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FXYD2

Chr 11q23.3

FXYD domain containing ion transport regulator 2

Aliases:
MGC12372
MANE:
ENST00000292079.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Renal tubulopathies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Likely inborn error of metabolism

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Undiagnosed metabolic disorders

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • congestive heart failure

    0.60
  • atrial fibrillation

    0.60
  • heart failure

    0.58
  • renal hypomagnesemia 2

    0.55
  • cardiovascular disorder

    0.55
  • Autosomal dominant primary hypomagnesemia with hypocalciuria

    0.52
  • Arrhythmia

    0.50
  • type 2 diabetes mellitus

    0.47
  • neurodegenerative disease

    0.41
  • Supraventricular tachycardia

    0.32

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

Protein function (UniProt)

Sodium/potassium-transporting ATPase subunit gamma

May be involved in forming the receptor site for cardiac glycoside binding or may modulate the transport function of the sodium ATPase

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.