Human Gene BTK (uc010nnn.2)
  Description: Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.
RefSeq Summary (NM_000061): The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013].
Transcript (Including UTRs)
   Position: hg19 chrX:100,604,435-100,641,212 Size: 36,778 Total Exon Count: 17 Strand: -
Coding Region
   Position: hg19 chrX:100,604,873-100,630,272 Size: 25,400 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviews
Model InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:100,604,435-100,641,212)mRNA (may differ from genome)Protein (483 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMalacardsMGI
OMIMPubMedTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: Q5JY90_HUMAN
DESCRIPTION: SubName: Full=Bruton agammaglobulinemia tyrosine kinase; SubName: Full=Bruton agammaglobulinemia tyrosine kinase, isoform CRA_b; SubName: Full=Tyrosine-protein kinase BTK; SubName: Full=cDNA FLJ32543 fis, clone SMINT2000538, highly similar to Tyrosine-protein kinase BTK (EC 2.7.10.2);
SIMILARITY: Contains 1 PH domain.
SIMILARITY: Contains 1 SH3 domain.
SIMILARITY: Contains 1 protein kinase domain.

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): BTK
CDC HuGE Published Literature: BTK

-  MalaCards Disease Associations
  MalaCards Gene Search: BTK
Diseases sorted by gene-association score: agammaglobulinemia, x-linked 1* (1680), agammaglobulinemia and isolated hormone deficiency* (1366), agammaglobulinemia (117), mohr-tranebjaerg syndrome (17), isolated growth hormone deficiency (17), b cell deficiency (15), sinusitis (13), macroglobulinemia (12), growth hormone deficiency (12), congenital hypogammaglobulinemia (11), primary immunodeficiency disease (11), mast-cell leukemia (10), myd88 deficiency (9), wiskott-aldrich syndrome (9), common variable immunodeficiency (9), selective iga deficiency disease (8), pyoderma (8), immunodeficiency, x-linked, with hyper-igm (7), mantle cell lymphoma (7), irak4 deficiency (7), plasma protein metabolism disease (6), selective immunoglobulin deficiency disease (6), neurodermatitis (5), ecthyma (5)
* = Manually curated disease association

-  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: 52.79 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 153.89 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 -112.30358-0.314 Picture PostScript Text
3' UTR -129.40438-0.295 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
IPR011009 - Kinase-like_dom
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology
IPR000719 - Prot_kinase_cat_dom
IPR001245 - Ser-Thr/Tyr_kinase_cat_dom
IPR000980 - SH2
IPR001452 - SH3_domain
IPR001562 - Znf_Btk_motif

Pfam Domains:
PF00017 - SH2 domain
PF00018 - SH3 domain
PF00069 - Protein kinase domain
PF00169 - PH domain
PF00779 - BTK motif
PF07653 - Variant SH3 domain
PF07714 - Protein tyrosine kinase
PF14604 - Variant SH3 domain

SCOP Domains:
50044 - SH3-domain
50729 - PH domain-like
56112 - Protein kinase-like (PK-like)
55550 - SH2 domain

ModBase Predicted Comparative 3D Structure on Q5JY90
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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 Details     
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004672 protein kinase activity
GO:0004713 protein tyrosine kinase activity
GO:0004715 non-membrane spanning protein tyrosine kinase activity
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity

Biological Process:
GO:0006468 protein phosphorylation
GO:0016310 phosphorylation
GO:0018108 peptidyl-tyrosine phosphorylation
GO:0035556 intracellular signal transduction

