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mutLBSgeneDB |
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| Gene summary for JAK3 |
 Gene summary |
| Basic gene Info. | Gene symbol | JAK3 |
| Gene name | Janus kinase 3 | |
| Synonyms | JAK-3|JAK3_HUMAN|JAKL|L-JAK|LJAK | |
| Cytomap | UCSC genome browser: 19p13.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000215.3, | |
| Description | Janus kinase 3 (a protein tyrosine kinase, leukocyte)leukocyte Janus kinasetyrosine-protein kinase JAK3 | |
| Modification date | 20141221 | |
| dbXrefs | MIM : 600173 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000105639 | ||
| HPRD : 02547 | ||
| Vega : OTTHUMG00000165648 | ||
| Protein | UniProt: P52333 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_JAK3 | |
| BioGPS: 3718 | ||
| Pathway | NCI Pathway Interaction Database: JAK3 | |
| KEGG: JAK3 | ||
| REACTOME: JAK3 | ||
| Pathway Commons: JAK3 | ||
| Context | iHOP: JAK3 | |
| ligand binding site mutation search in PubMed: JAK3 | ||
| UCL Cancer Institute: JAK3 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0035771 | interleukin-4-mediated signaling pathway | 7538655 | GO:0070670 | response to interleukin-4 | 7538655 |
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| Ligand binding site mutations for JAK3 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | F992 | W993S | BLCA | 1 | W1078 | C1077F | BRCA | 1 | D967 | G969V | LUAD | 1 | L956,N954 | I955F | OV | 1 | P1030 | P1030H | SKCM | 1 | W1011 | S1012R | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for JAK3 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | F992 | W993S | -1.5913552 | N954 | I955F | -0.9299421 | L956 | I955F | -0.9299421 | W1078 | C1077F | -0.83454277 | P1030 | P1030H | -0.68415539 | W1011 | S1012R | -0.63515986 | D967 | G969V | -0.23578557 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for JAK3 from PDB |
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| Differential gene expression and gene-gene network for JAK3 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for JAK3 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0085110 | Severe Combined Immunodeficiency | 44 | Biomarker, GeneticVariation |
| umls:C0349639 | Leukemia, Myelomonocytic, Juvenile | 1 | Biomarker |
| umls:C1862939 | Amyotrophic lateral sclerosis 1 | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for JAK3 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Experimental | DB04716 | 2-(1,1-DIMETHYLETHYL)9-FLUORO-3,6-DIHYDRO-7H-BENZ[H]-IMIDAZ[4,5-F]ISOQUINOLIN-7-ONE | Small molecule |  |
| Experimental | DB08183 | 3-{(3R,4R)-4-methyl-3-[methyl(7H-pyrrolo[2,3-d]pyrimidin-4-yl)amino]piperidin-1-yl}-3-oxopropanenitrile | Small molecule |  |
