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TRAF3IP2 TRAF3 interacting protein 2 [ Homo sapiens (human) ]

Gene ID: 10758, updated on 29-Jul-2014
Official Symbol
TRAF3IP2provided by HGNC
Official Full Name
TRAF3 interacting protein 2provided by HGNC
Primary source
HGNC:1343
Locus tag
RP3-487J7.3
See related
Ensembl:ENSG00000056972; HPRD:06129; MIM:607043; Vega:OTTHUMG00000015379
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ACT1; CIKS; C6orf2; C6orf4; C6orf5; C6orf6; CANDF8; PSORS13
Summary
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]
See TRAF3IP2 in Epigenomics, MapViewer
Location:
6q21
Exon count:
12
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 6 NC_000006.12 (111555378..111606274, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (111876581..111927477, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene REV3-like, polymerase (DNA directed), zeta, catalytic subunit Neighboring gene bromodomain containing 7 pseudogene 4 Neighboring gene TRAF3IP2 antisense RNA 1 Neighboring gene uncharacterized LOC100996652 Neighboring gene FYN proto-oncogene, Src family tyrosine kinase Neighboring gene small nuclear ribonucleoprotein-associated protein B'-like Neighboring gene uncharacterized LOC102724646

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Candidiasis, familial, 8
MedGen: CN181495 OMIM: 615527 GeneReviews: Not available
not available
Psoriasis susceptibility 13
MedGen: C3279754 OMIM: 614070 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.
NHGRI GWA Catalog
Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.
NHGRI GWA Catalog
Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
  • IL17 signaling pathway, organism-specific biosystem (from WikiPathways)
    IL17 signaling pathway, organism-specific biosystemInterleukin 17 is a family of cytokines that acts as potent mediators in delayed-type reactions by increasing chemokine production in various tissues to recruit monocytes and neutrophils to the site ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC3581, DKFZp586G0522

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
B cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
humoral immune response IEA
Inferred from Electronic Annotation
more info
 
immunoglobulin secretion IEA
Inferred from Electronic Annotation
more info
 
intracellular signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of I-kappaB kinase/NF-kappaB signaling IEP
Inferred from Expression Pattern
more info
PubMed 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
Preferred Names
adapter protein CIKS
Names
adapter protein CIKS
NFkB-activating protein ACT1
connection to IKK and SAPK/JNK
nuclear factor NF-kappa-B activator 1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032030.1 

    Range
    5001..55897
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001164281.2NP_001157753.1  adapter protein CIKS isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame acceptor splice site at an internal coding exon compared to variant 2. This results in an isoform (3) that is 1 aa shorter than isoform 2.
    Source sequence(s)
    AF136405, AF136407, AK025351, AL008730, AW296296, AW513823, DA130363, DA836923
    Consensus CDS
    CCDS55050.1
    UniProtKB/Swiss-Prot
    O43734
    Conserved Domains (2) summary
    pfam04959
    Location:298389
    Blast Score: 98
    ARS2; Arsenite-resistance protein 2
    pfam08357
    Location:401542
    Blast Score: 369
    SEFIR; SEFIR domain
  2. NM_001164283.2NP_001157755.1  adapter protein CIKS isoform 5

    See proteins identical to NP_001157755.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks several exons from the 5' end, and contains an alternate 5' terminal exon compared to variant 2. This results in translation initiation from a downstream AUG, and a shorter isoform (5) compared to isoform 2.
    Source sequence(s)
    AF136405, AF136407, AL008730, AW296296, AW513823, BI856094, CB049654, DA130363
    Consensus CDS
    CCDS55049.1
    UniProtKB/Swiss-Prot
    O43734
    Conserved Domains (1) summary
    pfam08357
    Location:187
    Blast Score: 210
    SEFIR; SEFIR domain
  3. NM_147686.3NP_679211.2  adapter protein CIKS isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes the longest isoform (2).
    Source sequence(s)
    AF136405, AF136406, AF136407, AL008730, AW296296, AW513823, DA130363, DA836923
    Consensus CDS
    CCDS5093.1
    UniProtKB/Swiss-Prot
    O43734
    Related
    ENSP00000357750, OTTHUMP00000017024, ENST00000368761, OTTHUMT00000041844
    Conserved Domains (2) summary
    pfam04959
    Location:298389
    Blast Score: 98
    ARS2; Arsenite-resistance protein 2
    pfam08357
    Location:401543
    Blast Score: 380
    SEFIR; SEFIR domain

RNA

  1. NR_028338.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript, and contains an additional exon at the 5' end compared to variant 1. It is represented as non-coding due to the presence of an upstream ORF (with a strong Kozak signal) that is predicted to interfere with the translation of the longest downstream ORF; translation of the upstream ORF renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF136405, AF136407, AL008730, AW296296, AW513823, DA130363, DA836923

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 

    Range
    111555378..111606274
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715319.1XP_006715382.1  

    See proteins identical to XP_006715382.1

    UniProtKB/Swiss-Prot
    O43734
    Conserved Domains (1) summary
    pfam08357
    Location:187
    Blast Score: 210
    SEFIR; SEFIR domain

Alternate HuRef

Genomic

  1. AC_000138.1 

    Range
    109448986..109500061
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 

    Range
    112139458..112190300
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001164282.1: Suppressed sequence

    Description
    NM_001164282.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  2. NM_147200.1: Suppressed sequence

    Description
    NM_147200.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.