INT216290

Context Info Confidence 0.48 First Reported 2001 Last Reported 2001 Negated 0 Speculated 0 Reported most in Body Documents 1 Total Number 2 Disease Relevance 1.48 Pain Relevance 0

lipid binding (BTK) cytosol (BTK) plasma membrane (BTK) nucleus (BTK) cytoplasm (BTK)

Anatomy Link Frequency B cells 2 BTK (Homo sapiens)

Pain Link Frequency Relevance Heat Angina 2 5.00

Disease Link Frequency Relevance Heat Agammaglobulinemia 92 96.96 Disease 2 86.40 Immunodeficiency 10 73.04 Infection 12 62.40 Pneumonia 8 50.00 Cytomegalovirus Infection 2 30.40 Togavirus Infection 2 29.52 Measles 2 28.96 Acquired Immune Deficiency Syndrome Or Hiv Infection 2 17.68 Liver Failure 2 12.20

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Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

This deletion places a stop codon just downstream, thus producing a truncated BTK protein with 604 amino acid residues instead of the normal BTK protein with 659 residues (Fig. 1C,D).

Positive_regulation (truncated) of Gene_expression (producing) of BTK

1) Confidence 0.48 Published 2001 Journal Respir Res Section Body Doc Link PMC2092384 Disease Relevance 0.53 Pain Relevance 0

Monocytes with deleted BTK are not representative of all that is happening in the B cells, despite the fact that the detection of the BTK production in monocytes by flow cytometry is a powerful diagnostic tool for screening XLA patients.

Positive_regulation (detection) of Gene_expression (production) of BTK in B cells associated with agammaglobulinemia

2) Confidence 0.48 Published 2001 Journal Respir Res Section Body Doc Link PMC2092384 Disease Relevance 0.95 Pain Relevance 0

General Comments

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