DNMT3B Chromosome 20
DNA methyltransferase 3 beta
Upload your DNA to see your personal genotypes for variants in DNMT3B.
What This Gene Does
CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]
Gene Info
Gene Group
"PWWP domain containing|7BS C5-cytosine DNA/RNA methyltransferases|DNA/RNA methyltransferases"
Locus Type
gene with protein product
Location
20q11.21
Ensembl
ENSG00000088305
Associated Conditions (10)
Centromeric instability of chromosomes 1
9 and 16 and immunodeficiency
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
Inborn genetic diseases
Kabuki syndrome 1
DNMT3B-related disorder
Facioscapulohumeral muscular dystrophy 4
digenic
See cases
Colon adenocarcinoma
Key Variants
RS111877243
Conflicting classifications of pathogenicity
Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency, Immunodeficiency-centromeric instability-facial anomalies syndrome 1
Health Risk
RS138596278
Conflicting classifications of pathogenicity
Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency, Centromeric instability of chromosomes 1
Health Risk
RS138805251
Conflicting classifications of pathogenicity
Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency, Immunodeficiency-centromeric instability-facial anomalies syndrome 1
Health Risk
RS139777286
Conflicting classifications of pathogenicity
Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency, Inborn genetic diseases
Health Risk
RS140518698
Conflicting classifications of pathogenicity
Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
Health Risk
RS140714949
Conflicting classifications of pathogenicity
Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
Health Risk
RS143448185
Conflicting classifications of pathogenicity
Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
Health Risk
RS143462810
Conflicting classifications of pathogenicity
Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
Health Risk
RS143847495
Conflicting classifications of pathogenicity
Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency, Immunodeficiency-centromeric instability-facial anomalies syndrome 1
Health Risk
RS145632647
Conflicting classifications of pathogenicity
Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency, Immunodeficiency-centromeric instability-facial anomalies syndrome 1
Health Risk
RS146299831
Conflicting classifications of pathogenicity
Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
Health Risk
RS147402935
Conflicting classifications of pathogenicity
Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
Health Risk
All Variants (85)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1219696128 | Health Risk | Likely pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency |
| RS2146098171 | Health Risk | Likely pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Immunodeficiency-centromeric instability-facial anomalies syndrome 1 |
| RS2515519487 | Health Risk | Likely pathogenic | Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency, Centromeric instability of chromosomes 1 |
| RS2515523115 | Health Risk | Likely pathogenic | Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency, Centromeric instability of chromosomes 1 |
| RS2515644807 | Health Risk | Likely pathogenic | Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency, Centromeric instability of chromosomes 1 |
| RS2515648455 | Health Risk | Likely pathogenic | Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency, Centromeric instability of chromosomes 1 |
| RS2515657453 | Health Risk | Likely pathogenic | Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency, Centromeric instability of chromosomes 1 |
| RS768347895 | Health Risk | Likely pathogenic | Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency, Centromeric instability of chromosomes 1 |
| RS121908939 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Immunodeficiency-centromeric instability-facial anomalies syndrome 1 |
| RS121908940 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency |
| RS121908942 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Immunodeficiency-centromeric instability-facial anomalies syndrome 1 |
| RS121908944 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Immunodeficiency-centromeric instability-facial anomalies syndrome 1 |
| RS121908945 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Immunodeficiency-centromeric instability-facial anomalies syndrome 1 |
| RS121908947 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Immunodeficiency-centromeric instability-facial anomalies syndrome 1 |
| RS1568857280 | Health Risk | Pathogenic | Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency, Centromeric instability of chromosomes 1 |
| RS1978602545 | Health Risk | Pathogenic | Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency, Centromeric instability of chromosomes 1 |
| RS1979652729 | Health Risk | Pathogenic | Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency, Centromeric instability of chromosomes 1 |
| RS1981470800 | Health Risk | Pathogenic | Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency, Centromeric instability of chromosomes 1 |
| RS2145960216 | Health Risk | Pathogenic | Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency, Centromeric instability of chromosomes 1 |
| RS2145982663 | Health Risk | Pathogenic | Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency, Centromeric instability of chromosomes 1 |
| RS2146029958 | Health Risk | Pathogenic | Facioscapulohumeral muscular dystrophy 4, digenic, Facioscapulohumeral muscular dystrophy 4 |
| RS2146082310 | Health Risk | Pathogenic | Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency, Centromeric instability of chromosomes 1 |
| RS2515536377 | Health Risk | Pathogenic | Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency, Centromeric instability of chromosomes 1 |
| RS2515610149 | Health Risk | Pathogenic | Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency, Centromeric instability of chromosomes 1 |
| RS745507181 | Health Risk | Pathogenic | Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency, Centromeric instability of chromosomes 1 |
| RS760640013 | Health Risk | Pathogenic | Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency, Centromeric instability of chromosomes 1 |
| RS766541836 | Health Risk | Pathogenic | Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency, Centromeric instability of chromosomes 1 |
| RS775949142 | Health Risk | Pathogenic | Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency, Centromeric instability of chromosomes 1 |
| RS867732105 | Health Risk | Pathogenic | Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency, Centromeric instability of chromosomes 1 |
| RS121908941 | Health Risk | Pathogenic/Likely pathogenic | Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency, Immunodeficiency-centromeric instability-facial anomalies syndrome 1 |
| RS121908943 | Health Risk | Pathogenic/Likely pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency |
| RS1368779496 | Health Risk | Pathogenic/Likely pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency |
| RS1438362757 | Health Risk | Pathogenic/Likely pathogenic | Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency, Centromeric instability of chromosomes 1 |
| RS201579632 | Health Risk | Pathogenic/Likely pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency |
| RS547940069 | Health Risk | Pathogenic/Likely pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency |