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 ... See more...

Aliases for TRAF3IP2 Gene

Aliases for TRAF3IP2 Gene

  • TRAF3 Interacting Protein 2 2 3 5
  • ACT1 2 3 4
  • Nuclear Factor NF-Kappa-B Activator 1 3 4
  • E3 Ubiquitin-Protein Ligase CIKS 3 4
  • Connection To IKK And SAPK/JNK 3 4
  • E3 Ubiquitin Ligase TRAF3IP2 3 4
  • Adapter Protein CIKS 3 4
  • C6orf2 3 4
  • C6orf4 3 4
  • C6orf5 3 4
  • C6orf6 3 4
  • CIKS 2 3
  • Chromosome 6 Open Reading Frame 5 2
  • Chromosome 6 Open Reading Frame 2 2
  • NFkB-Activating Protein ACT1 3
  • Symbol Withdrawn, See C6orf4 3
  • TRAF3-Interacting Protein 2 4
  • DKFZP586G0522 2
  • EC 2.3.2.27 4
  • TRAF3IP2 5
  • PSORS13 3
  • CANDF8 3

External Ids for TRAF3IP2 Gene

Previous HGNC Symbols for TRAF3IP2 Gene

  • C6orf4
  • C6orf5
  • C6orf6
  • C6orf2

Previous GeneCards Identifiers for TRAF3IP2 Gene

  • GC06M111985
  • GC06M111986
  • GC06M111877
  • GC06M109452

Summaries for TRAF3IP2 Gene

Entrez Gene Summary for TRAF3IP2 Gene

  • 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. [provided by RefSeq, Aug 2009]

GeneCards Summary for TRAF3IP2 Gene

TRAF3IP2 (TRAF3 Interacting Protein 2) is a Protein Coding gene. Diseases associated with TRAF3IP2 include Candidiasis, Familial, 8 and Psoriasis 13. Among its related pathways are IL-17 Family Signaling Pathways and Cytokine production by Th17 cells in CF (Mouse model).

UniProtKB/Swiss-Prot Summary for TRAF3IP2 Gene

  • E3 ubiquitin ligase that catalyzes 'Lys-63'-linked polyubiquitination of target protein, enhancing protein-protein interaction and cell signaling (PubMed:19825828). Transfers ubiquitin from E2 ubiquitin-conjugating enzyme UBE2V1-UBE2N to substrate protein (PubMed:19825828). Essential adapter molecule in IL17A-mediated signaling (PubMed:19825828, PubMed:24120361). Upon IL17A stimulation, interacts with IL17RA and IL17RC receptor chains through SEFIR domains and catalyzes 'Lys-63'-linked polyubiquitination of TRAF6, leading to TRAF6-mediated activation of NF-kappa-B and MAPkinase pathways (PubMed:19825828).

Gene Wiki entry for TRAF3IP2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TRAF3IP2 Gene

Genomics for TRAF3IP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TRAF3IP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TRAF3IP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TRAF3IP2

Top Transcription factor binding sites by QIAGEN in the TRAF3IP2 gene promoter:
  • COMP1
  • CUTL1
  • FOXC1
  • NF-1
  • SEF-1 (1)
  • TBP

Genomic Locations for TRAF3IP2 Gene

Latest Assembly
chr6:111,555,381-111,606,906
(GRCh38/hg38)
Size:
51,526 bases
Orientation:
Minus strand

Previous Assembly
chr6:111,876,584-111,927,081
(GRCh37/hg19 by Entrez Gene)
Size:
50,498 bases
Orientation:
Minus strand

chr6:111,877,657-111,927,481
(GRCh37/hg19 by Ensembl)
Size:
49,825 bases
Orientation:
Minus strand

Genomic View for TRAF3IP2 Gene

Genes around TRAF3IP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRAF3IP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRAF3IP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRAF3IP2 Gene

