Human Gene TRAF3IP2 (uc011ebc.3) Description and Page Index
  Description: Homo sapiens TRAF3 interacting protein 2 (TRAF3IP2), transcript variant 1, non-coding RNA.
RefSeq Summary (NM_147686): 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].
Transcript (Including UTRs)
   Position: hg19 chr6:111,876,581-111,927,477 Size: 50,897 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr6:111,880,608-111,913,289 Size: 32,682 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:111,876,581-111,927,477)mRNA (may differ from genome)Protein (565 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMGIneXtProt
OMIMPubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: CIKS_HUMAN
DESCRIPTION: RecName: Full=Adapter protein CIKS; AltName: Full=Connection to IKK and SAPK/JNK; AltName: Full=Nuclear factor NF-kappa-B activator 1; Short=ACT1; AltName: Full=TRAF3-interacting protein 2;
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.
SUBUNIT: Interacts with IKBKG/NF-kappa B essential modulator, with CHUK/IKK-alpha and with IKBKB/IKK-beta. Interacts with TRAF6.
TISSUE SPECIFICITY: Widely expressed.
DISEASE: Defects in TRAF3IP2 are the cause of susceptibility to psoriasis type 13 (PSORS13) [MIM:614070]. PSORS13 is 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.
SIMILARITY: Contains 1 SEFIR domain.
SEQUENCE CAUTION: Sequence=BAB15507.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): TRAF3IP2
CDC HuGE Published Literature: TRAF3IP2
Positive Disease Associations: Arthritis, Psoriatic , Cholesterol , Cholesterol, LDL , Coronary Artery Disease , Insulin , Insulin Resistance , Psoriasis
Related Studies:
  1. Arthritis, Psoriatic
    , Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis., Nature genetics. [PubMed 20953186]
  2. Cholesterol
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
  3. Cholesterol, LDL
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: TRAF3IP2
Diseases sorted by gene-association score: candidiasis, familial, 8* (1379), psoriasis susceptibility 13* (875), chronic mucocutaneous candidiasis* (184), candidiasis (18), psoriasis (11), combat disorder (11), acute stress disorder (9), pericarditis (8)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.12 RPKM in Skin - Sun Exposed (Lower leg)
Total median expression: 226.15 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -219.36618-0.355 Picture PostScript Text
3' UTR -1677.084027-0.416 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013568 - SEFIR

Pfam Domains:
PF08357 - SEFIR domain

ModBase Predicted Comparative 3D Structure on O43734
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005102 receptor binding
GO:0005515 protein binding

Biological Process:
GO:0001783 B cell apoptotic process
GO:0002230 positive regulation of defense response to virus by host
GO:0006959 humoral immune response
GO:0035556 intracellular signal transduction
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0048305 immunoglobulin secretion

