SETD2 SET domain containing 2, histone lysine methyltransferase
Gene ID: 29072, updated on 7-Apr-2024Gene type: protein coding
Also known as: LLS; HYPB; SET2; HIF-1; HIP-1; KMT3A; MRD70; RAPAS; HBP231; HSPC069; p231HBP
- See all available tests in GTR for this gene
- Go to complete Gene record for SETD2
- Go to Variation Viewer for SETD2 variants
Summary
Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. This protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II. [provided by RefSeq, Aug 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Intellectual developmental disorder, autosomal dominant 70 | not available |
| Luscan-Lumish syndrome | See labs |
| Rabin-Pappas syndrome | not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2022-03-08) ClinGen Genome Curation PagePubMedTriplosensitivity No evidence available (Last evaluated 2022-03-08) ClinGen Genome Curation Page |
Genomic context
- Location:
- 3p21.31
- Sequence:
- Chromosome: 3; NC_000003.12 (47016436..47164840, 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 SETD2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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
- SETD2 @ LOVD
- Variation ViewerRelated Variants
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