DNMT3B DNA methyltransferase 3 beta
Gene ID: 1789, updated on 2-Nov-2024Gene type: protein coding
Also known as: ICF; ICF1; FSHD4; M.HsaIIIB
- See all available tests in GTR for this gene
- Go to complete Gene record for DNMT3B
- Go to Variation Viewer for DNMT3B variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Facioscapulohumeral muscular dystrophy 4, digenic | See labs |
| Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits. GeneReviews: Not available | |
| Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. GeneReviews: Not available | |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | See labs |
Genomic context
- Location:
- 20q11.21
- Sequence:
- Chromosome: 20; NC_000020.11 (32762385..32809356)
- Total number of exons:
- 24
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DNMT3B variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- DNMT3Bbase: Mutation registry for ICF syndrome
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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