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	7143
Gene name	Tenascin R
Gene symbol	TNR
Synonyms (NCBI Gene)	NEDSTOTN-R
Chromosome	1
Chromosome location	1q25.1
Summary	This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The encoded protein is restricted to the central nervous system. The protein may play a role in neurite outgrowth, neural cell adhesion and modulation of sodium chann

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs750577544	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs892080402	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1287757170	G>A	Pathogenic	Stop gained, coding sequence variant
rs1389178206	G>C,T	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1571339601	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571360953	A>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (58)

miRTarBase ID	miRNA	Experiments	Reference
MIRT652313	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT652314	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT625956	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT625955	hsa-miR-4455	HITS-CLIP	23824327
MIRT625954	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT621728	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT621727	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT621726	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT621725	hsa-miR-6830-3p	HITS-CLIP	23824327
MIRT621724	hsa-miR-145-5p	HITS-CLIP	23824327
MIRT621723	hsa-miR-5195-3p	HITS-CLIP	23824327
MIRT625954	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT625954	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT652313	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT652314	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT625956	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT625955	hsa-miR-4455	HITS-CLIP	23824327
MIRT625954	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT621728	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT621727	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT621726	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT621725	hsa-miR-6830-3p	HITS-CLIP	23824327
MIRT621724	hsa-miR-145-5p	HITS-CLIP	23824327
MIRT621723	hsa-miR-5195-3p	HITS-CLIP	23824327
MIRT1444556	hsa-miR-1285	CLIP-seq
MIRT1444557	hsa-miR-2467-5p	CLIP-seq
MIRT1444558	hsa-miR-3153	CLIP-seq
MIRT1444559	hsa-miR-3173-3p	CLIP-seq
MIRT1444560	hsa-miR-3187-5p	CLIP-seq
MIRT1444561	hsa-miR-3188	CLIP-seq
MIRT1444562	hsa-miR-3189-3p	CLIP-seq
MIRT1444563	hsa-miR-326	CLIP-seq
MIRT1444564	hsa-miR-330-5p	CLIP-seq
MIRT1444565	hsa-miR-3689d	CLIP-seq
MIRT1444566	hsa-miR-378g	CLIP-seq
MIRT1444567	hsa-miR-3975	CLIP-seq
MIRT1444568	hsa-miR-4279	CLIP-seq
MIRT1444569	hsa-miR-4486	CLIP-seq
MIRT1444570	hsa-miR-4640-5p	CLIP-seq
MIRT1444571	hsa-miR-4649-3p	CLIP-seq
MIRT1444572	hsa-miR-4663	CLIP-seq
MIRT1444573	hsa-miR-4668-5p	CLIP-seq
MIRT1444574	hsa-miR-4726-5p	CLIP-seq
MIRT1444575	hsa-miR-4768-5p	CLIP-seq
MIRT1444576	hsa-miR-485-5p	CLIP-seq
MIRT1444577	hsa-miR-541	CLIP-seq
MIRT1444578	hsa-miR-612	CLIP-seq
MIRT1444579	hsa-miR-628-5p	CLIP-seq
MIRT1444580	hsa-miR-654-5p	CLIP-seq
MIRT2133044	hsa-miR-4517	CLIP-seq
MIRT2133045	hsa-miR-4781-3p	CLIP-seq
MIRT2133046	hsa-miR-889	CLIP-seq
MIRT2354092	hsa-miR-3155	CLIP-seq
MIRT2354093	hsa-miR-3155b	CLIP-seq
MIRT2354094	hsa-miR-4436b-3p	CLIP-seq
MIRT2354095	hsa-miR-4685-5p	CLIP-seq
MIRT2354096	hsa-miR-484	CLIP-seq
MIRT2354097	hsa-miR-922	CLIP-seq

