MCID: JNS001
MIFTS: 31

Janus Kinase-3 Deficiency

Categories: Immune diseases

Aliases & Classifications for Janus Kinase-3 Deficiency

MalaCards integrated aliases for Janus Kinase-3 Deficiency:

Name: Janus Kinase-3 Deficiency 12 15
Janus Kinase 3 13

Classifications:



External Ids:

Disease Ontology 12 DOID:0060008

Summaries for Janus Kinase-3 Deficiency

MalaCards based summary : Janus Kinase-3 Deficiency, also known as janus kinase 3, is related to leukemia and graft-versus-host disease. An important gene associated with Janus Kinase-3 Deficiency is JAK3 (Janus Kinase 3). Affiliated tissues include myeloid, t cells and b cells, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 76 Janus kinase 3 deficiency or JAK3 deficiency is a defect in the body''s cytokine receptors and their... more...

Related Diseases for Janus Kinase-3 Deficiency

Graphical network of the top 20 diseases related to Janus Kinase-3 Deficiency:



Diseases related to Janus Kinase-3 Deficiency

Symptoms & Phenotypes for Janus Kinase-3 Deficiency

GenomeRNAi Phenotypes related to Janus Kinase-3 Deficiency according to GeneCards Suite gene sharing:

26 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.55 ACTB
2 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.55 LIG4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.55 ACTB
4 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.55 LIG4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.55 ACTB
6 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.55 LIG4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.55 ACTB LIG4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.55 LIG4
9 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.55 ACTB
10 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.55 ACTB
11 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.55 LIG4
12 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.55 ACTB LIG4
13 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.55 ACTB
14 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.55 LIG4
15 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.55 LIG4
16 Decreased homologous recombination repair frequency GR00151-A-1 9.26 ACTB LIG4
17 Decreased homologous recombination repair frequency GR00151-A-2 9.26 ACTB LIG4

MGI Mouse Phenotypes related to Janus Kinase-3 Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 8.92 ACTB JAK3 LIG4 PGM3

Drugs & Therapeutics for Janus Kinase-3 Deficiency

Search Clinical Trials , NIH Clinical Center for Janus Kinase-3 Deficiency

Genetic Tests for Janus Kinase-3 Deficiency

Anatomical Context for Janus Kinase-3 Deficiency

MalaCards organs/tissues related to Janus Kinase-3 Deficiency:

41
Myeloid, T Cells, B Cells, Bone, Bone Marrow, Heart, Spleen

Publications for Janus Kinase-3 Deficiency

Articles related to Janus Kinase-3 Deficiency:

