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Gene Ontology Classifications
Symbol
Name
ID
Btk
Bruton agammaglobulinemia tyrosine kinase
MGI:88216

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Btk. (This text reflects annotations as of Thursday, July 24, 2014.)
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
References
  1. Antony P et al. (2003) B cell receptor directs the activation of NFAT and NF-kappaB via distinct molecular mechanisms. Exp Cell Res, 291:11-24. (PubMed:14597404)
  2. Clayton E et al. (2002) A crucial role for the p110delta subunit of phosphatidylinositol 3-kinase in B cell development and activation. J Exp Med, 196:753-63. (PubMed:12235209)
  3. Iseki M et al. (2000) Molecular cloning of the mouse APS as a member of the Lnk family adaptor proteins. Biochem Biophys Res Commun, 272:45-54. (PubMed:10872802)
  4. Kikuchi Y et al. (2000) Identification and characterization of a molecule, BAM11, that associates with the pleckstrin homology domain of mouse Btk Int Immunol, 12:1397-408. (PubMed:11007757)
  5. Kraemer FB et al. (2004) Hormone-sensitive lipase is required for high-density lipoprotein cholesteryl ester-supported adrenal steroidogenesis. Mol Endocrinol, 18:549-57. (PubMed:14657254)
  6. Liu X et al. (2011) Intracellular MHC class II molecules promote TLR-triggered innate immune responses by maintaining activation of the kinase Btk. Nat Immunol, 12:416-24. (PubMed:21441935)
  7. Middendorp S et al. (2004) Cellular maturation defects in Bruton's tyrosine kinase-deficient immature B cells are amplified by premature B cell receptor expression and reduced by receptor editing. J Immunol, 172:1371-9. (PubMed:14734712)
  8. Nixon JC et al. (2004) Mutations in the DNA-binding domain of the transcription factor Bright act as dominant negative proteins and interfere with immunoglobulin transactivation. J Biol Chem, 279:52465-72. (PubMed:15456761)
  9. Papin J et al. (2004) Bioinformatics and cellular signaling. Curr Opin Biotechnol, 15:78-81. (PubMed:15102471)
  10. Wilm B et al. (2004) The forkhead genes, Foxc1 and Foxc2, regulate paraxial versus intermediate mesoderm cell fate. Dev Biol, 271:176-89. (PubMed:15196959)



Go Annotations in Tabular Form (Text View) (GO Graph)

 
 


Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory