TM6SF2: A Gene Linked to Inflammatory Bowel Disease and Other Immune Disorders


TM6SF2 is a gene located on chromosome 6 that plays a crucial role in the regulation of immune responses. It encodes a protein called transmembrane protein 6 superfamily member 2, which is expressed on the surface of immune cells. TM6SF2 is involved in several immune signaling pathways and helps control the activation and differentiation of immune cells.

Associated Diseases

Mutations or variations in the TM6SF2 gene have been associated with several immune-mediated diseases, including:

  • Inflammatory bowel disease (IBD): A chronic condition characterized by inflammation of the digestive tract. TM6SF2 variants are strongly associated with an increased risk of Crohn‘s disease, a form of IBD.
  • Celiac disease: An autoimmune condition that damages the small intestine when gluten is consumed. TM6SF2 variants are linked to an increased susceptibility to celiac disease.
  • Ankylosing spondylitis: A chronic inflammatory disorder that primarily affects the spine and joints. TM6SF2 variants have been implicated in the development of ankylosing spondylitis.
  • Type 1 diabetes: An autoimmune condition that affects insulin production. TM6SF2 variants have been linked to an increased risk of type 1 diabetes in some populations.

Did you Know ?

According to a large-scale genetic study, a specific variant in the TM6SF2 gene (rs1446284) has been found to be associated with a 50% increased risk of developing Crohn‘s disease.

Disclaimer: The information provided here is not exhaustive by any means. Always consult your doctor or other qualified healthcare provider with any questions you may have regarding a medical condition, procedure, or treatment, whether it is a prescription medication, over-the-counter drug, vitamin, supplement, or herbal alternative.