Cellular Component:
GO:0005575 cellular_component
GO:0005622 intracellular


-  Descriptions from all associated GenBank mRNAs
  JD415096 - Sequence 396120 from Patent EP1572962.
JD069820 - Sequence 50844 from Patent EP1572962.
JD513998 - Sequence 495022 from Patent EP1572962.
JD120663 - Sequence 101687 from Patent EP1572962.
JD415095 - Sequence 396119 from Patent EP1572962.
AF136407 - Homo sapiens unknown mRNA.
JD493812 - Sequence 474836 from Patent EP1572962.
JD067553 - Sequence 48577 from Patent EP1572962.
JD518225 - Sequence 499249 from Patent EP1572962.
JD122272 - Sequence 103296 from Patent EP1572962.
JD504905 - Sequence 485929 from Patent EP1572962.
JD091436 - Sequence 72460 from Patent EP1572962.
JD504904 - Sequence 485928 from Patent EP1572962.
JD311619 - Sequence 292643 from Patent EP1572962.
JD212297 - Sequence 193321 from Patent EP1572962.
JD212108 - Sequence 193132 from Patent EP1572962.
JD341522 - Sequence 322546 from Patent EP1572962.
JD119158 - Sequence 100182 from Patent EP1572962.
JD518503 - Sequence 499527 from Patent EP1572962.
JD493410 - Sequence 474434 from Patent EP1572962.
JD069854 - Sequence 50878 from Patent EP1572962.
JD221430 - Sequence 202454 from Patent EP1572962.
JD535675 - Sequence 516699 from Patent EP1572962.
JD337736 - Sequence 318760 from Patent EP1572962.
JD514495 - Sequence 495519 from Patent EP1572962.
JD414562 - Sequence 395586 from Patent EP1572962.
JD228270 - Sequence 209294 from Patent EP1572962.
JD098743 - Sequence 79767 from Patent EP1572962.
JD367367 - Sequence 348391 from Patent EP1572962.
JD247502 - Sequence 228526 from Patent EP1572962.
JD154419 - Sequence 135443 from Patent EP1572962.
JD427072 - Sequence 408096 from Patent EP1572962.
JD350053 - Sequence 331077 from Patent EP1572962.
JD117234 - Sequence 98258 from Patent EP1572962.
JD117235 - Sequence 98259 from Patent EP1572962.
JD366435 - Sequence 347459 from Patent EP1572962.
JD366436 - Sequence 347460 from Patent EP1572962.
JD534809 - Sequence 515833 from Patent EP1572962.
JD292570 - Sequence 273594 from Patent EP1572962.
JD155866 - Sequence 136890 from Patent EP1572962.
JD092093 - Sequence 73117 from Patent EP1572962.
JD059727 - Sequence 40751 from Patent EP1572962.
JD105897 - Sequence 86921 from Patent EP1572962.
JD517584 - Sequence 498608 from Patent EP1572962.
JD534810 - Sequence 515834 from Patent EP1572962.
JD155867 - Sequence 136891 from Patent EP1572962.
JD199907 - Sequence 180931 from Patent EP1572962.
JD534811 - Sequence 515835 from Patent EP1572962.
JD155868 - Sequence 136892 from Patent EP1572962.
JD059728 - Sequence 40752 from Patent EP1572962.
JD149380 - Sequence 130404 from Patent EP1572962.
JD223639 - Sequence 204663 from Patent EP1572962.
JD438327 - Sequence 419351 from Patent EP1572962.
JD337251 - Sequence 318275 from Patent EP1572962.
JD306804 - Sequence 287828 from Patent EP1572962.
JD246257 - Sequence 227281 from Patent EP1572962.
JD463146 - Sequence 444170 from Patent EP1572962.
JD213169 - Sequence 194193 from Patent EP1572962.
JD533898 - Sequence 514922 from Patent EP1572962.
JD542951 - Sequence 523975 from Patent EP1572962.
JD165263 - Sequence 146287 from Patent EP1572962.
JD262108 - Sequence 243132 from Patent EP1572962.
JD087101 - Sequence 68125 from Patent EP1572962.
JD367515 - Sequence 348539 from Patent EP1572962.
JD493423 - Sequence 474447 from Patent EP1572962.
JD257491 - Sequence 238515 from Patent EP1572962.
JD161739 - Sequence 142763 from Patent EP1572962.
JD153353 - Sequence 134377 from Patent EP1572962.
JD198509 - Sequence 179533 from Patent EP1572962.
JD140651 - Sequence 121675 from Patent EP1572962.
JD198508 - Sequence 179532 from Patent EP1572962.
JD198510 - Sequence 179534 from Patent EP1572962.