(show top 50) (show all 56)
# Title Authors Year
1
Effect of temperature on the retention of Janus kinase 3 inhibitor in different mobile phase compositions using reversed-phase liquid chromatography. ( 30472589 )
2019
2
Structure-based design and synthesis of 1H-pyrazolo[3,4-d]pyrimidin-4-amino derivatives as Janus kinase 3 inhibitors. ( 30139575 )
2018
3
Identification of Cyanamide-Based Janus Kinase 3 (JAK3) Covalent Inhibitors. ( 30423248 )
2018
4
Chronic active Epstein-Barr virus infection as the initial symptom in a Janus kinase 3 deficiency child: Case report and literature review. ( 29049190 )
2017
5
Janus kinase 3 deficiency caused by a homozygous synonymous exonic mutation that creates a dominant splice site. ( 27956217 )
2017
6
Design of a Janus Kinase 3 (JAK3) Specific Inhibitor 1-((2S,5R)-5-((7H-Pyrrolo[2,3-d]pyrimidin-4-yl)amino)-2-methylpiperidin-1-yl)prop-2-en-1-one (PF-06651600) Allowing for the Interrogation of JAK3 Signaling in Humans. ( 28139931 )
2017
7
Ligand-based and e-pharmacophore modeling, 3D-QSAR and hierarchical virtual screening to identify dual inhibitors of spleen tyrosine kinase (Syk) and janus kinase 3 (JAK3). ( 27678281 )
2017
8
Regulation of Ion Channels, Cellular Carriers and Na(+)/K(+)/ATPase by Janus Kinase 3. ( 28164762 )
2017
9
Selective Inhibition of Janus Kinase 3 Has No Impact on Infarct Size or Neurobehavioral Outcomes in Permanent Ischemic Stroke in Mice. ( 28790974 )
2017
10
An Activating Janus Kinase-3 Mutation Is Associated with Cytotoxic T Lymphocyte Antigen-4-Dependent Immune Dysregulation Syndrome. ( 29375547 )
2017
11
Novel compound heterozygous mutations in a Japanese girl with Janus kinase 3 deficiency. ( 27593409 )
2016
12
Differential regulation of Janus kinase 3 (JAK3) in bovine preovulatory follicles and identification of JAK3 interacting proteins in granulosa cells. ( 27793176 )
2016
13
VX-509 (decernotinib) is a potent and selective janus kinase 3 inhibitor that attenuates inflammation in animal models of autoimmune disease. ( 25762693 )
2015
14
Discovery of VX-509 (Decernotinib): A Potent and Selective Janus Kinase 3 Inhibitor for the Treatment of Autoimmune Diseases. ( 26230873 )
2015
15
Janus kinase 3 regulates renal 25-hydroxyvitamin D 1α-hydroxylase expression, calcitriol formation, and phosphate metabolism. ( 25493954 )
2015
16
Synthesis and evaluation of 1H-pyrrolo[2,3-b]pyridine derivatives as novel immunomodulators targeting Janus kinase 3. ( 25786493 )
2015
17
Development of Selective Covalent Janus Kinase 3 Inhibitors. ( 26258521 )
2015
18
Impact of Janus Kinase 3 on Cellular Ca Release, Store Operated Ca(2+) Entry and Na(+)/Ca(2+) Exchanger Activity in Dendritic Cells. ( 26279433 )
2015
19
Highly selective Janus kinase 3 inhibitors based on a pyrrolo[2,3-d]pyrimidine scaffold: evaluation of WO2013085802. ( 24147573 )
2014
20
Janus kinase 3 activity is necessary for phosphorylation of cytosolic phospholipase A2 and prostaglandin E2 synthesis by macrophages infected with Francisella tularensis live vaccine strain. ( 24343645 )
2014
21
Downregulation of chloride channel ClC-2 by Janus kinase 3. ( 24615260 )
2014
22
Upregulation of excitatory amino acid transporters by coexpression of Janus kinase 3. ( 24928228 )
2014
23
Novel hinge-binding motifs for Janus kinase 3 inhibitors: a comprehensive structure-activity relationship study on tofacitinib bioisosteres. ( 25139757 )
2014
24
Hemagglutinin from the H5N1 virus activates Janus kinase 3 to dysregulate innate immunity. ( 22359619 )
2012
25
Identification of a potent Janus kinase 3 inhibitor with high selectivity within the Janus kinase family. ( 21155605 )
2011
26
Prevention of UVB-induced skin inflammation, genotoxicity, and photocarcinogenesis in mice by WHI-P131, a dual-function inhibitor of Janus kinase 3 and EGF receptor kinase. ( 20486473 )
2010
27
Chemoprevention of colorectal cancer by targeting Janus kinase 3 with a rationally designed small molecule inhibitor. ( 20924972 )
2010
28
Potent activity of a nucleoside reverse transcriptase inhibitor, 4'-ethynyl-2-fluoro-2'-deoxyadenosine, against human immunodeficiency virus type 1 infection in a model using human peripheral blood mononuclear cell-transplanted NOD/SCID Janus kinase 3 knockout mice. ( 19546363 )
