Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7297
Gene name Gene Name - the full gene name approved by the HGNC.
Tyrosine kinase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TYK2
Synonyms (NCBI Gene) Gene synonyms aliases
IMD35, JTK1
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 factor Regulation Reference
STAT3 Repression 18550668
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
176941 12440 ENSG00000105397
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Immunodeficiency Immunodeficiency 35 rs201025290, rs770927552, rs1555719963, rs775578531, rs869320745, rs879253731, rs879253732 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Biliary Cholangitis Primary biliary cholangitis N/A N/A GWAS
Biliary Cirrhosis Primary biliary cirrhosis N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Diabetes Type 1 diabetes N/A N/A GWAS
Associations from Text Mining Disease 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