Annotation (Toggle Detail/Summary View) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene-Chemical Interaction Annotations
Gene-Chemical Interaction AnnotationsTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | (S)-nicotine | decreases expression | EXP | | 6480464 | Nicotine results in decreased expression of BTK mRNA | CTD | PMID:18247414 | 17alpha-ethynylestradiol | multiple interactions | ISO | RGD:1551411 | 6480464 | [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of BTK mRNA | CTD | PMID:17942748 | 17beta-estradiol | increases expression | EXP | | 6480464 | Estradiol results in increased expression of BTK mRNA | CTD | PMID:23373633 | 2,3,7,8-tetrachlorodibenzodioxine | multiple interactions | ISO | RGD:1551411 | 6480464 | [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of BTK mRNA | CTD | PMID:17942748 | 2-naphthylamine | increases expression | EXP | | 6480464 | 2-Naphthylamine results in increased expression of BTK mRNA | CTD | PMID:18247414 | benzo[a]pyrene | decreases expression | ISO | RGD:1551411 | 6480464 | Benzo(a)pyrene results in decreased expression of BTK mRNA | CTD | PMID:21569818 | benzo[a]pyrene | increases expression | EXP | | 6480464 | Benzo(a)pyrene results in increased expression of BTK mRNA | CTD | PMID:18247414 | calcium atom | affects transport | ISO | RGD:1551411 | 6480464 | BTK protein affects the transport of Calcium | CTD | PMID:12848851 | calcium(0) | affects transport | ISO | RGD:1551411 | 6480464 | BTK protein affects the transport of Calcium | CTD | PMID:12848851 | choline | multiple interactions | ISO | RGD:1551411 | 6480464 | [Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of BTK mRNA | CTD | PMID:20938992 | cocaine | decreases expression | ISO | RGD:1359683 | 6480464 | Cocaine results in decreased expression of BTK mRNA | CTD | PMID:17898221 | dasatinib (anhydrous) | multiple interactions | EXP | | 6480464 | dasatinib binds to and results in decreased activity of BTK protein | CTD | PMID:17684099 | dasatinib (anhydrous) | multiple interactions | EXP | | 6480464 | dasatinib binds to and results in decreased phosphorylation of BTK protein | CTD | PMID:18180381 | folic acid | multiple interactions | ISO | RGD:1551411 | 6480464 | [Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of BTK mRNA | CTD | PMID:20938992 | L-methionine | multiple interactions | ISO | RGD:1551411 | 6480464 | [Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of BTK mRNA | CTD | PMID:20938992 | mifepristone | increases expression | EXP | | 6480464 | Mifepristone results in increased expression of BTK mRNA | CTD | PMID:17584828 | sirolimus | multiple interactions | ISO | RGD:1551411 | 6480464 | Sirolimus inhibits the reaction [IL2 protein results in increased expression of BTK mRNA] | CTD | PMID:11355896 | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene Ontology Annotations
Molecular Pathway Annotations
Disease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Molecular Pathway Annotations
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| External Database Links | |
| KEGG Pathway | B cell receptor signaling pathway |
| Fc epsilon RI signaling pathway | |
| NF-kappa B signaling pathway | |
| Osteoclast differentiation | |
| Primary immunodeficiency | |
| Pathway Interaction Database | BCR signaling pathway (PID:200006) |
| Class I PI3K signaling events (PID:200116) | |
| EPO signaling pathway (PID:200183) | |
| FAS (CD95) signaling pathway (PID:200080) | |
| Fc-epsilon receptor I signaling in mast cells (PID:200004) | |
References - curated| 1. |
de Weers M, etal., Hum Mol Genet. 1994 Jan;3(1):161-6. |
| 2. |
GOA_HUMAN data from the GO Consortium |
| 3. |
Pipeline to import KEGG annotations from KEGG into RGD Pathway Ontology |
| 4. |
Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
| 5. |
Poole AW, etal., Trends Pharmacol Sci. 2004 Oct;25(10):528-35. |
| 6. |
RGD automated import pipeline for gene-chemical interactions |
| 7. |
RGD Automated Pipelines |
References - uncurated| PubMed | 10068673 |
