Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

TRAF3 Interacting Protein 2

The TRAF3IP2 gene encodes a protein that is involved in cytokin signal transduction of NF-kappaB. Mutations cause autosomal recessive familial candidiasis 8 and a susceptibility to psoriasis 13.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Familial candidiasis 8
TRAF3IP2
Psoriasis susceptibility 13
TRAF3IP2

References:

1.

Morelli C et al. (2000) Cloning and characterization of two overlapping genes in a subregion at 6q21 involved in replicative senescence and schizophrenia.

external link
2.

Li X et al. (2000) Act1, an NF-kappa B-activating protein.

external link
3.

Leonardi A et al. (2000) CIKS, a connection to Ikappa B kinase and stress-activated protein kinase.

external link
4.

Pacifico F et al. (2003) Promoter identification of CIKS, a novel NF-kappaB activating gene, and regulation of its expression.

external link
5.

Qian Y et al. (2007) The adaptor Act1 is required for interleukin 17-dependent signaling associated with autoimmune and inflammatory disease.

external link
6.

Matsushima Y et al. (2010) An atopic dermatitis-like skin disease with hyper-IgE-emia develops in mice carrying a spontaneous recessive point mutation in the Traf3ip2 (Act1/CIKS) gene.

external link
7.

Hüffmeier U et al. (2010) Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.

external link
8.

Ellinghaus E et al. (2010) Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2.

external link
9.

Sønder SU et al. (2012) CIKS/Act1-mediated signaling by IL-17 cytokines in context: implications for how a CIKS gene variant may predispose to psoriasis.

external link
10.

Zhang B et al. (2013) Crystal structure of IL-17 receptor B SEFIR domain.

external link
11.

Boisson B et al. (2013) An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis.

external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits