Medical Knowledge Cockpit thrombocythemia

• no2-dependent il-12 pathway in nk cells
  species not specified one gene

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• inhibition of cellular proliferation by gleevec
  species not specified one gene

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• Herpes simplex infection
  Homo sapiens (human) one gene

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SH2B3

Somatic tumors

MPN, sAML, erythrocytosis, B-ALL

Tumor types germline

Cancer Syndrom

Translocation partner

Name

SH2B adaptor protein 3

Chromosome banding

12q24.12

Cancer molecular gen.

Rec

Mutation type

Mis, F, N

Other syndrome disease

Coeliac disease type 13; diabetes mellitus, insulin-dependent;

THPO

• Diagnosis and management of immune thrombocytopenia in the era of thrombopoietin mimetics

MPL

• Interferon-alpha directly represses megakaryopoiesis by inhibiting thrombopoietin-induced signaling through induction of SOCS-1.
• Thrombopoietin induces phosphoinositol 3-kinase activation through SHP2, Gab, and insulin receptor substrate proteins in BAF3 cells and primary murine megakaryocytes.
• Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT).

JAK2

• Complex formation of JAK2 with PP2A, P13K, and Yes in response to the hematopoietic cytokine interleukin-11
• Growth hormone stimulates the tyrosine phosphorylation and association of p125 focal adhesion kinase (FAK) with JAK2. Fak is not required for stat-mediated transcription
• Regulation of neutrophil adhesion by pituitary growth hormone accompanies tyrosine phosphorylation of Jak2, p125FAK, and paxillin
• Molecular characterization of specific interactions between SHP-2 phosphatase and JAK tyrosine kinases
• Tyrosine 425 within the activated erythropoietin receptor binds Syp, reduces the erythropoietin required for Syp tyrosine phosphorylation, and promotes mitogenesis

• SHPTP2 serves adapter protein linking between Janus kinase 2 and insulin receptor substrates

CALR

• Functional analysis of recombinant calreticulin fragment 39-272: implications for immunobiological activities of calreticulin in health and disease
• Suppressive roles of calreticulin in prostate cancer growth and metastasis
• Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study
• Novel mutations in the calreticulin gene core promoter and coding sequence in schizoaffective disorder

SH2B3

• Enhanced hematopoiesis by hematopoietic progenitor cells lacking intracellular adaptor protein, Lnk
• Lnk negatively regulates self-renewal of hematopoietic stem cells by modifying thrombopoietin-mediated signal transduction
• Lnk inhibits erythropoiesis and Epo-dependent JAK2 activation and downstream signaling pathways