SETDB2 SET domain bifurcated histone lysine methyltransferase 2
Gene ID: 83852, updated on 7-Apr-2024Gene type: protein coding
Also known as: CLLD8; CLLL8; KMT1F; C13orf4
- See all available tests in GTR for this gene
- Go to complete Gene record for SETDB2
- Go to Variation Viewer for SETDB2 variants
Summary
This gene encodes a member of a family of proteins that contain a methyl-CpG-binding domain (MBD) and a SET domain and function as histone methyltransferases. This protein is recruited to heterochromatin and plays a role in the regulation of chromosome segregation. This region is commonly deleted in chronic lymphocytic leukemia. Naturally-occuring readthrough transcription occurs from this gene to the downstream PHF11 (PHD finger protein 11) gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Genomic context
- Location:
- 13q14.2
- Sequence:
- Chromosome: 13; NC_000013.11 (49444274..49495003)
- Total number of exons:
- 16
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SETDB2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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