TRAF3-Interacting Protein 2

Alternative Names

  • TRAF3IP2
  • Chromosome 6 Open Reading Frame 5
  • C6ORF5
  • Nuclear Factor Kappa-B Activator 1
  • ACT1
  • Connection to I-Kappa-B Kinase and Stress-Activated Protein Kinase
  • CIKS
  • Chromosome 6 Open Reading Frame 4
  • C6ORF4
  • Chromosome 6 Open Reading Frame 6
  • C6ORF6

Associated Diseases

Discoid Lupus Erythematosus
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OMIM Number

607043

NCBI Gene ID

10758

Uniprot ID

O43734

Length

50,498 bases

No. of Exons

11

No. of isoforms

5

Protein Name

E3 ubiquitin ligase TRAF3IP2

Molecular Mass

64666 Da

Amino Acid Count

574

Genomic Location

chr6:111,555,380-111,605,877

Gene Map Locus
6q21

Description

This gene encodes a protein involved in regulating responses to cytokines by members of the Rel/NF-kappaB transcription factor family. These factors play a central role in innate immunity in response to pathogens, inflammatory signals and stress. This gene product interacts with TRAF proteins (tumor necrosis factor receptor-associated factors) and either I-kappaB kinase or MAP kinase to activate either NF-kappaB or Jun kinase. Several alternative transcripts encoding different isoforms have been identified. Another transcript, which does not encode a protein and is transcribed in the opposite orientation, has been identified. Overexpression of this transcript has been shown to reduce expression of at least one of the protein encoding transcripts, suggesting it has a regulatory role in the expression of this gene. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_147200.3:c.1313C>ALebanonchr6:111572899PathogenicPathogenicDiscoid Lupus ErythematosusNG_032030.1:g.38376C>A; NM_147200.3:c.1313C>A; NP_671733.2:p.Thr438Asn1583223171812084

Other Reports

Saudi Arabia

Monies et al. (2017) discussed the findings of 1000 diagnostic panels and exomes carried out at a next generation sequencing lab in Saudi Arabia. One 6-year-old male patient suffering from severe eczema was subjected to a multigene panel for immunity disorders and was found to carry a homozygous mutation (c.200G>C:p.W67S) in exon 4 of the TRAF3IP2 gene. As a mutation in the gene had previously been tentatively linked to eczema, this finding helped confirm its association with the disorder.   

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