Proteins for TRAF3IP2 Gene

  • Protein details for TRAF3IP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43734-CIKS_HUMAN
    Recommended name:
    E3 ubiquitin ligase TRAF3IP2
    Protein Accession:
    O43734
    Secondary Accessions:
    • B2RAY9
    • E1P555
    • Q5R3A3
    • Q7Z6Q1
    • Q7Z6Q2
    • Q7Z6Q3
    • Q9H5W2
    • Q9H6Y3
    • Q9NS14
    • Q9UG72

    Protein attributes for TRAF3IP2 Gene

    Size:
    574 amino acids
    Molecular mass:
    64666 Da
    Quaternary structure:
    • Interacts with IKBKG/NF-kappa B essential modulator, with CHUK/IKK-alpha and with IKBKB/IKK-beta (PubMed:12459498). Interacts with TRAF6; this interaction is direct (PubMed:12459498, PubMed:19825828). Interacts with IL17RA and IL17RC (PubMed:19825828, PubMed:24120361). Interacts with IL17RB (PubMed:24120361).
    SequenceCaution:
    • Sequence=BAB15507.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for TRAF3IP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRAF3IP2 Gene

Post-translational modifications for TRAF3IP2 Gene

  • Glycosylation at Asn263
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

No data available for DME Specific Peptides for TRAF3IP2 Gene

Domains & Families for TRAF3IP2 Gene

Gene Families for TRAF3IP2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for TRAF3IP2 Gene

InterPro:
Blocks:
  • SEFIR

Suggested Antigen Peptide Sequences for TRAF3IP2 Gene

GenScript: Design optimal peptide antigens:
  • TRAF3-interacting protein 2 (CIKS_HUMAN)
genes like me logo Genes that share domains with TRAF3IP2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TRAF3IP2 Gene

Function for TRAF3IP2 Gene

Molecular function for TRAF3IP2 Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin ligase that catalyzes 'Lys-63'-linked polyubiquitination of target protein, enhancing protein-protein interaction and cell signaling (PubMed:19825828). Transfers ubiquitin from E2 ubiquitin-conjugating enzyme UBE2V1-UBE2N to substrate protein (PubMed:19825828). Essential adapter molecule in IL17A-mediated signaling (PubMed:19825828, PubMed:24120361). Upon IL17A stimulation, interacts with IL17RA and IL17RC receptor chains through SEFIR domains and catalyzes 'Lys-63'-linked polyubiquitination of TRAF6, leading to TRAF6-mediated activation of NF-kappa-B and MAPkinase pathways (PubMed:19825828).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence={ECO:0000269|PubMed:19825828};.

Enzyme Numbers (IUBMB) for TRAF3IP2 Gene

Phenotypes From GWAS Catalog for TRAF3IP2 Gene

Gene Ontology (GO) - Molecular Function for TRAF3IP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IEA --
GO:0005515 protein binding IPI 12459498
GO:0016740 transferase activity IEA --
GO:0061630 ubiquitin protein ligase activity IDA 19825828
genes like me logo Genes that share ontologies with TRAF3IP2: view
genes like me logo Genes that share phenotypes with TRAF3IP2: view

Human Phenotype Ontology for TRAF3IP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TRAF3IP2 Gene

MGI Knock Outs for TRAF3IP2:

miRNA for TRAF3IP2 Gene

miRTarBase miRNAs that target TRAF3IP2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRAF3IP2

Clone products for research

No data available for Transcription Factor Targets and HOMER Transcription for TRAF3IP2 Gene

Localization for TRAF3IP2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TRAF3IP2 gene
Compartment Confidence
nucleus 3
cytosol 3
extracellular 2
golgi apparatus 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TRAF3IP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with TRAF3IP2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TRAF3IP2 Gene

Pathways & Interactions for TRAF3IP2 Gene

PathCards logo

SuperPathways for TRAF3IP2 Gene

SuperPathway Contained pathways
1 IL-17 Family Signaling Pathways
.48
2 Cytokine production by Th17 cells in CF (Mouse model)
.72
.72
3 Cellular senescence (KEGG)
4 4-1BB Pathway
.54
genes like me logo Genes that share pathways with TRAF3IP2: view

