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NEXN

Chr 1p31.1

nexilin F-actin binding protein

Aliases:
nexilin, NELIN
MANE:
ENST00000334785.12

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Dilated and arrhythmogenic cardiomyopathy

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Dilated Cardiomyopathy and conduction defects

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Paediatric or syndromic cardiomyopathy

    BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
  • Hereditary neuropathy

  • Hereditary neuropathy or pain disorder

  • Hypertrophic cardiomyopathy

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • dilated cardiomyopathy 1CC

    0.79
  • hypertrophic cardiomyopathy 20

    0.75
  • familial isolated dilated cardiomyopathy

    0.67
  • hypertrophic cardiomyopathy

    0.58
  • cardiomyopathy, dilated, 2M

    0.53
  • cardiomyopathy

    0.46
  • dilated cardiomyopathy

    0.35
  • Abnormality of the cardiovascular system

    0.35
  • Left ventricular noncompaction cardiomyopathy

    0.30
  • left ventricular noncompaction

    0.29

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

Protein function (UniProt)

Nexilin

Involved in regulating cell migration through association with the actin cytoskeleton. Has an essential role in the maintenance of Z line and sarcomere integrity

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

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.