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GenoLensGenoLens

DPT

Chr 1q24.2

dermatopontin

MANE:
ENST00000367817.4

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Familial Meniere Disease

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • Sensorineural hearing impairment

    0.40
  • hearing loss disorder

    0.39
  • hypothyroidism

    0.39
  • atrial fibrillation

    0.35
  • deep vein thrombosis

    0.35
  • Progressive sensorineural hearing impairment

    0.34
  • COVID-19

    0.34
  • severe acute respiratory syndrome

    0.34
  • restless legs syndrome

    0.32
  • septic shock

    0.29

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

Protein function (UniProt)

Dermatopontin

Seems to mediate adhesion by cell surface integrin binding. May serve as a communication link between the dermal fibroblast cell surface and its extracellular matrix environment. Enhances TGFB1 activity. Inhibits cell proliferation. Accelerates collagen fibril formation, and stabilizes collagen fibrils against low-temperature dissociation (By similarity)

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.