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TMEFF1

Chr 9q31.1

transmembrane protein with EGF like and two follistatin like domains 1

Aliases:
H7365, CT120.1
MANE:
ENST00000374879.5

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • stroke disorder

    0.25
  • alcohol drinking

    0.25
  • sialolithiasis

    0.23
  • Precordial pain

    0.18
  • ovarian carcinoma

    0.10
  • ovarian cancer

    0.10
  • dermatophytosis

    0.09
  • endometrial carcinoma

    0.08
  • cardiac hypertrophy

    0.07
  • endometrial cancer

    0.07

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

Protein function (UniProt)

Tomoregulin-1

Neuron-specific restriction factor that prevents herpes simplex virus 1 (HHV-1) infection in the brain by blocking viral entry (PubMed:39048823, PubMed:39048830). Also able to restrict herpes simplex virus 2 (HHV-2) infection, although to a lesser extent (PubMed:39048823). Acts by preventing the association between the viral glycoprotein D (gD) and its cell surface receptor NECTIN1, thereby inhibiting fusion of the virus and the cell membrane (PubMed:39048823, PubMed:39048830). Also able to prevent the association between the viral glycoprotein B (gB) and MYH9/NMMHC-IIA and MYH10/NMMHC-IIB receptors (PubMed:39048823). May be a tumor suppressor in brain cancers (PubMed:12743596)

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.