SLC16A2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood onset dystonia, chorea or related movement disorder

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Childhood onset hereditary spastic paraplegia

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Congenital hypothyroidism

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• DDG2P

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Early onset or syndromic epilepsy

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Fetal anomalies

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Hereditary spastic paraplegia

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Hyperthyroidism

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

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Disease associations (Open Targets)

• Allan-Herndon-Dudley syndrome

  0.85

• Spastic paraplegia

  0.55

• hereditary disease

  0.54

• neurodegenerative disease

  0.42

• Intellectual disability

  0.35

• Hypotonia

  0.34

• hereditary spastic paraplegia

  0.32

• Decreased activity of the pyruvate dehydrogenase complex

  0.27

• prostate cancer

  0.11

• Familial prostate cancer

  0.11

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

Protein function (UniProt)

Diseases associated with SLC16A2

Curated MONDO disease pages that list SLC16A2 among their top associated genes.

• hyperinsulinemic hypoglycemia, familial, 4Rare