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TMEM98

Chr 17q11.2

transmembrane protein 98

Aliases:
DKFZP564K1964
MANE:
ENST00000579849.6

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Anophthalmia or microphthalmia

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Structural eye disease

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • nanophthalmia

    0.71
  • microphthalmia

    0.70
  • nephrotic syndrome

    0.29
  • Abnormality of refraction

    0.24
  • myopia

    0.24
  • Dupuytren Contracture

    0.23
  • refractive error

    0.22
  • hereditary disease

    0.19
  • primary angle-closure glaucoma

    0.16
  • Hypermetropia

    0.14

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Transmembrane protein 98

Functions as a negative regulator of MYRF in oligodendrocyte differentiation and myelination. Interacts with the C-terminal of MYRF inhibiting MYRF self-cleavage and N-fragment nuclear translocation. The secreted form promotes differentiation of T helper 1 cells (Th1)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.