Human Gene SETDB2 (ENST00000354234.8) from GENCODE V44
Description: Homo sapiens SET domain bifurcated histone lysine methyltransferase 2 (SETDB2), transcript variant 1, mRNA. (from RefSeq NM_031915) RefSeq Summary (NM_031915): 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]. Gencode Transcript: ENST00000354234.8 Gencode Gene: ENSG00000136169.17 Transcript (Including UTRs) Position: hg38 chr13:49,444,374-49,495,003 Size: 50,630 Total Exon Count: 15 Strand: + Coding Region Position: hg38 chr13:49,451,894-49,491,849 Size: 39,956 Coding Exon Count: 14
ID:SETB2_HUMAN DESCRIPTION: RecName: Full=Histone-lysine N-methyltransferase SETDB2; EC=2.1.1.43; AltName: Full=Chronic lymphocytic leukemia deletion region gene 8 protein; AltName: Full=Lysine N-methyltransferase 1F; AltName: Full=SET domain bifurcated 2; FUNCTION: Histone methyltransferase involved in left-right axis specification in early development and mitosis. Specifically trimethylates 'Lys-9' of histone H3 (H3K9me3). H3K9me3 is a specific tag for epigenetic transcriptional repression that recruits HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Contributes to H3K9me3 in both the interspersed repetitive elements and centromere-associated repeats. Plays a role in chromosome condensation and segregation during mitosis. CATALYTIC ACTIVITY: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone]. SUBCELLULAR LOCATION: Nucleus. Chromosome (Probable). TISSUE SPECIFICITY: Ubiquitous. Highest expression in heart, testis and ovary. SIMILARITY: Belongs to the histone-lysine methyltransferase family. SIMILARITY: Contains 1 MBD (methyl-CpG-binding) domain. SIMILARITY: Contains 1 pre-SET domain. SIMILARITY: Contains 1 SET domain. SEQUENCE CAUTION: Sequence=CAH56265.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=CAI10818.2; Type=Erroneous gene model prediction;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q96T68
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
