AlphaFold predicted structure
PRDM16 · Q9HAZ2
Mean pLDDT
50.8/ 100
Low
1,276 residues
Confidence breakdown
- Very high(≥ 90)0%
- Confident(70–90)27%
- Low(50–70)7%
- Very low(< 50)65%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
PRDM16
Chr 1p36.32PR/SET domain 16
- Aliases:
- MEL1, PFM13, KIAA1675, MGC166915, KMT8F
- MANE:
- ENST00000270722.10
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDilated Cardiomyopathy and conduction defects
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLeft Ventricular Noncompaction Cardiomyopathy
Disease associations (Open Targets)
left ventricular noncompaction
0.70cardiomyopathy, dilated, 1LL
0.69familial isolated dilated cardiomyopathy
0.62Headache
0.48coronary artery disorder
0.48hereditary disease
0.47Left ventricular noncompaction cardiomyopathy
0.47migraine disorder
0.47open-angle glaucoma
0.43dilated cardiomyopathy
0.42
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Histone-lysine N-methyltransferase PRDM16
Transcription regulator that acts both as a histone methyltransferase or chromatin adapter, depending on the context (PubMed:12816872). In the cytoplasm, acts as a histone methyltransferase, which catalyzes monomethylation of 'Lys-9' of free histone H3 (H3K9me1) during translation (By similarity). Monomethylated histone H3 is then transported to the nucleus and incorporated into nucleosomes where SUV39H methyltransferases (SUV39H1 and SUV39H2) use it as a substrate to catalyze histone H3 'Lys-9' trimethylation (H3K9me3) (By similarity). Probably one of the primary histone methyltransferases along with MECOM/PRDM3 that direct cytoplasmic H3K9me1 methylation (By similarity). In the nucleus, acts as a key chromatin adapter that mediates differentiation of brown and beige adipocytes, which are specialized in dissipating chemical energy in the form of heat in response to cold or excess feeding (By similarity). Following recruitment to chromatin by PPARG nuclear receptor, promotes differentiation of myoblastic precursors into brown adipose cells (By similarity). Mechanistically, acts by mediating recruitment of (1) EHMT1 histone methyltransferase, thereby inhibiting the expression of white adipose-selective genes or (2) mediator complex, activating genes that are highly expressed in brown adipocytes, such as UCP1, PPARA, and PPARGC1A (By similarity). Also mediates differentiation of beige adipocytes from white adipose cells following recruitment by PPARG (By similarity). In addition to adipocyte differentiation, also involved in tolerance to gut microbiota: following recruitment to chromatin by RORgammaT (RORC) in a subset of antigen-presenting cells, promotes differentiation of peripherally-induced regulatory T-cells (pTreg), which suppress inflammatory responses to commensal microorganisms (By similarity). Also required in adult heart to preserve mitochondrial function and inhibit hypertrophy with advanced age (By similarity). Functions as a repressor of TGF-beta signaling (PubMed:19049980)
Diseases associated with PRDM16
Curated MONDO disease pages that list PRDM16 among their top associated genes.