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TYK2 tyrosine kinase 2 [ Homo sapiens (human) ]

Gene ID: 7297, updated on 29-Mar-2021

Summary

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Official Symbol
TYK2provided by HGNC
Official Full Name
tyrosine kinase 2provided by HGNC
Primary source
HGNC:HGNC:12440
See related
Ensembl:ENSG00000105397 MIM:176941
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
JTK1; IMD35
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 phosphorylating receptor subunits. It is also a component of both the type I and type III interferon signaling pathways. As such, it may play a role in anti-viral immunity. A mutation in this gene has been associated with Immunodeficiency 35. [provided by RefSeq, Sep 2020]
Annotation information
Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
Expression
Ubiquitous expression in spleen (RPKM 21.6), bone marrow (RPKM 20.9) and 25 other tissues See more
Orthologs
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Genomic context

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See TYK2 in Genome Data Viewer
Location:
19p13.2
Exon count:
29
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (10350528..10380572, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (10461209..10491248, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ribonucleoprotein, PTB binding 1 Neighboring gene intercellular adhesion molecule 3 Neighboring gene cell division cycle 37, HSP90 cochaperone Neighboring gene microRNA 1181 Neighboring gene phosphodiesterase 4A

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Human ancient DNA analyses reveal the high burden of tuberculosis in Europeans over the last 2,000 years. Kerner G, et al. Am J Hum Genet, 2021 Mar 4. PMID 33667394, Free PMC Article
  2. The role of a functional variant of TYK2 in vasculitides and infections. Ortiz-Fernández L, et al. Clin Exp Rheumatol, 2020 Sep-Oct. PMID 32167874
  3. Two common disease-associated TYK2 variants impact exon splicing and TYK2 dosage. Li Z, et al. PLoS One, 2020. PMID 31961910, Free PMC Article
  4. A New Patient with Inherited TYK2 Deficiency. Sarrafzadeh SA, et al. J Clin Immunol, 2020 Jan. PMID 31713088, Free PMC Article
  5. Catalytically Impaired TYK2 Variants are Protective Against Childhood- and Adult-Onset Systemic Lupus Erythematosus in Mexicans. Contreras-Cubas C, et al. Sci Rep, 2019 Aug 21. PMID 31434951, Free PMC Article

See all (202) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Human ancient DNA analyses reveal the high burden of tuberculosis in Europeans over the last 2,000 years.
    Title: Human ancient DNA analyses reveal the high burden of tuberculosis in Europeans over the last 2,000 years.
  2. A New Patient with Inherited TYK2 Deficiency.
    Title: A New Patient with Inherited TYK2 Deficiency.
  3. Whole-Exome Sequencing of Patients With Posterior Segment Uveitis.
    Title: Whole-Exome Sequencing of Patients With Posterior Segment Uveitis.
  4. The role of a functional variant of TYK2 in vasculitides and infections.
    Title: The role of a functional variant of TYK2 in vasculitides and infections.
  5. Catalytically Impaired TYK2 Variants are Protective Against Childhood- and Adult-Onset Systemic Lupus Erythematosus in Mexicans.
    Title: Catalytically Impaired TYK2 Variants are Protective Against Childhood- and Adult-Onset Systemic Lupus Erythematosus in Mexicans.
  6. these findings suggest that these TYK2 variants are not neutral but instead have a potential impact in inflammatory and autoimmune diseases
    Title: Two common disease-associated TYK2 variants impact exon splicing and TYK2 dosage.
  7. Homozygosity for TYK2 P1104A may account for approximately 1% of TB cases in Europeans.
    Title: Homozygosity for <i>TYK2</i> P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry.
  8. TYK2(P) diminishes IL-12, IL-23, and IFN I signaling and that its protective effect is most likely manifest in the setting of autoimmune triggers that concurrently dysregulate at least two of these important signaling cascades.
    Title: The <i>TYK2</i>-P1104A Autoimmune Protective Variant Limits Coordinate Signals Required to Generate Specialized T Cell Subsets.
  9. The study reveals a new clinical entity of a primary immunodeficiency with T-cell lymphopenia that is associated with compound heterozygous TYK2 mutations in two patients.
    Title: Compound heterozygous TYK2 mutations underlie primary immunodeficiency with T-cell lymphopenia.
  10. homozygosity for the catalytically inactive P1104A missense variant of TYK2 selectively disrupts the induction of IFN-gamma by IL-23 and is a common monogenic etiology of tuberculosis
    Title: Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common <i>TYK2</i> missense variant.
Submit: New GeneRIF Correction See all GeneRIFs (90)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.
GeneReviews: Not available
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
GeneReviews: Not available
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
GeneReviews: Not available
Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
GeneReviews: Not available
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
GeneReviews: Not available
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available
The imprinted DLK1-MEG3 gene region on chromosome 14q32.2 alters susceptibility to type 1 diabetes.
GeneReviews: Not available
Tyrosine kinase 2 deficiency
MedGen: C1969086 OMIM: 611521 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
  
