Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23043
Gene name	TRAF2 and NCK interacting kinase
Gene symbol	TNIK
Synonyms (NCBI Gene)	MRT54
Chromosome	3
Chromosome location	3q26.2-q26.31
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 autos

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SNP ID	Visualize variation	Clinical significance	Consequence
rs886037841	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant

Show/Hide all (25)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017299	hsa-miR-335-5p	Microarray	18185580
MIRT1443606	hsa-miR-3125	CLIP-seq
MIRT1443607	hsa-miR-3148	CLIP-seq
MIRT1443608	hsa-miR-3153	CLIP-seq
MIRT1443609	hsa-miR-3916	CLIP-seq
MIRT1443610	hsa-miR-3978	CLIP-seq
MIRT1443611	hsa-miR-4270	CLIP-seq
MIRT1443612	hsa-miR-4419a	CLIP-seq
MIRT1443613	hsa-miR-4441	CLIP-seq
MIRT1443614	hsa-miR-4510	CLIP-seq
MIRT1443615	hsa-miR-4514	CLIP-seq
MIRT1443616	hsa-miR-4692	CLIP-seq
MIRT1443617	hsa-miR-590-3p	CLIP-seq
MIRT1443618	hsa-miR-658	CLIP-seq
MIRT2132743	hsa-miR-4536	CLIP-seq
MIRT2132744	hsa-miR-4719	CLIP-seq
MIRT2132745	hsa-miR-4796-3p	CLIP-seq
MIRT2132746	hsa-miR-513b	CLIP-seq
MIRT2132747	hsa-miR-548t	CLIP-seq
MIRT2647943	hsa-miR-1237	CLIP-seq
MIRT2647944	hsa-miR-1248	CLIP-seq
MIRT2647945	hsa-miR-4715-3p	CLIP-seq
MIRT2647946	hsa-miR-4768-5p	CLIP-seq
MIRT2647947	hsa-miR-513c	CLIP-seq
MIRT2647948	hsa-miR-514b-5p	CLIP-seq

Show/Hide all (44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	IBA
GO:0000166	Function	Nucleotide binding	IEA
GO:0004672	Function	Protein kinase activity	IDA	22797597
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	10521462, 15342639
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	10521462, 15342639, 17474147, 18930710, 19816403, 20159449, 22904686, 29961565, 31413325, 32707033, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	19816403
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	15342639, 19061864
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IDA	15342639
GO:0005856	Component	Cytoskeleton	IEA
GO:0006468	Process	Protein phosphorylation	IDA	10521462, 15342639
GO:0007010	Process	Cytoskeleton organization	IMP	10521462
GO:0007399	Process	Nervous system development	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016324	Component	Apical plasma membrane	IDA	22797597
GO:0016740	Function	Transferase activity	IEA
GO:0030036	Process	Actin cytoskeleton organization	IDA	15342639
GO:0035556	Process	Intracellular signal transduction	IDA	10521462
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0043408	Process	Regulation of MAPK cascade	IBA
GO:0046328	Process	Regulation of JNK cascade	IEA
GO:0046330	Process	Positive regulation of JNK cascade	IDA	15342639
GO:0046330	Process	Positive regulation of JNK cascade	IMP	10521462
GO:0046777	Process	Protein autophosphorylation	IDA	10521462, 15342639
GO:0048812	Process	Neuron projection morphogenesis	IBA
GO:0048814	Process	Regulation of dendrite morphogenesis	IDA	20159449
GO:0055037	Component	Recycling endosome	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0098793	Component	Presynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099092	Component	Postsynaptic density, intracellular component	IEA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1902533	Process	Positive regulation of intracellular signal transduction	IEA
GO:1903698	Process	Positive regulation of microvillus assembly	IMP	22797597

MIM	HGNC	e!Ensembl
610005	30765	ENSG00000154310

Q9UKE5

Protein name

TRAF2 and NCK-interacting protein kinase (EC 2.7.11.1)

Protein 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 th

PDB

2X7F , 5AX9 , 5CWZ , 5D7A , 6RA5 , 6RA7 , 7XZQ , 7XZR , 8WM0 , 8X88

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00069	Pkinase	25 → 289	Protein kinase domain	Domain
PF00780	CNH	1051 → 1331	CNH domain	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed ubiquitously. Highest levels observed in heart, brain and skeletal muscle. Expressed in normal colonic epithelia and colorectal cancer tissues. {ECO:0000269|PubMed:10521462, ECO:0000269|PubMed:19816403}.

