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SALL2

Chr 14q11.2

spalt like transcription factor 2

Aliases:
KIAA0360, Hsal2, ZNF795
MANE:
ENST00000537235.2

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Structural eye disease

    BIALLELIC, autosomal or pseudoautosomal
  • Ocular coloboma

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • coloboma

    0.50
  • coloboma of choroid and retina

    0.37
  • coloboma of eye lens

    0.37
  • Coloboma of optic papilla

    0.37
  • neurodegenerative disease

    0.37
  • coloboma of macula

    0.37
  • coloboma of optic nerve

    0.37
  • coloboma of iris

    0.37
  • coloboma of eyelid

    0.37
  • cancer

    0.11

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

Protein function (UniProt)

Sal-like protein 2

Probable transcription factor that plays a role in eye development before, during, and after optic fissure closure

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.