growth hormone receptor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
non-membrane spanning protein tyrosine kinase activity TAS
Traceable Author Statement
more info
  
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
protein tyrosine kinase activity EXP
Inferred from Experiment
more info
 PubMed 
protein tyrosine kinase activity TAS
Traceable Author Statement
more info
  
type 1 angiotensin receptor binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
  
interleukin-12-mediated signaling pathway TAS
Traceable Author Statement
more info
  
interleukin-23-mediated signaling pathway TAS
Traceable Author Statement
more info
  
interleukin-27-mediated signaling pathway TAS
Traceable Author Statement
more info
  
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
  
peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
  
protein phosphorylation TAS
Traceable Author Statement
more info
 PubMed 
type I interferon signaling pathway TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
cytosol TAS
Traceable Author Statement
more info
  
extracellular exosome HDA PubMed 
membrane IEA
Inferred from Electronic Annotation
more info
  
nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
non-receptor tyrosine-protein kinase TYK2
NP_001372126.1
NP_001372127.1
NP_001372128.1
NP_001372129.1
NP_001372130.1
NP_001372131.1
NP_001372132.1
NP_001372133.1
NP_001372134.1
NP_001372135.1
NP_001372136.1
NP_003322.3
XP_011526547.1
XP_011526548.1
XP_011526549.1
XP_011526551.1
XP_011526553.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007872.1 RefSeqGene

    Range
    5001..35045
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_121

mRNA and Protein(s)

  1. NM_001385197.1 → NP_001372126.1  non-receptor tyrosine-protein kinase TYK2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC011557

  2. NM_001385198.1 → NP_001372127.1  non-receptor tyrosine-protein kinase TYK2 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC011557

  3. NM_001385199.1 → NP_001372128.1  non-receptor tyrosine-protein kinase TYK2 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC011557

  4. NM_001385200.1 → NP_001372129.1  non-receptor tyrosine-protein kinase TYK2 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC011557

  5. NM_001385201.1 → NP_001372130.1  non-receptor tyrosine-protein kinase TYK2 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC011557

  6. NM_001385202.1 → NP_001372131.1  non-receptor tyrosine-protein kinase TYK2 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC011557

  7. NM_001385203.1 → NP_001372132.1  non-receptor tyrosine-protein kinase TYK2 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC011557

  8. NM_001385204.1 → NP_001372133.1  non-receptor tyrosine-protein kinase TYK2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC011557

  9. NM_001385205.1 → NP_001372134.1  non-receptor tyrosine-protein kinase TYK2 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC011557

  10. NM_001385206.1 → NP_001372135.1  non-receptor tyrosine-protein kinase TYK2 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC011557

  11. NM_001385207.1 → NP_001372136.1  non-receptor tyrosine-protein kinase TYK2 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC011557

  12. NM_003331.5 → NP_003322.3  non-receptor tyrosine-protein kinase TYK2 isoform 2

    See identical proteins and their annotated locations for NP_003322.3

    Status: REVIEWED

    Source sequence(s)
    AK308360, BC014243, DA864169
    Consensus CDS
    CCDS12236.1
    UniProtKB/Swiss-Prot
    P29597
    UniProtKB/TrEMBL
    A0A024R7E4
    Related
    ENSP00000431885.1, ENST00000525621.6
    Conserved Domains (7) summary
    smart00219
    Location:897 → 1169
    TyrKc; Tyrosine kinase, catalytic domain
    smart00295
    Location:28 → 273
    B41; Band 4.1 homologues
    cd05076
    Location:589 → 867
    PTK_Tyk2_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Tyrosine kinase 2
    cd05080
    Location:892 → 1174
    PTKc_Tyk2_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Tyrosine kinase 2
    pfam07714
    Location:589 → 866
    Pkinase_Tyr; Protein tyrosine kinase
    cl15255
    Location:437 → 534
    SH2; Src homology 2 (SH2) domain
    cl17171
    Location:270 → 437
    PH-like; Pleckstrin homology-like domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    10350528..10380572 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528245.1 → XP_011526547.1  non-receptor tyrosine-protein kinase TYK2 isoform X1

