Diseases

SH2 domain proteins have been identified as altered in hereditary or sporadic human diseases.  Known mutations in the genes for 18 distinct SH2 domain proteins contribute to human disorders, including cancers and leukemias, developmental disorders, diabetes, and immunodeficiencies.  These can arise from either loss- or gain-of-function mutations in SH2 domains.

Additional information on SH2 domain mutations can be found at:

SH2base

Lappalainen I et al., Genome wide analysis of pathogenic SH2 domain mutations.  Proteins.  2008 Aug;72(2):779-92.