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SLC37A3

Chr 7q34

solute carrier family 37 member 3

Aliases:
DKFZp761N0624, SPX3
MANE:
ENST00000326232.14

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Retinal disorders

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • retinitis pigmentosa

    0.37
  • brain compression

    0.28
  • edema

    0.28
  • Vertigo

    0.06
  • Meniere disease

    0.06
  • crush injury

    0.05
  • idiopathic pulmonary fibrosis

    0.05
  • androgenetic alopecia

    0.04
  • breast carcinoma

    0.04
  • type 2 diabetes mellitus

    0.04

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

Protein function (UniProt)

Sugar phosphate exchanger 3

Unlike the other SLC37 members, lacks glucose-6-phosphate antiporter activity (PubMed:21949678). In osteoclasts, forms a transporter complex with ATRAID for nitrogen-containing-bisphophonates (N-BPs) required for releasing N-BP molecules that have trafficked to lysosomes through fluid-phase endocytosis into the cytosol (PubMed:29745899)

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.