Free for academic non-profit institutions. Other users need a Commercial license
The protein encoded by this gene is a transcriptional repressor and a member of the PRDM family. Family members contain a PR domain and multiple zinc-finger domains. The encoded protein is involved in regulation of vascular smooth muscle cells (VSMC) contractile proteins. Mutations in this gene result in patent ductus arteriosus 3 (PDA3). [provided by RefSeq, Apr 2017]
PRDM6 (PR/SET Domain 6) is a Protein Coding gene. Diseases associated with PRDM6 include Patent Ductus Arteriosus 3 and Familial Patent Arterial Duct. Among its related pathways are Lysine degradation. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and histone-lysine N-methyltransferase activity. An important paralog of this gene is PRDM14.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IBA | 21873635 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISA | -- |
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003700 | DNA-binding transcription factor activity | IBA | 21873635 |
GO:0005515 | protein binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Lysine degradation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006325 | chromatin organization | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IEA | -- |
GO:0022008 | neurogenesis | IEA,IBA | 21873635 |
GO:0032259 | methylation | IEA | -- |
GO:0034968 | histone lysine methylation | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
s-adenosylhomocysteine | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
s-adenosylmethionine |
|
485-80-3 |
|
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||
SP3: | - | ||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
platypus (Ornithorhynchus anatinus) |
Mammalia | PRDM6 33 |
|
OneToOne | |
chimpanzee (Pan troglodytes) |
Mammalia | PRDM6 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | PRDM6 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | PRDM6 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Prdm6 32 |
|
||
mouse (Mus musculus) |
Mammalia | Prdm6 17 33 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | PRDM6 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | PRDM6 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | PRDM6 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | prdm6 32 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.12311 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | prdm6 33 |
|
OneToMany | |
PRDM6 (2 of 2) 33 |
|
OneToMany | |||
LOC101886516 32 |
|
||||
worm (Caenorhabditis elegans) |
Secernentea | set-17 33 |
|
OneToMany |
SNP ID | Clin | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs879253872 | pathogenic, Patent ductus arteriosus 3, Patent ductus arteriosus 3 (PDA3) [MIM:617039] | 123,170,997(+) | A/G | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs879255278 | pathogenic, Patent ductus arteriosus 3, Patent ductus arteriosus 3 (PDA3) [MIM:617039] | 123,180,296(+) | G/A | coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
rs879255279 | pathogenic, Patent ductus arteriosus 3, Patent ductus arteriosus 3 (PDA3) [MIM:617039] | 123,099,849(+) | G/C | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs1000043147 | -- | 123,109,397(+) | G/A/T | intron_variant | |
rs1000053908 | -- | 123,123,733(+) | T/C | intron_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2730710 | CNV | deletion | 23290073 |
esv2730712 | CNV | deletion | 23290073 |
esv2730713 | CNV | deletion | 23290073 |
esv3575879 | CNV | gain | 25503493 |
esv3575880 | CNV | gain | 25503493 |
nsv1016658 | CNV | loss | 25217958 |
nsv1017500 | CNV | loss | 25217958 |
nsv4979 | CNV | insertion | 18451855 |
nsv520349 | CNV | loss | 19592680 |
nsv950128 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
patent ductus arteriosus 3 |
|
|
familial patent arterial duct |
|
|
encephalomalacia |
|
|
patent ductus arteriosus 1 |
|
|
shwartzman phenomenon |
|
|