Human Gene TYK2 (ENST00000525621.6_8) from GENCODE V47lift37
Description: tyrosine kinase 2, transcript variant 2 (from RefSeq NM_003331.5)
Gencode Transcript: ENST00000525621.6_8
Gencode Gene: ENSG00000105397.16_16
Transcript (Including UTRs)
Position: hg19 chr19:10,461,209-10,491,248 Size: 30,040 Total Exon Count: 25 Strand: -
Coding Region
Position: hg19 chr19:10,461,510-10,489,082 Size: 27,573 Coding Exon Count: 23
Data last updated at UCSC: 2024-08-22 23:36:26
Sequence and Links to Tools and Databases
Comments and Description Text from UniProtKB
ID: TYK2_HUMAN
DESCRIPTION: RecName: Full=Non-receptor tyrosine-protein kinase TYK2; EC=2.7.10.2;
FUNCTION: Probably involved in intracellular signal transduction by being involved in the initiation of type I IFN signaling. Phosphorylates the interferon-alpha/beta receptor alpha chain.CATALYTIC ACTIVITY: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.SUBUNIT: Interacts with JAKMIP1.TISSUE SPECIFICITY: Observed in all cell lines analyzed. Expressed in a variety of lymphoid and non-lymphoid cell lines.DOMAIN: The FERM domain mediates interaction with JAKMIP1.DISEASE: Defects in TYK2 are the cause of protein-tyrosine kinase 2 deficiency (TYK2 deficiency) [MIM:611521] ; also known as autosomal recessive hyper-IgE syndrome (HIES) with atypical mycobacteriosis. TYK2 deficiency consists of a primary immunodeficiency characterized by recurrent skin abscesses, pneumonia, and highly elevated serum IgE.SIMILARITY: Belongs to the protein kinase superfamily. Tyr protein kinase family. JAK subfamily.SIMILARITY: Contains 1 FERM domain.SIMILARITY: Contains 1 protein kinase domain.SIMILARITY: Contains 1 SH2 domain.WEB RESOURCE: Name=TYK2base; Note=TYK2 mutation db; URL="http://bioinf.uta.fi/TYK2base/";WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/tyk2/";
Primer design for this transcript
MalaCards Disease Associations
MalaCards Gene Search: TYK2
Diseases sorted by gene-association score: immunodeficiency 35 * (1268), familial atypical mycobacteriosis, tyk2-related * (500), lymphomatoid papulosis * (247), primary cutaneous anaplastic large cell lymphoma * (247), mixed lacrimal gland cancer (14), rheumatoid factor-negative juvenile idiopathic arthritis * (12), oligoarticular juvenile idiopathic arthritis * (9), hyper-ige recurrent infection syndrome (9), polycythemia vera, somatic (8), hepatitis c (7), hyper ige syndrome (7), hyperimmunoglobulin syndrome (5), bone marrow cancer (2)* = Manually curated disease association
Comparative Toxicogenomics Database (CTD)
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
InterPro Domains: Graphical view of domain structure IPR019749 - Band_41_domain
IPR019748 - FERM_central
IPR000299 - FERM_domain
IPR011009 - Kinase-like_dom
IPR000719 - Prot_kinase_cat_dom
IPR017441 - Protein_kinase_ATP_BS
IPR001245 - Ser-Thr/Tyr_kinase_cat_dom
IPR000980 - SH2
IPR008266 - Tyr_kinase_AS
IPR020635 - Tyr_kinase_cat_dom
IPR016251 - Tyr_kinase_non-rcpt_Jak/Tyk2
IPR016045 - Tyr_kinase_non-rcpt_TYK2_N
Pfam Domains: PF00069 - Protein kinase domain
PF07714 - Protein tyrosine and serine/threonine kinase
PF17887 - Jak1 pleckstrin homology-like domain
PF18377 - FERM F2 acyl-CoA binding protein-like domain
PF18379 - FERM F1 ubiquitin-like domain
