History:GENE:CEP290    

Gene Expression: SCN4A

Gene Data

  • Gene Symbol: SCN4A
  • Gene ID: 6329
  • Synonyms: HOKPP2, HYKPP, HYPP, NAC1A, Na(V)1.4, Nav1.4, SkM1
  • Description: sodium channel, voltage-gated, type IV, alpha subunit
  • Database Refs: HGNC:10591, MIM:603967, Ensembl:ENSG00000007314, HPRD:04912, Vega:OTTHUMG00000179046
  • Links: Allen Brain Atlas,NCBI, GeneCards
Splicing Dynamics: DEXseq identifies changes in 0 out of 24 exons in this gene. (More about DEXSeq here)

Cluster Associations

This gene is associated with the following clusters:

Disease Associations

This gene is associated with the following diseases. Clicking on the disease will take you to the disease association entry for that disease.

This gene is associated with 32 diseases, scroll to view all:
  1. Brugada syndrome
  2. Central nervous system disease
  3. Congenital myasthenic syndrome
  4. Critical illness polyneuropathy
  5. Disease
  6. Disease of anatomical entity
  7. Disease of metabolism
  8. Endocrine syndrome
  9. Epilepsy
  10. Episodic ataxia
  11. Familial periodic paralysis
  12. Generalized epilepsy
  13. Hyperkalemic periodic paralysis
  14. Hypokalemia
  15. Hypokalemic periodic paralysis
  16. Inborn errors metal metabolism
  17. Long QT syndrome
  18. Malignant hyperthermia
  19. Mineral metabolism disease
  20. Muscle tissue disease
  21. Muscular disease
  22. Musculoskeletal system disease
  23. Myopathy
  24. Myopathy of critical illness
  25. Myotonic disease
  26. Myotonic dystrophy
  27. Nervous system disease
  28. Neurodegenerative disease
  29. Neuromuscular disease
  30. Neuromuscular junction disease
  31. Neuropathy
  32. Thomsen disease

Stage Associations

This gene is associated with the following stages: