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    TANK TRAF family member associated NFKB activator [ Homo sapiens (human) ]

    Gene ID: 10010, updated on 10-Dec-2024

    Summary

    Official Symbol
    TANKprovided by HGNC
    Official Full Name
    TRAF family member associated NFKB activatorprovided by HGNC
    Primary source
    HGNC:HGNC:11562
    See related
    Ensembl:ENSG00000136560 MIM:603893; AllianceGenome:HGNC:11562
    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
    ITRAF; TRAF2; I-TRAF
    Summary
    The TRAF (tumor necrosis factor receptor-associated factor) family of proteins associate with and transduce signals from members of the tumor necrosis factor receptor superfamily. The protein encoded by this gene is found in the cytoplasm and can bind to TRAF1, TRAF2, or TRAF3, thereby inhibiting TRAF function by sequestering the TRAFs in a latent state in the cytoplasm. For example, the protein encoded by this gene can block TRAF2 binding to LMP1, the Epstein-Barr virus transforming protein, and inhibit LMP1-mediated NF-kappa-B activation. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
    Expression
    Ubiquitous expression in appendix (RPKM 16.5), lymph node (RPKM 16.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TANK in Genome Data Viewer
    Location:
    2q24.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (161136963..161236230)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (161595211..161694538)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (161993474..162092741)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 423, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_54344 Neighboring gene DEAD-box helicase 18 pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_54373 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_54429 Neighboring gene Sharpr-MPRA regulatory region 6450 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16702 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12050 Neighboring gene TANK antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16703 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12052 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12053 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16704 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:162016649-162017412 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_54722 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16707 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_54734 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_54744 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_54751 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_54752 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16708 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12054 Neighboring gene VISTA enhancer hs416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16710 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16709 Neighboring gene PSMD14 divergent transcript Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:162101046-162101546 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12057 Neighboring gene long intergenic non-protein coding RNA 1806 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:162134920-162135556 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr2:162135557-162136192 Neighboring gene Sharpr-MPRA regulatory region 15701 Neighboring gene Sharpr-MPRA regulatory region 9806 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16712 Neighboring gene proteasome 26S subunit, non-ATPase 14 Neighboring gene MXRA7 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Beyond single-marker analyses: mining whole genome scans for insights into treatment responses in severe sepsis.
    EBI GWAS Catalog
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    EBI GWAS Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog
    Genome-wide association study of antiphospholipid antibodies.
    EBI GWAS Catalog
    Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
    EBI GWAS Catalog
    GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    Novel locus including FGF21 is associated with dietary macronutrient intake.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to cysteine-type deubiquitinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables deubiquitinase activator activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables molecular adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables molecular function inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of serine/threonine protein kinase complex NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    TRAF family member-associated NF-kappa-B activator
    Names
    TRAF-interacting protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001199135.3NP_001186064.1  TRAF family member-associated NF-kappa-B activator isoform a

      See identical proteins and their annotated locations for NP_001186064.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 5' UTR exon compared to variant 1. Variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AC009299, AC009313
      Consensus CDS
      CCDS2215.1
      UniProtKB/Swiss-Prot
      D3DPB5, Q7Z4J6, Q92844, Q92885
      UniProtKB/TrEMBL
      B2R7S3, Q6NW12
      Related
      ENSP00000376505.2, ENST00000392749.7
      Conserved Domains (1) summary
      pfam12845
      Location:135186
      TBD; TBD domain
    2. NM_004180.3NP_004171.2  TRAF family member-associated NF-kappa-B activator isoform a

      See identical proteins and their annotated locations for NP_004171.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC009299, AC009313
      Consensus CDS
      CCDS2215.1
      UniProtKB/Swiss-Prot
      D3DPB5, Q7Z4J6, Q92844, Q92885
      UniProtKB/TrEMBL
      B2R7S3, Q6NW12
      Related
      ENSP00000259075.2, ENST00000259075.6
      Conserved Domains (1) summary
      pfam12845
      Location:135186
      TBD; TBD domain
    3. NM_133484.2NP_597841.1  TRAF family member-associated NF-kappa-B activator isoform b