Cellular Component:
GO:0005622 intracellular


-  Descriptions from all associated GenBank mRNAs
  KF241986 - Homo sapiens truncated Bruton agammaglobulinemia tyrosine kinase (BTK) mRNA, complete cds.
AK057105 - Homo sapiens cDNA FLJ32543 fis, clone SMINT2000538, highly similar to Tyrosine-protein kinase BTK (EC 2.7.10.2).
X58957 - H.sapiens atk mRNA for agammaglobulinaemia tyrosine kinase.
AM051281 - Homo sapiens partial mRNA for dominant-negative kinase-deficient Brutons tyrosine kinase isoform 7 (BTK kinase deficient isoform 7 gene), cell type TEL-AML1+ leukemia cells.
BC109079 - Homo sapiens Bruton agammaglobulinemia tyrosine kinase, mRNA (cDNA clone MGC:126261 IMAGE:40034287), complete cds.
BC109080 - Homo sapiens Bruton agammaglobulinemia tyrosine kinase, mRNA (cDNA clone MGC:126262 IMAGE:40034289), complete cds.
JD101417 - Sequence 82441 from Patent EP1572962.
AM051275 - Homo sapiens partial mRNA for dominant-negative kinase-deficient Brutons tyrosine kinase isoform 1 (BTK kinase deficient isoform 1 gene), cell type BCR-ABL1+ and MLL-AF4+ leukemia cells.
AM051276 - Homo sapiens partial mRNA for dominant-negative kinase-deficient Brutons tyrosine kinase isoform 2 (BTK kinase deficient isoform 2 gene), cell type MLL-AF4+ leukemia cells.
AM051277 - Homo sapiens partial mRNA for dominant-negative kinase-deficient Brutons tyrosine kinase isoform 3 (BTK kinase deficient isoform 3 gene), cell type MLL-AF4+ leukemia cells.
AM051278 - Homo sapiens partial mRNA for dominant-negative kinase-deficient Brutons tyrosine kinase isoform 4 (BTK kinase deficient isoform 4 gene), cell type BCR-ABL1+ leukemia cells.
AM051279 - Homo sapiens partial mRNA for dominant-negative kinase-deficient Brutons tyrosine kinase isoform 5 (BTK kinase deficient isoform 5 gene), cell type BCR-ABL1+ leukemia cells.
AM051280 - Homo sapiens partial mRNA for dominant-negative kinase-deficient Brutons tyrosine kinase isoform 6 (BTK kinase deficient isoform 6 gene), cell type BCR-ABL1+ leukemia cells.
AM051282 - Homo sapiens partial mRNA for dominant-negative kinase-deficient Brutons tyrosine kinase isoform 8 (BTK kinase deficient isoform 8 gene), cell type TEL-AML1+ leukemia cells.
AM051283 - Homo sapiens partial mRNA for dominant-negative kinase-deficient Brutons tyrosine kinase isoform 9 (BTK kinase deficient isoform 9 gene), cell type TEL-AML1+ leukemia cells.
AM051285 - Homo sapiens partial mRNA for dominant-negative kinase-deficient Brutons tyrosine kinase isoform 11 (BTK kinase deficient isoform 11 gene), cell type E2A-PBX1+ leukemia cells.
AM051286 - Homo sapiens partial mRNA for dominant-negative kinase-deficient Brutons tyrosine kinase isoform 12 (BTK kinase deficient isoform 12 gene), cell type E2A-PBX1+ leukemia cells.
AM051284 - Homo sapiens partial mRNA for dominant-negative kinase-deficient Brutons tyrosine kinase isoform 10 (BTK kinase deficient isoform 10 gene), cell type TEL-AML1+ leukemia cells.
AK309851 - Homo sapiens cDNA, FLJ99892.
AF153364 - Homo sapiens Bruton's tyrosine kinase mRNA, complete cds.
AF153756 - Homo sapiens Bruton's tyrosine kinase mRNA, complete cds.
AF153757 - Homo sapiens Bruton's tyrosine kinase mRNA, complete cds.
AF153758 - Homo sapiens Bruton's tyrosine kinase mRNA, complete cds.
