NSD3 nuclear receptor binding SET domain protein 3
Gene ID: 54904, updated on 11-Apr-2024Gene type: protein coding
Also known as: KMT3F; KMT3G; WHISTLE; WHSC1L1; pp14328
- See all available tests in GTR for this gene
- Go to complete Gene record for NSD3
- Go to Variation Viewer for NSD3 variants
Summary
This gene is related to the Wolf-Hirschhorn syndrome candidate-1 gene and encodes a protein with PWWP (proline-tryptophan-tryptophan-proline) domains. This protein methylates histone H3 at lysine residues 4 and 27, which represses gene transcription. Two alternatively spliced variants have been described. [provided by RefSeq, May 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common variants on 8p12 and 1q24.2 confer risk of schizophrenia. GeneReviews: Not available |
Genomic context
- Location:
- 8p11.23
- Sequence:
- Chromosome: 8; NC_000008.11 (38269704..38382271, complement)
- Total number of exons:
- 25
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NSD3 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
- WHSC1L1 database
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