      See identical proteins and their annotated locations for NP_597841.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks multiple exons from the 3' end and contains an alternate 3' segment compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus, as compared to isoform (a).
      Source sequence(s)
      AC009299, AC009313
      Consensus CDS
      CCDS46436.1
      UniProtKB/TrEMBL
      E7EWR8
      Related
      ENSP00000385983.1, ENST00000403609.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      161136963..161236230
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441820.1XP_047297776.1  TRAF family member-associated NF-kappa-B activator isoform X6

      UniProtKB/TrEMBL
      B2R7S3, Q6NW12
    2. XM_047441804.1XP_047297760.1  TRAF family member-associated NF-kappa-B activator isoform X1

    3. XM_005246207.4XP_005246264.3  TRAF family member-associated NF-kappa-B activator isoform X2

    4. XM_047441814.1XP_047297770.1  TRAF family member-associated NF-kappa-B activator isoform X5

      UniProtKB/TrEMBL
      B2R7S3, Q6NW12
    5. XM_047441806.1XP_047297762.1  TRAF family member-associated NF-kappa-B activator isoform X3

      UniProtKB/TrEMBL
      B2R7S3, Q6NW12
    6. XM_047441812.1XP_047297768.1  TRAF family member-associated NF-kappa-B activator isoform X5

      UniProtKB/TrEMBL
      B2R7S3, Q6NW12
    7. XM_047441805.1XP_047297761.1  TRAF family member-associated NF-kappa-B activator isoform X3

      UniProtKB/TrEMBL
      B2R7S3, Q6NW12
    8. XM_047441809.1XP_047297765.1  TRAF family member-associated NF-kappa-B activator isoform X4

      UniProtKB/TrEMBL
      B2R7S3, Q6NW12
    9. XM_024452335.2XP_024308103.1  TRAF family member-associated NF-kappa-B activator isoform X6

      UniProtKB/TrEMBL
      B2R7S3, Q6NW12
      Conserved Domains (1) summary
      pfam12845
      Location:164215
      TBD; TBD domain
    10. XM_047441821.1XP_047297777.1  TRAF family member-associated NF-kappa-B activator isoform X7

      UniProtKB/Swiss-Prot
      D3DPB5, Q7Z4J6, Q92844, Q92885
      UniProtKB/TrEMBL
      B2R7S3, Q6NW12

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      161595211..161694538
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340043.1XP_054196018.1  TRAF family member-associated NF-kappa-B activator isoform X6

      UniProtKB/TrEMBL
      B2R7S3, Q6NW12
    2. XM_054340035.1XP_054196010.1  TRAF family member-associated NF-kappa-B activator isoform X2

    3. XM_054340041.1XP_054196016.1  TRAF family member-associated NF-kappa-B activator isoform X5

      UniProtKB/TrEMBL
      B2R7S3, Q6NW12
    4. XM_054340037.1XP_054196012.1  TRAF family member-associated NF-kappa-B activator isoform X3

      UniProtKB/TrEMBL
      B2R7S3, Q6NW12
    5. XM_054340038.1XP_054196013.1  TRAF family member-associated NF-kappa-B activator isoform X8

      UniProtKB/TrEMBL
      B2R7S3, Q6NW12
    6. XM_054340040.1XP_054196015.1  TRAF family member-associated NF-kappa-B activator isoform X5

      UniProtKB/TrEMBL
      B2R7S3, Q6NW12
    7. XM_054340036.1XP_054196011.1  TRAF family member-associated NF-kappa-B activator isoform X3

      UniProtKB/TrEMBL
      B2R7S3, Q6NW12
    8. XM_054340039.1XP_054196014.1  TRAF family member-associated NF-kappa-B activator isoform X4

      UniProtKB/TrEMBL
      B2R7S3, Q6NW12
    9. XM_054340042.1XP_054196017.1  TRAF family member-associated NF-kappa-B activator isoform X6

      UniProtKB/TrEMBL
      B2R7S3, Q6NW12
    10. XM_054340044.1XP_054196019.1  TRAF family member-associated NF-kappa-B activator isoform X7

      UniProtKB/Swiss-Prot
      D3DPB5, Q7Z4J6, Q92844, Q92885
      UniProtKB/TrEMBL
      B2R7S3, Q6NW12
    11. XM_054340045.1XP_054196020.1  TRAF family member-associated NF-kappa-B activator isoform X9