Free for academic non-profit institutions. Other users need a Commercial license
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]
PRDM16 (PR/SET Domain 16) is a Protein Coding gene. Diseases associated with PRDM16 include Left Ventricular Noncompaction 8 and Left Ventricular Noncompaction. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and PKMTs methylate histone lysines. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and transcription coactivator activity. An important paralog of this gene is MECOM.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0003712 | transcription coregulator activity | IBA | 21873635 |
GO:0003713 | transcription coactivator activity | IEA,ISS | -- |
GO:0005515 | protein binding | IPI | 19049980 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA,IDA | 19049980 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | IDA,TAS | -- |
GO:0016235 | aggresome | IDA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA,IDA | 19049980 |
GO:0006355 | regulation of transcription, DNA-templated | IBA | 21873635 |
GO:0010468 | regulation of gene expression | IBA | 21873635 |
GO:0019827 | stem cell population maintenance | IEA | -- |
GO:0022008 | neurogenesis | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PRDM16 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PRDM16 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PRDM16 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Prdm16 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Prdm16 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | PRDM16 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PRDM16 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PRDM16 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PRDM16 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | prdm16 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | prdm16 30 31 |
|
OneToOne | |
wufc09g08 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG10348 31 32 |
|
ManyToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | egl-43 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MSN2 31 |
|
ManyToMany | |
MSN4 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
573594 | Uncertain Significance: Left ventricular noncompaction 8 | 3,412,425(+) | GA/TC | MISSENSE_VARIANT | |
636727 | Uncertain Significance: not provided | 3,396,481(+) | T/G | INTRON_VARIANT | |
636819 | Uncertain Significance: not provided | 3,433,713(+) | C/G | MISSENSE_VARIANT,INTRON_VARIANT | |
638814 | Uncertain Significance: Left ventricular noncompaction 8 | 3,412,151(+) | G/A | MISSENSE_VARIANT | |
638957 | Uncertain Significance: Left ventricular noncompaction 8 | 3,186,299(+) | CT/C | FRAMESHIFT_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
left ventricular noncompaction 8 |
|
|
left ventricular noncompaction |
|
|
familial isolated dilated cardiomyopathy |
|
|
chromosome 1p36 deletion syndrome |
|
|
myelodysplastic syndrome |
|