| Approved|investigational | DB08895 | Tofacitinib | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of JAK3 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | G9B | N-[3-(2-{3-AMINO-6-[1-(1-METHYLPIPERIDIN-4- YL)-1H-PYRAZOL-4-YL]PYRAZIN-2-YL}-1H- BENZIMIDAZOL-1-YL)PHENYL]PROPANAMIDE | 4v0g | A | D967 | PHU | 1-PHENYLUREA | 4i6q | A | F992 W1011 P1030 W1078 | 19S | 2-CYCLOPROPYL-N-[(2R)-1-OXO-1-(PIPERIDIN-1-YL)PROPAN-2- YL]-5H-PYRROLO[2,3-B]PYRAZINE-7-CARBOXAMIDE | 4hvi | A | L956 | 37Q | N-{1-[6-(PHENYLAMINO)PYRAZIN-2-YL]-1H-BENZIMIDAZOL-6- YL}PROP-2-ENAMIDE | 4qps | C | L956 | 4ST | 1,2,3,4-TETRAHYDROGEN-STAUROSPORINE | 1yvj | A | L956 D967 | 19Q | 2-CYCLOPROPYL-N-[(2S)-3-HYDROXY-3-METHYLBUTAN-2-YL]-5H- PYRROLO[2,3-B]PYRAZINE-7-CARBOXAMIDE | 4hvg | A | L956 D967 | 19R | 2-CYCLOPROPYL-N-[(2R)-3-HYDROXY-3-METHYLBUTAN-2-YL]-5H- PYRROLO[2,3-B]PYRAZINE-7-CARBOXAMIDE | 4hvh | A | L956 D967 | VFC | N-[(2R)-1-(3-CYANOAZETIDIN-1-YL)-1- OXIDANYLIDENE-PROPAN-2-YL]-2-(6-FLUORANYL-1-METHYL- INDAZOL-3-YL)-5H-PYRROLO[2,3-B]PYRAZINE-7- CARBOXAMIDE | 3zc6 | B | L956 D967 | VFC | N-[(2R)-1-(3-CYANOAZETIDIN-1-YL)-1- OXIDANYLIDENE-PROPAN-2-YL]-2-(6-FLUORANYL-1-METHYL- INDAZOL-3-YL)-5H-PYRROLO[2,3-B]PYRAZINE-7- CARBOXAMIDE | 3zc6 | D | L956 D967 | 1DT | N-[(1S)-1-CYCLOPROPYLETHYL]-2-PHENOXY-5H-PYRROLO[2,3- B]PYRAZINE-7-CARBOXAMIDE | 4i6q | A | L956 D967 | 1NX | 2-[[(3R)-3-ACETAMIDO-2,3-DIHYDRO-1H-INDEN-5- YL]OXY]-N-[(1S)-1-CYCLOPROPYLETHYL]-5H- PYRROLO[2,3-B]PYRAZINE-7-CARBOXAMIDE | 3zep | B | L956 D967 | 3C9 | 1-{(3S)-1-[(2-METHYLPROPYL)SULFONYL]PIPERIDIN-3-YL}-3- (5H-PYRROLO[2,3-B]PYRAZIN-2-YL)UREA | 4qt1 | A | L956 D967 | G9B | N-[3-(2-{3-AMINO-6-[1-(1-METHYLPIPERIDIN-4- YL)-1H-PYRAZOL-4-YL]PYRAZIN-2-YL}-1H- BENZIMIDAZOL-1-YL)PHENYL]PROPANAMIDE | 4v0g | B | L956 D967 | IZA | 2-(1,1-DIMETHYLETHYL)9-FLUORO-3,6-DIHYDRO-7H-BENZ[H]-IMIDAZ[4,5-F]ISOQUINOLIN-7-ONE | 3lxl | A | N954 L956 | 3QX | 4-{[(1R,2S)-2-FLUORO-2- METHYLCYCLOPENTYL]AMINO}PYRROLO[1,2-B]PYRIDAZINE-3- CARBOXAMIDE | 4rio | A | N954 L956 | MI1 | CP-690,550 | 3lxk | A | N954 L956 D967 | PJC | 3-(1H-INDOL-3-YL)-4-[2-(4-OXOPIPERIDIN-1-YL)-5-(TRIFLUOROMETHYL)PYRIMIDIN-4-YL]-1H-PYRROLE-2,5-DIONE | 3pjc | A | N954 L956 D967 | 933 | 2-CYCLOPROPYL-N-[(2S)-3,3-DIMETHYLBUTAN-2-YL]-5H- PYRROLO[2,3-B]PYRAZINE-7-CARBOXAMIDE | 4hvd | A | N954 L956 D967 | VFC | N-[(2R)-1-(3-CYANOAZETIDIN-1-YL)-1- OXIDANYLIDENE-PROPAN-2-YL]-2-(6-FLUORANYL-1-METHYL- INDAZOL-3-YL)-5H-PYRROLO[2,3-B]PYRAZINE-7- CARBOXAMIDE | 3zc6 | A | N954 L956 D967 | VFC | N-[(2R)-1-(3-CYANOAZETIDIN-1-YL)-1- OXIDANYLIDENE-PROPAN-2-YL]-2-(6-FLUORANYL-1-METHYL- INDAZOL-3-YL)-5H-PYRROLO[2,3-B]PYRAZINE-7- CARBOXAMIDE | 3zc6 | C | N954 L956 D967 | 1NX | 2-[[(3R)-3-ACETAMIDO-2,3-DIHYDRO-1H-INDEN-5- YL]OXY]-N-[(1S)-1-CYCLOPROPYLETHYL]-5H- PYRROLO[2,3-B]PYRAZINE-7-CARBOXAMIDE | 3zep | A | N954 L956 D967 | 1NX | 2-[[(3R)-3-ACETAMIDO-2,3-DIHYDRO-1H-INDEN-5- YL]OXY]-N-[(1S)-1-CYCLOPROPYLETHYL]-5H- PYRROLO[2,3-B]PYRAZINE-7-CARBOXAMIDE | 3zep | C | N954 L956 D967 | 1NX | 2-[[(3R)-3-ACETAMIDO-2,3-DIHYDRO-1H-INDEN-5- YL]OXY]-N-[(1S)-1-CYCLOPROPYLETHYL]-5H- PYRROLO[2,3-B]PYRAZINE-7-CARBOXAMIDE | 3zep | D | N954 L956 D967 | 37Q | N-{1-[6-(PHENYLAMINO)PYRAZIN-2-YL]-1H-BENZIMIDAZOL-6- YL}PROP-2-ENAMIDE | 4qps | A | N954 L956 D967 | PHU | 1-PHENYLUREA | 4hvd | A | W1011 P1030 W1078 |
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| Conservation information for LBS of JAK3 |
| Multiple alignments for P52333 in multiple species |
| LBS | AA sequence | # species | Species |
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