JD338369 - Sequence 319393 from Patent EP1572962.
JD140652 - Sequence 121676 from Patent EP1572962.
JD153351 - Sequence 134375 from Patent EP1572962.
JD265892 - Sequence 246916 from Patent EP1572962.
JD302887 - Sequence 283911 from Patent EP1572962.
JD367068 - Sequence 348092 from Patent EP1572962.
JD090030 - Sequence 71054 from Patent EP1572962.
JD112661 - Sequence 93685 from Patent EP1572962.
JD250222 - Sequence 231246 from Patent EP1572962.
JD085246 - Sequence 66270 from Patent EP1572962.
JD447751 - Sequence 428775 from Patent EP1572962.
JD332061 - Sequence 313085 from Patent EP1572962.
JD175752 - Sequence 156776 from Patent EP1572962.
JD138234 - Sequence 119258 from Patent EP1572962.
JD295268 - Sequence 276292 from Patent EP1572962.
AK026602 - Homo sapiens cDNA: FLJ22949 fis, clone KAT09604.
AF274303 - Homo sapiens NFkB-activating protein ACT1 (ACT1) mRNA, complete cds.
BC002823 - Homo sapiens TRAF3 interacting protein 2, mRNA (cDNA clone MGC:3581 IMAGE:3634505), complete cds.
AF136405 - Homo sapiens unknown mRNA.
AK025351 - Homo sapiens cDNA: FLJ21698 fis, clone COL09828.
AL050289 - Homo sapiens mRNA; cDNA DKFZp586G0522 (from clone DKFZp586G0522).
AF136406 - Homo sapiens unknown mRNA.
AF272151 - Homo sapiens adaptor protein CIKS mRNA, complete cds.
BC026723 - Homo sapiens TRAF3 interacting protein 2, mRNA (cDNA clone IMAGE:3924420).
JD283632 - Sequence 264656 from Patent EP1572962.
JD273747 - Sequence 254771 from Patent EP1572962.
JD167236 - Sequence 148260 from Patent EP1572962.
JD401403 - Sequence 382427 from Patent EP1572962.
JD179656 - Sequence 160680 from Patent EP1572962.
JD457860 - Sequence 438884 from Patent EP1572962.
JD477782 - Sequence 458806 from Patent EP1572962.
JD055949 - Sequence 36973 from Patent EP1572962.
AK314415 - Homo sapiens cDNA, FLJ95198.
JF432241 - Synthetic construct Homo sapiens clone IMAGE:100073407 TRAF3 interacting protein 2 (TRAF3IP2) gene, encodes complete protein.
KJ898280 - Synthetic construct Homo sapiens clone ccsbBroadEn_07674 TRAF3IP2 gene, encodes complete protein.
AB527814 - Synthetic construct DNA, clone: pF1KB9987, Homo sapiens TRAF3IP2 gene for TRAF3 interacting protein 2, without stop codon, in Flexi system.
AK310922 - Homo sapiens cDNA, FLJ17964.
AK310141 - Homo sapiens cDNA, FLJ17183.
CU678222 - Synthetic construct Homo sapiens gateway clone IMAGE:100019884 5' read TRAF3IP2 mRNA.
AF085921 - Homo sapiens full length insert cDNA clone YR41H08.
JD369730 - Sequence 350754 from Patent EP1572962.
JD378659 - Sequence 359683 from Patent EP1572962.
JD456151 - Sequence 437175 from Patent EP1572962.
JD335018 - Sequence 316042 from Patent EP1572962.
JD434880 - Sequence 415904 from Patent EP1572962.
JD062790 - Sequence 43814 from Patent EP1572962.
JD125167 - Sequence 106191 from Patent EP1572962.
JD323115 - Sequence 304139 from Patent EP1572962.
JD443804 - Sequence 424828 from Patent EP1572962.
JD400260 - Sequence 381284 from Patent EP1572962.
JD142855 - Sequence 123879 from Patent EP1572962.
JD270353 - Sequence 251377 from Patent EP1572962.
JD504752 - Sequence 485776 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B2RAY9, C6orf2, C6orf4, C6orf5, C6orf6, CIKS_HUMAN, E1P555, NM_147686, NP_679211, NR_028338, O43734, Q5R3A3, Q7Z6Q2, Q7Z6Q3, Q9H5W2, Q9H6Y3, Q9NS14, Q9UG72, uc011ebc.2
UCSC ID: uc011ebc.3
RefSeq Accession: NM_147686
Protein: O43734 (aka CIKS_HUMAN)
CCDS: CCDS5093.1, CCDS55050.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NR_028338.2
exon count: 10CDS single in 3' UTR: no RNA size: 6355
ORF size: 1698CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3317.50frame shift in genome: no % Coverage: 99.81
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.