PRDM16 PR/SET domain 16
Gene ID: 63976, updated on 7-Apr-2024Gene type: protein coding
Also known as: MEL1; KMT8F; LVNC8; PFM13; CMD1LL
- See all available tests in GTR for this gene
- Go to complete Gene record for PRDM16
- Go to Variation Viewer for PRDM16 variants
Summary
The reciprocal translocation t(1;3)(p36;q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This gene is located near the 1p36.3 breakpoint and has been shown to be specifically expressed in the t(1:3)(p36,q21)-positive MDS/AML. The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal PR domain. The translocation results in the overexpression of a truncated version of this protein that lacks the PR domain, which may play an important role in the pathogenesis of MDS and AML. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association of lipid-lowering response to statins in combined study populations. GeneReviews: Not available | |
| Genome-wide association study reveals three susceptibility loci for common migraine in the general population. GeneReviews: Not available | |
| Genome-wide meta-analysis identifies new susceptibility loci for migraine. GeneReviews: Not available | |
| Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians. GeneReviews: Not available | |
| Integrated Genome-wide Association, Coexpression Network, and Expression Single Nucleotide Polymorphism Analysis Identifies Novel Pathway in Allergic Rhinitis. GeneReviews: Not available | |
| Left ventricular noncompaction 8 | See labs |
Genomic context
- Location:
- 1p36.32
- Sequence:
- Chromosome: 1; NC_000001.11 (3069203..3438621)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PRDM16 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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