QuickView for BTK (gene)

Gene Symbol:

BTK Homo sapiens

Full name:

Bruton tyrosine kinase

Synonyms:

AGMX1, AT, ATK, BPK, IMD1, PSCTK1, XLA, tyrosine-protein kinase BTK, B-cell progenitor kinase, Bruton agammaglobulinemia tyrosine kinase, Bruton's tyrosine kinase, agammaglobulinaemia tyrosine kinase, dominant-negative kinase-deficient Brutons tyrosine kinase, truncated Bruton agammaglobulinemia tyrosine kinase, tyrosine-protein kinase BTK isoform (lacking exon 13 to 17), tyrosine-protein kinase BTK isoform (lacking exon 14)

Genomic Location:

Chr X: 100491098-100527838

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 va...

View Full 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.

View Less

Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

OCT1_05 ,  SMTTTTGT_UNKNOWN ,  AP1_C ,  TGANTCA_AP1_C ,  OCT1_B ,  RYTTCCTG_ETS2_B ,  P53_DECAMER_Q2 ,  TGANNYRGCA_TCF11MAFG_01 ,  OCT1_01 ,  OCT_Q6 ,  AP1_Q6 ,  OCT1_Q5_01 ,  AR_Q6 ,  OCT1_Q6 ,  NFE2_01 ,  AP1_Q6_01 ,  DBP_Q6 ,  CAGGTA_AREB6_01 ,  CDX2_Q5 ,  STAT5B_01 ,  AP1_01 ,  GR_Q6 ,  ZID_01 ,  NRF2_Q4 ,  AP1_Q4 ,  BACH1_01 ,  T3R_Q6 ,  TTCYNRGAA_STAT5B_01 ,  GRE_C ,  PAX4_03 ,  AP1_Q4_01 ,  GGGTGGRR_PAX4_03 ,  TCF11MAFG_01 ,  STAT5A_02 ,  TGASTMAGC_NFE2_01 ,  TCF11_01

View More

View Less

Cytogenetic Map:

Xq22.1

search → result