History:GENE:OPCML    GENE:WDFY2    GENE:S100A2    GENE:TDRD3    GENE:SHOX    

Gene Expression: GJB2

Gene Data

  • Gene Symbol: GJB2
  • Gene ID: 2706
  • Synonyms: CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK
  • Description: gap junction protein, beta 2, 26kDa
  • Database Refs: HGNC:4284, MIM:121011, Ensembl:ENSG00000165474, HPRD:00413, Vega:OTTHUMG00000016513
  • Links: Allen Brain Atlas,NCBI, GeneCards
Splicing Dynamics: DEXseq identifies changes in 0 out of 2 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 40 diseases, scroll to view all:
  1. Auditory system disease
  2. Autosomal dominant nonsyndromic deafness
  3. Autosomal recessive nonsyndromic deafnes
  4. Bart-Pumphrey syndrome
  5. Cancer
  6. Clouston syndrome
  7. Corneal disease
  8. Disease
  9. Disease of anatomical entity
  10. Disease of cellular proliferation
  11. Enlarged vestibular aqueduct
  12. Erythrokeratodermia variabilis
  13. Eye and adnexa disease
  14. Eye disease
  15. Genetic disease
  16. Genetic skin disease
  17. Globe disease
  18. Hair disease
  19. Hypotrichosis
  20. Inner ear disease
  21. Integumentary system disease
  22. Keratitis
  23. Keratosis
  24. Labyrinthine disease
  25. Labyrinthitis
  26. Microcystic meningioma
  27. Middle ear disease
  28. Monogenic disease
  29. Nervous system disease
  30. Nonepidermolytic palmoplantar keratoderm
  31. Nonsyndromic deafness
  32. Otitis interna
  33. Otitis media
  34. Palmoplantar keratosis
  35. Sensorineural hearing loss
  36. Sensory system disease
  37. Skin disease
  38. Usher syndrome
  39. Vestibular disease
  40. Waardenburg's syndrome

Stage Associations

This gene is associated with the following stages: