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    TNIK TRAF2 and NCK interacting kinase [ Homo sapiens (human) ]

    Gene ID: 23043, updated on 15-Jun-2019

    Summary

    Official Symbol
    TNIKprovided by HGNC
    Official Full Name
    TRAF2 and NCK interacting kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:30765
    See related
    Ensembl:ENSG00000154310 MIM:610005
    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
    MRT54
    Summary
    Wnt signaling plays important roles in carcinogenesis and embryonic development. The protein encoded by this gene is a serine/threonine kinase that functions as an activator of the Wnt signaling pathway. Mutations in this gene are associated with an autosomal recessive form of cognitive disability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]
    Expression
    Broad expression in brain (RPKM 10.5), small intestine (RPKM 7.1) and 20 other tissues See more
    Orthologs

    Genomic context

    See TNIK in Genome Data Viewer
    Location:
    3q26.2-q26.31
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (171058414..171460408, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (170780292..171178197, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene RNA, U1 small nuclear 70, pseudogene Neighboring gene solute carrier family 2 member 2 Neighboring gene uncharacterized LOC105374216 Neighboring gene microRNA 569 Neighboring gene uncharacterized LOC102724479 Neighboring gene RNA, U6 small nuclear 348, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Mental retardation, autosomal recessive 54
    MedGen: C4310755 OMIM: 617028 GeneReviews: Not available
    not available

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype.
    NHGRI GWA Catalog
    Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
    NHGRI GWA Catalog

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    MAPK cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    actin cytoskeleton reorganization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    activation of JNKK activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    activation of JNKK activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    activation of protein kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    intracellular signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microvillus assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neuron projection morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of dendrite morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    signal transduction by protein phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    stress-activated protein kinase signaling cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    extracellular exosome HDA PubMed 
    glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    postsynaptic density, intracellular component IEA
    Inferred from Electronic Annotation
    more info
     
    presynapse IEA
    Inferred from Electronic Annotation
    more info
     
    recycling endosome IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    TRAF2 and NCK-interacting protein kinase
    NP_001155032.1
    NP_001155033.1
    NP_001155034.1
    NP_001155035.1
    NP_001155036.1
    NP_001155037.1
    NP_001155038.1
    NP_055843.1

    NCBI Reference Sequences (RefSeq)

    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_054934.1 RefSeqGene

      Range
      5001..406995
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001161560.3NP_001155032.1  TRAF2 and NCK-interacting protein kinase isoform 2

      See identical proteins and their annotated locations for NP_001155032.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the middle portion of the coding region compared to variant 1. This results in a shorter protein (isoform 2) compared to isoform 1.
      Source sequence(s)
      AC026315, AC078793, AC092919, AC137517
      Consensus CDS
      CCDS54679.1
      UniProtKB/Swiss-Prot
      Q9UKE5
      Related
      ENSP00000284483.8, ENST00000284483.12
      Conserved Domains (3) summary
      smart00036
      Location:10341332
      CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2
      smart00220
      Location:25289
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd06637
      Location:18313
      STKc_TNIK; Catalytic domain of the Serine/Threonine Kinase, Traf2- and Nck-Interacting Kinase
    2. NM_001161561.3NP_001155033.1  TRAF2 and NCK-interacting protein kinase isoform 3

      See identical proteins and their annotated locations for NP_001155033.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the middle portion of the coding region compared to variant 1. This results in a shorter protein (isoform 3) compared to isoform 1.
      Source sequence(s)
      AC026315, AC078793, AC092919, AC137517
      Consensus CDS
      CCDS54676.1
      UniProtKB/Swiss-Prot
      Q9UKE5
      Related
      ENSP00000349880.5, ENST00000357327.9
      Conserved Domains (3) summary
      smart00036
      Location:10131311
      CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2
      smart00220
      Location:25289
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd06637
      Location:18313
      STKc_TNIK; Catalytic domain of the Serine/Threonine Kinase, Traf2- and Nck-Interacting Kinase
    3. NM_001161562.3NP_001155034.1  TRAF2 and NCK-interacting protein kinase isoform 4

      See identical proteins and their annotated locations for NP_001155034.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two in-frame exons in the middle portion of the coding region compared to variant 1. This results in a shorter protein (isoform 4) compared to isoform 1.
      Source sequence(s)
      AC026315, AC078793, AC092919, AC137517
      Consensus CDS
      CCDS54675.1
      UniProtKB/Swiss-Prot
      Q9UKE5
      Related
      ENSP00000419990.1, ENST00000470834.5
      Conserved Domains (3) summary
      smart00036
      Location:10051303
      CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2
      smart00220
      Location:25289
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd06637
      Location:18313
      STKc_TNIK; Catalytic domain of the Serine/Threonine Kinase, Traf2- and Nck-Interacting Kinase
    4. NM_001161563.3NP_001155035.1  TRAF2 and NCK-interacting protein kinase isoform 5

