AlphaFold predicted structure
PRDM6 · Q9NQX0
Mean pLDDT
56.2/ 100
Low
595 residues
Confidence breakdown
- Very high(≥ 90)3%
- Confident(70–90)33%
- Low(50–70)17%
- Very low(< 50)47%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
PRDM6
Chr 5q23.2PR/SET domain 6
- Aliases:
- PRISM, KMT8C
- MANE:
- ENST00000407847.5
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Moderate Evidence (Amber)
Paediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
persistent fetal circulation syndrome
0.60hypertensive disorder
0.53neurodegenerative disease
0.50essential hypertension
0.49androgenetic alopecia
0.46aortic aneurysm
0.42Increased blood pressure
0.41cardiovascular disorder
0.40familial patent arterial duct
0.40aneurysm
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Putative histone-lysine N-methyltransferase PRDM6
Putative histone methyltransferase that acts as a transcriptional repressor of smooth muscle gene expression. Promotes the transition from differentiated to proliferative smooth muscle by suppressing differentiation and maintaining the proliferative potential of vascular smooth muscle cells. Also plays a role in endothelial cells by inhibiting endothelial cell proliferation, survival and differentiation. It is unclear whether it has histone methyltransferase activity in vivo. According to some authors, it does not act as a histone methyltransferase by itself and represses transcription by recruiting EHMT2/G9a. According to others, it possesses histone methyltransferase activity when associated with other proteins and specifically methylates 'Lys-20' of histone H4 in vitro. 'Lys-20' methylation represents a specific tag for epigenetic transcriptional repression
Diseases associated with PRDM6
Curated MONDO disease pages that list PRDM6 among their top associated genes.