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TYK2 tyrosine kinase 2 [ Homo sapiens (human) ]

Gene ID: 7297, updated on 3-May-2020

Summary

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 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 hyperimmunoglobulin E syndrome (HIES) - a primary immunodeficiency characterized by elevated serum immunoglobulin E. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in spleen (RPKM 21.6), bone marrow (RPKM 20.9) and 25 other tissues See more
Orthologs

Genomic context

See TYK2 in Genome Data Viewer
Location:
19p13.2
Exon count:
27
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (10350528..10380572, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (10461204..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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Tyrosine kinase 2 deficiency
MedGen: C1969086 OMIM: 611521 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.
NHGRI GWA Catalog
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
NHGRI GWA Catalog
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
NHGRI GWA Catalog
Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
NHGRI GWA Catalog
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
The imprinted DLK1-MEG3 gene region on chromosome 14q32.2 alters susceptibility to type 1 diabetes.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

Preferred Names
non-receptor tyrosine-protein kinase TYK2
NP_003322.3
XP_011526547.1
XP_011526548.1
XP_011526549.1
XP_011526551.1
XP_011526553.1

NCBI Reference Sequences (RefSeq)

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_003331.5NP_003322.3  non-receptor tyrosine-protein kinase TYK2

    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:8971169
    TyrKc; Tyrosine kinase, catalytic domain
    smart00295
    Location:28273
    B41; Band 4.1 homologues
    cd05076
    Location:589867
    PTK_Tyk2_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Tyrosine kinase 2
    cd05080
    Location:8921174
    PTKc_Tyk2_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Tyrosine kinase 2
    pfam07714
    Location:589866
    Pkinase_Tyr; Protein tyrosine kinase
    cl15255
    Location:437534
    SH2; Src homology 2 (SH2) domain
    cl17171
    Location:270437
    PH-like; Pleckstrin homology-like domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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_011528245.1XP_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:8971169
    TyrKc; Tyrosine kinase, catalytic domain
    smart00295
    Location:28273
    B41; Band 4.1 homologues
    cd05076
    Location:589867
    PTK_Tyk2_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Tyrosine kinase 2
    cd05080
    Location:8921174
    PTKc_Tyk2_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Tyrosine kinase 2
    pfam07714
    Location:589866
    Pkinase_Tyr; Protein tyrosine kinase
    cl15255
    Location:437534
    SH2; Src homology 2 (SH2) domain
    cl17171
    Location:270437
    PH-like; Pleckstrin homology-like domain
  2. XM_011528246.3XP_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:7981070
    TyrKc; Tyrosine kinase, catalytic domain
    smart00295
    Location:2174
    B41; Band 4.1 homologues
    cd05076
    Location:490768
    PTK_Tyk2_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Tyrosine kinase 2
    cd05080
    Location:7931075
    PTKc_Tyk2_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Tyrosine kinase 2
    pfam07714
    Location:490767
    Pkinase_Tyr; Protein tyrosine kinase
    cl15255
    Location:338435
    SH2; Src homology 2 (SH2) domain
    cl17171
    Location:171338
    PH-like; Pleckstrin homology-like domain
  3. XM_011528247.1XP_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:7981070
    TyrKc; Tyrosine kinase, catalytic domain
    smart00295
    Location:2174
    B41; Band 4.1 homologues
    cd05076
    Location:490768
    PTK_Tyk2_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Tyrosine kinase 2
    cd05080
    Location:7931075
    PTKc_Tyk2_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Tyrosine kinase 2
    pfam07714
    Location:490767
    Pkinase_Tyr; Protein tyrosine kinase
    cl15255
    Location:338435
    SH2; Src homology 2 (SH2) domain
    cl17171
    Location:171338
    PH-like; Pleckstrin homology-like domain
  4. XM_011528251.1XP_011526553.1  non-receptor tyrosine-protein kinase TYK2 isoform X4

    Conserved Domains (4) summary
    smart00219
    Location:316588
    TyrKc; Tyrosine kinase, catalytic domain
    cd05080
    Location:311593
    PTKc_Tyk2_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Tyrosine kinase 2
    pfam07714
    Location:49285
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:50286
    PKc_like; Protein Kinases, catalytic domain
  5. XM_011528249.2XP_011526551.1  non-receptor tyrosine-protein kinase TYK2 isoform X3

    Conserved Domains (5) summary
    smart00219
    Location:455727
    TyrKc; Tyrosine kinase, catalytic domain
    cd05076
    Location:147425
    PTK_Tyk2_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Tyrosine kinase 2
    cd05080
    Location:450732
    PTKc_Tyk2_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Tyrosine kinase 2
    pfam07714
    Location:147424
    Pkinase_Tyr; Protein tyrosine kinase
    cl15255
    Location:1592
    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

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