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Aliases for TNIK Gene

Aliases for TNIK Gene

  • TRAF2 And NCK Interacting Kinase 2 3 5
  • EC 2.7.11.1 4 56
  • TRAF2 And NCK-Interacting Protein Kinase 3
  • EC 2.7.11 56
  • KIAA0551 4
  • MRT54 3

External Ids for TNIK Gene

Previous GeneCards Identifiers for TNIK Gene

  • GC03M172102
  • GC03M172262
  • GC03M170779
  • GC03M168150

Summaries for TNIK Gene

Entrez Gene Summary for TNIK Gene

  • 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]

GeneCards Summary for TNIK Gene

TNIK (TRAF2 And NCK Interacting Kinase) is a Protein Coding gene. Diseases associated with TNIK include Mental Retardation, Autosomal Recessive 54 and Autosomal Recessive Non-Syndromic Intellectual Disability. Among its related pathways are Cellular Senescence (REACTOME) and TNF signaling (REACTOME). Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is MAP4K4.

UniProtKB/Swiss-Prot for TNIK Gene

  • Serine/threonine kinase that acts as an essential activator of the Wnt signaling pathway. Recruited to promoters of Wnt target genes and required to activate their expression. May act by phosphorylating TCF4/TCF7L2. Appears to act upstream of the JUN N-terminal pathway. May play a role in the response to environmental stress. Part of a signaling complex composed of NEDD4, RAP2A and TNIK which regulates neuronal dendrite extension and arborization during development. More generally, it may play a role in cytoskeletal rearrangements and regulate cell spreading. Phosphorylates SMAD1 on Thr-322.

Gene Wiki entry for TNIK Gene

Additional gene information for TNIK Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TNIK Gene

Genomics for TNIK Gene

GeneHancer (GH) Regulatory Elements for TNIK Gene

Promoters and enhancers for TNIK Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I171456 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 563.4 +0.8 774 6 HDGF PKNOX1 SIN3A FEZF1 ZNF2 IRF4 YY1 POLR2B ZNF766 E2F8 TNIK ENSG00000279673 LOC102724479 SLC2A2 ENSG00000222506
GH03I171021 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 10.9 +434.8 434849 8.9 HDAC1 ELF3 PKNOX1 FOXA2 RAD21 YY1 MIXL1 RXRA NFYC MXD4 SLC2A2 MIR569 TNIK RPL22L1 GC03M171011 RNU1-70P
GH03I171351 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.9 +106.5 106486 5.2 ZSCAN4 INSM2 MZF1 FEZF1 YY1 ZNF213 ZNF366 FOS REST TSHZ1 TNIK ENSG00000222506 MIR569
GH03I171804 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.4 -348.3 -348279 9.3 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 SP3 MEF2D SSRP1 ZNF610 PLD1 FNDC3B TMEM212 RPL22L1 ECT2 TNIK ENSG00000234594
GH03I171165 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 9.3 +291.3 291333 7.9 FOXA2 RAD21 ZNF143 FOS RXRA ZNF217 SSRP1 RCOR2 CEBPA KDM1A SLC2A2 TNIK MIR569 ENSG00000222506
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TNIK on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TNIK gene promoter:

Genomic Locations for TNIK Gene

Genomic Locations for TNIK Gene
chr3:171,061,339-171,460,408
(GRCh38/hg38)
Size:
399,070 bases
Orientation:
Minus strand
chr3:170,779,128-171,178,197
(GRCh37/hg19)

Genomic View for TNIK Gene

Genes around TNIK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TNIK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TNIK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TNIK Gene

Proteins for TNIK Gene

  • Protein details for TNIK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKE5-TNIK_HUMAN
    Recommended name:
    TRAF2 and NCK-interacting protein kinase
    Protein Accession:
    Q9UKE5
    Secondary Accessions:
    • A7E2A3
    • A8K4U1
    • D3DNQ6
    • O60298
    • Q8WUY7
    • Q9UKD8
    • Q9UKD9
    • Q9UKE0
    • Q9UKE1
    • Q9UKE2
    • Q9UKE3
    • Q9UKE4

    Protein attributes for TNIK Gene

    Size:
    1360 amino acids
    Molecular mass:
    154943 Da
    Quaternary structure:
    • Interacts (via the CNH domain) with RAP2A (GTP-bound form preferentially); the interaction is direct and required for the activation of TNIK by RAP2A. Interacts with NEDD4; recruits RAP2A to NEDD4. Interacts with TRAF2 and NCK. Interacts with TCF7L2/TCF4 and CTNNB1; the interaction is direct. Interacts with TANC1.
    SequenceCaution:
    • Sequence=BAA25477.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TNIK Gene

