Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Mutation | Interaction

Basic Information

Gene ID

695

Name

BTK

Synonymous

AGMX1|AT|ATK|BPK|IMD1|PSCTK1|XLA;Bruton agammaglobulinemia tyrosine kinase;BTK;Bruton agammaglobulinemia tyrosine kinase

Definition

B-cell progenitor kinase|agammaglobulinaemia tyrosine kinase|dominant-negative kinase-deficient Brutons tyrosine kinase|truncated Bruton agammaglobulinemia tyrosine kinase|tyrosine-protein kinase BTK|tyrosine-protein kinase BTK isoform (lacking exon 14)

Position

Xq21.33-q22

Gene type

protein-coding

Title

Abstract

Involvement of SLP-65 and Btk in tumor suppression and malignant transformation of pre-B cells.

Signals from the precursor-B cell receptor (pre-BCR) are essential for selection and clonal expansion of pre-B cells that have performed productive immunoglobulin heavy chain V(D)J recombination. In the mouse, the downstream signaling molecules SLP-65 and Btk cooperate to limit proliferation and induce differentiation of pre-B cells, thereby acting as tumor suppressors to prevent pre-B cell leukemia. In contrast, recent observations in human BCR-ABL1(+) pre-B lymphoblastic leukemia cells demonstrate that Btk is constitutively phosphorylated and activated by the BCR-ABL1 fusion protein. As a result, activated Btk transmits survival signals that are essential for the transforming activity of oncogenic Abl tyrosine kinase.

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