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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MPHOSPH8
M-phase phosphoprotein 8
Chromosome 13 · 13q12.11
NCBI Gene: 54737Ensembl: ENSG00000196199.15HGNC: HGNC:29810UniProt: Q99549
70PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
chromatin bindingprotein bindinghistone H3K9me2/3 reader activitynegative regulation of type I interferon productioninborn disorder of amino acid metabolismAbnormal pupillary functionankylosing spondylitissleep apnea
✦AI Summary

MPHOSPH8 (M-phase phosphoprotein 8) is a heterochromatin component that functions as an H3K9me3 reader, specifically recognizing and binding methylated histone H3 lysine 9 to promote epigenetic repression 1. As a core member of the HUSH complex (alongside TASOR and PPHLN1), MPHOSPH8 mediates recruitment of repressive machinery including the histone methyltransferase SETDB1 and chr13 remodeler MORC2 to maintain transcriptional silencing 1. The HUSH complex primarily silences LINE-1 retrotransposons located within transcriptionally active euchromatic regions, with silencing events often occurring within gene introns and reducing host gene expression 2. MPHOSPH8 also facilitates silencing of unintegrated retroviral DNA and integrase-deficient retroviruses through recruitment to target loci 3. As part of the HUSH2 complex, MPHOSPH8 suppresses interferon-stimulated genes and represses protocadherin gene clusters in the nervous system, influencing brain development and neuronal identity 4. In S phase, MPHOSPH8 interacts with DNA polymerase ε to promote asymmetric H3K9me3 distribution at head-on LINE elements 5. Clinically, MPHOSPH8 loss reactivates L1 retrotransposons in acute myeloid leukemia, inducing DNA damage and cell cycle exit, revealing unexpected tumor-suppressive functions 6. Genetic variants in MPHOSPH8 are implicated in Ménière's disease pathogenesis 7.

Sources cited
1
MPHOSPH8 is an H3K9me3 binding protein component of the HUSH complex that recruits SETDB1 to maintain transcriptional silencing
PMID: 26022416
2
HUSH complex (including MPHOSPH8) selectively silences young L1s in euchromatic regions, with silencing events in gene introns reducing host gene expression
PMID: 29211708
3
MPHOSPH8 is part of the HUSH complex recruited to silence unintegrated retroviral DNA
PMID: 30487602
4
MPHOSPH8 suppresses protocadherin gene clusters in the nervous system in an H3K9me3-dependent manner, affecting brain development
PMID: 36332029
5
MPHOSPH8 interacts with DNA polymerase ε to promote asymmetric H3K9me3 distribution at LINE elements during S phase
PMID: 37938774
6
MPHOSPH8 loss in acute myeloid leukemia reactivates L1 retrotransposons, inducing DNA damage response and cell cycle exit
PMID: 33833453
7
MPHOSPH8 variants are implicated in Ménière's disease and are enriched in genes affecting inner ear function
PMID: 38943082
Disease Associationsⓘ20
inborn disorder of amino acid metabolismOpen Targets
0.30Weak
Abnormal pupillary functionOpen Targets
0.29Weak
ankylosing spondylitisOpen Targets
0.28Weak
sleep apneaOpen Targets
0.19Weak
Sleep DisorderOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
osteosarcomaOpen Targets
0.07Suggestive
deafnessOpen Targets
0.06Suggestive
autosomal recessive nonsyndromic hearing loss 9Open Targets
0.05Suggestive
autosomal dominant nonsyndromic hearing lossOpen Targets
0.05Suggestive
benign adult familial myoclonic epilepsyOpen Targets
0.04Suggestive
hearing loss, autosomal recessiveOpen Targets
0.04Suggestive
cancerOpen Targets
0.03Suggestive
non-small cell lung carcinomaOpen Targets
0.03Suggestive
hypertensionOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
exostosisOpen Targets
0.02Suggestive
preeclampsiaOpen Targets
0.02Suggestive
ulcerative colitisOpen Targets
0.02Suggestive
muscular atrophyOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GID8Protein interaction100%H3-4Protein interaction99%DNMT3AProtein interaction98%H3-3AProtein interaction98%H3-3BProtein interaction98%H3C7Protein interaction98%
Tissue Expression6 tissues
Ovary
100%
Heart
99%
Lung
57%
Brain
53%
Bone Marrow
49%
Liver
44%
Gene Interaction Network
Click a node to explore
MPHOSPH8GID8H3-4DNMT3AH3-3AH3-3BH3C7
PROTEIN STRUCTURE
Preparing viewer…
PDB6V2S · 1.60 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.64LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.48 [0.37–0.64]
RankingsWhere MPHOSPH8 stands among ~20K protein-coding genes
  • #6,733of 20,598
    Most Researched70
  • #4,515of 17,882
    Most Constrained (LOEUF)0.64
Genes detectedMPHOSPH8
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Silencing of LINE-1 retrotransposons is a selective dependency of myeloid leukemia.
PMID: 33833453
Nat Genet · 2021
1.00
2
Selective silencing of euchromatic L1s revealed by genome-wide screens for L1 regulators.
PMID: 29211708
Nature · 2018
0.90
3
Asymmetric distribution of parental H3K9me3 in S phase silences L1 elements.
PMID: 37938774
Nature · 2023
0.80
4
GENE SILENCING. Epigenetic silencing by the HUSH complex mediates position-effect variegation in human cells.
PMID: 26022416
Science · 2015
0.70
5
PRC1.6 localizes on chromatin with the human silencing hub (HUSH) complex for promoter-specific silencing.
PMID: 39026796
bioRxiv · 2024
0.60