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GenoLensGenoLens

RELT

Chr 11q13.4

RELT TNF receptor

Aliases:
FLJ14993
MANE:
ENST00000064780.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Amelogenesis imperfecta

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • amelogenesis imperfecta

    0.52
  • Hypoplastic amelogenesis imperfecta

    0.39
  • hypocalcified amelogenesis imperfecta

    0.37
  • Pain

    0.28
  • diverticular disease

    0.25
  • pernicious anemia

    0.24
  • Varicose veins

    0.20
  • lymphatic system disorder

    0.20
  • vein disorder

    0.20
  • Crohn disease

    0.20

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

Protein function (UniProt)

Tumor necrosis factor receptor superfamily member 19L

May play a role in apoptosis (PubMed:19969290, PubMed:28688764). Induces activation of MAPK14/p38 and MAPK8/JNK MAPK cascades, when overexpressed (PubMed:16530727). Involved in dental enamel formation (PubMed:30506946)

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.