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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TMEFF1
transmembrane protein with EGF like and two follistatin like domains 1
Chromosome 9 · 9q31.1
NCBI Gene: 8577Ensembl: ENSG00000241697.6HGNC: HGNC:11866UniProt: Q8IYR6
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
receptor ligand inhibitor activityhost-mediated suppression of symbiont invasionplasma membranesialolithiasisPrecordial painovarian cancercancer
✦AI Summary

TMEFF1 is a neuron-specific transmembrane protein with dual roles in antiviral immunity and cancer biology. Primarily, TMEFF1 functions as a restriction factor for herpes simplex virus 1 (HSV-1) in the central nervous system 1. It blocks HSV-1 entry into cortical neurons by preventing the association between viral glycoprotein D and its cell surface receptor NECTIN1, and also inhibits interactions between viral glycoprotein B and non-muscle myosin heavy chains IIA and IIB 2. TMEFF1 is constitutively highly expressed in brain neurons but is not regulated by type I interferon, representing a distinct antiviral pathway 2. Genetic deficiency in TMEFF1 causes severe susceptibility to HSV-1 encephalitis in children, with TMEFF1-deficient mice showing increased viral replication specifically in brain neurons 12. Clinically, inherited TMEFF1 mutations underlie approximately 8-10% of childhood herpes simplex encephalitis cases, enabling new diagnostic approaches 3. Additionally, TMEFF1 may function as a tumor suppressor in brain cancers, as 96% of brain tumors showed reduced TMEFF1 expression compared to normal brain tissue, and ectopic TMEFF1 expression inhibited brain cancer cell growth 4. However, TMEFF1 expression promotes malignancy in ovarian and liver cancers through interactions with ST14, AHNAK, and TGF-β/Smad signaling pathways, suggesting tissue-specific functional differences 567.

Sources cited
1
TMEFF1 is a neuron-specific HSV-1 restriction factor that blocks viral entry by impairing NECTIN-1-mediated fusion; TMEFF1 deficiency causes HSV-1 encephalitis in children
PMID: 39048830
2
TMEFF1 is neuron-specific, not regulated by type I interferon, blocks HSV-1 entry through interactions with NECTIN-1 and myosin heavy chains; Tmeff1-/- mice show increased brain-specific viral susceptibility
PMID: 39048823
3
TMEFF1 deficiency underlies 8-10% of childhood HSV-1 encephalitis cases, representing a neuron-intrinsic antiviral pathway independent of type I interferon
PMID: 39567785
4
96% of brain tumors have lower TMEFF1 expression than normal brain tissue; ectopic TMEFF1 expression inhibits brain cancer cell growth, suggesting tumor suppressor role
PMID: 12743596
5
High TMEFF1 expression in ovarian cancer correlates with tumor malignancy and poor prognosis; ST14 regulates TMEFF1 to promote cancer cell proliferation, migration, and invasion
PMID: 38468232
6
TMEFF1 interacts with AHNAK in ovarian cancer; high TMEFF1 expression indicates tumor malignancy and poor prognosis
PMID: 35338959
7
Parkin deficiency upregulates TMEFF1 through TGF-β/Smad2/3 pathway to promote liver cancer migration and metastasis
PMID: 38519646
8
MIR503HG suppresses TMEFF1 transcription by blocking SPI1-mediated TMEFF1 activation; TMEFF1 promotes ovarian cancer progression through MAPK and PI3K/AKT pathways
PMID: 35771155
Disease Associationsⓘ20
sialolithiasisOpen Targets
0.25Weak
Precordial painOpen Targets
0.21Weak
ovarian cancerOpen Targets
0.10Suggestive
cancerOpen Targets
0.08Suggestive
endometrial carcinomaOpen Targets
0.08Suggestive
cardiac hypertrophyOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
endometrial cancerOpen Targets
0.07Suggestive
infectionOpen Targets
0.05Suggestive
malariaOpen Targets
0.04Suggestive
persistent truncus arteriosusOpen Targets
0.04Suggestive
atrial fibrillationOpen Targets
0.04Suggestive
osteoporosisOpen Targets
0.04Suggestive
postmenopausal osteoporosisOpen Targets
0.04Suggestive
melorheostosisOpen Targets
0.04Suggestive
synovial sarcomaOpen Targets
0.04Suggestive
pyknoachondrogenesisOpen Targets
0.03Suggestive
gnathodiaphyseal dysplasiaOpen Targets
0.03Suggestive
gastroduodenitisOpen Targets
0.03Suggestive
autosomal recessive hypophosphatemic ricketsOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ZDHHC5Protein interaction79%TRIM10Shared pathway50%TRIM59Shared pathway33%LY6EShared pathway33%LRRC15Shared pathway20%NECTIN1Co-mentioned in literature20%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
1%
Ovary
1%
Heart
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
TMEFF1ZDHHC5TRIM10TRIM59LY6ELRRC15NECTIN1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8IYR6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.66LoF Tolerant
pLIⓘ
0.04Tolerant
Observed/Expected LoF0.46 [0.32–0.66]
RankingsWhere TMEFF1 stands among ~20K protein-coding genes
  • #13,333of 20,598
    Most Researched24
  • #4,844of 17,882
    Most Constrained (LOEUF)0.66
Genes detectedTMEFF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Human TMEFF1 is a restriction factor for herpes simplex virus in the brain.
PMID: 39048830
Nature · 2024
1.00
2
TMEFF1 is a neuron-specific restriction factor for herpes simplex virus.
PMID: 39048823
Nature · 2024
0.90
3
Genetic defects of brain immunity in childhood herpes simplex encephalitis.
PMID: 39567785
Nature · 2024
0.80
4
TMEFF1 and brain tumors.
PMID: 12743596
Oncogene · 2003
0.70
5
ST14 interacts with TMEFF1 and is a predictor of poor prognosis in ovarian cancer.
PMID: 38468232
BMC Cancer · 2024
0.60