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Aliases for TRAF3IP2 Gene

Aliases for TRAF3IP2 Gene

  • TRAF3 Interacting Protein 2 2 3 5
  • Nuclear Factor NF-Kappa-B Activator 1 3 4
  • Connection To IKK And SAPK/JNK 3 4
  • C6orf2 3 4
  • C6orf4 3 4
  • C6orf5 3 4
  • C6orf6 3 4
  • ACT1 3 4
  • Chromosome 6 Open Reading Frame 5 2
  • Chromosome 6 Open Reading Frame 2 2
  • NFkB-Activating Protein ACT1 3
  • TRAF3-Interacting Protein 2 4
  • Adapter Protein CIKS 3
  • PSORS13 3
  • CANDF8 3
  • CIKS 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 Cytokine production by Th17 cells in CF (Mouse model) and 4-1BB Pathway.

UniProtKB/Swiss-Prot for TRAF3IP2 Gene

  • Could be involved in the activation of both NF-kappa-B via a NF-kappa-B inhibitor kinase (IKK)-dependent mechanism and stress-activated protein kinase (SAPK)/JNK.

Gene Wiki entry for TRAF3IP2 Gene

Additional gene information for TRAF3IP2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TRAF3IP2 Gene

Genomics for TRAF3IP2 Gene

GeneHancer (GH) Regulatory Elements for TRAF3IP2 Gene

Promoters and enhancers for TRAF3IP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I111599 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 565.4 +3.5 3540 7.9 HDGF FOXA2 ARNT SIN3A YBX1 FEZF1 DMAP1 ZNF2 YY1 FOS TRAF3IP2 MFSD4B ENSG00000255389 ENSG00000220506 BRD7P4 CNN2P9 TUBE1 FCF1P5 REV3L GC06P111602
GH06I111563 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 572.8 +40.5 40489 6.3 PKNOX1 SIN3A FEZF1 ZNF2 ZNF213 ZNF416 ZNF143 FOS ZNF662 REST TRAF3IP2 MFSD4B ENSG00000220506 REV3L BRD7P4 FCF1P5 ENSG00000255389 TRAF3IP2-AS1 TUBE1 ENSG00000272356
GH06I111477 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 16.9 +125.2 125217 8.7 ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF263 REV3L TRAF3IP2-AS1 TUBE1 MFSD4B TRAF3IP2 GSTM2P1 ENSG00000255389 ENSG00000220506 BRD7P4 ENSG00000230177
GH06I111550 Enhancer 2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 17.3 +53.4 53416 5.9 PKNOX1 FOXA2 ARNT SIN3A FEZF1 ZNF2 YY1 GLIS2 ZNF213 SP3 ENSG00000255389 REV3L TRAF3IP2 MFSD4B ENSG00000220506 TRAF3IP2-AS1 BRD7P4 FCF1P5 GC06M111521 GC06M111495
GH06I111572 Enhancer 1.3 Ensembl ENCODE dbSUPER 23.6 +32.5 32454 4.8 MLX ARID4B FEZF1 DMAP1 ZNF48 ATF7 FOS RUNX3 NFYC ZHX2 ENSG00000255389 TRAF3IP2 REV3L TRAF3IP2-AS1 TUBE1 MFSD4B GC06P111586 GC06M111521
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TRAF3IP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TRAF3IP2 gene promoter:

Genomic Locations for TRAF3IP2 Gene

Genomic Locations for TRAF3IP2 Gene
chr6:111,555,378-111,606,874
(GRCh38/hg38)
Size:
51,497 bases
Orientation:
Minus strand
chr6:111,877,657-111,927,481
(GRCh37/hg19)

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:
    Adapter protein CIKS
    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. Interacts with TRAF6.
    SequenceCaution:
    • Sequence=BAB15507.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for TRAF3IP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRAF3IP2 Gene

Post-translational modifications for TRAF3IP2 Gene

No Post-translational modifications

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:
ProtoNet:

Suggested Antigen Peptide Sequences for TRAF3IP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TRAF3IP2: view

No data available for UniProtKB/Swiss-Prot for TRAF3IP2 Gene

Function for TRAF3IP2 Gene

Molecular function for TRAF3IP2 Gene

UniProtKB/Swiss-Prot Function:
Could be involved in the activation of both NF-kappa-B via a NF-kappa-B inhibitor kinase (IKK)-dependent mechanism and stress-activated protein kinase (SAPK)/JNK.