2009
29
Downregulation of Janus kinase 3 expression by small interfering RNA in rat composite tissue allotransplantation. ( 19233270 )
2009
30
Expression of the signal transducer and activator of transcription factor 3 and Janus kinase 3 in colorectal carcinomas, colonic adenomas and ulcerative colitis. ( 24842133 )
2009
31
Cartilage preservation by inhibition of Janus kinase 3 in two rodent models of rheumatoid arthritis. ( 18234077 )
2008
32
Virtual screening to successfully identify novel janus kinase 3 inhibitors: a sequential focused screening approach. ( 18844338 )
2008
33
Effect of targeting janus kinase 3 on the development of intestinal tumors in the adenomatous polyposis coli(min) mouse model of familial adenomatous polyposis. ( 17688077 )
2007
34
Development of new pyrrolopyrimidine-based inhibitors of Janus kinase 3 (JAK3). ( 17189692 )
2007
35
Janus kinase 3-deficient T lymphocytes have an intrinsic defect in CCR7-mediated homing to peripheral lymphoid organs. ( 17521370 )
2007
36
Janus kinase 3 inhibition with CP-690,550 prevents allograft vasculopathy. ( 17081232 )
2006
37
Inhibition of the antigen-induced activation of rodent mast cells by putative Janus kinase 3 inhibitors WHI-P131 and WHI-P154 in a Janus kinase 3-independent manner. ( 15852029 )
2005
38
Prevention of acute lung allograft rejection in rat by the janus kinase 3 inhibitor, tyrphostin AG490. ( 16210130 )
2005
39
Unique advantage of Janus kinase 3 as a target for selective and nontoxic immunosuppression. ( 20476981 )
2005
40
Dual targeting of Bruton's tyrosine kinase and Janus kinase 3 with rationally designed inhibitors prevents graft-versus-host disease (GVHD) in a murine allogeneic bone marrow transplantation model. ( 15352986 )
2004
41
Review of T-cell activation: impact of Janus kinase 3 inhibition. ( 12822564 )
2003
42
Mapping the kinase domain of Janus Kinase 3. ( 12941344 )
2003
43
Prevention of CD40-triggered dendritic cell maturation and induction of T-cell hyporeactivity by targeting of Janus kinase 3. ( 14525593 )
2003
44
Prevention of islet allograft rejection in diabetic mice by targeting Janus Kinase 3 with 4-(4'-hydroxyphenyl)-amino-6,7-dimethoxyquinazoline (JANEX-1). ( 14558439 )
2003
45
The Epstein-Barr virus latent membrane protein 1 putative Janus kinase 3 (JAK3) binding domain does not mediate JAK3 association or activation in B-lymphoma or lymphoblastoid cell lines. ( 11739714 )
2002
46
Nonhematopoietic expression of Janus kinase 3 is required for efficient recruitment of Th2 lymphocytes and eosinophils in OVA-induced airway inflammation. ( 11859141 )
2002
47
Janus kinase 3 inhibitor WHI-P131/JANEX-1 prevents graft-versus-host disease but spares the graft-versus-leukemia function of the bone marrow allografts in a murine bone marrow transplantation model. ( 12010825 )
2002
48
Cutting edge: two distinct mechanisms lead to impaired T cell homeostasis in Janus kinase 3- and CTLA-4-deficient mice. ( 11145642 )
2001
49
Concomitant inhibition of Janus kinase 3 and calcineurin-dependent signaling pathways synergistically prolongs the survival of rat heart allografts. ( 11238613 )
2001
50
Role of Janus kinase 3 in mast cell-mediated innate immunity against gram-negative bacteria. ( 11520465 )
2001

Variations for Janus Kinase-3 Deficiency

Expression for Janus Kinase-3 Deficiency

Search GEO for disease gene expression data for Janus Kinase-3 Deficiency.

Pathways for Janus Kinase-3 Deficiency

GO Terms for Janus Kinase-3 Deficiency

Cellular components related to Janus Kinase-3 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 8.96 ACTB POTEF
2 cytoplasmic ribonucleoprotein granule GO:0036464 8.62 ACTB LIG4

Biological processes related to Janus Kinase-3 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 retina homeostasis GO:0001895 8.62 ACTB POTEF

Molecular functions related to Janus Kinase-3 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 8.8 ACTB JAK3 LIG4

Sources for Janus Kinase-3 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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