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NRAP

Chr 10q25.3

nebulin related anchoring protein

MANE:
ENST00000359988.4

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Paediatric or syndromic cardiomyopathy

    BIALLELIC, autosomal or pseudoautosomal
  • Dilated and arrhythmogenic cardiomyopathy

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • dilated cardiomyopathy

    0.54
  • atrial fibrillation

    0.44
  • smoking initiation

    0.41
  • Abnormality of the cardiovascular system

    0.38
  • smoking behavior

    0.31
  • substance abuse

    0.28
  • attention deficit-hyperactivity disorder

    0.28
  • Abnormal erythrocyte morphology

    0.28
  • mitochondrial complex I deficiency

    0.27
  • mitochondrial complex I deficiency, nuclear type 4

    0.27

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

Protein function (UniProt)

Nebulin-related-anchoring protein

May be involved in anchoring the terminal actin filaments in the myofibril to the membrane and in transmitting tension from the myofibrils to the extracellular matrix

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.