Alt. symbols: C6orf4 | C6orf5 | C6orf6 | C6orf2 | DKFZP586G0522 | ACT1 | CIKS

Approved name: TRAF3 interacting protein 2
Alt. names: chromosome 6 open reading frame 5, chromosome 6 open reading frame 2

Location: 6q21: 111555381 - 111606906 (-)
Gene type: protein_coding, 21 transcripts.

Scores: LoFtool: 0.893000 | pLI: 0.00007110 | LOEUF: 0.979

HGNC: 1343

NCBI: 10758, RefSeq: NG_032030.2

Ensembl: ENSG00000056972.21

LRG_1337 | Status: public

OMIM: 607043

Expression | ProteinAtlas

TRAF3IP2 encodes encodes Act1, an adapter protein involved in IL-17 receptor and CD40 signaling pathways, as well as Rel/NF-kappaB-dependent cytokine responses, thus playing a role in both adaptive and innate immune responses to pathogens, inflammatory signals and stress. Act1 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. TRAF3IP2 encodes several alternative transcripts. Overexpression of a noncoding RNA transcript, which is transcribed in the opposite orientation, has been shown to reduce the expression of at least one of TRAF3IP2 protein-coding transcripts, suggesting a potential regulatory role.

Boisson et al. (2013) identified a homozygous missense SEFIR domain variant (p.T536I) in 2 siblings with autosomal recessive familial mucocutaneous candidiasis [MIM:615527], while homozygosity for another variant (p.T438N) was reported for a family of 4 affected individuals with classic discoid lupus and generalized folliculitis (PMID: 32350852). Consanguinity was present in both cases. Ciccacci et al. (2013) suggested that some TRAF3IP2 variants may be associated with increased risk of cutaneou s extraintestinal manifestations of IBD (PMID: 22445837). Other SNPs in the gene have been also associated with increased susceptibility to Psoriasis/psoriatic arthritis (PMID: 20953186, 20953188, 22581863) [MIM:614070]. [Load More]