Gene
TRAF3IP2
TRAF3 interacting protein 2
- HGNC 1343↗(opens in a new tab)
- Ensembl gene ENSG00000056972↗(opens in a new tab)
- NCBI Gene 10758↗(opens in a new tab)
Summary
- Cytogenetic location
- 6q21
- Coordinates
- Chromosome 6: 111,555,381–111,605,878 (GRCh38)
- Exons
- 9 exons across 50.5 kb
- Protein
- 565 amino acids
- Also known as
- DKFZP586G0522, ACT1, CIKS
- Previous symbols
- C6orf4, C6orf5, C6orf6, C6orf2
- MANE Select transcript
- ENST00000368761.11NM_147686.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Chronic Mucocutaneous Candidiasis
Persistent or recurrent Candida infections of the skin, nails and mucous membranes caused by changes in genes such as STAT1, IL17RA, IL17RC, IL17F and TRAF3IP2.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Knowing the cause guides long-term antifungal treatment and, for STAT1 gain-of-function, monitoring for autoimmunity and aneurysms and consideration of targeted JAK-inhibitor therapy.
Broader groupings
Other Inborn Errors of Immunity
- Inborn error of immunity
One of 114 genes linked to it
Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.
- 1 GenCC submitter rates it definitive or strong
How TRAF3IP2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 5.8 kb of the gene's 50.5 kb; 1,698 of those bases code for the protein.
How a genome test reads TRAF3IP2
19
positions in TRAF3IP2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 50.5 kb of TRAF3IP2, introns included, not only the 5.8 kb of exons.
Genes linked to the same conditions
- IL17RAinterleukin 17 receptor AShares 2 conditions
- IL17RCinterleukin 17 receptor CShares 2 conditions
- STAT1signal transducer and activator of transcription 1Shares 2 conditions
- ADARadenosine deaminase RNA specificShares 1 condition
- AICDAactivation induced cytidine deaminaseShares 1 condition
- AP3B1adaptor related protein complex 3 subunit beta 1Shares 1 condition
- ATP6AP1ATPase H+ transporting accessory protein 1Shares 1 condition
- BCL10BCL10 immune signaling adaptorShares 1 condition
- BCL11BBCL11 transcription factor BShares 1 condition
- BLNKB cell linkerShares 1 condition
- BLOC1S6biogenesis of lysosomal organelles complex 1 subunit 6Shares 1 condition
- BTKBruton tyrosine kinaseShares 1 condition
Traits linked to TRAF3IP2
The Human Phenotype Ontology lists these as features of the rare conditions TRAF3IP2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the integument
- Abnormal fingernails
- Abnormality of the nail
- Abnormality of the skin
- Abnormality of the toenail
- Broad nail
- Hyperkeratosis
- Open skin sore
- Papule
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). TRAF3IP2 gene: TRAF3 interacting protein 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/traf3ip2
Dante Labs. TRAF3IP2 gene: TRAF3 interacting protein 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/traf3ip2
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