Gene Expression: BSCL2

Gene Data

  • Gene Symbol: BSCL2
  • Gene ID: 26580
  • Synonyms: GNG3LG, HMN5, SPG17
  • Description: Berardinelli-Seip congenital lipodystrophy 2 (seipin)
  • Database Refs: HGNC:15832, MIM:606158, Ensembl:ENSG00000168000, HPRD:05858, Vega:OTTHUMG00000150624
  • Links: Allen Brain Atlas,NCBI, GeneCards
Splicing Dynamics: DEXseq identifies changes in 3 out of 15 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 42 diseases, scroll to view all:
  1. Acanthosis nigricans
  2. Adiposis dolorosa
  3. Anterior horn cell disease
  4. Carbohydrate metabolism disease
  5. Central nervous system disease
  6. Central nervous system hereditary degene
  7. Charcot-Marie-Tooth disease
  8. Charcot-Marie-Tooth disease type 2
  9. Congenital generalized lipodystrophy
  10. Dermatitis
  11. Diabetes mellitus
  12. Disease
  13. Disease of anatomical entity
  14. Disease of metabolism
  15. Distal hereditary motor neuropathy
  16. Endocrine pancreas disease
  17. Endocrine system disease
  18. Familial partial lipodystrophy
  19. Gastric outlet obstruction
  20. Gastrointestinal system disease
  21. Glucose metabolism disease
  22. Hypertrophic cardiomyopathy
  23. Integumentary system disease
  24. Lipid metabolism disease
  25. Lipodystrophy
  26. Motor neuritis
  27. Motor neuron disease
  28. Muscle tissue disease
  29. Muscular disease
  30. Musculoskeletal system disease
  31. Myopathy
  32. Nervous system disease
  33. Neurodegenerative disease
  34. Neuromuscular disease
  35. Neuropathy
  36. Pancreas disease
  37. Panniculitis
  38. Paraplegia
  39. Progeria
  40. Pyloric stenosis
  41. Skin disease
  42. Spastic paraplegia

Stage Associations

This gene is associated with the following stages: