Gene Gene information from NCBI Gene database.
Entrez ID 7297
Gene name Tyrosine kinase 2
Gene symbol TYK2
Synonyms (NCBI Gene)
IMD35JTK1
Chromosome 19
Chromosome location 19p13.2
Summary This gene encodes a member of the tyrosine kinase and, more specifically, the Janus kinases (JAKs) protein families. This protein associates with the cytoplasmic domain of type I and type II cytokine receptors and promulgate cytokine signals by phosphoryl
SNPs SNP information provided by dbSNP.
16
SNP ID Visualize variation Clinical significance Consequence
rs2304258 C>T Uncertain-significance, risk-factor Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs2304259 T>G Uncertain-significance, risk-factor Upstream transcript variant
rs17000728 C>T Uncertain-significance, risk-factor Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs17000730 T>C Uncertain-significance, risk-factor Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs144960992 A>G Uncertain-significance, conflicting-interpretations-of-pathogenicity Missense variant, genic upstream transcript variant, non coding transcript variant, upstream transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
62
miRTarBase ID miRNA Experiments Reference
MIRT023017 hsa-miR-124-3p Microarray 18668037
MIRT1465602 hsa-miR-124 CLIP-seq
MIRT1465603 hsa-miR-1251 CLIP-seq
MIRT1465604 hsa-miR-1262 CLIP-seq
MIRT1465605 hsa-miR-1270 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
STAT3 Repression 18550668
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
70
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004713 Function Protein tyrosine kinase activity EXP 1386289, 8232552
GO:0004713 Function Protein tyrosine kinase activity IC 7543512
GO:0004713 Function Protein tyrosine kinase activity IDA 10542297
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
176941 12440 ENSG00000105397
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P29597
Protein name Non-receptor tyrosine-protein kinase TYK2 (EC 2.7.10.2)
Protein function Tyrosine kinase of the non-receptor type involved in numerous cytokines and interferons signaling, which regulates cell growth, development, cell migration, innate and adaptive immunity (PubMed:10542297, PubMed:10995743, PubMed:7657660, PubMed:7
PDB 3LXN , 3LXP , 3NYX , 3NZ0 , 3ZON , 4GFO , 4GIH , 4GII , 4GJ2 , 4GJ3 , 4GVJ , 4OLI , 4PO6 , 4PY1 , 4WOV , 5C01 , 5C03 , 5F1Z , 5F20 , 5TKD , 5WAL , 6AAM , 6DBK , 6DBM , 6NSL , 6NZE , 6NZF , 6NZH , 6NZP , 6NZQ , 6NZR , 6OVA , 6VNS , 6VNV , 6VNX , 6VNY , 6X8F , 6X8G , 7AX4 , 7K7O , 7K7Q , 7UYR , 7UYS , 7UYT , 7UYU , 8EXN , 8EYC , 8S98 , 8S99 , 8S9A , 8TB5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18379 FERM_F1 28 125 FERM F1 ubiquitin-like domain Domain
PF18377 FERM_F2 141 266 FERM F2 acyl-CoA binding protein-like domain Domain
PF17887 Jak1_Phl 285 432 Jak1 pleckstrin homology-like domain Domain
PF07714 PK_Tyr_Ser-Thr 589 866 Protein tyrosine and serine/threonine kinase Domain
PF07714 PK_Tyr_Ser-Thr 897 1169 Protein tyrosine and serine/threonine kinase Domain
Tissue specificity TISSUE SPECIFICITY: Observed in all cell lines analyzed. Expressed in a variety of lymphoid and non-lymphoid cell lines. {ECO:0000269|PubMed:2156206}.
