IBTK - inhibitor of Bruton tyrosine kinase Gene

Also Known as BTKI; BTBD26

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 25998

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 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
Others IBTK NCBI