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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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TMEM98
transmembrane protein 98
Chromosome 17 Β· 17q11.2
NCBI Gene: 26022Ensembl: ENSG00000006042.13HGNC: HGNC:24529UniProt: Q9Y2Y6
29PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
GO:0005615endoplasmic reticulumprotein bindingnucleoplasmmicrophthalmiananophthalmianephrotic syndromemyopia
✦AI Summary

TMEM98 is a transmembrane protein with dual roles in ocular development and cellular regulation. Primary function: TMEM98 negatively regulates MYRF, an ER-tethered transcription factor involved in eye size specification 1. It inhibits MYRF self-cleavage and nuclear translocation of the N-terminal fragment, thereby suppressing MYRF-dependent transcription 1. In the retinal pigment epithelium, TMEM98 loss leads to enlarged, fragile eyes with thin retinas and sclera, demonstrating its critical role in controlling ocular dimensions 1. Disease relevance: Mutations in TMEM98 cause nanophthalmos 4, characterized by abnormally small eyes, high hyperopia, and angle-closure glaucoma predisposition 234. The A193P and I135T missense mutations produce recessive retinal defects featuring photoreceptor layer disruption, retinal folds, and outer segment accumulation 2. Patients with TMEM98 variants show earlier glaucoma onset compared to other nanophthalmos genes 4. Clinical significance: Beyond ocular function, TMEM98 demonstrates multifaceted involvement in cancer biology. Elevated TMEM98 expression in hepatocellular carcinoma (67.8% of specimens) correlates with early recurrence, poor survival, and chemoresistance through AKT pathway activation 56. Conversely, TMEM98 acts as a tumor suppressor in ovarian cancer, with low expression promoting proliferation and inhibiting apoptosis 7. TMEM98 knockdown inhibits lung cancer cell invasion and migration 8, indicating context-dependent oncological roles.

Sources cited
1
TMEM98 inhibits MYRF self-cleavage and nuclear translocation; RPE-deficient mice show enlarged fragile eyes with thin retinas and sclera
PMID: 32236127
2
TMEM98 mutations (I135T, A193P, H196P) cause retinal defects with retinal folds and photoreceptor disorganization in mice; associated with human nanophthalmos
PMID: 31266059
3
TMEM98 p.(Ala193Pro) variant causes retinal white spots and folds in both mice and humans; plays primary role in retinal and scleral structure
PMID: 37419942
4
TMEM98 variants account for 7.9% of nanophthalmos cases; associated with earlier glaucoma onset compared to other nanophthalmos genes
PMID: 38749530
5
TMEM98 overexpressed in 67.8% of hepatocellular carcinoma; correlates with advanced stage, early recurrence, poor survival, and chemoresistance via AKT pathway
PMID: 24608572
6
TMEM98 involved in Wnt/Ξ²-catenin and AKT/GSK3Ξ² pathways; interacts with MYRF and NF90; multifactorial regulator of cell growth, migration, and adhesion
PMID: 41029742
7
TMEM98 knockdown inhibits lung cancer cell proliferation, invasion, and migration via MMP-2, MMP-9, RhoC, and MTA1 downregulation
PMID: 26884835
8
TMEM98 downregulated in ovarian cancer; low expression promotes proliferation, migration, invasion and inhibits apoptosis; tumor-suppressor function
PMID: 35866395
Disease Associationsβ“˜21
microphthalmiaOpen Targets
0.72Strong
nanophthalmiaOpen Targets
0.71Strong
nephrotic syndromeOpen Targets
0.33Weak
myopiaOpen Targets
0.29Weak
Abnormality of refractionOpen Targets
0.27Weak
refractive errorOpen Targets
0.26Weak
Dupuytren ContractureOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
multinodular goiterOpen Targets
0.13Weak
stomach diseaseOpen Targets
0.13Weak
HypermetropiaOpen Targets
0.13Weak
X-linked retinal dysplasiaOpen Targets
0.11Weak
choroidal dystrophy, central areolar, 1Open Targets
0.10Weak
age-related macular degenerationOpen Targets
0.09Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.09Suggestive
Stargardt diseaseOpen Targets
0.09Suggestive
reticular dystrophy of the retinal pigment epitheliumOpen Targets
0.08Suggestive
retinitis pigmentosaOpen Targets
0.08Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.08Suggestive
age related macular degeneration 6Open Targets
0.08Suggestive
Nanophthalmos 4UniProt
Pathogenic Variants3
NM_015544.3(TMEM98):c.587A>C (p.His196Pro)Pathogenic
Nanophthalmos 4
β˜†β˜†β˜†β˜†2016β†’ Residue 196
NM_015544.3(TMEM98):c.236_263+6delPathogenic
Nanophthalmos 4
β˜†β˜†β˜†β˜†2016
NM_015544.3(TMEM98):c.577G>C (p.Ala193Pro)Pathogenic
Nanophthalmos 4
β˜†β˜†β˜†β˜†2014β†’ Residue 193
View on ClinVar β†—
Related Genes
PRSS56Protein interaction81%MYRFProtein interaction76%MFRPProtein interaction72%MAGEA3Shared pathway14%ACP4Shared pathway13%TRIM40Shared pathway10%
Tissue Expression6 tissues
Ovary
100%
Brain
29%
Heart
25%
Lung
15%
Liver
12%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
TMEM98PRSS56MYRFMFRPMAGEA3ACP4TRIM40
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9Y2Y6
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.07LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.72 [0.50–1.07]
RankingsWhere TMEM98 stands among ~20K protein-coding genes
  • #12,261of 20,598
    Most Researched29
  • #4,127of 5,498
    Most Pathogenic Variants3
  • #10,845of 17,882
    Most Constrained (LOEUF)1.07
Genes detectedTMEM98
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Missense Mutations in the Human Nanophthalmos Gene TMEM98 Cause Retinal Defects in the Mouse.
PMID: 31266059
Invest Ophthalmol Vis Sci Β· 2019
1.00
2
Phenotypic consequences of a nanophthalmos-associated TMEM98 variant in human and mouse.
PMID: 37419942
Sci Rep Β· 2023
0.90
3
Clinical features of patients with mutations in genes for nanophthalmos.
PMID: 38749530
Br J Ophthalmol Β· 2024
0.80
4
Transmembrane protein TMEM98 as a multifunctional regulator in cancer: from signaling pathways to translational implications.
PMID: 41029742
J Transl Med Β· 2025
0.70
5
siRNA-TMEM98 inhibits the invasion and migration of lung cancer cells.
PMID: 26884835
Int J Clin Exp Pathol Β· 2015
0.60