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RGD Disease Portals| BTK has been annotated in the following RGD Disease Portals. |
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Comparative Map Data| BTK (Homo sapiens) |
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| Btk (Mus musculus) |
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| Btk (Rattus norvegicus) |
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Position Markers| RH70553 |
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| RH70566 |
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| RH93533 |
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| RH80171 |
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| G44349 |
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| GDB:376892 |
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| DXS7424 |
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| GDB:607597 |
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| BTK_4321 |
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| RH35738 |
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| BTK |
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| GDB:555569 |
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| GDB:555566 |
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| DXS178 |
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QTLs in Region (Human Genome Assembly GRCh37)| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
Nucleotide Sequences| Nucleotide RefSeqs | NG_009616 | (Get FASTA) | Search GEO for Microarray Profiles |
| NM_000061 | (Get FASTA) | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | ABBA01044974 | (Get FASTA) | Search GEO for Microarray Profiles |
| ABBA01044975 | (Get FASTA) | Search GEO for Microarray Profiles | |
| ABBA01044976 | (Get FASTA) | Search GEO for Microarray Profiles | |
| ABBA01044977 | (Get FASTA) | Search GEO for Microarray Profiles | |
| ABBA01044978 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AF153364 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AF153755 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AF153756 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AF153757 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AF153758 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AF153759 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AF153760 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AF153761 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AF153762 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AF153763 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AF153764 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AJ888376 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AJ888377 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AJ888378 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AJ888380 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AJ888381 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AK057105 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AK225577 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AK309851 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AK314382 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AL035422 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AM051275 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AM051276 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AM051277 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AM051278 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AM051279 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AM051280 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AM051281 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AM051282 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AM051283 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AM051284 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AM051285 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AM051286 | (Get FASTA) | Search GEO for Microarray Profiles | |
| AMYH01022725 | (Get FASTA) | Search GEO for Microarray Profiles | |
