• Gene id: 25998

Gene Summary

• Gene Symbol: IBTK   Gene   UCSC   Ensembl
• Aliases: BTBD26, BTKI
• Gene name: inhibitor of Bruton tyrosine kinase
• Alternate names: inhibitor of Bruton tyrosine kinase, BTK-binding protein, Bruton agammaglobulinemia tyrosine kinase inhibitor, inhibitor of Bruton's tyrosine kinase-alpha, inhibitor of Bruton's tyrosine kinase-beta, inhibitor of Bruton's tyrosine kinase-gamma,
• Gene location: 6q14.1 (82247746: 82169986)     Exons: 30     NC_000006.12
• Gene summary(Entrez): 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-medi
• OMIM: 606457

Protein Summary

• Protein general information: Q9P2D0  
  • Name: Inhibitor of Bruton tyrosine kinase (IBtk)
  • Length: 1353  
  • Mass: 150528
  • 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
• Sequence:

  MSSPMPDCTSKCRSLKHALDVLSVVTKGSENQIKAFLSSHCYNAATIKDVFGRNALHLVSSCGKKGVLDWLIQKG
  VDLLVKDKESGWTALHRSIFYGHIDCVWSLLKHGVSLYIQDKEGLSALDLVMKDRPTHVVFKNTDPTDVYTWGDN
  TNFTLGHGSQNSKHHPELVDLFSRSGIYIKQVVLCKFHSVFLSQKGQVYTCGHGPGGRLGHGDEQTCLVPRLVEG
  LNGHNCSQVAAAKDHTVVLTEDGCVYTFGLNIFHQLGIIPPPSSCNVPRQIQAKYLKGRTIIGVAAGRFHTVLWT
  REAVYTMGLNGGQLGCLLDPNGEKCVTAPRQVSALHHKDIALSLVAASDGATVCVTTRGDIYLLADYQCKKMASK
  QLNLKKVLVSGGHMEYKVDPEHLKENGGQKICILAMDGAGRVFCWRSVNSSLKQCRWAYPRQVFISDIALNRNEI
  LFVTQDGEGFRGRWFEEKRKSSEKKEILSNLHNSSSDVSYVSDINSVYERIRLEKLTFAHRAVSVSTDPSGCNFA
  ILQSDPKTSLYEIPAVSSSSFFEEFGKLLREADEMDSIHDVTFQVGNRLFPAHKYILAVHSDFFQKLFLSDGNTS
  EFTDIYQKDEDSAGCHLFVVEKVHPDMFEYLLQFIYTDTCDFLTHGFKPRIHLNKNPEEYQGTLNSHLNKVNFHE
  DDNQKSAFEVYKSNQAQTVSERQKSKPKSCKKGKNIREDDPVRMLQTVAKKFDFSNLSSRLDGVRFENEKINVIA
  KNTGNKLKLSQKKCSFLCDVTMKSVDGKEFPCHKCVLCARLEYFHSMLSSSWIEASSCAALEMPIHSDILKVILD
  YLYTDEAVVIKESQNVDFICSVLVVADQLLITRLKEICEVALTEKLTLKNAAMLLEFAAMYSAKQLKLSCLQFIG
  LNMAALLEARSLDVLSDGVLKDLSEFYRKMIPAMDRRVITPYQDGPDISYLEVEDGDIFLKEEINMEQNHSETMF
  KKAKTKAKKKPRKRSDSSGGYNLSDIIQSPSSTGLLKSGKTNSVESLPELLTSDSEGSYAGVGSPRDLQSPDFTT
  GFHSDKIEAKVKPYVNGTSPVYSREDLKPWEKSPILKISAPQPIPSNRIDTTSSASWVAGSFSPVSPPVVDLRTI
  MEIEESRQKCGATPKSHLGKTVSHGVKLSQKQRKMIALTTKENNSGMNSMETVLFTPSKAPKPVNAWASSLHSVS
  SKSFRDFLLEEKKSVTSHSSGDHVKKVSFKGIENSQAPKIVRCSTHGTPGPEGNHISDLPLLDSPNPWLSSSVTA
  PSMVAPVTFASIVEEELQQEAALIRSREKPLALIQIEEHAIQDLLVFYEAFGNPEEFVIVERTPQGPLAVPMWNK
  HGC

• Structural information:
  • Protein Domains: (564..64-)
    (/note="BTB-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037-)
    (768..83-)
    (/note="BTB-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037"-)
  • Interpro: IPR002110  IPR020683  IPR036770  IPR000210  IPR009091   IPR000408  IPR011333  
  • Prosite: PS50297 PS50088 PS50097 PS50012
  • STRING: ENSP00000305721
• Other Databases: GeneCards:  IBTK  Malacards:  IBTK

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061099	negative regulation of protein tyrosine kinase activity	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0001933	negative regulation of protein phosphorylation	IDA	biological process
GO:0051209	release of sequestered calcium ion into cytosol	IDA	biological process
GO:0030292	protein tyrosine kinase inhibitor activity	IDA	molecular function
GO:0019901	protein kinase binding	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)