Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3718
Gene name Gene Name - the full gene name approved by the HGNC.
Janus kinase 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
JAK3
Synonyms (NCBI Gene) Gene synonyms aliases
JAK-3, JAK3_HUMAN, JAKL, L-JAK, LJAK
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.11
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces a signal in response t
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs3212723 G>T Likely-benign, benign, likely-pathogenic Coding sequence variant, missense variant
rs3213409 C>T Likely-benign, benign, likely-pathogenic Genic downstream transcript variant, coding sequence variant, missense variant
rs121913504 G>A Likely-pathogenic Coding sequence variant, missense variant
rs137852624 T>C Pathogenic Coding sequence variant, missense variant
rs137852625 G>T Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017636 hsa-miR-335-5p Microarray 18185580
MIRT643205 hsa-miR-504-5p HITS-CLIP 23824327
MIRT643204 hsa-miR-3620-3p HITS-CLIP 23824327
MIRT643203 hsa-miR-1273g-3p HITS-CLIP 23824327
MIRT643201 hsa-miR-4292 HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade TAS
GO:0002250 Process Adaptive immune response IEA
GO:0002731 Process Negative regulation of dendritic cell cytokine production ISS
GO:0004713 Function Protein tyrosine kinase activity ISS
GO:0004713 Function Protein tyrosine kinase activity TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600173 6193 ENSG00000105639
Protein
UniProt ID P52333
Protein name Tyrosine-protein kinase JAK3 (EC 2.7.10.2) (Janus kinase 3) (JAK-3) (Leukocyte janus kinase) (L-JAK)
Protein function Non-receptor tyrosine kinase involved in various processes such as cell growth, development, or differentiation. Mediates essential signaling events in both innate and adaptive immunity and plays a crucial role in hematopoiesis during T-cells de
PDB 1YVJ , 3LXK , 3LXL , 3PJC , 3ZC6 , 3ZEP , 4HVD , 4HVG , 4HVH , 4HVI , 4I6Q , 4QPS , 4QT1 , 4RIO , 4V0G , 4Z16 , 5LWM , 5LWN , 5TOZ , 5TTS , 5TTU , 5TTV , 5VO6 , 5W86 , 5WFJ , 6AAK , 6DA4 , 6DB3 , 6DB4 , 6DUD , 6GL9 , 6GLA , 6GLB , 6HZV , 6NY4 , 7APF , 7APG , 7C3N , 7Q6H , 7UYV , 8EXM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18379 FERM_F1 26 121 FERM F1 ubiquitin-like domain Domain
PF18377 FERM_F2 126 245 FERM F2 acyl-CoA binding protein-like domain Domain
PF17887 Jak1_Phl 273 357 Jak1 pleckstrin homology-like domain Domain
PF07714 PK_Tyr_Ser-Thr 521 777 Protein tyrosine and serine/threonine kinase Domain
PF07714 PK_Tyr_Ser-Thr 822 1095 Protein tyrosine and serine/threonine kinase Domain
Tissue specificity TISSUE SPECIFICITY: In NK cells and an NK-like cell line but not in resting T-cells or in other tissues. The S-form is more commonly seen in hematopoietic lines, whereas the B-form is detected in cells both of hematopoietic and epithelial origins. {ECO:00
Sequence
MAPPSEETPLIPQRSCSLLSTEAGALHVLLPARGPGPPQRLSFSFGDHLAEDLCVQAAKA