    See identical proteins and their annotated locations for XP_011526547.1

    UniProtKB/Swiss-Prot
    P29597
    UniProtKB/TrEMBL
    A0A024R7E4
    Related
    ENSP00000264818.6, ENST00000264818.10
    Conserved Domains (7) summary
    smart00219
    Location:897 → 1169
    TyrKc; Tyrosine kinase, catalytic domain
    smart00295
    Location:28 → 273
    B41; Band 4.1 homologues
    cd05076
    Location:589 → 867
    PTK_Tyk2_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Tyrosine kinase 2
    cd05080
    Location:892 → 1174
    PTKc_Tyk2_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Tyrosine kinase 2
    pfam07714
    Location:589 → 866
    Pkinase_Tyr; Protein tyrosine kinase
    cl15255
    Location:437 → 534
    SH2; Src homology 2 (SH2) domain
    cl17171
    Location:270 → 437
    PH-like; Pleckstrin homology-like domain

  2. XM_011528246.3 → XP_011526548.1  non-receptor tyrosine-protein kinase TYK2 isoform X2

    See identical proteins and their annotated locations for XP_011526548.1

    Conserved Domains (7) summary
    smart00219
    Location:798 → 1070
    TyrKc; Tyrosine kinase, catalytic domain
    smart00295
    Location:2 → 174
    B41; Band 4.1 homologues
    cd05076
    Location:490 → 768
    PTK_Tyk2_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Tyrosine kinase 2
    cd05080
    Location:793 → 1075
    PTKc_Tyk2_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Tyrosine kinase 2
    pfam07714
    Location:490 → 767
    Pkinase_Tyr; Protein tyrosine kinase
    cl15255
    Location:338 → 435
    SH2; Src homology 2 (SH2) domain
    cl17171
    Location:171 → 338
    PH-like; Pleckstrin homology-like domain

  3. XM_011528247.1 → XP_011526549.1  non-receptor tyrosine-protein kinase TYK2 isoform X2

    See identical proteins and their annotated locations for XP_011526549.1

    Related
    ENSP00000433203.1, ENST00000524462.5
    Conserved Domains (7) summary
    smart00219
    Location:798 → 1070
    TyrKc; Tyrosine kinase, catalytic domain
    smart00295
    Location:2 → 174
    B41; Band 4.1 homologues
    cd05076
    Location:490 → 768
    PTK_Tyk2_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Tyrosine kinase 2
    cd05080
    Location:793 → 1075
    PTKc_Tyk2_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Tyrosine kinase 2
    pfam07714
    Location:490 → 767
    Pkinase_Tyr; Protein tyrosine kinase
    cl15255
    Location:338 → 435
    SH2; Src homology 2 (SH2) domain
    cl17171
    Location:171 → 338
    PH-like; Pleckstrin homology-like domain

  4. XM_011528251.1 → XP_011526553.1  non-receptor tyrosine-protein kinase TYK2 isoform X4

    Conserved Domains (4) summary
    smart00219
    Location:316 → 588
    TyrKc; Tyrosine kinase, catalytic domain
    cd05080
    Location:311 → 593
    PTKc_Tyk2_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Tyrosine kinase 2
    pfam07714
    Location:49 → 285
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:50 → 286
    PKc_like; Protein Kinases, catalytic domain

  5. XM_011528249.2 → XP_011526551.1  non-receptor tyrosine-protein kinase TYK2 isoform X3

    Conserved Domains (5) summary
    smart00219
    Location:455 → 727
    TyrKc; Tyrosine kinase, catalytic domain
    cd05076
    Location:147 → 425
    PTK_Tyk2_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Tyrosine kinase 2
    cd05080
    Location:450 → 732
    PTKc_Tyk2_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Tyrosine kinase 2
    pfam07714
    Location:147 → 424
    Pkinase_Tyr; Protein tyrosine kinase
    cl15255
    Location:15 → 92
    SH2; Src homology 2 (SH2) domain

RNA

  1. XR_002958353.1 RNA Sequence

  2. XR_001753750.1 RNA Sequence

  3. XR_001753751.1 RNA Sequence

  4. XR_001753752.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P29597.3 GenPept UniProtKB/Swiss-Prot:P29597
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