| BC109079 | (Get FASTA) | Search GEO for Microarray Profiles | |
| BC109080 | (Get FASTA) | Search GEO for Microarray Profiles | |
| CH471115 | (Get FASTA) | Search GEO for Microarray Profiles | |
| DA619542 | (Get FASTA) | Search GEO for Microarray Profiles | |
| DB636737 | (Get FASTA) | Search GEO for Microarray Profiles | |
| L31572 | (Get FASTA) | Search GEO for Microarray Profiles | |
| U10087 | (Get FASTA) | Search GEO for Microarray Profiles | |
| U13433 | (Get FASTA) | Search GEO for Microarray Profiles | |
| U78027 | (Get FASTA) | Search GEO for Microarray Profiles | |
| X58957 | (Get FASTA) | Search GEO for Microarray Profiles |
| RefSeq Acc Id: | NM_000061 | |||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||
| Protein Acc Id: | NP_000052 | |||||||||||||||||||||||||
| Position: |
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Protein Sequences| Protein RefSeqs | NP_000052 | (Get FASTA) |
| GenBank Protein | AAA61479 | (Get FASTA) |
| AAB60639 | (Get FASTA) | |
| AAB64205 | (Get FASTA) | |
| AAC51347 | (Get FASTA) | |
| AAF37332 | (Get FASTA) | |
| AAF37333 | (Get FASTA) | |
| AAF37334 | (Get FASTA) | |
| AAF37335 | (Get FASTA) | |
| AAF37336 | (Get FASTA) | |
| AAF37337 | (Get FASTA) | |
| AAF37338 | (Get FASTA) | |
| AAF37339 | (Get FASTA) | |
| AAF37340 | (Get FASTA) | |
| AAF37341 | (Get FASTA) | |
| AAF61477 | (Get FASTA) | |
| AAI09080 | (Get FASTA) | |
| AAI09081 | (Get FASTA) | |
| BAG37008 | (Get FASTA) | |
| BAG51864 | (Get FASTA) | |
| CAA41728 | (Get FASTA) | |
| CAI59836 | (Get FASTA) | |
| CAI59837 | (Get FASTA) | |
| CAI59839 | (Get FASTA) | |
| CAI59840 | (Get FASTA) | |
| CAI59842 | (Get FASTA) | |
| CAJ19681 | (Get FASTA) | |
| CAJ19682 | (Get FASTA) | |
| CAJ19683 | (Get FASTA) | |
| CAJ19684 | (Get FASTA) | |
| CAJ19685 | (Get FASTA) | |
| CAJ19686 | (Get FASTA) | |
| CAJ19687 | (Get FASTA) | |
| CAJ19688 | (Get FASTA) | |
| CAJ19689 | (Get FASTA) | |
| CAJ19690 | (Get FASTA) | |
| CAJ19691 | (Get FASTA) | |
| CAJ19692 | (Get FASTA) | |
| EAX02856 | (Get FASTA) | |
| EAX02857 | (Get FASTA) | |
| EAX02858 | (Get FASTA) | |
| Q06187 | (Get FASTA) |
Promoters| RGD ID: | 6808553 | ||||||||||
| Promoter ID: | HG_KWN:67499 | ||||||||||
| Type: | Non-CpG | ||||||||||
| SO ACC ID: | SO:0000170 | ||||||||||
| Source: | MPROMDB | ||||||||||
| Tissues & Cell Lines: | Lymphoblastoid | ||||||||||
| Transcripts: | OTTHUMT00000057531 | ||||||||||
| Position: |
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| RGD ID: | 6808550 | ||||||||||
| Promoter ID: | HG_KWN:67500 | ||||||||||
| Type: | Non-CpG | ||||||||||
| SO ACC ID: | SO:0000170 | ||||||||||
| Source: | MPROMDB | ||||||||||
| Tissues & Cell Lines: | Lymphoblastoid | ||||||||||
| Transcripts: | OTTHUMT00000057527 | ||||||||||
| Position: |
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| RGD ID: | 6808551 | ||||||||||
| Promoter ID: | HG_KWN:67501 | ||||||||||
| Type: | Non-CpG | ||||||||||
| SO ACC ID: | SO:0000170 | ||||||||||
| Source: | MPROMDB | ||||||||||
| Tissues & Cell Lines: | Lymphoblastoid | ||||||||||
| Transcripts: | OTTHUMT00000057528, UC004EHE.1, UC004EHF.1, UC004EHH.1, UC010NNH.1, UC010NNI.1, UC010NNJ.1, UC010NNK.1, UC010NNL.1, UC010NNM.1 | ||||||||||
| Position: |
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| RGD ID: | 6808552 | ||||||||||
| Promoter ID: | HG_KWN:67502 | ||||||||||
| Type: | Non-CpG | ||||||||||
| SO ACC ID: | SO:0000170 | ||||||||||
| Source: | MPROMDB | ||||||||||
| Tissues & Cell Lines: | Lymphoblastoid | ||||||||||
| Transcripts: | OTTHUMT00000057529 | ||||||||||
| Position: |
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| RGD ID: | 6808662 | ||||||||||
| Promoter ID: | HG_KWN:67503 | ||||||||||
| Type: | Non-CpG | ||||||||||
| SO ACC ID: | SO:0000170 | ||||||||||
| Source: | MPROMDB | ||||||||||
| Tissues & Cell Lines: | K562, Lymphoblastoid, NB4 | ||||||||||
| Transcripts: | ENST00000372855, ENST00000372859, ENST00000372860, ENST00000372869, ENST00000395179, NM_000061, OTTHUMT00000057530, UC004EHI.1, UC010NNN.1 | ||||||||||
| Position: |
