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SLC5A5

Chr 19p13.11

solute carrier family 5 member 5

Aliases:
NIS
MANE:
ENST00000222248.4

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Congenital hypothyroidism

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Inherited non-medullary thyroid cancer

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • familial thyroid dyshormonogenesis

    0.78
  • thyroid dyshormonogenesis 1

    0.72
  • congenital hypothyroidism

    0.46
  • hereditary disease

    0.19
  • follicular thyroid adenoma

    0.19
  • Primary amenorrhea

    0.12
  • neoplasm

    0.12
  • breast cancer

    0.11
  • breast carcinoma

    0.11
  • thyroid gland carcinoma

    0.11

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

Protein function (UniProt)

Sodium/iodide cotransporter

Sodium:iodide symporter that mediates the transport of iodide into the thyroid gland (PubMed:12488351, PubMed:18372236, PubMed:18708479, PubMed:20797386, PubMed:31310151, PubMed:32084174, PubMed:8806637, PubMed:9329364). Can also mediate the transport of chlorate, thiocynate, nitrate and selenocynate (PubMed:12488351)

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.