Skip to content
GenoLensGenoLens

SIPA1L3

Chr 19q13.13-q13.2

signal induced proliferation associated 1 like 3

Aliases:
KIAA0545, SPAR3
MANE:
ENST00000222345.11

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Bilateral congenital or childhood onset cataracts

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • early-onset non-syndromic cataract

    0.56
  • Total congenital cataract

    0.39
  • total early-onset cataract

    0.37
  • hyperuricemia

    0.28
  • prostate carcinoma

    0.26
  • cutaneous melanoma

    0.24
  • response to antibiotic

    0.24
  • poisoning

    0.24
  • myeloproliferative disorder

    0.24
  • nephrotic syndrome

    0.23

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

Protein function (UniProt)

Signal-induced proliferation-associated 1-like protein 3

Plays a critical role in epithelial cell morphogenesis, polarity, adhesion and cytoskeletal organization in the lens (PubMed:26231217)

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.