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Gene : BTK Homo sapiens

Name  ? Bruton tyrosine kinase Cytological Location  Xq22.1
Brief Description  Bruton tyrosine kinase
Description  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]
  • synonyms:
  • IMD1,
  • ATK,
  • AGMX1,
  • Bruton agammaglobulinemia tyrosine kinase,
  • XLA,
  • uc004ehg.3,
  • IGHD3,
  • ATK,
  • AGMX1,
  • BPK,
  • HGNC:1133,
  • XLA,
  • Bruton's tyrosine kinase,
  • AT,
  • BTK,
  • NM_000061,
  • OTTHUMG00000022022,
  • IMD1,
  • AK057105,
  • PSCTK1,
  • PSCTK1
  • identifiers:
  • 695,
  • ENSG00000010671,
  • BTK

Genome feature

Region: gene ? Length: 41347  
Location: X:101349450-101390796 reverse strand Cyto location: Xq22.1

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2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene Ontology

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3740 SNPs

5 Cross References

18 Data Sets

3 Homologues

2 Located Features

97 Rna Seq Results