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| RGD ID: | 6809249 | ||||||||||
| Promoter ID: | HG_KWN:67504 | ||||||||||
| Type: | CpG-Island | ||||||||||
| SO ACC ID: | SO:0000170 | ||||||||||
| Source: | MPROMDB | ||||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||||
| Transcripts: | ENST00000409170, ENST00000409338, OTTHUMT00000057547, OTTHUMT00000057548, OTTHUMT00000057553, OTTHUMT00000326775, OTTHUMT00000326777, UC004EHJ.1, UC010NNO.1 | ||||||||||
| Position: |
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| RGD ID: | 6872778 | ||||||||||
| Promoter ID: | EPDNEW_H9554 | ||||||||||
| Type: | initiation region | ||||||||||
| Name: | UTRN_2 | ||||||||||
| Description: | utrophin | ||||||||||
| SO ACC ID: | SO:0000170 | ||||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||||
| Position: |
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External Database Links| Database | Acc Id | Source(s) |
| COSMIC | BTK | COSMIC |
| Ensembl Genes | ENSG00000010671 | ENTREZGENE |
| Ensembl Protein | ENSP00000308176 | ENTREZGENE |
| Ensembl Transcript | ENST00000308731 | ENTREZGENE |
| Entrez Gene | 695 | ENTREZGENE |
| Gene3D-CATH | PH_type | UniProtKB/Swiss-Prot |
| SH2 | UniProtKB/Swiss-Prot | |
| Germonline | ENSG00000010671 | |
| HGNC ID | 1133 | ENTREZGENE |
| HomoloGene Group ID | 30953 | ENTREZGENE |
| HPRD ID | 02248 | ENTREZGENE |
| InterPro | Kinase-like_dom | UniProtKB/Swiss-Prot |
| PH_type | UniProtKB/Swiss-Prot | |
| Pleckstrin_homology | UniProtKB/Swiss-Prot | |
| Prot_kinase_cat_dom | UniProtKB/Swiss-Prot | |
| Protein_kinase_ATP_BS | UniProtKB/Swiss-Prot | |
| Ser-Thr/Tyr_kinase | UniProtKB/Swiss-Prot | |
| SH2 | UniProtKB/Swiss-Prot | |
| SH3_domain | UniProtKB/Swiss-Prot | |
| Tyr_kinase_AS | UniProtKB/Swiss-Prot | |
| Tyr_kinase_cat_dom | UniProtKB/Swiss-Prot | |
| Znf_Btk_motif | UniProtKB/Swiss-Prot | |
| IPI | IPI00029132 | UniProtKB/Swiss-Prot |
| IPI00646149 | UniProtKB/TrEMBL | |
| KEGG Report | hsa:695 | ENTREZGENE, UniProtKB/Swiss-Prot |
| OMIM | 300300 | OMIM |
| 300755 | OMIM | |
| 307200 | OMIM | |
| Pfam | BTK | UniProtKB/Swiss-Prot |
| PF00169 | UniProtKB/Swiss-Prot | |
| Pkinase_Tyr | UniProtKB/Swiss-Prot | |
| SH2 | UniProtKB/Swiss-Prot | |
| SH3_1 | UniProtKB/Swiss-Prot | |
| PharmGKB | PA25454 | PharmGKB |
| PRINTS | SH2DOMAIN | UniProtKB/Swiss-Prot |
| SH3DOMAIN | UniProtKB/Swiss-Prot | |
| TECBTKDOMAIN | UniProtKB/Swiss-Prot | |
| TYRKINASE | UniProtKB/Swiss-Prot | |
| PROSITE | PH_DOMAIN | UniProtKB/Swiss-Prot |
| PROTEIN_KINASE_ATP | UniProtKB/Swiss-Prot | |
| PROTEIN_KINASE_DOM | UniProtKB/Swiss-Prot | |
| PROTEIN_KINASE_TYR | UniProtKB/Swiss-Prot | |
| SH2 | UniProtKB/Swiss-Prot | |
| SH3 | UniProtKB/Swiss-Prot | |
| ZF_BTK | UniProtKB/Swiss-Prot | |
| SMART | BTK | UniProtKB/Swiss-Prot |
| SH2 | UniProtKB/Swiss-Prot | |
| SH3 | UniProtKB/Swiss-Prot | |
| SM00233 | UniProtKB/Swiss-Prot | |
| TyrKc | UniProtKB/Swiss-Prot | |
| Superfamily-SCOP | Kinase_like | UniProtKB/Swiss-Prot |
| SH3 | UniProtKB/Swiss-Prot | |
| UniGene | Hs.159494 | ENTREZGENE |
| UniProt | BTK_HUMAN | UniProtKB/Swiss-Prot |
| Q5JY90_HUMAN | UniProtKB/TrEMBL |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2011-08-16 | BTK | Bruton agammaglobulinemia tyrosine kinase | BTK | Bruton agammaglobulinemia tyrosine kinase | Symbol and/or name change | 39860 | APPROVED |
| More on BTK | |||
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Entrez Gene | ||
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Ensembl Gene | ||
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HGNC Report | ||
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NCBI Map Viewer | ||
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Vista | ||
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Vista + UCSC | ||
| RGD Object Information | |
| RGD ID: | 1342660 |
| Created: | 2005-03-08 |
| Species: | Homo sapiens |
| Last Modified: | 2013-03-26 |
| Status: | ACTIVE |
© Bioinformatics Program, HMGC at the Medical College of Wisconsin
RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.