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 receptor binding IEA --
GO:0005515 protein binding IPI 12459498
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:

Animal Model Products

miRNA for TRAF3IP2 Gene

miRTarBase miRNAs that target TRAF3IP2

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
extracellular 2
nucleus 2
cytosol 2
golgi apparatus 2

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 --
GO:0005622 intracellular IEA --
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

genes like me logo Genes that share pathways with TRAF3IP2: view

Pathways by source for TRAF3IP2 Gene

1 R&D Systems pathway for TRAF3IP2 Gene
1 Qiagen pathway for TRAF3IP2 Gene

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:0006959 humoral immune response IEA --
GO:0035556 intracellular signal transduction NAS 10962033
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling IEP 12761501
genes like me logo Genes that share ontologies with TRAF3IP2: view

No data available for SIGNOR curated interactions for TRAF3IP2 Gene

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 224

(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

Unigene Clusters for TRAF3IP2 Gene

TRAF3 interacting protein 2:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
TRAF3IP2

Expression for TRAF3IP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for TRAF3IP2 Gene



Protein tissue co-expression partners for TRAF3IP2 Gene

NURSA nuclear receptor signaling pathways regulating expression of TRAF3IP2 Gene:

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

  • Intestine(4.2)
  • Kidney(4.2)
  • Liver(4.1)
  • Nervous system(3.6)
  • Lung(2.5)
  • Skin(2.3)
  • 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
Organs:
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

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 33 34
  • 99.47 (n)
cow
(Bos Taurus)
Mammalia TRAF3IP2 33 34
  • 87.27 (n)
mouse
(Mus musculus)
Mammalia Traf3ip2 33 16 34
  • 85.64 (n)
dog
(Canis familiaris)
Mammalia TRAF3IP2 33 34
  • 84.88 (n)
rat
(Rattus norvegicus)
Mammalia Traf3ip2 33
  • 84.37 (n)
oppossum
(Monodelphis domestica)
Mammalia TRAF3IP2 34
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TRAF3IP2 34
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves TRAF3IP2 33 34
  • 67.19 (n)
lizard
(Anolis carolinensis)
Reptilia TRAF3IP2 34
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.3945 33
zebrafish
(Danio rerio)
Actinopterygii traf3ip2 34
  • 36 (a)
OneToMany
traf3ip2l 34
  • 30 (a)
OneToMany
TRAF3IP2 (1 of 3) 34
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10695 34
  • 19 (a)
OneToOne
Species where no ortholog for TRAF3IP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for TRAF3IP2 Gene

No data available for Paralogs for TRAF3IP2 Gene

Variants for TRAF3IP2 Gene

Sequence variations from dbSNP and Humsavar for TRAF3IP2 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs139282334 benign, Candidiasis, familial, 8 111,591,438(-) G/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs186097801 benign, Candidiasis, familial, 8 111,559,489(-) G/A coding_sequence_variant, synonymous_variant
rs33980500 risk-factor, benign, Psoriasis susceptibility 13, not specified, Psoriasis 13 (PSORS13) [MIM:614070] 111,592,059(-) C/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs371382152 likely-benign, Candidiasis, familial, 8 111,566,543(-) G/A coding_sequence_variant, synonymous_variant
rs397518485 pathogenic, Candidiasis, familial, 8, Candidiasis, familial, 8 (CANDF8) [MIM:615527] 111,559,523(-) G/A coding_sequence_variant, missense_variant

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

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

Disorders for TRAF3IP2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for TRAF3IP2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
candidiasis, familial, 8
  • candidiasis, familial chronic mucocutaneous, autosomal recessive
psoriasis 13
  • psoriasis 13, susceptibility to
chronic mucocutaneous candidiasis
  • cmc
candidiasis
  • disseminated candidiasis
psoriasis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CIKS_HUMAN
  • 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 mutations affecting the gene represented in this entry.
  • 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 variations affecting the gene represented in this entry.

Additional Disease Information for TRAF3IP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TRAF3IP2: view

No data available for Genatlas for TRAF3IP2 Gene

Publications for TRAF3IP2 Gene

  1. 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 58
  2. 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 58
  3. Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis. (PMID: 20953186) Hüffmeier U … Reis A (Nature genetics 2010) 3 4 44 58
  4. Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2. (PMID: 20953188) Ellinghaus E … Franke A (Nature genetics 2010) 3 4 44 58
  5. NF-kappaB activator Act1 associates with IL-1/Toll pathway adaptor molecule TRAF6. (PMID: 12459498) Kanamori M … Suzuki H (FEBS letters 2002) 3 4 22 58

Products for TRAF3IP2 Gene

Sources for TRAF3IP2 Gene

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