Gene

PRDM16

Species
Homo sapiens
Symbol
PRDM16
Name
PR/SET domain 16
Synonyms
  • CMD1LL
  • histone-lysine N-methyltransferase PRDM16
Biotype
protein coding gene
Automated Description
Enables DNA-binding transcription factor binding activity; DNA-binding transcription repressor activity, RNA polymerase II-specific; and transcription cis-regulatory region binding activity. Involved in negative regulation of granulocyte differentiation; negative regulation of transforming growth factor beta receptor signaling pathway; and regulation of DNA-templated transcription. Located in aggresome; cytosol; and nucleoplasm. Implicated in dilated cardiomyopathy 1LL.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR24393
No data available
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
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      Alleles and Variants

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        Transgenic Alleles

        Species
        (carrying the transgene)
        Allele symbol
        Transgenic construct
        Expressed components
        Knock-down targets
        Regulatory regions
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          Models

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            Sequence Feature Viewer

            Genome location
            Assembly version
            GRCh38
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            3.10M3.15M3.20M3.25M3.30M3.35M3.40M

            Sequence Details

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            Expression

            Primary Sources
            None
            Other Sources
            Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

            Molecular Interactions

            PRDM16 molecule type
            Interactor gene
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              Genetic Interactions

              PRDM16 role
              PRDM16 genetic perturbation
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