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  Domain Name: SH2
Src homology 2 (SH2) domain. In general, SH2 domains are involved in signal transduction; they bind pTyr-containing polypeptide ligands via two surface pockets, a pTyr and hydrophobic binding pocket, allowing proteins with SH2 domains to localize to tyrosine phosphorylated sites. They are present in a wide array of proteins including: adaptor proteins (Nck1, Crk, Grb2), scaffolds (Slp76, Shc, Dapp1), kinases (Src, Syk, Fps, Tec), phosphatases (Shp-1, Shp-2), transcription factors (STAT1), Ras signaling molecules (Ras-Gap), ubiquitination factors (c-Cbl), cytoskeleton regulators (Tensin), signal regulators (SAP), and phospholipid second messengers (PLCgamma), amongst others.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 87
Total Disease Mutations Found: 48
This domain occurred 99 times on human genes (217 proteins).



  AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED
  B CELL-POSITIVE, NK CELL-NEGATIVE
  BASAL CELL CARCINOMA, SOMATIC
  DUANE RETRACTION SYNDROME 2
  GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY
  HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT
  LEOPARD SYNDROME 1 (LEOPARD1)
  LEUKEMIA, JUVENILE MYELOMONOCYTIC (JMML)
  LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC
  LYMPHOPROLIFERATIVE SYNDROME 1
  LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
  METACHONDROMATOSIS
  MYCOBACTERIAL AND VIRAL INFECTIONS, SUSCEPTIBILITY TO, AUTOSOMAL RECESSIVE
  NOONAN SYNDROME
  NOONAN SYNDROME 1
  NOONAN SYNDROME 1 (NS1)
  SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,
  SHORT SYNDROME


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
phosphotyrosine binding p
hydrophobic binding pocke












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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.

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