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

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; AllianceGenome:HGNC:30765
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: mouse all
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Genomic context

Location:: 3q26.2-q26.31

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (171058414..171460408, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (173842724..174244711, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (170776203..171178197, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MiR-5590-3p inhibits the proliferation and invasion of ovarian cancer cells through mediating the Wnt/beta-catenin signaling pathway by targeting TNIK.
Title: MiR-5590-3p inhibits the proliferation and invasion of ovarian cancer cells through mediating the Wnt/β-catenin signaling pathway by targeting TNIK.
The influence of TNIK gene polymorphisms on risperidone response in a Chinese Han population.
Title: The influence of TNIK gene polymorphisms on risperidone response in a Chinese Han population.
Methylome-wide association study of first-episode schizophrenia reveals a hypermethylated CpG site in the promoter region of the TNIK susceptibility gene.
Title: Methylome-wide association study of first-episode schizophrenia reveals a hypermethylated CpG site in the promoter region of the TNIK susceptibility gene.
TNIK influence the effects of antipsychotics on Wnt/beta-catenin signaling pathway.
Title: TNIK influence the effects of antipsychotics on Wnt/β-catenin signaling pathway.
Effect of TNIK upregulation on JQ1-resistant human colorectal cancer HCT116 cells.
Title: Effect of TNIK upregulation on JQ1-resistant human colorectal cancer HCT116 cells.
We also show that the TNIK protein isoforms including/excluding exon 15 differently regulate cell spreading in non-neuronal cells and neuritogenesis in primary cortical neurons. Our data suggest a complex regulation between the ubiquitous TDP-43 and the neuron-specific NOVA-1 splicing factors in the brain that may help better understand the pathobiology of both neurodegenerative diseases and schizophrenia.
Title: TDP-43 and NOVA-1 RNA-binding proteins as competitive splicing regulators of the schizophrenia-associated TNIK gene.
Genome-wide association study on the etiology of adolescent idiopathic scoliosis using samples from more than 5 000 patients and 6 000 normal controls showed two genes: LBX1-AS1 on 10q24.32 and TNIK on 3q26.2 highly related to AIS initiation and progression [review]
Title: [The current review and prospects of the genetic study and clinical treatment of adolescent idiopathic scoliosis].
TNIK is required for the tumour-initiating function of colorectal cancer stem cells. Its inhibition is a promising therapeutic approach.
Title: TNIK inhibition abrogates colorectal cancer stemness.
Results indicate that Traf2- and Nck-interacting kinase (TNIK) is involved in the interleukin-6-dependent proliferation of multiple myeloma cells.
Title: Synergistic inhibition effect of TNIK inhibitor KY-05009 and receptor tyrosine kinase inhibitor dovitinib on IL-6-induced proliferation and Wnt signaling pathway in human multiple myeloma cells.
results provide new evidence that TNIK may be involved in the proliferation of multiple myeloma IM-9 cells and in the anti-cancer activity of dovitinib via inhibition of the endogenous Wnt signaling pathway.
Title: Traf2- and Nck-interacting kinase (TNIK) is involved in the anti-cancer mechanism of dovitinib in human multiple myeloma IM-9 cells.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Intellectual disability, autosomal recessive 54 MedGen: C4310755 OMIM: 617028 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-17179 (e-PCR)
- UniSTS:73985

