Human Gene IBTK (ENST00000306270.12_10) from GENCODE V47lift37
  Description: inhibitor of Bruton tyrosine kinase, transcript variant 1 (from RefSeq NM_015525.4)
Gencode Transcript: ENST00000306270.12_10
Gencode Gene: ENSG00000005700.15_13
Transcript (Including UTRs)
   Position: hg19 chr6:82,879,704-82,957,461 Size: 77,758 Total Exon Count: 29 Strand: -
Coding Region
   Position: hg19 chr6:82,881,142-82,950,203 Size: 69,062 Coding Exon Count: 28 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:82,879,704-82,957,461)mRNA (may differ from genome)Protein (1353 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: IBTK_HUMAN
DESCRIPTION: RecName: Full=Inhibitor of Bruton tyrosine kinase; Short=IBtk;
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.
SUBUNIT: Interacts with the PH domain of BTK. Isoform 2 does not interact with BTK.
SUBCELLULAR LOCATION: Cytoplasm. Membrane; Peripheral membrane protein. Note=Translocates to the plasma membrane upon IgM stimulation.
SUBCELLULAR LOCATION: Isoform 2: Nucleus.
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.
SIMILARITY: Contains 3 ANK repeats.
SIMILARITY: Contains 2 BTB (POZ) domains.
SIMILARITY: Contains 3 RCC1 repeats.
SEQUENCE CAUTION: Sequence=AAG27170.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; Sequence=BAA92655.2; Type=Erroneous initiation; Sequence=CAI23414.1; Type=Erroneous gene model prediction; Sequence=CAI23416.1; Type=Erroneous gene model prediction;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: IBTK
Diseases sorted by gene-association score: agammaglobulinemia (16)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.50 RPKM in Adrenal Gland
Total median expression: 439.75 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -152.10540-0.282 Picture PostScript Text
3' UTR -311.901438-0.217 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002110 - Ankyrin_rpt
IPR020683 - Ankyrin_rpt-contain_dom
IPR000210 - BTB/POZ-like
IPR011333 - BTB/POZ_fold
IPR013069 - BTB_POZ
IPR000408 - Reg_chr_condens
IPR009091 - Reg_csome_cond/b-lactamase_inh

Pfam Domains:
PF00023 - Ankyrin repeat
PF00415 - Regulator of chromosome condensation (RCC1) repeat
PF00651 - BTB/POZ domain
PF12796 - Ankyrin repeats (3 copies)
PF13637 - Ankyrin repeats (many copies)

SCOP Domains:
140860 - Pseudo ankyrin repeat-like
50952 - Soluble quinoprotein glucose dehydrogenase
101898 - NHL repeat
50965 - Galactose oxidase, central domain
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
50985 - RCC1/BLIP-II
48403 - Ankyrin repeat
54695 - POZ domain

ModBase Predicted Comparative 3D Structure on Q9P2D0
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0019901 protein kinase binding
GO:0030292 protein tyrosine kinase inhibitor activity

Biological Process:
GO:0001933 negative regulation of protein phosphorylation
GO:0051209 release of sequestered calcium ion into cytosol
GO:0061099 negative regulation of protein tyrosine kinase activity

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  BC042171 - Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase, mRNA (cDNA clone IMAGE:5455086), partial cds.
BC035860 - Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase, mRNA (cDNA clone IMAGE:3924738), partial cds.
AK123460 - Homo sapiens cDNA FLJ41466 fis, clone BRSTN2017771, moderately similar to Homo sapiens BTK-binding protein mRNA.
AJ420593 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 684359.
AF235049 - Homo sapiens putative BTK-binding protein mRNA, complete cds.
BC027490 - Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase, mRNA (cDNA clone IMAGE:3924074), partial cds.
BC038244 - Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase, mRNA (cDNA clone IMAGE:5240896), partial cds.
DQ005635 - Homo sapiens inhibitor of Bruton's tyrosine kinase-gamma mRNA, complete cds.
AK126777 - Homo sapiens cDNA FLJ44825 fis, clone BRACE3046609, highly similar to Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.
AB037838 - Homo sapiens KIAA1417 mRNA for KIAA1417 protein.
DQ005633 - Homo sapiens inhibitor of Bruton's tyrosine kinase-alpha mRNA, complete cds.
AL050018 - Homo sapiens mRNA; cDNA DKFZp564B116 (from clone DKFZp564B116); partial cds.
JD360106 - Sequence 341130 from Patent EP1572962.
JD420572 - Sequence 401596 from Patent EP1572962.
JD207767 - Sequence 188791 from Patent EP1572962.
JD468605 - Sequence 449629 from Patent EP1572962.
JD505058 - Sequence 486082 from Patent EP1572962.
JD372625 - Sequence 353649 from Patent EP1572962.
AJ420588 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 2049662.
BC112929 - Homo sapiens cDNA clone IMAGE:6500006, containing frame-shift errors.
JD553955 - Sequence 534979 from Patent EP1572962.
JD091615 - Sequence 72639 from Patent EP1572962.
JD508972 - Sequence 489996 from Patent EP1572962.
JD313613 - Sequence 294637 from Patent EP1572962.
JD328098 - Sequence 309122 from Patent EP1572962.
JD563127 - Sequence 544151 from Patent EP1572962.
BC113696 - Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase, mRNA (cDNA clone MGC:142256 IMAGE:8322748), complete cds.
BC143736 - Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase, mRNA (cDNA clone MGC:177267 IMAGE:9052250), complete cds.
BC143748 - Homo sapiens cDNA clone IMAGE:9052262.
BC113698 - Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase, mRNA (cDNA clone MGC:142258 IMAGE:8322750), complete cds.
BC143745 - Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase, mRNA (cDNA clone MGC:177276 IMAGE:9052259), complete cds.
DQ005634 - Homo sapiens inhibitor of Bruton's tyrosine kinase-beta mRNA, complete cds.
BC027483 - Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase, mRNA (cDNA clone IMAGE:4388667), partial cds.
BC092410 - Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase, mRNA (cDNA clone IMAGE:6194327).
BC012551 - Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase, mRNA (cDNA clone IMAGE:4274392), with apparent retained intron.
LF208568 - JP 2014500723-A/16071: Polycomb-Associated Non-Coding RNAs.
LF377989 - JP 2014500723-A/185492: Polycomb-Associated Non-Coding RNAs.
JD026508 - Sequence 7532 from Patent EP1572962.
JD030755 - Sequence 11779 from Patent EP1572962.
JD019738 - Sequence 762 from Patent EP1572962.
JD032492 - Sequence 13516 from Patent EP1572962.
MA444145 - JP 2018138019-A/16071: Polycomb-Associated Non-Coding RNAs.
MA613566 - JP 2018138019-A/185492: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: BTKI, ENST00000306270.1, ENST00000306270.10, ENST00000306270.11, ENST00000306270.2, ENST00000306270.3, ENST00000306270.4, ENST00000306270.5, ENST00000306270.6, ENST00000306270.7, ENST00000306270.8, ENST00000306270.9, IBTK_HUMAN, KIAA1417, NM_015525, Q2QKU2, Q2QKU3, Q2QKU4, Q5TFD7, Q5TFD9, Q8IUQ9, Q8IUY7, Q8TAI4, Q9HBI8, Q9P2D0, Q9Y3T8, uc317nuo.1, uc317nuo.2
UCSC ID: ENST00000306270.12_10
RefSeq Accession: NM_015525.4
Protein: Q9P2D0 (aka IBTK_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.