    Alternative splice isoforms for TNIK Gene

neXtProt entry for TNIK Gene

Selected DME Specific Peptides for TNIK Gene

Q9UKE5:
  • FIGTPYWMAPEV
  • PFIRDQP
  • EGVYVNTYGR
  • VVLQWGEMP
  • TGHLDGVFMHK
  • VIHRDIKGQNVLLT
  • SVVNVNPTN
  • MEFCGAGS
  • EILCAALWGVNLL
  • LRDPAGIFEL
  • RNDKVFF
  • VGNGTYGQVYKGRHVKTGQLAAIKVMDVT
  • ILHNDPEVEKKQGW
  • PRLKSKKWSKKF
  • ERQVRIQLKDHIDR
  • SSEESESS
  • GITAIEMAEGAPPLC
  • RVYYLSWLR
  • GLMLLDRSGQGKVY
  • ETEYEYSGSEEE
  • YAWAPKPYHKFM
  • WMAPEVI
  • VKLVDFGVSAQL
  • RRRFQQMDVLEGLN
  • ATYYGAFIKK
  • GTPYWMAPE
  • DQLWLVMEFCG
  • KAIEIRSV
  • YERIKFLV
  • PEIRKYKK
  • DYSSSSEE

Post-translational modifications for TNIK Gene

  • Autophosphorylated. Autophosphorylation is activated by RAP2A and induces association to the cytoskeletal fraction.

Domains & Families for TNIK Gene

Gene Families for TNIK Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for TNIK Gene

Graphical View of Domain Structure for InterPro Entry

Q9UKE5

UniProtKB/Swiss-Prot:

TNIK_HUMAN :
  • Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily.
Family:
  • Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily.
genes like me logo Genes that share domains with TNIK: view

Function for TNIK Gene

Molecular function for TNIK Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot Function:
Serine/threonine kinase that acts as an essential activator of the Wnt signaling pathway. Recruited to promoters of Wnt target genes and required to activate their expression. May act by phosphorylating TCF4/TCF7L2. Appears to act upstream of the JUN N-terminal pathway. May play a role in the response to environmental stress. Part of a signaling complex composed of NEDD4, RAP2A and TNIK which regulates neuronal dendrite extension and arborization during development. More generally, it may play a role in cytoskeletal rearrangements and regulate cell spreading. Phosphorylates SMAD1 on Thr-322.

Enzyme Numbers (IUBMB) for TNIK Gene

Phenotypes From GWAS Catalog for TNIK Gene

Gene Ontology (GO) - Molecular Function for TNIK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IDA,IEA 22797597
GO:0004674 protein serine/threonine kinase activity IEA,IDA 10521462
GO:0005515 protein binding IPI 10521462
GO:0005524 ATP binding IEA --
GO:0008349 MAP kinase kinase kinase kinase activity IBA --
genes like me logo Genes that share ontologies with TNIK: view
genes like me logo Genes that share phenotypes with TNIK: view

Human Phenotype Ontology for TNIK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TNIK Gene

MGI Knock Outs for TNIK:

miRNA for TNIK Gene

miRTarBase miRNAs that target TNIK

Clone Products

  • Addgene plasmids for TNIK

No data available for Transcription Factor Targets and HOMER Transcription for TNIK Gene

Localization for TNIK Gene

Subcellular locations from UniProtKB/Swiss-Prot for TNIK Gene

Nucleus. Cytoplasm. Recycling endosome. Cytoplasm, cytoskeleton. Note=Associated with recycling endosomes and the cytoskeletal fraction upon RAP2A overexpression.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TNIK gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
endosome 5
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TNIK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 19816403
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 15342639
GO:0005768 endosome IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with TNIK: view

Pathways & Interactions for TNIK Gene

genes like me logo Genes that share pathways with TNIK: view

SIGNOR curated interactions for TNIK Gene

Activates:

Gene Ontology (GO) - Biological Process for TNIK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000185 activation of MAPKKK activity IEA --
GO:0001934 positive regulation of protein phosphorylation IMP 22797597
GO:0006468 protein phosphorylation IDA,IEA 10521462
GO:0007010 cytoskeleton organization IMP 10521462
GO:0007256 activation of JNKK activity IMP 10521462
genes like me logo Genes that share ontologies with TNIK: view

Drugs & Compounds for TNIK Gene

(1) Drugs for TNIK Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ATP Investigational Nutra Agonist 0

(1) Additional Compounds for TNIK Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with TNIK: view

Transcripts for TNIK Gene

Unigene Clusters for TNIK Gene

TRAF2 and NCK interacting kinase:
Representative Sequences:

Clone Products

  • Addgene plasmids for TNIK

Alternative Splicing Database (ASD) splice patterns (SP) for TNIK Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24 ^
SP1: - -
SP2: - - -
SP3: - - -
SP4: - - - -
SP5:
SP6:
SP7:

ExUns: 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32 ^ 33a · 33b
SP1: - -
SP2: - -
SP3: - -
SP4: - -
SP5: - -
SP6:
SP7:

Relevant External Links for TNIK Gene

GeneLoc Exon Structure for
TNIK
ECgene alternative splicing isoforms for
TNIK

Expression for TNIK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TNIK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TNIK Gene

This gene is overexpressed in Lung (20.9), Platelet (8.4), and Peripheral blood mononuclear cells (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TNIK Gene



Protein tissue co-expression partners for TNIK Gene

NURSA nuclear receptor signaling pathways regulating expression of TNIK Gene:

TNIK

SOURCE GeneReport for Unigene cluster for TNIK Gene:

Hs.34024

mRNA Expression by UniProt/SwissProt for TNIK Gene:

Q9UKE5-TNIK_HUMAN
Tissue specificity: Expressed ubiquitously. Highest levels observed in heart, brain and skeletal muscle. Expressed in normal colonic epithelia and colorectal cancer tissues.