SCOP Domains: 47031 - Second domain of FERM
50729 - PH domain-like
56112 - Protein kinase-like (PK-like)
55550 - SH2 domain
Protein Data Bank (PDB) 3-D Structure
ModBase Predicted Comparative 3D Structure on P29597
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Descriptions from all associated GenBank mRNAs
X54637 - Human tyk2 mRNA for non-receptor protein tyrosine kinase.BC014243 - Homo sapiens tyrosine kinase 2, mRNA (cDNA clone MGC:20776 IMAGE:4591726), complete cds.AK308360 - Homo sapiens cDNA, FLJ98308.AK303627 - Homo sapiens cDNA FLJ58736 complete cds, highly similar to Non-receptor tyrosine-protein kinase TYK2 (EC 2.7.10.2).DQ892692 - Synthetic construct clone IMAGE:100005322; FLH188941.01X; RZPDo839H0973D tyrosine kinase 2 (TYK2) gene, encodes complete protein.DQ895955 - Synthetic construct Homo sapiens clone IMAGE:100010415; FLH188939.01L; RZPDo839H0963D tyrosine kinase 2 (TYK2) gene, encodes complete protein.AB590395 - Synthetic construct DNA, clone: pFN21AE1350, Homo sapiens TYK2 gene for tyrosine kinase 2, without stop codon, in Flexi system.AK222672 - Homo sapiens mRNA for tyrosine kinase 2 variant, clone: CBR01322.AK308379 - Homo sapiens cDNA, FLJ98327.JD517166 - Sequence 498190 from Patent EP1572962.JD053360 - Sequence 34384 from Patent EP1572962.JD380109 - Sequence 361133 from Patent EP1572962.JD258658 - Sequence 239682 from Patent EP1572962.JD118580 - Sequence 99604 from Patent EP1572962.JD066052 - Sequence 47076 from Patent EP1572962.JD470391 - Sequence 451415 from Patent EP1572962.JD216127 - Sequence 197151 from Patent EP1572962.JD024295 - Sequence 5319 from Patent EP1572962.JD033923 - Sequence 14947 from Patent EP1572962.JD059395 - Sequence 40419 from Patent EP1572962.JD433137 - Sequence 414161 from Patent EP1572962.JD449958 - Sequence 430982 from Patent EP1572962.JD127379 - Sequence 108403 from Patent EP1572962.JD073682 - Sequence 54706 from Patent EP1572962.JD125138 - Sequence 106162 from Patent EP1572962.
Biochemical and Signaling Pathways
BioCarta from NCI Cancer Genome Anatomy Project h_stat3Pathway - Stat3 Signaling Pathway
h_ifnaPathway - IFN alpha signaling pathway
h_no2il12Pathway - NO2-dependent IL 12 Pathway in NK cells
h_IL12Pathway - IL12 and Stat4 Dependent Signaling Pathway in Th1 Development
h_il22bppathway - IL22 Soluble Receptor Signaling Pathway
Reactome (by CSHL, EBI, and GO) Protein P29597 (Reactome details) participates in the following event(s):R-HSA-6785762 IL13RA1 binds TYK2
R-HSA-8950057 IL12RB1 binds TYK2
R-HSA-8987223 IL10RB binds TYK2
R-HSA-909724 Recruitment of IFNAR1
R-HSA-448661 IFNL1 binds IL10RB:TYK2 and IFNLR1:JAK1
R-HSA-449811 IL10 dimer:2xIL10RA1:JAK1 binds IL10RB:TYK2
R-HSA-8854645 IL22:IL22RA1:JAK1 binds IL10RB:TYK2
R-HSA-8986480 IL26:IL20RA:JAK1 binds IL10RB:TYK2
R-HSA-6786070 IL4:IL4R:JAK2 binds IL13RA1:TYK2
R-HSA-6786118 IL13 binds IL13RA:TYK2
R-HSA-447252 IL12RB1:TYK2 binds IL12RB2:JAK2
R-HSA-1067646 JAK1,JAK2,(TYK2) bind IL6ST
R-HSA-6784189 JAKs bind LIFR
R-HSA-6784204 JAKs bind OSMR
R-HSA-909729 Activation of JAK kinases
R-HSA-912680 Inhibition of JAK kinase activity by SOCS1/3
R-HSA-997314 Dephosphorylation of JAK1 by SHP1
R-HSA-997311 Dephosphorylation of TYK2 by PTP1B
R-HSA-6786114 IL13:IL13RA:TYK2 binds IL4R:JAK2
R-HSA-6785821 SOCS5,(SOCS1) bind IL4RA
