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

Gene ID: 23043, updated on 13-Feb-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_001161560.2NP_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, AF172267, AK291056, BC150256, BG258005
    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_001161561.2NP_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, AF172265, AK291056, BC150256, BG258005
    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_001161562.2NP_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, AF172269, AK291056, BC150256, BG258005
    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_001161563.2NP_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, AF172266, AK291056, BC150256, BG258005
    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_001161564.2NP_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, AF172269, AF172270, AK291056, BC150256, BG258005
    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_001161565.2NP_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, AK291056, BC150256, BG258005
    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_001161566.2NP_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, AF172269, AF172271, AK291056, BC150256, BG258005
    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, ENST00000436636.6
    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.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

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