Evidence on tissue expression from TISSUES for TNIK Gene

  • Nervous system(4.7)
  • Blood(4.3)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with TNIK: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TNIK Gene

Orthologs for TNIK Gene

This gene was present in the common ancestor of animals.

Orthologs for TNIK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TNIK 33 34
  • 99.73 (n)
cow
(Bos Taurus)
Mammalia TNIK 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TNIK 34
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TNIK 34
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tnik 33 16 34
  • 91.05 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TNIK 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves TNIK 33 34
  • 83.73 (n)
lizard
(Anolis carolinensis)
Reptilia TNIK 34
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tnik 33
  • 79.02 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.31412 33
zebrafish
(Danio rerio)
Actinopterygii tnikb 34
  • 79 (a)
OneToMany
tnika 33 34
  • 72.85 (n)
wufc52d11 33
fruit fly
(Drosophila melanogaster)
Insecta msn 34
  • 42 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mig-15 34
  • 51 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3520 34
  • 47 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7227 33
Species where no ortholog for TNIK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TNIK Gene

ENSEMBL:
Gene Tree for TNIK (if available)
TreeFam:
Gene Tree for TNIK (if available)

Paralogs for TNIK Gene

Variants for TNIK Gene

Sequence variations from dbSNP and Humsavar for TNIK Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs886037841 pathogenic, Mental retardation, autosomal recessive 54 171,188,803(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, stop_gained
rs141160238 likely-benign, not provided 171,194,514(-) T/A/C/G genic_downstream_transcript_variant, intron_variant
rs76246285 likely-benign, not provided 171,228,239(-) T/C genic_downstream_transcript_variant, intron_variant
rs1057520155 uncertain-significance, not provided 171,066,728(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1000001564 -- 171,363,776(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TNIK Gene

Variant ID Type Subtype PubMed ID
nsv822341 CNV loss 20364138
nsv7356 OTHER inversion 18451855
nsv592508 CNV loss 21841781
nsv476509 CNV novel sequence insertion 20440878
nsv460988 CNV loss 19166990
nsv4115 CNV insertion 18451855
esv8581 CNV gain 19470904
esv3598647 CNV loss 21293372
esv3569115 CNV loss 25503493
esv3562903 CNV deletion 23714750
esv3385448 CNV duplication 20981092
esv2726200 CNV deletion 23290073
esv2726199 CNV deletion 23290073
esv2726198 CNV deletion 23290073
esv2726197 CNV deletion 23290073
esv2678853 CNV deletion 23128226
esv1491587 CNV deletion 17803354
esv1002266 CNV deletion 20482838

Variation tolerance for TNIK Gene

Residual Variation Intolerance Score: 2.87% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.45; 54.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TNIK Gene

Human Gene Mutation Database (HGMD)
TNIK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TNIK

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TNIK Gene

Disorders for TNIK Gene

MalaCards: The human disease database

(2) MalaCards diseases for TNIK Gene - From: HGMD, OMIM, ClinVar, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal recessive 54
  • mrt54
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
- elite association - COSMIC cancer census association via MalaCards
Search TNIK in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TNIK_HUMAN
  • Mental retardation, autosomal recessive 54 (MRT54) [MIM:617028]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT54 patients manifest intellectual disability, delayed speech and hyperactivity. {ECO:0000269 PubMed:27106596}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TNIK

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TNIK: view

No data available for Genatlas for TNIK Gene

Publications for TNIK Gene

  1. TNIK, a novel member of the germinal center kinase family that activates the c-Jun N-terminal kinase pathway and regulates the cytoskeleton. (PMID: 10521462) Fu CA … Luo Y (The Journal of biological chemistry 1999) 2 3 4 22 58
  2. Rap2 function requires palmitoylation and recycling endosome localization. (PMID: 19061864) Uechi Y … Kariya K (Biochemical and biophysical research communications 2009) 3 4 22 58
  3. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9628581) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 58
  4. A null mutation in TNIK defines a novel locus for intellectual disability. (PMID: 27106596) Anazi S … Alkuraya FS (Human genetics 2016) 3 4 58
  5. Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. (PMID: 21347282) Lettre G … Boerwinkle E (PLoS genetics 2011) 3 44 58

Products for TNIK Gene

Sources for TNIK Gene

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