Show/Hide all (44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	NAS	8940128
GO:0007158	Process	Neuron cell-cell adhesion	IEA
GO:0007399	Process	Nervous system development	IBA
GO:0007411	Process	Axon guidance	NAS	8940128
GO:0008306	Process	Associative learning	IEA
GO:0009986	Component	Cell surface	IEA
GO:0010977	Process	Negative regulation of neuron projection development	IEA
GO:0010977	Process	Negative regulation of neuron projection development	ISO
GO:0022029	Process	Telencephalon cell migration	IEA
GO:0022408	Process	Negative regulation of cell-cell adhesion	IEA
GO:0030155	Process	Regulation of cell adhesion	IEA
GO:0030155	Process	Regulation of cell adhesion	ISO
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030334	Process	Regulation of cell migration	IEA
GO:0030334	Process	Regulation of cell migration	ISO
GO:0030517	Process	Negative regulation of axon extension	IEA
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IEA
GO:0035249	Process	Synaptic transmission, glutamatergic	IEA
GO:0035641	Process	Locomotory exploration behavior	IEA
GO:0045121	Component	Membrane raft	IEA
GO:0045595	Process	Regulation of cell differentiation	IEA
GO:0045595	Process	Regulation of cell differentiation	ISO
GO:0048675	Process	Axon extension	IEA
GO:0048677	Process	Axon extension involved in regeneration	IEA
GO:0048692	Process	Negative regulation of axon extension involved in regeneration	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0050805	Process	Negative regulation of synaptic transmission	IEA
GO:0050808	Process	Synapse organization	IEA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	IEA
GO:0051971	Process	Positive regulation of transmission of nerve impulse	IEA
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0072534	Component	Perineuronal net	IEA
GO:0072534	Component	Perineuronal net	ISO
GO:0090733	Component	Tenascin complex	IEA
GO:0090733	Component	Tenascin complex	ISO
GO:0097402	Process	Neuroblast migration	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA

MIM	HGNC	e!Ensembl
601995	11953	ENSG00000116147

Q92752

Protein name

Tenascin-R (TN-R) (Janusin) (Restrictin)

Protein function

Neural extracellular matrix (ECM) protein involved in interactions with different cells and matrix components. These interactions can influence cellular behavior by either evoking a stable adhesion and differentiation, or repulsion and inhibitio

PDB

8FN9 , 8FNA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18720	EGF_Tenascin	203 → 231	Tenascin EGF domain	Domain
PF18720	EGF_Tenascin	234 → 262	Tenascin EGF domain	Domain
PF07974	EGF_2	297 → 323	EGF-like domain	Domain
PF00041	fn3	327 → 404	Fibronectin type III domain	Domain
PF00041	fn3	416 → 496	Fibronectin type III domain	Domain
PF00041	fn3	505 → 585	Fibronectin type III domain	Domain
PF00041	fn3	595 → 677	Fibronectin type III domain	Domain
PF00041	fn3	687 → 766	Fibronectin type III domain	Domain
PF00041	fn3	775 → 855	Fibronectin type III domain	Domain
PF00041	fn3	865 → 944	Fibronectin type III domain	Domain
PF00041	fn3	954 → 1033	Fibronectin type III domain	Domain
PF00041	fn3	1042 → 1121	Fibronectin type III domain	Domain
PF00147	Fibrinogen_C	1134 → 1343	Fibrinogen beta and gamma chains, C-terminal globular domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Brain specific. {ECO:0000269|PubMed:8626505}.