Sequence

MASDSPARSLDEIDLSALRDPAGIFELVELVGNGTYGQVYKGRHVKTGQLAAIKVMDVTG
DEEEEIKQEINMLKKYSHHRNIATYYGAFIKKNPPGMDDQLWLVMEFCGAGSVTDLIKNT
KGNTLKEEWIAYICREILRGLSHLHQHKVIHRDIKGQNVLLTENAEVKLVDFGVSAQLDR
TVGRRNTFIGTPYWMAPEVIACDENPDATYDFKSDLWSLGITAIEMAEGAPPLCDMHPMR
ALFLIPRNPAPRLKSKKWSKKFQSFIESCLVKNHSQRPATEQLMKHPFIRDQPNERQVRI
QLKDHIDRTKKKRGEKDETEYEYSGSEEEEEENDSGEPSSILNLPGESTLRRDFLRLQLA
NKERSEALRRQQLEQQQRENEEHKRQLLAERQKRIEEQKEQRRRLEEQQRREKELRKQQE
REQRRHYEEQMRREEERRRAEHEQEYIRRQLEEEQRQLEILQQQLLHEQALLLEYKRKQL
EEQRQAERLQRQLKQERDYLVSLQHQRQEQRPVEKKPLYHYKEGMSPSEKPAWAKEVEER
SRLNRQSSPAMPHKVANRISDPNLPPRSESFSISGVQPARTPPMLRPVDPQIPHLVAVKS
QGPALTASQSVHEQPTKGLSGFQEALNVTSHRVEMPRQNSDPTSENPPLPTRIEKFDRSS
WLRQEEDIPPKVPQRTTSISPALARKNSPGNGSALGPRLGSQPIRASNPDLRRTEPILES
PLQRTSSGSSSSSSTPSSQPSSQGGSQPGSQAGSSERTRVRANSKSEGSPVLPHEPAKVK
PEESRDITRPSRPASYKKAIDEDLTALAKELRELRIEETNRPMKKVTDYSSSSEESESSE
EEEEDGESETHDGTVAVSDIPRLIPTGAPGSNEQYNVGMVGTHGLETSHADSFSGSISRE
GTLMIRETSGEKKRSGHSDSNGFAGHINLPDLVQQSHSPAGTPTEGLGRVSTHSQEMDSG
TEYGMGSSTKASFTPFVDPRVYQTSPTDEDEEDEESSAAALFTSELLRQEQAKLNEARKI
SVVNVNPTNIRPHSDTPEIRKYKKRFNSEILCAALWGVNLLVGTENGLMLLDRSGQGKVY
NLINRRRFQQMDVLEGLNVLVTISGKKNKLRVYYLSWLRNRILHNDPEVEKKQGWITVGD
LEGCIHYKVVKYERIKFLVIALKNAVEIYAWAPKPYHKFMAFKSFADLQHKPLLVDLTVE
EGQRLKVIFGSHTGFHVIDVDSGNSYDIYIPSHIQGNITPHAIVILPKTDGMEMLVCYED
EGVYVNTYGRITKDVVLQWGEMPTSVAYIHSNQIMGWGEKAIEIRSVETGHLDGVFMHKR
AQRLKFLCERNDKVFFASVRSGGSSQVFFMTLNRNSMMNW

Sequence length

1360

Interactions

View interactions

	Reactome
			Oxidative Stress Induced Senescence

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability, autosomal recessive 54	Pathogenic	rs886037841	RCV000235017

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs192746498, rs1183006011	RCV005902551 RCV005910429
Cervical cancer	Likely benign	rs192746498	RCV005902553
Cholangiocarcinoma	Likely benign	rs1183006011	RCV005910433
Clear cell carcinoma of kidney	Likely benign	rs192746498	RCV005902554
Familial cancer of breast	Likely benign	rs192746498	RCV005902550
Gastric cancer	Likely benign	rs192746498, rs1183006011	RCV005902555 RCV005910431
Lung cancer	Likely benign	rs1183006011	RCV005910434
Lymphoma	Likely benign	rs192746498	RCV005902556
Malignant tumor of esophagus	Likely benign	rs192746498	RCV005902552
Melanoma	Likely benign	rs192746498	RCV005902557
Sarcoma	Likely benign	rs1183006011	RCV005910430
See cases	Uncertain significance	rs948588947	RCV002252885
Thymoma	Likely benign	rs1183006011	RCV005910432
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs200347488	RCV005911086
TNIK-related disorder	Uncertain significance; Likely benign; Benign	rs764331012, rs376964973, rs59293515, rs748021676, rs539895612, rs180780206, rs368677789, rs199741418, rs61736291, rs573971000, rs367602557, rs142911215	RCV003397804 RCV003929135 RCV003906849 RCV003906924 RCV003979356 RCV003939840 RCV003949149 RCV003954655 RCV003959393 RCV003959395 RCV003926250 RCV003978057 RCV003958403 RCV003906093
Uterine corpus endometrial carcinoma	Likely benign	rs1183006011	RCV005910435

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	29186589
Breast Neoplasms	Associate	23496902
Carcinogenesis	Associate	26269113
Cognition Disorders	Associate	29186589
Colorectal Neoplasms	Associate	26499327
Fibrosis	Associate	25337707
Hearing Loss Noise Induced	Associate	29301492
Intellectual Disability	Associate	31382054
Multiple Myeloma	Associate	28467797
Neoplasms	Associate	23496902, 25337707, 26269113, 32810161
Neuroblastoma	Associate	31382054
Osteoporosis	Associate	29301492
Pancreatic Neoplasms	Associate	26269113
Polycystic Ovary Syndrome	Associate	39284759
Prodromal Symptoms	Associate	26499327
Prostatic Neoplasms	Associate	30901730
Schizophrenia	Associate	31382054
Thyroid Neoplasms	Associate	33879700
Triple Negative Breast Neoplasms	Associate	30442712

TNIK (TRAF2 and NCK interacting kinase)