BTK
Primary Info
Mutation
Mouse studies
DNA sequencing


mRNA IDs Primary Information
NM_000061.1 Gene Symbol BTK
Protein Name Bruton agammaglobulinemia tyrosine kinase
Alternate Names AGMX1, AT, ATK, BPK, IMD1, MGC126261, MGC126262, PSCTK1, XLA
Gene Locus Xq21.33-q22

External links
IDR HPRD OMIM Entrez Gene NetPath Reactome PDB HGNC Ensembl Swiss-Prot RefDIC
22 02248 300300 695 NetPath_M695 695 1AWW
1AWX
1B55
1BTK
1BWN
1K2P
1QLY
2GE9
1133 ENSG00000010671 Q06187 BTK

Disease name Characteristic / Associated features Category inheritance type
X-linked agammaglobulinemia Otitis media; Hearing loss; Conjunctivitis; Sinusitis; Rudimentary adenoids; Rudimentary tonsils; Pneumonia; Hypoxemia and cor pulmonale; Enteroviral hepatitis; Diarrhea; Epididymitis; Prostatitis; Urinary tract infections; Septic arthritis; Pyoderma; Enteroviral dermatomyositis syndrome; Meningitis; Encephalitis; Delayed speech acquisition; recurrent bacterial infections; severe enteroviral infections; small lymph nodes; absent B-lymphocytes in all organs; Normal numbers of pro-B cells; absent plasma cells in all organs; increased incidence of rectosigmoid cancer; absent or severely reduced levels of serum immunoglobulins; susceptibility to infections start in the first year of life Predominantly antibody deficiencies X-linked recessive
X-linked agammaglobulinemia Short stature; hearing loss; enteroviral hepatitis; sinusitis recurrent otitis media; diarrhea; epididymitis; rhinitis; prostatitis; conjunctivitis; delayed skeletal maturation; panhypogammaglobulinemia; bronchiectasis; recurrent sinopulmonary infections; pneumonia; fever; septic arthritis; inflammatory myofibroblastic tumor; rash; Campylobacter jejuni infection; absent B cells; absent or severely reduced levels of serum immunoglobulins; delayed puberty; deficient growth hormone response to insulin, arginine, or levodopa; recurrent bacterial infections; severe enteroviral infections; small lymph nodes; absent B-lymphocytes in all organs; absent plasma cells in all organs; increased incidence of rectosigmoid cancer; susceptibility to infections start in the first year of life Predominantly antibody deficiencies X-linked recessive