Sequence

MGADGETVVLKNMLIGINLILLGSMIKPSECQLEVTTERVQRQSVEEEGGIANYNTSSKE
QPVVFNHVYNINVPLDNLCSSGLEASAEQEVSAEDETLAEYMGQTSDHESQVTFTHRINF
PKKACPCASSAQVLQELLSRIEMLEREVSVLRDQCNANCCQESAATGQLDYIPHCSGHGN
FSFESCGCICNEGWFGKNCSEPYCPLGCSSRGVCVDGQCICDSEYSGDDCSELRCPTDCS
SRGLCVDGECVCEEPYTGEDCRELRCPGDCSGKGRCANGTCLCEEGYVGEDCGQRQCLNA
CSGRGQCEEGLCVCEEGYQGPDCSAVAPPEDLRVAGISDRSIELEWDGPMAVTEYVISYQ
PTALGGLQLQQRVPGDWSGVTITELEPGLTYNISVYAVISNILSLPITAKVATHLSTPQG
LQFKTITETTVEVQWEPFSFSFDGWEISFIPKNNEGGVIAQVPSDVTSFNQTGLKPGEEY
IVNVVALKEQARSPPTSASVSTVIDGPTQILVRDVSDTVAFVEWIPPRAKVDFILLKYGL
VGGEGGRTTFRLQPPLSQYSVQALRPGSRYEVSVSAVRGTNESDSATTQFTTEIDAPKNL
RVGSRTATSLDLEWDNSEAEVQEYKVVYSTLAGEQYHEVLVPRGIGPTTRATLTDLVPGT
EYGVGISAVMNSQQSVPATMNARTELDSPRDLMVTASSETSISLIWTKASGPIDHYRITF
TPSSGIASEVTVPKDRTSYTLTDLEPGAEYIISVTAERGRQQSLESTVDAFTGFRPISHL
HFSHVTSSSVNITWSDPSPPADRLILNYSPRDEEEEMMEVSLDATKRHAVLMGLQPATEY
IVNLVAVHGTVTSEPIVGSITTGIDPPKDITISNVTKDSVMVSWSPPVASFDYYRVSYRP
TQVGRLDSSVVPNTVTEFTITRLNPATEYEISLNSVRGREESERICTLVHTAMDNPVDLI
ATNITPTEALLQWKAPVGEVENYVIVLTHFAVAGETILVDGVSEEFRLVDLLPSTHYTAT
MYATNGPLTSGTISTNFSTLLDPPANLTASEVTRQSALISWQPPRAEIENYVLTYKSTDG
SRKELIVDAEDTWIRLEGLLENTDYTVLLQAAQDTTWSSITSTAFTTGGRVFPHPQDCAQ
HLMNGDTLSGVYPIFLNGELSQKLQVYCDMTTDGGGWIVFQRRQNGQTDFFRKWADYRVG
FGNVEDEFWLGLDNIHRITSQGRYELRVDMRDGQEAAFASYDRFSVEDSRNLYKLRIGSY
NGTAGDSLSYHQGRPFSTEDRDNDVAVTNCAMSYKGAWWYKNCHRTNLNGKYGESRHSQG
INWYHWKGHEFSIPFVEMKMRPYNHRLMAGRKRQSLQF

Sequence length

1358

Interactions

View interactions

	KEGG		Reactome
	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction Human papillomavirus infection MicroRNAs in cancer		ECM proteoglycans

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Gastric cancer	Likely pathogenic	rs1245352495	RCV005930373
Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus	Pathogenic; Likely pathogenic	rs2102034857, rs199853947, rs2102011470, rs1571308125, rs1571339601, rs1287757170, rs1571360953, rs892080402, rs750577544, rs1389178206	RCV001796949 RCV002246777 RCV002246778 RCV001796799 RCV001796798 RCV001796797 RCV001849450 RCV001849453 RCV001849454 RCV001849451
Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus	Pathogenic; Likely pathogenic	rs1571308125, rs1571339601, rs1287757170, rs1571360953, rs892080402, rs750577544, rs1389178206	RCV000853187 RCV000853186 RCV000853185 RCV000853188 RCV000853191 RCV000853192 RCV000853189

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Parkinson disease	Conflicting classifications of pathogenicity; Uncertain significance	rs140481433, rs869312899, rs61731112, rs147204644, rs150331590	RCV000210438 RCV000210441 RCV000210446 RCV000210437 RCV000210442
TNR-related disorder	Uncertain significance; Likely benign	rs139871740, rs76938240, rs370406157	RCV004758925 RCV003957195 RCV003967201

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Attention Deficit Disorder with Hyperactivity	Associate	30563984
Brain Injuries	Stimulate	30980710
Brain Injuries Traumatic	Associate	30980710
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Associate	22730557
Choroidal Neovascularization	Associate	29346644
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	36066723
Developmental Disabilities	Associate	32099069
Dysequilibrium syndrome	Associate	32099069
Encephalopathy Spastic Tetraparesis and Hypogonadism	Associate	32099069
Endometrial Neoplasms	Stimulate	25231141
Frontotemporal Dementia	Associate	32576262
Glioma	Associate	32987560
Intellectual Disability	Associate	22730557
Muscle Hypotonia	Associate	32099069
Muscle Spasticity	Associate	32099069
Myeloproliferative Syndrome Transient	Associate	32099069
Parkinson Disease	Associate	26595808, 33818904

TNR (tenascin R)