R-HSA-447226 Interleukin-12 binds Interleukin-12 receptor
R-HSA-8950128 Interleukin-12 dissociates from Interleukin-12 receptor
R-HSA-8950364 IL23R in IL23:IL23 receptor complex is phosphorylated
R-HSA-448427 Interleukin-27 binds Interleukin-27 receptor
R-HSA-449976 IL11:IL11RA binds IL6ST:JAK1,JAK2,(TYK2)
R-HSA-1067651 IL6:IL6R-2 binds IL6ST:JAK1, JAK2, (TYK2)
R-HSA-1067688 IL6:IL6R binds IL6ST:JAK1,JAK2,(TYK2)
R-HSA-6783530 gp130:JAKs bind CNTFR
R-HSA-8950210 Interleukin-27 dissociates from Interleukin-27 receptor
R-HSA-5696482 CTF1 binds LIFR:JAKs
R-HSA-6783556 LIFR:JAKs bind gp130:JAKs:CNTFR
R-HSA-6783681 LIF binds LIFR
R-HSA-909719 Recruitment of STAT2 to p-IFNAR1
R-HSA-909722 Release of p-STAT2:p-STAT1 dimer
R-HSA-909730 Phosphorylation of INFAR1 by TYK2
R-HSA-909732 Phosphorylation of STAT2
R-HSA-909726 Phosphorylation of STAT1
R-HSA-997309 Dephosphorylation of STAT1 by SHP2
R-HSA-6784323 IL10 dimer:2xp-Y-IL10RA:p-Y-JAK1:2xIL10RB:p-Y-TYK2 binds STAT3
R-HSA-6784791 p-Y705-STAT3 dissociates from IL10 dimer:2xp-Y-IL10RA:p-Y-JAK1:2xIL10RB:p-Y-TYK2:p-Y705-STAT3
R-HSA-8950423 JAK2, TYK2 in IL12A:IL12RB1:TYK2:IL12B:IL12RB2:JAK2 are phosphorylated
R-HSA-8950448 STAT4 binds to IL12RB2 in Interleukin-12 receptor complex
R-HSA-8987040 IFNL1:IFNLR1:p‑JAK1:IL10RB:p‑TYK2 phosphorylates IFNLR1
R-HSA-8987132 IL22:p‑Y251,p‑Y301‑IL22RA1:p‑JAK1:PTPN11:IL10RB:p‑TYK2 binds PTPN11
R-HSA-6783552 OSM binds LIFR:JAKs,OSMR:JAKs
R-HSA-909718 Formation of p-STAT1 homodimer
R-HSA-6784006 STAT3 is phosphorylated by p-Y-JAK1,P-Y-TYK2
R-HSA-1067659 Assembly of hexameric IL-6 receptor
R-HSA-6783524 OSM,LIF,CTF1 receptor complex binds gp130
R-HSA-6788571 STAT1,STAT3,STAT6 bind IL13:IL13R type II
R-HSA-1112565 Tyrosine phosphorylated IL6ST binds STAT1,STAT3
R-HSA-1112708 PTPN11 binds p-Y759-IL6ST
R-HSA-1112755 SOCS3 binds IL6ST
R-HSA-1112604 Phosphorylated STATs are released
R-HSA-6788582 STAT1,STAT3,STAT6 phosphorylation
R-HSA-1112602 Tyrosine phosphorylation of STAT1, STAT3 by IL6 receptor
R-HSA-1112703 PTPN11 is phosphorylated
R-HSA-1112690 PTPN11 binds CBL
R-HSA-6785807 Interleukin-4 and 13 signaling
R-HSA-9020591 Interleukin-12 signaling
R-HSA-8854691 Interleukin-20 family signaling
R-HSA-909733 Interferon alpha/beta signaling
R-HSA-449836 Other interleukin signaling
R-HSA-6783783 Interleukin-10 signaling
R-HSA-9020933 Interleukin-23 signaling
R-HSA-1059683 Interleukin-6 signaling
R-HSA-9020956 Interleukin-27 signaling
R-HSA-6788467 IL-6-type cytokine receptor ligand interactions
R-HSA-449147 Signaling by Interleukins
R-HSA-447115 Interleukin-12 family signaling
R-HSA-912694 Regulation of IFNA signaling
R-HSA-913531 Interferon Signaling
R-HSA-8984722 Interleukin-35 Signalling
R-HSA-6783589 Interleukin-6 family signaling
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-168256 Immune System
Other Names for This Gene
Alternate Gene Symbols: ENST00000525621.1, ENST00000525621.2, ENST00000525621.3, ENST00000525621.4, ENST00000525621.5, NM_003331, P29597, Q6QB10, Q96CH0, TYK2_HUMAN, uc324avg.1, uc324avg.2UCSC ID: ENST00000525621.6_8RefSeq Accession: NM_003331.5
Protein: P29597
(aka TYK2_HUMAN)
Gene Model Information
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Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.