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

    Gene ID: 10758, updated on 22-Sep-2016
    Official Symbol
    TRAF3IP2provided by HGNC
    Official Full Name
    TRAF3 interacting protein 2provided by HGNC
    Primary source
    HGNC:HGNC:1343
    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]
    Orthologs
    Location:
    6q21
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (111555378..111606874, 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 TRAF3IP2 antisense RNA 1 Neighboring gene uncharacterized LOC107986520 Neighboring gene uncharacterized LOC107986522 Neighboring gene uncharacterized LOC105377944 Neighboring gene uncharacterized LOC105377945 Neighboring gene FYN proto-oncogene, Src family tyrosine kinase

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Candidiasis, familial, 8
    MedGen: C3714992 OMIM: 615527 GeneReviews: Not available
    Compare labs
    Psoriasis susceptibility 13
    MedGen: C3279754 OMIM: 614070 GeneReviews: Not available
    Compare labs

    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 
    receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    positive regulation of defense response to virus by host IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cellular_component ND
    No biological Data available
    more info
     
    intracellular IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    adapter protein CIKS
    Names
    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 RefSeqGene

      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
      Related
      ENSP00000352889, OTTHUMP00000017025, ENST00000359831, OTTHUMT00000041845
      Conserved Domains (2) summary
      pfam08357
      Location:401542
      SEFIR; SEFIR domain
      cl01053
      Location:311409
      SGNH_hydrolase; SGNH_hydrolase, or GDSL_hydrolase, is a diverse family of lipases and esterases. The tertiary fold of the enzyme is substantially different from that of the alpha/beta hydrolase family and unique among all known hydrolases; its active site closely ...
    2. NM_001164283.2NP_001157755.1  adapter protein CIKS isoform 5

      See identical proteins and their annotated locations for 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
      Related
      ENSP00000357724, OTTHUMP00000017023, ENST00000368735, OTTHUMT00000041842
      Conserved Domains (1) summary
      cl23749
      Location:187
      TIR_2; TIR domain
    3. NM_147200.2NP_671733.2  adapter protein CIKS isoform 1

      See identical proteins and their annotated locations for NP_671733.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) contains an alternate 5' exon which results in the use of an upstream in-frame start codon, compared to variant 2. The encoded isoform (1) has a longer N-terminus compared to isoform 2.
      Source sequence(s)
      AF136405, AK025351, DA665549
      Consensus CDS
      CCDS5092.1
      UniProtKB/Swiss-Prot
      O43734
      Related
      ENSP00000345984, OTTHUMP00000017022, ENST00000340026, OTTHUMT00000041841
      Conserved Domains (2) summary
      pfam08357
      Location:410552
      SEFIR; SEFIR domain
      cl01053
      Location:320418
      SGNH_hydrolase; SGNH_hydrolase, or GDSL_hydrolase, is a diverse family of lipases and esterases. The tertiary fold of the enzyme is substantially different from that of the alpha/beta hydrolase family and unique among all known hydrolases; its active site closely ...
    4. NM_147686.3NP_679211.2  adapter protein CIKS isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes 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
      pfam08357
      Location:401543
      SEFIR; SEFIR domain
      cl01053
      Location:311409
      SGNH_hydrolase; SGNH_hydrolase, or GDSL_hydrolase, is a diverse family of lipases and esterases. The tertiary fold of the enzyme is substantially different from that of the alpha/beta hydrolase family and unique among all known hydrolases; its active site closely ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

      Range
      111555378..111606874 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535386.1XP_011533688.1  

      See identical proteins and their annotated locations for XP_011533688.1

      UniProtKB/Swiss-Prot
      O43734
      Conserved Domains (2) summary
      pfam08357
      Location:410552
      SEFIR; SEFIR domain
      cl01053
      Location:320418
      SGNH_hydrolase; SGNH_hydrolase, or GDSL_hydrolase, is a diverse family of lipases and esterases. The tertiary fold of the enzyme is substantially different from that of the alpha/beta hydrolase family and unique among all known hydrolases; its active site closely ...
    2. XM_006715319.3XP_006715382.1  

      See identical proteins and their annotated locations for XP_006715382.1

      UniProtKB/Swiss-Prot
      O43734
      Conserved Domains (1) summary
      cl23749
      Location:187
      TIR_2; TIR domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      112139458..112190300 complement
      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. NR_028338.2: Suppressed sequence

      Description
      NR_028338.2: This RefSeq was permanently suppressed because it is now thought that this transcript variant encodes a protein.
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