AF153759 - Homo sapiens Bruton's tyrosine kinase mRNA, complete cds.
AF153760 - Homo sapiens Bruton's tyrosine kinase mRNA, complete cds.
AF153761 - Homo sapiens Bruton's tyrosine kinase mRNA, complete cds.
AF153762 - Homo sapiens Bruton's tyrosine kinase mRNA, complete cds.
AF153764 - Homo sapiens Bruton's tyrosine kinase mRNA, partial cds.
AK314382 - Homo sapiens cDNA, FLJ95155, highly similar to Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.
KJ890786 - Synthetic construct Homo sapiens clone ccsbBroadEn_00180 BTK gene, encodes complete protein.
KR711531 - Synthetic construct Homo sapiens clone CCSBHm_00025588 BTK (BTK) mRNA, encodes complete protein.
KR711532 - Synthetic construct Homo sapiens clone CCSBHm_00025631 BTK (BTK) mRNA, encodes complete protein.
KR711533 - Synthetic construct Homo sapiens clone CCSBHm_00025709 BTK (BTK) mRNA, encodes complete protein.
KR711534 - Synthetic construct Homo sapiens clone CCSBHm_00025787 BTK (BTK) mRNA, encodes complete protein.
AJ888376 - Homo sapiens partial mRNA for tyrosine-protein kinase BTK isoform 65 (BTK gene), tissue type BCR-ABL1+ pre-B lymphoblastic leukemia.
AJ888379 - Homo sapiens partial mRNA for tyrosine-protein kinase BTK isoform (lacking exon 13 to 17) (BTK gene), tissue type BCR-ABL1+ pre-B lymphoblastic leukemia.
AJ888380 - Homo sapiens partial mRNA for tyrosine-protein kinase BTK isoform (lacking exon 15 to 18) (BTK gene), tissue type BCR-ABL1+ pre-B lymphoblastic leukemia.
AB590081 - Synthetic construct DNA, clone: pFN21AE0996, Homo sapiens BTK gene for Bruton agammaglobulinemia tyrosine kinase, without stop codon, in Flexi system.
AJ888378 - Homo sapiens partial mRNA for tyrosine-protein kinase BTK isoform 52 (BTK gene), tissue type BCR-ABL1+ pre-B lymphoblastic leukemia.
AJ888381 - Homo sapiens partial mRNA for tyrosine-protein kinase BTK isoform (lacking exon 14) (BTK gene), tissue type BCR-ABL1+ pre-B lymphoblastic leukemia.
AJ888377 - Homo sapiens partial mRNA for tyrosine-protein kinase BTK isoform 51 (BTK gene), tissue type BCR-ABL1+ pre-B lymphoblastic leukemia.
AK225577 - Homo sapiens mRNA for Bruton agammaglobulinemia tyrosine kinase variant, clone: LNG09949.
AF153763 - Homo sapiens Bruton's tyrosine kinase mRNA, partial cds.
DL491428 - Novel nucleic acids.
AF153755 - Homo sapiens Bruton's tyrosine kinase mRNA, partial cds.
JD284811 - Sequence 265835 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04662 - B cell receptor signaling pathway
hsa04664 - Fc epsilon RI signaling pathway
hsa05340 - Primary immunodeficiency

BioCarta from NCI Cancer Genome Anatomy Project
h_bcrPathway - BCR Signaling Pathway
h_ptdinsPathway - Phosphoinositides and their downstream targets.
h_fcer1Pathway - Fc Epsilon Receptor I Signaling in Mast Cells

-  Other Names for This Gene
  Alternate Gene Symbols: AK057105, hCG_20400, NM_000061, NP_000052, Q5JY90, Q5JY90_HUMAN, RP1-164F3.2-007
UCSC ID: uc010nnn.2
RefSeq Accession: NM_000061
Protein: Q5JY90

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene BTK:
xla (X-Linked Agammaglobulinemia)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK057105.1
exon count: 17CDS single in 3' UTR: no RNA size: 2202
ORF size: 1452CDS single in intron: no Alignment % ID: 99.91
txCdsPredict score: 2141.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.