Database TYK2base
Version 1.0
File tyk2pub.html
Date 19-Jun-2007
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics
Address Lund University, BMC D10, SE-22184 Lund, Sweden
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno Vihinen
URL http://structure.bmc.lu.se/idbase/TYK2base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF163.html
Gene TYK2
Disease TYK2 deficiency
OMIM 176941
Sequence IDRefSeq:D0118; IDRefSeq:C0118; UniProt:P29597
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
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ID #C70X90(1),#C70X90(1); standard; MUTATION; FERM,FERM
Accession T0001
Systematic name Allele 1 and 2: g.11027_11030delGCTT, c.209_212delGCTT,
Systematic name r.209_212delgcuu, p.Cys70fsX20
Original code 22-year old male
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon in the FERM domain
Date 22-Dec-2006 (Rel. 1, Created)
Date 22-Dec-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17088085
RefAuthors Minegishi, Y., Saito, M., Morio, T., Watanabe, K.,
RefAuthors Agematsu, K., Tsuchiya, S., Takada, H., Hara, T.,
RefAuthors Kawamura, N., Ariga, T., Kaneko, H., Kondo, N., Tsuge, I.,
RefAuthors Yachie, A., Sakiyama, Y., Iwata, T., Bessho, F., Ohishi,
RefAuthors T., Joh, K., Imai, K., Kogawa, K., Shinohara, M., Fujieda,
RefAuthors M., Wakiguchi, H., Pasic, S., Abinun, M., Ochs, H. D.,
RefAuthors Renner, E. D., Jansson, A., Belohradsky, B. H., Metin, A.,
RefAuthors Shimizu, N., Mizutani, S., Miyawaki, T., Nonoyama, S.,
RefAuthors Karasuyama, H.
RefTitle Human tyrosine kinase 2 deficiency reveals its requisite
RefTitle roles in multiple cytokine signals involved in innate and
RefTitle acquired immunity.
RefLoc Immunity:745-755 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0118: 11027..11030
Feature /change: -gctt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0118: 550..553
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29597; TYK2_HUMAN: 70..71
Feature /change: CF -> SISLPSSMLR PKSGCPQTTS X
Feature /domain: FERM
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0118: 11027..11030
Feature /change: -gctt
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0118: 550..553
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P29597; TYK2_HUMAN: 70..71
Feature /change: CF -> SISLPSSMLR PKSGCPQTTS X
Feature /domain: FERM
Symptoms Clinically diagnosed as HIES, complex clinical
Symptoms manifestations; susceptibility to various types of
Symptoms microorganisms (virus, intracellular and extracellular
Symptoms bacteria and fungi), atopic dermatitis-like skin
Symptoms inflammation starting from 1 month of age, and a high
Symptoms amount of serum IgE (2100 IU/ml), recurrent otitis media,
Symptoms sinusitis, pneumonias, skin abscesses, oral candidiasis,
Symptoms molluscum contagiosum, and herpex simplex infection in skin
Symptoms and mucosa, BCG infection at 22 months and nontyphi
Symptoms salmonella gastroenteritis at 15 years of age.
Sex XY
Ethnic origin Mongoloid; Japan
Parents Consanguineous
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