SUZ12 SUZ12 polycomb repressive complex 2 subunit
Gene ID: 23512, updated on 3-Apr-2024Gene type: protein coding
Also known as: CHET9; IMMAS; JJAZ1
- See all available tests in GTR for this gene
- Go to complete Gene record for SUZ12
- Go to Variation Viewer for SUZ12 variants
Summary
This zinc finger gene has been identified at the breakpoints of a recurrent chromosomal translocation reported in endometrial stromal sarcoma. Recombination of these breakpoints results in the fusion of this gene and JAZF1. The protein encoded by this gene contains a zinc finger domain in the C terminus of the coding region. [provided by RefSeq, Jul 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Imagawa-Matsumoto syndrome | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2012-07-06) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2012-07-06) ClinGen Genome Curation Page |
Genomic context
- Location:
- 17q11.2
- Sequence:
- Chromosome: 17; NC_000017.11 (31937007..32001038)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SUZ12 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
- Variation ViewerRelated Variants
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