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Aliases for IBTK Gene

Aliases for IBTK Gene

  • Inhibitor Of Bruton Agammaglobulinemia Tyrosine Kinase 2 3
  • Bruton Agammaglobulinemia Tyrosine Kinase Inhibitor 2 3
  • BTKI 3 4
  • Inhibitor Of Brutons Tyrosine Kinase-Alpha 3
  • Inhibitor Of Brutons Tyrosine Kinase-Gamma 3
  • Inhibitor Of Brutons Tyrosine Kinase-Beta 3
  • Inhibitor Of Brutons Tyrosine Kinase 3
  • Inhibitor Of Bruton Tyrosine Kinase 3
  • BTK-Binding Protein 3
  • KIAA1417 4
  • BTBD26 3
  • IBtk 4

External Ids for IBTK Gene

Previous HGNC Symbols for IBTK Gene

  • BTKI

Previous GeneCards Identifiers for IBTK Gene

  • GC06M082833
  • GC06M082875
  • GC06M082936
  • GC06M082879
  • GC06M080097

Summaries for IBTK Gene

Entrez Gene Summary for IBTK Gene

  • 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]

GeneCards Summary for IBTK Gene

IBTK (Inhibitor Of Bruton Agammaglobulinemia Tyrosine Kinase) is a Protein Coding gene. Among its related pathways are B cell receptor signaling pathway (KEGG). GO annotations related to this gene include protein kinase binding and protein tyrosine kinase inhibitor activity. An important paralog of this gene is RCBTB2.

UniProtKB/Swiss-Prot for IBTK Gene

  • Acts as an inhibitor of BTK tyrosine kinase activity, thereby playing a role in B-cell development. Down-regulates BTK kinase activity, leading to interference with BTK-mediated calcium mobilization and NF-kappa-B-driven transcription.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IBTK Gene

Genomics for IBTK Gene

Regulatory Elements for IBTK Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for IBTK Gene

Start:
82,169,983 bp from pter
End:
82,247,754 bp from pter
Size:
77,772 bases
Orientation:
Minus strand

Genomic View for IBTK Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IBTK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IBTK Gene

Proteins for IBTK Gene

  • Protein details for IBTK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2D0-IBTK_HUMAN
    Recommended name:
    Inhibitor of Bruton tyrosine kinase
    Protein Accession:
    Q9P2D0
    Secondary Accessions:
    • Q2QKU2
    • Q2QKU3
    • Q2QKU4
    • Q5TFD7
    • Q5TFD9
    • Q8IUQ9
    • Q8IUY7
    • Q8TAI4
    • Q9HBI8
    • Q9Y3T8

    Protein attributes for IBTK Gene

    Size:
    1353 amino acids
    Molecular mass:
    150528 Da
    Quaternary structure:
    • Interacts with the PH domain of BTK. Isoform 2 does not interact with BTK.
    SequenceCaution:
    • Sequence=AAG27170.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=BAA92655.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI23414.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI23416.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for IBTK Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IBTK Gene

Proteomics data for IBTK Gene at MOPED

Post-translational modifications for IBTK Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for IBTK Gene

No data available for DME Specific Peptides for IBTK Gene

Domains for IBTK Gene

Gene Families for IBTK Gene

HGNC:
  • ANKRD :Ankyrin repeat domain containing
  • BTBD :BTB/POZ domain containing

Suggested Antigen Peptide Sequences for IBTK Gene

Graphical View of Domain Structure for InterPro Entry

Q9P2D0

UniProtKB/Swiss-Prot:

IBTK_HUMAN :
  • Q9P2D0
Domain:
  • Contains 2 BTB (POZ) domains.
Similarity:
  • Contains 3 ANK repeats.
  • Contains 3 RCC1 repeats.
genes like me logo Genes that share domains with IBTK: view

Function for IBTK Gene

Molecular function for IBTK Gene

UniProtKB/Swiss-Prot Function: Acts as an inhibitor of BTK tyrosine kinase activity, thereby playing a role in B-cell development. Down-regulates BTK kinase activity, leading to interference with BTK-mediated calcium mobilization and NF-kappa-B-driven transcription.

Gene Ontology (GO) - Molecular Function for IBTK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0019901 protein kinase binding IDA 11577348
GO:0030292 protein tyrosine kinase inhibitor activity IDA 11577348
genes like me logo Genes that share ontologies with IBTK: view

Phenotypes for IBTK Gene

MGI mutant phenotypes for IBTK:
inferred from 1 alleles
GenomeRNAi human phenotypes for IBTK:
genes like me logo Genes that share phenotypes with IBTK: view

Animal Model Products

CRISPR Products

miRNA for IBTK Gene

miRTarBase miRNAs that target IBTK

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for IBTK Gene

Localization for IBTK Gene

Subcellular locations from UniProtKB/Swiss-Prot for IBTK Gene

Cytoplasm. Membrane; Peripheral membrane protein. Note=Translocates to the plasma membrane upon IgM stimulation.
Isoform 2: Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IBTK Gene COMPARTMENTS Subcellular localization image for IBTK gene
Compartment Confidence
nucleus 5
cytosol 3
extracellular 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for IBTK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA 11577348
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with IBTK: view

