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GenoLensGenoLens

CD96

Chr 3q13.13-q13.2

CD96 molecule

Aliases:
TACTILE
MANE:
ENST00000352690.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Limb disorders

  • Rare syndromic craniosynostosis or isolated multisuture synostosis

  • Skeletal dysplasia

Disease associations (Open Targets)

  • C syndrome

    0.62
  • tooth disorder

    0.27
  • diaphragm disorder

    0.22
  • Abnormal erythrocyte morphology

    0.22
  • lacrimal apparatus disorder

    0.21
  • adolescent idiopathic scoliosis

    0.21
  • response to TNF antagonist

    0.14
  • neoplasm

    0.12
  • acute myeloid leukemia

    0.10
  • central nervous system cancer

    0.10

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

Protein function (UniProt)

T-cell surface protein tactile

May be involved in adhesive interactions of activated T and NK cells during the late phase of the immune response. Promotes NK cell-target adhesion by interacting with PVR present on target cells. May function at a time after T and NK cells have penetrated the endothelium using integrins and selectins, when they are actively engaging diseased cells and moving within areas of inflammation

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.