KMT5A lysine methyltransferase 5A
Gene ID: 387893, updated on 14-Nov-2024Gene type: protein coding
Also known as: SET8; SET07; SETD8; PR-Set7; PR/SET07
- See all available tests in GTR for this gene
- Go to complete Gene record for KMT5A
- Go to Variation Viewer for KMT5A variants
Summary
The protein encoded by this gene is a protein-lysine N-methyltransferase that can monomethylate Lys-20 of histone H4 to effect transcriptional repression of some genes. The encoded protein is required for cell proliferation and plays a role in chromatin condensation. [provided by RefSeq, May 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Biological insights from 108 schizophrenia-associated genetic loci. GeneReviews: Not available | |
| Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. GeneReviews: Not available | |
| Genome-wide association analysis identifies 13 new risk loci for schizophrenia. GeneReviews: Not available |
Genomic context
- Location:
- 12q24.31
- Sequence:
- Chromosome: 12; NC_000012.12 (123384132..123409353)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for KMT5A 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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