Sequence
MPLRHWGMARGSKPVGDGAQPMAAMGGLKVLLHWAGPGGGEPWVTFSESSLTAEEVCIHI
AHKVGITPPCFNLFALFDAQAQVWLPPNHILEIPRDASLMLYFRIRFYFRNWHGMNPREP
AVYRC
GPPGTEASSDQTAQGMQLLDPASFEYLFEQGKHEFVNDVASLWELSTEEEIHHFK
NESLGMAFLHLCHLALRHGIPLEEVAKKTSFKDCIPRSFRRHIRQHSALTRLRLRNVFRR
FLRDFQPGRLSQQMVMVKYLATLERL
APRFGTERVPVCHLRLLAQAEGEPCYIRDSGVAP
TDPGPESAAGPPTHEVLVTGTGGIQWWPVEEEVNKEEGSSGSSGRNPQASLFGKKAKAHK
AVGQPADRPREPLWAYFCDFRDITHVVLKEHCVSIHRQDNKCLELSLPSRAAALSFVSLV
DGYFRLTADSSH
YLCHEVAPPRLVMSIRDGIHGPLLEPFVQAKLRPEDGLYLIHWSTSHP
YRLILTVAQRSQAPDGMQSLRLRKFPIEQQDGAFVLEGWGRSFPSVRELGAALQGCLLRA
GDDCFSLRRCCLPQPGETSNLIIMRGARASPRTLNLSQLSFHRVDQKEITQLSHLGQGTR
TNVYEGRLRVEGSGDPEEGKMDDEDPLVPGRDRGQELRVVLKVLDPSHHDIALAFYETAS
LMSQVSHTHLAFVHGVCVRGPENIMVTEYVEHGPLDVWLRRERGHVPMAWKMVVAQQLAS
ALSYLENKNLVHGNVCGRNILLARLGLAEGTSPFIKLSDPGVGLGALSREERVERIPWLA
PECLPGGANSLSTAMDKWGFGATLLEICFDGEAPLQSRSPSEKEHFYQRQHRLPEPSCPQ
LATLTSQCLTYEPTQRPSFRTILRDL
TRLQPHNLADVLTVNPDSPASDPTVFHKRYLKKI
RDLGEGHFGKVSLYCYDPTNDGTGEMVAVKALKADCGPQHRSGWKQEIDILRTLYHEHII
KYKGCCEDQGEKSLQLVMEYVPLGSLRDYLPRHSIGLAQLLLFAQQICEGMAYLHAQHYI
HRDLAARNVLLDNDRLVKIGDFGLAKAVPEGHEYYRVREDGDSPVFWYAPECLKEYKFYY
ASDVWSFGVTLYELLTHCDSSQSPPTKFLELIGIAQGQMTVLRLTELLERGERLPRPDKC
PCEVYHLMKNCWETEASFRPTFENLIPIL
KTVHEKYQGQAPSVFSVC
Sequence length 1187
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Necroptosis
Osteoclast differentiation
Toll-like receptor signaling pathway
NOD-like receptor signaling pathway
JAK-STAT signaling pathway
Th1 and Th2 cell differentiation
Th17 cell differentiation
Toxoplasmosis
Hepatitis C
Hepatitis B
Measles
Influenza A
Human papillomavirus infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Coronavirus disease - COVID-19
  Interleukin-6 signaling
MAPK3 (ERK1) activation
MAPK1 (ERK2) activation
Other interleukin signaling
Interleukin-10 signaling
Interleukin-4 and Interleukin-13 signaling
IL-6-type cytokine receptor ligand interactions
Interleukin-20 family signaling
Interleukin-35 Signalling
Interleukin-12 signaling
Interleukin-23 signaling
Interleukin-27 signaling
Interferon alpha/beta signaling
Regulation of IFNA signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
863
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Immunodeficiency 35 Likely pathogenic; Pathogenic rs1568333687, rs2145175361, rs2145184643, rs777488795, rs869320745, rs2512496801, rs2512454201, rs759111483, rs781536408, rs2512551491, rs2512496407, rs879253731, rs879253732, rs201025290, rs770927552
View all (12 more)
RCV001379286
RCV001381281
RCV001926999
RCV002029631
RCV000144052
RCV002280850
RCV002280851
RCV002280852
RCV002280853
RCV002852608
RCV002974996
RCV000210466
RCV000210451
RCV000210459
RCV000014228
RCV003515397
RCV003515486
RCV003516472
RCV003515798
RCV003515874
RCV003627438
RCV003838436
RCV003832980
RCV003988677
RCV003990549
RCV002285018
RCV000707428
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs12720307, rs375746920 RCV005905440
RCV005903073
Cervical cancer Benign rs10418513 RCV005905444
Cholangiocarcinoma Likely benign; Benign rs34923070, rs12720253 RCV005919047
RCV005918128
Gastric cancer Benign rs12720253 RCV005918126
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acne Vulgaris Associate 29091937
Acute erythroleukemia Associate 10340405
Adenoma Pleomorphic Associate 27286739
Alopecia Areata Associate 34863853
Alzheimer Disease Associate 30478411
Arthritis Juvenile Associate 28990043
Arthritis Psoriatic Associate 22298274, 39684939
Arthritis Rheumatoid Associate 25849893, 33583939, 35470158
Autoimmune Diseases Associate 16239216, 25849893, 31961910, 33542028, 33583939, 34225445, 35482673, 35711568
Breast Neoplasms Associate 17934210, 22116632, 25104439