Pathways for IBTK Gene

SuperPathways for IBTK Gene

genes like me logo Genes that share pathways with IBTK: view

Pathways by source for IBTK Gene

1 BioSystems pathway for IBTK Gene

Gene Ontology (GO) - Biological Process for IBTK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001933 negative regulation of protein phosphorylation IDA 11577348
GO:0051209 release of sequestered calcium ion into cytosol IDA 11577348
GO:0061099 negative regulation of protein tyrosine kinase activity IDA 11577348
genes like me logo Genes that share ontologies with IBTK: view

Compounds for IBTK Gene

(1) HMDB Compounds for IBTK Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
genes like me logo Genes that share compounds with IBTK: view

Transcripts for IBTK Gene

Unigene Clusters for IBTK Gene

Inhibitor of Bruton agammaglobulinemia tyrosine kinase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IBTK

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for IBTK
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for IBTK Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^
SP1: -
SP2:
SP3:
SP4: -
SP5:
SP6:

ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29a · 29b ^ 30
SP1: - -
SP2: - -
SP3:
SP4:
SP5: -
SP6:

Relevant External Links for IBTK Gene

GeneLoc Exon Structure for
IBTK
ECgene alternative splicing isoforms for
IBTK

Expression for IBTK Gene

mRNA expression in normal human tissues for IBTK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for IBTK Gene

SOURCE GeneReport for Unigene cluster for IBTK Gene Hs.306425

mRNA Expression by UniProt/SwissProt for IBTK Gene

Q9P2D0-IBTK_HUMAN
Tissue specificity: Expressed in DeFew, HEK293T, HeLa and in Jurkat, MC3 and NB4 lymphoid cells (at protein level). Isoform 1 is the predominant isoform expressed in all examined tissues and cell lines. Highly expressed in hemopoietic tissues (fetal liver, spleen, lymph node, thymus, peripheral blood leukocytes and bone marrow). Weakly or not expressed in other tissues.
genes like me logo Genes that share expressions with IBTK: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for IBTK Gene

Orthologs for IBTK Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for IBTK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IBTK 35
  • 99.66 (n)
  • 99.41 (a)
IBTK 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IBTK 35
  • 92.09 (n)
  • 90.53 (a)
IBTK 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IBTK 35
  • 92.5 (n)
  • 91.27 (a)
IBTK 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ibtk 35
  • 85.2 (n)
  • 86.01 (a)
Ibtk 16
Ibtk 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IBTK 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 68 (a)
OneToMany
-- 36
  • 76 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ibtk 35
  • 81.63 (n)
  • 80.99 (a)
chicken
(Gallus gallus)
Aves IBTK 35
  • 74.74 (n)
  • 73.03 (a)
IBTK 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IBTK 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ibtk 35
  • 67.77 (n)
  • 66.09 (a)
Str.16202 35
zebrafish
(Danio rerio)
Actinopterygii ibtk 35
  • 60.1 (n)
  • 61.06 (a)
ibtk 36
  • 57 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009939 35
  • 43.96 (n)
  • 31.74 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8060 35
  • 42.41 (n)
  • 31.18 (a)
CG8060 36
  • 26 (a)
OneToOne
CG8060 37
  • 29 (a)
worm
(Caenorhabditis elegans)
Secernentea glo-4 36
  • 13 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SRM1 36
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
OneToOne
Species with no ortholog for IBTK:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for IBTK Gene

ENSEMBL:
Gene Tree for IBTK (if available)
TreeFam:
Gene Tree for IBTK (if available)

Paralogs for IBTK Gene

Paralogs for IBTK Gene

Selected SIMAP similar genes for IBTK Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for IBTK Gene

genes like me logo Genes that share paralogs with IBTK: view

Variants for IBTK Gene

Sequence variations from dbSNP and Humsavar for IBTK Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs187849 -- 82,219,204(+) ggttt(C/G)ctgca intron-variant
rs191802 -- 82,225,261(+) gctga(A/G)atcgc intron-variant
rs197238 -- 82,207,031(+) gacaa(G/T)gacaa intron-variant
rs197239 -- 82,208,505(+) gggag(A/G)ctgag intron-variant
rs197243 -- 82,173,134(-) ATGCC(A/G)GCTAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IBTK Gene

Variant ID Type Subtype PubMed ID
nsv830713 CNV Gain 17160897
nsv830715 CNV Loss 17160897
nsv7937 CNV Loss 18304495
nsv470837 CNV Gain 18288195
nsv5373 CNV Insertion 18451855
nsv510926 CNV Complex 20534489

Relevant External Links for IBTK Gene

HapMap Linkage Disequilibrium report
IBTK

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IBTK Gene

Disorders for IBTK Gene

Relevant External Links for IBTK

Genetic Association Database (GAD)
IBTK
genes like me logo Genes that share disorders with IBTK: view

No data available for UniProtKB/Swiss-Prot for IBTK Gene

Publications for IBTK Gene

  1. Direct inhibition of Bruton's tyrosine kinase by IBtk, a Btk-binding protein. (PMID: 11577348) Liu W. … Scala G. (Nat. Immunol. 2001) 2 3 4 23
  2. Physical and functional characterization of the genetic locus of IBtk, an inhibitor of Bruton's tyrosine kinase: evidence for three protein isoforms of IBtk. (PMID: 18596081) Spatuzza C. … Scala G. (Nucleic Acids Res. 2008) 3 4 23
  3. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T. … Ohara O. (DNA Res. 2000) 3 4
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for IBTK Gene

Sources for IBTK Gene

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