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].

National Library of Medicine.

  • Nucleotide binding
  • Protein kinase activity
  • Enables protein serine/threonine/tyrosine kinase activity
  • Enables protein tyrosine kinase activity
  • Transmembrane receptor protein tyrosine kinase activity
  • Located in nucleus
  • Located in cytoplasm
  • Located in cytosol
  • Located in plasma membrane
  • Membrane
  • Involved in positive regulation of type III hypersensitivity
  • Involved in positive regulation of type I hypersensitivity
  • Involved in negative regulation of cytokine production
  • Involved in adaptive immune response
  • Involved in B cell affinity maturation
  • Abnormality of body height
  • Recurrent urinary tract infections
  • Abnormality of male internal genitalia
  • Prostatitis
  • Epididymitis
  • Abnormality of the genital system
  • Abnormality of the urinary system
  • Abnormality of the genitourinary system
  • Abnormality of head or neck
  • Abnormality of the mouth
  • Abnormality of the tongue
  • Glossoptosis
  • Abnormal oral cavity morphology
  • Abnormality of the head
  • Abnormal paranasal sinus morphology
  • Sinusitis
  • Abnormality of the face
  • Abnormality of the orbital region
  • Abnormality of the musculoskeletal system
  • Hearing abnormality
  • Hearing impairment
  • Abnormality of the middle ear
  • Otitis media
  • Chronic otitis media
  • Recurrent otitis media
  • Sensorineural hearing impairment
  • Abnormal liver morphology
  • Abnormality of the eye
  • Abnormal conjunctiva morphology
  • Conjunctivitis
  • Abnormality of the ear
  • Abnormality of the nervous system
  • Delayed speech and language development
  • Abnormal internal genitalia
  • Abnormality of the endocrine system
  • Delayed puberty
  • Decreased response to growth hormone stimulation test

BTK Localizations – Subcellular Localization Database

Andrei LomizePleckstrin homology domain (PH domain) of tyrosine-protein kinase Bruton-Tyrosinkinase (BTK) Protein image from OPM database.

Gene Location