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FYB1

Chr 5p13.1

FYN binding protein 1

Aliases:
SLAP-130, FYB-120/130, ADAP
MANE:
ENST00000512982.4

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Bleeding and platelet disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Cytopenia - NOT Fanconi anaemia

    BIALLELIC, autosomal or pseudoautosomal
  • Inherited bleeding disorders

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • thrombocytopenia 3

    0.68
  • hereditary thrombocytopenia with normal platelets

    0.56
  • blood platelet disease

    0.37
  • ulcerative colitis

    0.27
  • macular degeneration

    0.27
  • degeneration of macula and posterior pole

    0.27
  • age-related macular degeneration

    0.27
  • retinal disorder

    0.26
  • neuroendocrine neoplasm

    0.26
  • sinusitis

    0.26

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

Protein function (UniProt)

FYN-binding protein 1

Acts as an adapter protein of the FYN and LCP2 signaling cascades in T-cells (By similarity). May play a role in linking T-cell signaling to remodeling of the actin cytoskeleton (PubMed:10747096, PubMed:16980616). Modulates the expression of IL2 (By similarity). Involved in platelet activation (By similarity). Prevents the degradation of SKAP1 and SKAP2 (PubMed:15849195). May be involved in high affinity immunoglobulin epsilon receptor signaling in mast cells (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.