SGILPVYHSLFALATEDLSCWFPPSHIFSVEDASTQVLLYRIRFYFPNWFGLEKCHRFGL
R
KDLASAILDLPVLEHLFAQHRSDLVSGRLPVGLSLKEQGECLSLAVLDLARMAREQAQR
PGELLKTVSYKACLPPSLRDLIQGLSFVTRRRIRRTVRRALRRVAACQADRHSLMAKYIM
DLERL
DPAGAAETFHVGLPGALGGHDGLGLLRVAGDGGIAWTQGEQEVLQPFCDFPEIVD
ISIKQAPRVGPAGEHRLVTVTRTDNQILEAEFPGLPEALSFVALVDGYFRLTTDSQH
FFC
KEVAPPRLLEEVAEQCHGPITLDFAINKLKTGGSRPGSYVLRRSPQDFDSFLLTVCVQNP
LGPDYKGCLIRRSPTGTFLLVGLSRPHSSLRELLATCWDGGLHVDGVAVTLTSCCIPRPK
EKSNLIVVQRGHSPPTSSLVQPQSQYQLSQMTFHKIPADSLEWHENLGHGSFTKIYRGCR
HEVVDGEARKTEVLLKVMDAKHKNCMESFLEAASLMSQVSYRHLVLLHGVCMAGDSTMVQ
EFVHLGAIDMYLRKRGHLVPASWKLQVVKQLAYALNYLEDKGLPHGNVSARKVLLAREGA
DGSPPFIKLSDPGVSPAVLSLEMLTDRIPWVAPECLREAQTLSLEADKWGFGATVWEVFS
GVTMPISALDPAKKLQFYEDRQQLPAPKWTELALLIQQCMAYEPVQRPSFRAVIRDL
NSL
ISSDYELLSDPTPGALAPRDGLWNGAQLYACQDPTIFEERHLKYISQLGKGNFGSVELCR
YDPLGDNTGALVAVKQLQHSGPDQQRDFQREIQILKALHSDFIVKYRGVSYGPGRQSLRL
VMEYLPSGCLRDFLQRHRARLDASRLLLYSSQICKGMEYLGSRRCVHRDLAARNILVESE
AHVKIADFGLAKLLPLDKDYYVVREPGQSPIFWYAPESLSDNIFSRQSDVWSFGVVLYEL
FTYCDKSCSPSAEFLRMMGCERDVPALCRLLELLEEGQRLPAPPACPAEVHELMKLCWAP
SPQDRPSFSALGPQL
DMLWSGSRGCETHAFTAHPEGKHHSLSFS
Sequence length 1124
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Chemokine signaling pathway
PI3K-Akt signaling pathway
Necroptosis
Signaling pathways regulating pluripotency of stem cells
JAK-STAT signaling pathway
Th1 and Th2 cell differentiation
Th17 cell differentiation
Hepatitis B
Measles
Human T-cell leukemia virus 1 infection
Epstein-Barr virus infection
Pathways in cancer
Viral carcinogenesis
Non-small cell lung cancer
Primary immunodeficiency
  Interleukin-7 signaling
RAF/MAP kinase cascade
Interleukin-4 and Interleukin-13 signaling
Interleukin-20 family signaling
Interleukin-15 signaling
Interleukin-9 signaling
Interleukin-2 signaling
Interleukin-21 signaling
Interleukin receptor SHC signaling
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis, Familial rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733
View all (171 more)
11796754
Gastric cancer Gastric Adenocarcinoma rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802
View all (244 more)
Lateral sclerosis AMYOTROPHIC LATERAL SCLEROSIS 1, Amyotrophic Lateral Sclerosis, Sporadic rs386134181, rs386134176, rs386134174, rs386134184, rs386134178, rs1693780539, rs1574698048 11796754
Lymphoma Lymphoma, Lymphoma, Extranodal NK-T-Cell rs11540652, rs1592119138, rs1592123162, rs1599367044 23689514, 22705984
Unknown
Disease term Disease name Evidence References Source
Otitis media Acute otitis media ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 32509861
Agammaglobulinemia Associate 32691468
Arthritis Associate 16096332
Arthritis Rheumatoid Associate 16096332, 16760256, 17223651, 31181818, 36614150
Arthrogryposis Associate 36466884
Ataxia Telangiectasia Associate 16170336, 27602765
Axial Spondyloarthritis Associate 26671920
Breast Neoplasms Associate 18403594, 23238254, 27119652, 27993161, 31795964, 34572592
Bronchiolitis Associate 26541527
Calcinosis Associate 33173427