Home News About DMDM Database Statistics Research Publications Contact  

 
Click for a Larger Image
  Domain Name: SH2
Src homology 2 domains. Src homology 2 domains bind phosphotyrosine-containing polypeptides via 2 surface pockets. Specificity is provided via interaction with residues that are distinct from the phosphotyrosine. Only a single occurrence of a SH2 domain has been found in S. cerevisiae.

Total Mutations Found: 82
Total Disease Mutations Found: 47
This domain occurred 106 times on human genes (268 proteins).



  AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED
  B CELL-POSITIVE, NK CELL-NEGATIVE
  BASAL CELL CARCINOMA, SOMATIC
  GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY
  LEOPARD SYNDROME 1 (LEOPARD1)
  LEUKEMIA, JUVENILE MYELOMONOCYTIC (JMML)
  LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC
  LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
  METACHONDROMATOSIS
  NOONAN SYNDROME
  NOONAN SYNDROME 1
  NOONAN SYNDROME 1 (NS1)
  SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,
  SHORT SYNDROME


Tips:
 If you've navigated here from a protein, hovering over a position on the weblogo will display the corresponding protein position for that domain position.

 The histograms below the weblogo indicate mutations found on the domain. Red is for disease (OMIM) and blue is for SNPs.

 Functional Features are displayed as orange boxes under the histograms. You can choose which features are displayed in the box below.



Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for SH2














Weblogos are Copyright (c) 2002 Regents of the University of California




Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258