Gene: BTK

Alternate names for this Gene: AGMX1|AT|ATK|BPK|IGHD3|IMD1|PSCTK1|XLA

Gene Summary: 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.

Gene is located in Chromosome: X

Location in Chromosome : Xq22.1

Description of this Gene: Bruton tyrosine kinase

Type of Gene: protein-coding

rs1057520045 in BTK gene and Agammaglobulinemia PMID 10352268 1999 Early arrest in B cell development in transgenic mice that express the E41K Bruton's tyrosine kinase mutant under the control of the CD19 promoter region.

rs1057519825 in BTK gene and Mammary Neoplasms PMID 24869598 2014 Resistance mechanisms for the Bruton's tyrosine kinase inhibitor ibrutinib.

rs104894770 in BTK gene and X-linked agammaglobulinemia PMID 7633420 1995 Identification of Btk mutations in 20 unrelated patients with X-linked agammaglobulinaemia (XLA).

PMID 7849006 1995 Structural basis for pleckstrin homology domain mutations in X-linked agammaglobulinemia.

PMID 7849697 1994 Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase.

PMID 7633429 1995 Mutation analysis in Bruton's tyrosine kinase, the X-linked agammaglobulinaemia gene, including identification of an insertional hotspot.

PMID 8723128 1996 Detection of a novel mutation in the SRC homology domain 2 (SH2) of Bruton's tyrosine kinase and direct female carrier evaluation in a family with X-linked agammaglobulinemia.

PMID 10678660 2000 Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene.

PMID 7711734 1995 DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia.

PMID 8834236 1996 Mutations of the Btk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan.

PMID 8594569 1996 BTKbase, mutation database for X-linked agammaglobulinemia (XLA).

PMID 9016530 1997 BTKbase, mutation database for X-linked agammaglobulinemia (XLA)

PMID 9545398 1998 Mutations in btk in patients with presumed X-linked agammaglobulinemia.

PMID 7897635 1995 A new point mutation involving a highly conserved leucine in the Btk SH2 domain in a family with X linked agammaglobulinaemia.

PMID 8013627 1994 An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency.

PMID 8695804 1996 Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of Btk deficiency in Japan.

PMID 7849721 1994 Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families.

PMID 9260159 1997 Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemia.

PMID 9280283 1997 Missense mutations affecting a conserved cysteine pair in the TH domain of Btk.

PMID 7627183 1995 Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia.

PMID 10220140 1999 Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia.

PMID 10612838 2000 Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients.

PMID 11742281 2001 Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis.

PMID 9445504 1998 Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course.

PMID 27512878 2016 Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015).

PMID 11102984 2000 BTK mutations in patients with X-linked agammaglobulinemia: lack of correlation between presence of peripheral B lymphocytes and specific mutations.

PMID 19039656 2009 Mutation of the BTK gene and clinical feature of X-linked agammaglobulinemia in mainland China.

PMID 15661032 2005 Genetic analysis of patients with defects in early B-cell development.

PMID 16160918 2005 Severe neutropenia in Japanese patients with x-linked agammaglobulinemia.

PMID 19904586 2010 Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia.

PMID 21397315 2011 Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects.

PMID 16712653 2006 Identification of Bruton tyrosine kinase mutations in 12 Chinese patients with X-linked agammaglobulinaemia by long PCR-direct sequencing.

PMID 10887125 2000 Genetic defect in human X-linked agammaglobulinemia impedes a maturational evolution of pro-B cells into a later stage of pre-B cells in the B-cell differentiation pathway.

PMID 11809909 2002 Composition of precursor B-cell compartment in bone marrow from patients with X-linked agammaglobulinemia compared with healthy children.

PMID 12405164 2002 XLA patients with BTK splice-site mutations produce low levels of wild-type BTK transcripts.

PMID 12655572 2003 Bruton tyrosine kinase gene mutations in Argentina.

PMID 10737994 2000 Bruton's tyrosine kinase mutations in 8 Chinese families with X-linked agammaglobulinemia.

rs128620185 in BTK gene and X-linked agammaglobulinemia with growth hormone deficiency PMID 9143921 1997 Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia.

PMID 8939985 1996 Mutation of the pleckstrin homology domain of Bruton's tyrosine kinase in immunodeficiency impaired inositol 1,3,4,5-tetrakisphosphate binding capacity.

PMID 11668622 2001 Bruton tyrosine kinase gene mutations in Turkish patients with presumed X-linked agammaglobulinemia.

PMID 19904586 2010 Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia.

PMID 11472359 2001 Bruton's tyrosine kinase is present in normal platelets and its absence identifies patients with X-linked agammaglobulinaemia and carrier females.

PMID 7849721 1994 Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families.

PMID 12655572 2003 Bruton tyrosine kinase gene mutations in Argentina.

PMID 12217331 2002 Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study.

PMID 15661032 2005 Genetic analysis of patients with defects in early B-cell development.

PMID 18677443 2009 Clinical and molecular analysis of 49 patients with X-linked agammaglobulinemia from a single center in Argentina.

PMID 7880320 1994 Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia.

PMID 17765309 2008 Characterization of Bruton's tyrosine kinase mutations in Mexican patients with X-linked agammaglobulinemia.

PMID 11742281 2001 Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis.

PMID 16951917 2006 Four novel and three recurrent mutations of the BTK gene and pathogenic effects of putative splice mutations.

PMID 9445504 1998 Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course.

PMID 27980540 2016 Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand.

PMID 23424595 2013 X-linked agammaglobulinemia presenting with secondary hemophagocytic syndrome: a case report.

PMID 20529312 2010 The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review.

PMID 28359783 2017 Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes.

PMID 8695804 1996 Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of Btk deficiency in Japan.

PMID 9260159 1997 Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemia.

PMID 12204007 2002 Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia.

PMID 7711734 1995 DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia.

PMID 12405164 2002 XLA patients with BTK splice-site mutations produce low levels of wild-type BTK transcripts.

PMID 8938104 1996 Neutropenia in X-linked agammaglobulinemia.

PMID 9545398 1998 Mutations in btk in patients with presumed X-linked agammaglobulinemia.

PMID 7633429 1995 Mutation analysis in Bruton's tyrosine kinase, the X-linked agammaglobulinaemia gene, including identification of an insertional hotspot.

PMID 10737994 2000 Bruton's tyrosine kinase mutations in 8 Chinese families with X-linked agammaglobulinemia.