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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PRDM8
PR/SET domain 8
Chromosome 4 · 4q21.21
NCBI Gene: 56978Ensembl: ENSG00000152784.17HGNC: HGNC:13993UniProt: Q05CA1
19PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnucleusnucleoplasmnuclear bodyearly-onset Lafora body diseaseneurodegenerative diseaseProgressive myoclonic epilepsyovarian dysfunction
✦AI Summary

PRDM8 is a transcription factor that plays critical roles in neural development, hematopoietic differentiation, and glycogen metabolism regulation. In retinal development, PRDM8 is required for rod bipolar and type 2 OFF-cone bipolar cell survival, with knockout mice displaying electroretinogram deficits resembling congenital stationary night blindness 1. The protein also regulates amacrine cell subtype identity and is essential for proper differentiation of hematopoietic and neuronal cells from induced pluripotent stem cells 2. PRDM8 interacts with laforin and malin proteins, causing their nuclear translocation and regulating cytoplasmic quantities of these glycogen metabolism enzymes 3. Disease-wise, mutations in PRDM8 cause early-onset Lafora body disease, a progressive myoclonus epilepsy with onset around age 5, characterized by dysarthria, myoclonus, and ataxia 3. Additionally, PRDM8 functions as a tumor suppressor in hepatocellular carcinoma, inhibiting cell proliferation and PI3K/AKT/mTOR signaling through NAP1L1 regulation 4. Aberrant DNA methylation in PRDM8 serves as a biomarker for bone marrow failure syndromes including dyskeratosis congenita and aplastic anemia 5, and is associated with premature aging phenotypes 2.

Sources cited
1
PRDM8 is required for rod bipolar and type 2 OFF-cone bipolar cell survival and causes electroretinogram deficits when knocked out
PMID: 26023183
2
PRDM8 is essential for hematopoietic and neuronal differentiation from iPSCs and shows aberrant methylation in aging syndromes
PMID: 32819411
3
PRDM8 interacts with laforin and malin proteins and mutations cause early-onset Lafora body disease
PMID: 22961547
4
PRDM8 functions as tumor suppressor in hepatocellular carcinoma by regulating NAP1L1 and PI3K/AKT/mTOR signaling
PMID: 29572888
5
Aberrant DNA methylation in PRDM8 serves as biomarker for dyskeratosis congenita and aplastic anemia
PMID: 26909595
Disease Associationsⓘ21
early-onset Lafora body diseaseOpen Targets
0.57Moderate
neurodegenerative diseaseOpen Targets
0.43Moderate
Progressive myoclonic epilepsyOpen Targets
0.41Moderate
ovarian dysfunctionOpen Targets
0.32Weak
hypertensionOpen Targets
0.29Weak
chondromalaciaOpen Targets
0.25Weak
androgenetic alopeciaOpen Targets
0.24Weak
alcohol drinkingOpen Targets
0.18Weak
essential hypertensionOpen Targets
0.18Weak
Merkel cell skin cancerOpen Targets
0.08Suggestive
atrial fibrillationOpen Targets
0.07Suggestive
coronary artery diseaseOpen Targets
0.06Suggestive
Borderline personality disorderOpen Targets
0.06Suggestive
kidney failureOpen Targets
0.06Suggestive
goutOpen Targets
0.05Suggestive
major depressive disorderOpen Targets
0.05Suggestive
strokeOpen Targets
0.05Suggestive
preeclampsiaOpen Targets
0.05Suggestive
myocardial infarctionOpen Targets
0.05Suggestive
chronic kidney diseaseOpen Targets
0.05Suggestive
Epilepsy, progressive myoclonic 10UniProt
Pathogenic Variants1
NM_001099403.2(PRDM8):c.781T>C (p.Phe261Leu)Pathogenic
Early-onset Lafora body disease
☆☆☆☆2012→ Residue 261
View on ClinVar ↗
Related Genes
PRDM2Shared pathway100%MLLT10Shared pathway100%KDM5CShared pathway100%KMT2BShared pathway100%NPM3Shared pathway100%CFDP1Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
49%
Ovary
46%
Heart
14%
Lung
13%
Liver
3%
Gene Interaction Network
Click a node to explore
PRDM8PRDM2MLLT10KDM5CKMT2BNPM3CFDP1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q05CA1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.50Moderately Constrained
pLIⓘ
0.98Intolerant
Observed/Expected LoF0.31 [0.20–0.50]
RankingsWhere PRDM8 stands among ~20K protein-coding genes
  • #14,505of 20,598
    Most Researched19
  • #5,390of 5,498
    Most Pathogenic Variants1
  • #2,980of 17,882
    Most Constrained (LOEUF)0.50 · top quartile
Genes detectedPRDM8
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Polyglucosan storage myopathies.
PMID: 26278982
Mol Aspects Med · 2015
1.00
2
PRDM8 reveals aberrant DNA methylation in aging syndromes and is relevant for hematopoietic and neuronal differentiation.
PMID: 32819411
Clin Epigenetics · 2020
0.90
3
PRDM8 exhibits antitumor activities toward hepatocellular carcinoma by targeting NAP1L1.
PMID: 29572888
Hepatology · 2018
0.80
4
Early-onset Lafora body disease.
PMID: 22961547
Brain · 2012
0.70
5
Transcription factor PRDM8 is required for rod bipolar and type 2 OFF-cone bipolar cell survival and amacrine subtype identity.
PMID: 26023183
Proc Natl Acad Sci U S A · 2015
0.60