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gene: IBTK

id25998
symbolIBTK
organismHomo sapiens
full nameinhibitor of Bruton tyrosine kinase
summaryBruton tyrosine kinase (BTK) is a protein tyrosine kinase that is expressed in B cells, macrophages, and neutrophils. The protein encoded by this gene binds to BTK and downregulates BTK's kinase activity. In addition, the encoded protein disrupts BTK-mediated calcium mobilization and negatively regulates the activation of nuclear factor-kappa-B-driven transcription. This gene has a pseudogene on chromosome 18. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
variant-disease

NM_015525.4(IBTK):c.3506A>T (p.Asn1169Ile) AND Malignant tumor of prostate

GRCh37/hg19 6q13-14.2(chr6:73674612-84829774)x1 AND not provided

GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3 AND not provided

GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1 AND See cases

GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1 AND See cases

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