting classifications of pathogenicity
Malignant lymphoma, large B-cell, diffuse
Health Risk
RS200224645
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200883484
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (63)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS769076971 | Health Risk | Pathogenic | MBD4-related disorder, Inborn genetic diseases, Tumor predisposition syndrome 2 |
| RS769552413 | Health Risk | Pathogenic | MBD4-related disorder, MBD4-related disorder |
| RS772389783 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS897132425 | Health Risk | Pathogenic | MBD4-related disorder, Inborn genetic diseases, MBD4-related disorder |
| RS962932495 | Health Risk | Pathogenic | — |
| RS1198503871 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1559798261 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS200758755 | Health Risk | Pathogenic/Likely pathogenic | Melanoma, uveal, susceptibility to |
| RS558765093 | Health Risk | Pathogenic/Likely pathogenic | Tumor predisposition syndrome 2, Melanoma, uveal |
| RS758351838 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Tumor predisposition syndrome 2, Inborn genetic diseases |
| RS772744105 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS778697654 | Health Risk | Pathogenic/Likely pathogenic | Melanoma, uveal, susceptibility to |
| RS886358737 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Tumor predisposition syndrome 2, Inborn genetic diseases |