      See identical proteins and their annotated locations for NP_001155035.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an in-frame exon in the middle portion of the coding region compared to variant 1. This results in a shorter protein (isoform 5) compared to isoform 1.
      Source sequence(s)
      AC026315, AC078793, AC092919, AC137517
      Consensus CDS
      CCDS54678.1
      UniProtKB/Swiss-Prot
      Q9UKE5
      Related
      ENSP00000418378.1, ENST00000488470.5
      Conserved Domains (3) summary
      smart00036
      Location:9871285
      CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2
      smart00220
      Location:25289
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd06637
      Location:18313
      STKc_TNIK; Catalytic domain of the Serine/Threonine Kinase, Traf2- and Nck-Interacting Kinase
    5. NM_001161564.3NP_001155036.1  TRAF2 and NCK-interacting protein kinase isoform 6

      See identical proteins and their annotated locations for NP_001155036.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks two in-frame exons in the middle portion of the coding region compared to variant 1. This results in a shorter protein (isoform 6) compared to isoform 1.
      Source sequence(s)
      AC026315, AC078793, AC092919, AC137517
      Consensus CDS
      CCDS54677.1
      UniProtKB/Swiss-Prot
      Q9UKE5
      Related
      ENSP00000418916.1, ENST00000460047.5
      Conserved Domains (3) summary
      smart00036
      Location:9791277
      CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2
      smart00220
      Location:25289
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd06637
      Location:18313
      STKc_TNIK; Catalytic domain of the Serine/Threonine Kinase, Traf2- and Nck-Interacting Kinase
    6. NM_001161565.3NP_001155037.1  TRAF2 and NCK-interacting protein kinase isoform 7

      See identical proteins and their annotated locations for NP_001155037.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks two in-frame exons in the middle portion of the coding region compared to variant 1. This results in a shorter protein (isoform 7) compared to isoform 1.
      Source sequence(s)
      AC026315, AC078793, AC092919, AC137517
      Consensus CDS
      CCDS54674.1
      UniProtKB/Swiss-Prot
      Q9UKE5
      Related
      ENSP00000345352.6, ENST00000341852.10
      Conserved Domains (3) summary
      smart00036
      Location:9581256
      CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2
      smart00220
      Location:25289
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd06637
      Location:18313
      STKc_TNIK; Catalytic domain of the Serine/Threonine Kinase, Traf2- and Nck-Interacting Kinase
    7. NM_001161566.3NP_001155038.1  TRAF2 and NCK-interacting protein kinase isoform 8

      See identical proteins and their annotated locations for NP_001155038.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) lacks three in-frame exons in the middle portion of the coding region compared to variant 1. This results in a shorter protein (isoform 8) compared to isoform 1.
      Source sequence(s)
      AC026315, AC078793, AC092919, AC137517
      Consensus CDS
      CCDS54673.1
      UniProtKB/Swiss-Prot
      Q9UKE5
      Related
      ENSP00000418156.1, ENST00000475336.5
      Conserved Domains (3) summary
      smart00036
      Location:9501248
      CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2
      smart00220
      Location:25289
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd06637
      Location:18313
      STKc_TNIK; Catalytic domain of the Serine/Threonine Kinase, Traf2- and Nck-Interacting Kinase
    8. NM_015028.4NP_055843.1  TRAF2 and NCK-interacting protein kinase isoform 1

      See identical proteins and their annotated locations for NP_055843.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC026315, AC078793, AC092919, AC137517
      Consensus CDS
      CCDS46956.1
      UniProtKB/Swiss-Prot
      Q9UKE5
      Related
      ENSP00000399511.2, ENST00000436636.7
      Conserved Domains (3) summary
      smart00036
      Location:10421340
      CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2
      smart00220
      Location:25289
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd06637
      Location:18313
      STKc_TNIK; Catalytic domain of the Serine/Threonine Kinase, Traf2- and Nck-Interacting Kinase

    RNA

    1. NR_027767.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) lacks the majority of the middle and 3' regions and contains an alternate 3' terminal exon compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.
      Source sequence(s)
      AK291056, AW296249, BC018093, BG209385
      Related
      ENST00000465393.1

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      171058414..171460408 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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