Pathways by source for TRAF3IP2 Gene

1 BioSystems pathway for TRAF3IP2 Gene
2 KEGG pathways for TRAF3IP2 Gene
3 GeneGo (Thomson Reuters) pathways for TRAF3IP2 Gene
  • Cytokine production by Th17 cells in CF
  • Cytokine production by Th17 cells in CF (Mouse model)
  • Mucin expression in CF via IL-6, IL-17 signaling pathways
1 R&D Systems pathway for TRAF3IP2 Gene
1 Qiagen pathway for TRAF3IP2 Gene
  • CD40 Signaling

SIGNOR curated interactions for TRAF3IP2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for TRAF3IP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001783 B cell apoptotic process IEA --
GO:0002230 positive regulation of defense response to virus by host IDA 23066157
GO:0006954 inflammatory response IEA --
GO:0006959 humoral immune response IBA 21873635
GO:0035556 intracellular signal transduction NAS 10962033
genes like me logo Genes that share ontologies with TRAF3IP2: view

Drugs & Compounds for TRAF3IP2 Gene

(3) Drugs for TRAF3IP2 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nevirapine Approved Pharma 233

(1) Additional Compounds for TRAF3IP2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TRAF3IP2: view

Transcripts for TRAF3IP2 Gene

mRNA/cDNA for TRAF3IP2 Gene

5 REFSEQ mRNAs :
25 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRAF3IP2

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for TRAF3IP2 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15a ·
SP1: - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - -
SP4: - - - -
SP5: - -
SP6:
SP7: - - - - -
SP8: - -
SP9:
SP10: -
SP11: - - - - - -

ExUns: 15b · 15c · 15d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for TRAF3IP2 Gene

GeneLoc Exon Structure for
TRAF3IP2

Expression for TRAF3IP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TRAF3IP2 Gene

Protein differential expression in normal tissues from HIPED for TRAF3IP2 Gene

This gene is overexpressed in Pancreatic juice (36.4), Bone marrow stromal cell (23.1), and Platelet (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TRAF3IP2 Gene



Protein tissue co-expression partners for TRAF3IP2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TRAF3IP2

SOURCE GeneReport for Unigene cluster for TRAF3IP2 Gene:

Hs.561514

mRNA Expression by UniProt/SwissProt for TRAF3IP2 Gene:

O43734-CIKS_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for TRAF3IP2 Gene

  • Kidney(4.4)
  • Intestine(4.4)
  • Liver(4.3)
  • Nervous system(3.9)
  • Lung(3)
  • Skin(2.8)
  • Blood(2.1)
  • Lymph node(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TRAF3IP2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • reproductive
  • respiratory
  • skeleton
Regions:
Head and neck:
  • eye
  • eyelid
  • face
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • pharynx
  • skull
  • tongue
  • tooth
Thorax:
  • esophagus
  • thymus
Abdomen:
  • liver
  • spleen
Pelvis:
  • vagina
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with TRAF3IP2: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TRAF3IP2 Gene

Orthologs for TRAF3IP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TRAF3IP2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TRAF3IP2 29 30
  • 99.47 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TRAF3IP2 29 30
  • 87.27 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Traf3ip2 29 16 30
  • 85.64 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TRAF3IP2 29 30
  • 84.88 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Traf3ip2 29
  • 84.37 (n)
Oppossum
(Monodelphis domestica)
Mammalia TRAF3IP2 30
  • 71 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TRAF3IP2 30
  • 47 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TRAF3IP2 29 30
  • 67.19 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TRAF3IP2 30
  • 53 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.3945 29
Zebrafish
(Danio rerio)
Actinopterygii traf3ip2 30
  • 36 (a)
OneToMany
traf3ip2l 30
  • 30 (a)
OneToMany
TRAF3IP2 (1 of 3) 30
  • 28 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10695 30
  • 19 (a)
OneToOne
Species where no ortholog for TRAF3IP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for TRAF3IP2 Gene

