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SLC10A7

Chr 4q31.22

solute carrier family 10 member 7

Aliases:
MGC25043, DKFZp566M114, DKFZp313H0531, DKFZp779O2438
MANE:
ENST00000335472.12

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Amelogenesis imperfecta

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis

    0.77
  • skeletal dysplasia

    0.38
  • scoliosis

    0.37
  • Short stature

    0.37
  • short stature due to GHSR deficiency

    0.37
  • Cerebral degeneration

    0.29
  • Corneal opacity

    0.29
  • smoking initiation

    0.27
  • alcohol drinking

    0.27
  • infectious disease

    0.27

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

Protein function (UniProt)

Sodium/bile acid cotransporter 7

Involved in teeth and skeletal development. Has an essential role in the biosynthesis and trafficking of glycosaminoglycans and glycoproteins, to produce a proper functioning extracellular matrix. Required for extracellular matrix mineralization (PubMed:29878199, PubMed:30082715). Also involved in the regulation of cellular calcium homeostasis (PubMed:30082715, PubMed:31191616). Does not show transport activity towards bile acids or steroid sulfates (including taurocholate, cholate, chenodeoxycholate, estrone-3-sulfate, dehydroepiandrosterone sulfate (DHEAS) and pregnenolone sulfate)

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.