WI-14651 (e-PCR)
- UniSTS:23810

RH80729 (e-PCR)
- UniSTS:87314

D3S4242 (e-PCR)
- UniSTS:30779

D3S1417 (e-PCR)
- UniSTS:148550

SHGC-77539 (e-PCR)
- UniSTS:69717

SHGC-154591 (e-PCR)
- UniSTS:183384

D3S3656 (e-PCR)
- UniSTS:38501

SGC34454 (e-PCR)
- UniSTS:76146

SHGC-155677 (e-PCR)
- UniSTS:185217

D3S4130 (e-PCR)
- UniSTS:12434

G32574 (e-PCR)
- UniSTS:117157

SHGC-77540 (e-PCR)
- UniSTS:53678

SHGC-82608 (e-PCR)
- UniSTS:100808

RH79966 (e-PCR)
- UniSTS:85961

A009J09 (e-PCR)
- UniSTS:32974

SHGC-155755 (e-PCR)
- UniSTS:183758

STS-H66149 (e-PCR)
- UniSTS:5589

SHGC-77532 (e-PCR)
- UniSTS:59096

STS-AA017243 (e-PCR)
- UniSTS:78048

SHGC-77531 (e-PCR)
- UniSTS:44518

BQ207408 (e-PCR)
- UniSTS:261611

SHGC-77530 (e-PCR)
- UniSTS:3061

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein serine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in MAPK cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in actin cytoskeleton organization	IDA Inferred from Direct Assay more info	PubMed
involved_in cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in microvillus assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron projection morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of JNK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of JNK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein autophosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein phosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of MAPK cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of dendrite morphogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in response to organonitrogen compound	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in extracellular exosome	HDA more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in postsynaptic density, intracellular component	IEA Inferred from Electronic Annotation more info
located_in presynapse	IEA Inferred from Electronic Annotation more info
located_in recycling endosome	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: TRAF2 and NCK-interacting protein kinase

NP_001155032.1

EC 2.7.11.1

NP_001155033.1

EC 2.7.11.1

NP_001155034.1

EC 2.7.11.1

NP_001155035.1

EC 2.7.11.1

NP_001155036.1

EC 2.7.11.1

NP_001155037.1

EC 2.7.11.1

NP_001155038.1

EC 2.7.11.1

NP_055843.1

EC 2.7.11.1

NCBI Reference Sequences (RefSeq)

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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

NG_054934.2 RefSeqGene

Range

5003..406994

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001161560.3 → NP_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 (2) summary

smart00036
Location:1034 → 1332

CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2

cd06637
Location:18 → 313

STKc_TNIK; Catalytic domain of the Serine/Threonine Kinase, Traf2- and Nck-Interacting Kinase
NM_001161561.3 → NP_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 (2) summary

smart00036
Location:1013 → 1311

CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2

cd06637
Location:18 → 313

STKc_TNIK; Catalytic domain of the Serine/Threonine Kinase, Traf2- and Nck-Interacting Kinase
NM_001161562.3 → NP_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 (2) summary

smart00036
Location:1005 → 1303

CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2

cd06637
Location:18 → 313

STKc_TNIK; Catalytic domain of the Serine/Threonine Kinase, Traf2- and Nck-Interacting Kinase
NM_001161563.3 → NP_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:987 → 1285

CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2

smart00220
Location:25 → 289

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd06637
Location:18 → 313

STKc_TNIK; Catalytic domain of the Serine/Threonine Kinase, Traf2- and Nck-Interacting Kinase
NM_001161564.3 → NP_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:979 → 1277

CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2

smart00220
Location:25 → 289

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd06637
Location:18 → 313

STKc_TNIK; Catalytic domain of the Serine/Threonine Kinase, Traf2- and Nck-Interacting Kinase
NM_001161565.3 → NP_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:958 → 1256

CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2

smart00220
Location:25 → 289

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd06637
Location:18 → 313

STKc_TNIK; Catalytic domain of the Serine/Threonine Kinase, Traf2- and Nck-Interacting Kinase
NM_001161566.3 → NP_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:950 → 1248

CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2

smart00220
Location:25 → 289

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd06637
Location:18 → 313

STKc_TNIK; Catalytic domain of the Serine/Threonine Kinase, Traf2- and Nck-Interacting Kinase
NM_015028.4 → NP_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

A7E2A3, A8K4U1, D3DNQ6, O60298, Q8WUY7, Q9UKD8, Q9UKD9, Q9UKE0, Q9UKE1, Q9UKE2, Q9UKE3, Q9UKE4, Q9UKE5

Related

ENSP00000399511.2, ENST00000436636.7

Conserved Domains (2) summary

smart00036
Location:1042 → 1340

CNH; Domain found in NIK1-like kinases, mouse citron and yeast ROM1, ROM2

cd06637
Location:18 → 313

STKc_TNIK; Catalytic domain of the Serine/Threonine Kinase, Traf2- and Nck-Interacting Kinase