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Aliases for IBTK Gene

Aliases for IBTK Gene

  • Inhibitor Of Bruton Tyrosine Kinase 2 3 5
  • Bruton Agammaglobulinemia Tyrosine Kinase Inhibitor 2 3
  • BTKI 3 4
  • Inhibitor Of Bruton Agammaglobulinemia Tyrosine Kinase 2
  • Inhibitor Of Brutons Tyrosine Kinase-Alpha 3
  • Inhibitor Of Brutons Tyrosine Kinase-Gamma 3
  • Inhibitor Of Brutons Tyrosine Kinase-Beta 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 Tyrosine Kinase) is a Protein Coding gene. Diseases associated with IBTK include Agammaglobulinemia. Among its related pathways are B cell receptor signaling pathway (KEGG). Gene Ontology (GO) annotations related to this gene include protein kinase binding and protein tyrosine kinase inhibitor activity. An important paralog of this gene is RPGR.

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.

Additional gene information for IBTK Gene

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

Genomics for IBTK Gene

GeneHancer (GH) Regulatory Elements for IBTK Gene

Promoters and enhancers for IBTK Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I082245 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 560.7 +0.4 416 3.9 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B IBTK RNU6-130P TPBG PGM3 GC06P082230
GH06I082240 Promoter 0.5 EPDnew 550.4 +7.2 7204 0.1 IBTK GC06P082230
GH06I082259 Enhancer 1 ENCODE 14.8 -13.9 -13944 3.6 PKNOX1 ARNT FEZF1 ZNF2 ZNF213 ZNF302 FOS KLF13 SP3 REST GC06P082262 DOPEY1 UBE3D IBTK TPBG PGM3
GH06I081936 Enhancer 1.2 Ensembl ENCODE 10.6 +309.1 309103 3.7 FOXA2 SMAD1 MLX ARNT ARID4B DMAP1 YY1 ZNF766 FOS SP3 IBTK FAM46A ENSG00000260574 LINC01526 LINC02542
GH06I082206 Enhancer 0.9 ENCODE 11.3 +41.6 41562 0.3 PKNOX1 FOXA2 ARNT FEZF1 NCOA2 TCF12 GATA2 ATF7 RXRA NCOA1 IBTK RNU6-130P LINC02542
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around IBTK on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IBTK gene promoter:

Genomic Locations for IBTK Gene

Genomic Locations for IBTK Gene
chr6:82,169,983-82,247,754
(GRCh38/hg38)
Size:
77,772 bases
Orientation:
Minus strand
chr6:82,879,700-82,957,471
(GRCh37/hg19)

Genomic View for IBTK Gene

Genes around IBTK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IBTK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for IBTK Gene

No Post-translational modifications

No data available for DME Specific Peptides for IBTK Gene

Domains & Families for IBTK Gene

Gene Families for IBTK Gene

Suggested Antigen Peptide Sequences for IBTK Gene

Graphical View of Domain Structure for InterPro Entry

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

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

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IBTK gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for IBTK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
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 & Interactions 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

SIGNOR curated interactions for IBTK Gene

Is inactivated by:

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 IEA --
genes like me logo Genes that share ontologies with IBTK: view

Drugs & Compounds for IBTK Gene

(4) Drugs for IBTK Gene - From: ApexBio and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
AVL-292 Pharma Btk inhibitor 0
CGI-1746 Pharma Btk inhibitor 0
RN486 Pharma Btk inhibitor,potent and selective 0

(3) ApexBio Compounds for IBTK Gene

Compound Action Cas Number
AVL-292 Btk inhibitor 1202757-89-8
CGI-1746 Btk inhibitor 910232-84-7
RN486 Btk inhibitor,potent and selective 1242156-23-5
genes like me logo Genes that share compounds with IBTK: view

Drug Products

Transcripts for IBTK Gene

Unigene Clusters for IBTK Gene

Inhibitor of Bruton agammaglobulinemia tyrosine kinase:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for IBTK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for IBTK Gene

This gene is overexpressed in Nasal epithelium (59.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for IBTK Gene



NURSA nuclear receptor signaling pathways regulating expression of IBTK Gene:

IBTK

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.

Evidence on tissue expression from TISSUES for IBTK Gene

  • Nervous system(4.6)
  • Liver(4.3)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with IBTK: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.66 (n)
dog
(Canis familiaris)
Mammalia IBTK 33 34
  • 92.5 (n)
cow
(Bos Taurus)
Mammalia IBTK 33 34
  • 92.09 (n)
mouse
(Mus musculus)
Mammalia Ibtk 33 16 34
  • 85.2 (n)
rat
(Rattus norvegicus)
Mammalia Ibtk 33
  • 81.63 (n)
oppossum
(Monodelphis domestica)
Mammalia IBTK 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 76 (a)
OneToMany
-- 34
  • 68 (a)
OneToMany
chicken
(Gallus gallus)
Aves IBTK 33 34
  • 74.74 (n)
lizard
(Anolis carolinensis)
Reptilia IBTK 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ibtk 33
  • 67.77 (n)
Str.16202 33
zebrafish
(Danio rerio)
Actinopterygii ibtk 33 34
  • 60.1 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009939 33
  • 43.96 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8060 35 33 34
  • 42.41 (n)
worm
(Caenorhabditis elegans)
Secernentea glo-4 34
  • 13 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SRM1 34
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 38 (a)
OneToOne
Species where no ortholog for IBTK was found in the sources mined by GeneCards:
  • 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

(4) 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 Variation AA Info Type
rs193921029 uncertain-significance, Malignant tumor of prostate 82,191,142(-) T/A coding_sequence_variant, missense_variant
rs1000037774 -- 82,239,450(-) C/T intron_variant
rs1000161653 -- 82,226,902(-) G/A intron_variant
rs1000167036 -- 82,246,300(-) G/A intron_variant
rs1000208716 -- 82,201,318(-) G/A intron_variant

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

Variant ID Type Subtype PubMed ID
nsv470837 CNV gain 18288195
nsv476270 CNV novel sequence insertion 20440878
nsv479557 CNV novel sequence insertion 20440878
nsv479739 CNV novel sequence insertion 20440878
nsv480516 CNV novel sequence insertion 20440878
nsv481119 CNV novel sequence insertion 20440878
nsv481542 CNV novel sequence insertion 20440878
nsv510926 OTHER complex 20534489
nsv5373 CNV insertion 18451855
nsv7937 CNV loss 18304495
nsv830713 CNV gain 17160897
nsv830715 CNV loss 17160897

Variation tolerance for IBTK Gene

Residual Variation Intolerance Score: 15.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.64; 82.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IBTK Gene

Human Gene Mutation Database (HGMD)
IBTK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IBTK

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

Disorders for IBTK Gene

MalaCards: The human disease database

(1) MalaCards diseases for IBTK Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
agammaglobulinemia
  • hypogammaglobulinemia
- elite association - COSMIC cancer census association via MalaCards
Search IBTK in MalaCards View complete list of genes associated with diseases

Additional Disease Information for IBTK

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

No data available for UniProtKB/Swiss-Prot and Genatlas 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 (Nature immunology 2001) 2 3 4 22 58
  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 research 2008) 3 4 22 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58
  5. 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 research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 58

Products for IBTK Gene

Sources for IBTK Gene

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