ENSEMBL:
Gene Tree for TRAF3IP2 (if available)
TreeFam:
Gene Tree for TRAF3IP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TRAF3IP2: view image
Alliance of Genome Resources:
Additional Orthologs for TRAF3IP2

Paralogs for TRAF3IP2 Gene

No data available for Paralogs for TRAF3IP2 Gene

Variants for TRAF3IP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TRAF3IP2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
1000396 Uncertain Significance: Candidiasis, familial, 8 111,566,503(-) C/T
NM_147686.4(TRAF3IP2):c.1417G>A (p.Ala473Thr)
MISSENSE
1006065 Uncertain Significance: Candidiasis, familial, 8 111,559,557(-) G/T
NM_147686.4(TRAF3IP2):c.1552-6C>A
INTRON
1008330 Uncertain Significance: Candidiasis, familial, 8 111,591,744(-) C/T
NM_147686.4(TRAF3IP2):c.343G>A (p.Glu115Lys)
MISSENSE
1008771 Uncertain Significance: Candidiasis, familial, 8 111,591,504(-) T/C
NM_147686.4(TRAF3IP2):c.583A>G (p.Ile195Val)
MISSENSE
1009291 Uncertain Significance: Candidiasis, familial, 8 111,591,521(-) C/T
NM_147686.4(TRAF3IP2):c.566G>A (p.Gly189Asp)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TRAF3IP2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TRAF3IP2 Gene

Variant ID Type Subtype PubMed ID
esv2732577 CNV deletion 23290073
esv2732578 CNV deletion 23290073

Variation tolerance for TRAF3IP2 Gene

Residual Variation Intolerance Score: 82.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.72; 73.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TRAF3IP2 Gene

Human Gene Mutation Database (HGMD)
TRAF3IP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRAF3IP2
Leiden Open Variation Database (LOVD)
TRAF3IP2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRAF3IP2 Gene

Disorders for TRAF3IP2 Gene

MalaCards: The human disease database

(16) MalaCards diseases for TRAF3IP2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
candidiasis, familial, 8
  • candf8
psoriasis 13
  • psoriasis 13, susceptibility to
discoid lupus erythematosus
  • lupus erythematosus discoid
chronic mucocutaneous candidiasis
  • familiar chronic mucocutaneous candidiasis
candidiasis, familial, 2
  • candf2
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CIKS_HUMAN
  • Psoriasis 13 (PSORS13) [MIM:614070]: A common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis. {ECO:0000269 PubMed:20953186, ECO:0000269 PubMed:20953188}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
  • Candidiasis, familial, 8 (CANDF8) [MIM:615527]: A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans. {ECO:0000269 PubMed:24120361}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for TRAF3IP2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TRAF3IP2: view

No data available for Genatlas for TRAF3IP2 Gene

Publications for TRAF3IP2 Gene

  1. Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2. (PMID: 20953188) Ellinghaus E … Franke A (Nature genetics 2010) 3 4 40 72
  2. Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis. (PMID: 20953186) Hüffmeier U … Reis A (Nature genetics 2010) 3 4 40 72
  3. Act1, an NF-kappa B-activating protein. (PMID: 10962024) Li X … Stark GR (Proceedings of the National Academy of Sciences of the United States of America 2000) 2 3 4 22
  4. CIKS, a connection to Ikappa B kinase and stress-activated protein kinase. (PMID: 10962033) Leonardi A … Siebenlist U (Proceedings of the National Academy of Sciences of the United States of America 2000) 2 3 4 22
  5. An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis. (PMID: 24120361) Boisson B … Casanova JL (Immunity 2013) 3 4 72

Products for TRAF3IP2 Gene

Sources for TRAF3IP2 Gene