1. Gene
  2. IBTK - inhibitor of Bruton tyrosine kinase Gene

IBTK - inhibitor of Bruton tyrosine kinase Gene

Homo sapiens

Also known as BTKI; BTBD26

Gene ID: 25998 | Gene type: protein coding

About IBTK

Cytogenetic location: 6q14.1 Genomic coordinates (GRCh38): 6:82,169,987-82,247,744 (from NCBI)

This gene has 10 transcripts (splice variants), 1 gene allele and 212 orthologues. Ubiquitous expression in adrenal (RPKM 16.4), thyroid (RPKM 13.7) and 25 other tissues.

Summary

Bruton 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]

IBTK Products(2)

mRNA Protein Name
NM_001300906.2 NP_001287835.1 inhibitor of Bruton tyrosine kinase isoform 2
NM_015525.4 NP_056340.2 inhibitor of Bruton tyrosine kinase isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein kinase binding IDA
IDA: Inferred from direct assay
11577348 GOA
enables protein tyrosine kinase inhibitor activity IDA
IDA: Inferred from direct assay
11577348 GOA
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within negative regulation of protein phosphorylation IDA
IDA: Inferred from direct assay
11577348 GOA
acts upstream of or within release of sequestered calcium ion into cytosol IDA
IDA: Inferred from direct assay
11577348 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IDA
IDA: Inferred from direct assay
11577348 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

IBTK Protein Structure

Ank_2

Ank_2: Ankyrin repeats (3 copies) (25 - 115)

RCC1

RCC1: Regulator of chromosome condensation (RCC1) repeat (144 - 192)

RCC1

RCC1: Regulator of chromosome condensation (RCC1) repeat (195 - 244)

RCC1

RCC1: Regulator of chromosome condensation (RCC1) repeat (247 - 298)

BTB

BTB: BTB/POZ domain (561 - 642)

BTB

BTB: BTB/POZ domain (761 - 870)

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  • 1353 a.a.
Protein Preferred Names Protein Names

inhibitor of Bruton tyrosine kinase

BTK-binding protein

Related Diseases

Diseases Alias
Agammaglobulinemia

Hypogammaglobulinemia

Ighm

Mu Heavy Chain Deficiency

Mu-Heavy Chain Disease

Mu-Hcd

Mu-Chain Disease

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma

Cll/Sll

B-Cell Lymphocytic Leukemia/Small Lymphocytic Lymphoma

Icdo:9823/3

Chronic Lymphocytic Leukaemia Of B-Cell Type Without Mention Of Remission

Small Cell B-Cell Lymphoma

Keratoconus

Kc

Conical Cornea

Noninflammatory Corneal Thining

Bulging Cornea

Cornea Conical

Acquired Conus Of Cornea

Mantle Cell Lymphoma

Lymphoma, Mantle Cell

Lcm

Mcl

Mantle Zone Lymphoma

Lymphoma Mantle-Cell

Lymphoma, Mantle-Cell

Malignant Lymphoma, Lymphocytic, Intermediate Differentiation, Diffuse

Malignant Lymphoma - Lymphocytic, Intermediate Differentiation

Diffuse Small Cleaved-Cell Lymphoma

Diffuse Small Cleaved Cell Malignant Lymphoma

Small Cleaved Cell Non-Hodgkin Lymphoma

Diffuse Non-Hodgkin Small Cleaved Cell Lymphoma

Malignant Lymphomatous Polyposis

Malignant Small Cell, Noncleaved, Diffuse Lymphoma

Malignant Undifferentiated Cell, Non-Burkitt Lymphoma

Cleaved Cell Lymphoma

Small Cell Mantle Cell Lymphoma

Small Cleaved Cell Malignant Lymphoma

Leukemia, Chronic Lymphocytic

Chronic Lymphocytic Leukemia

B-Cell Chronic Lymphocytic Leukemia

CLL

B-Cell Chronic Lymphoid Leukemia

Chronic Lymphatic Leukemia

Chronic Lymphocytic Leukaemia

Lymphoplasmacytic Leukemia

Small Lymphocytic Lymphoma

Leukemia, Chronic Lymphatic

B-Cell Chronic Lymphocytic Leukaemia

Chronic Lymphatic Leukaemia

Lymphoplasmacytic Leukaemia

B Cell Chronic Lymphocytic Leukemia

Chronic B-Cell Lymphocytic Leukemia

Leukemia, Lymphocytic, Chronic

B-Cll

Chronic Lymphoid Leukemia

Leukemia Lymphocytic Chronic

Lymphoma Small Lymphocytic

Leukemia, Lymphocytic, Chronic, B-Cell

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus IBTK VGNC VGNC:30022
Felis catus IBTK VGNC VGNC:62865
Rattus norvegicus IBTK RGD RGD:1311697
Mus musculus IBTK MGD MGI:1918677
Canis familiaris IBTK VGNC VGNC:41853
Macaca mulatta IBTK VGNC VGNC:73409