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This gene encodes an extracellular matrix protein with a spatially and temporally restricted tissue distribution. This protein is homohexameric with disulfide-linked subunits, and contains multiple EGF-like and fibronectin type-III domains. It is implicated in guidance of migrating neurons as well as axons during development, synaptic plasticity, and neuronal regeneration. [provided by RefSeq, Jul 2011]
TNC (Tenascin C) is a Protein Coding gene. Diseases associated with TNC include Deafness, Autosomal Dominant 56 and Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna. Among its related pathways are Neuroscience and Integrin Pathway. Gene Ontology (GO) annotations related to this gene include syndecan binding. An important paralog of this gene is TNR.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005201 | extracellular matrix structural constituent | RCA | 20551380 |
GO:0005515 | protein binding | IEA,IPI | 20979576 |
GO:0045545 | syndecan binding | IDA | 8769660 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | HDA,TAS | -- |
GO:0005604 | basement membrane | IEA | -- |
GO:0005614 | interstitial matrix | IEA | -- |
GO:0005615 | extracellular space | HDA | 16502470 |
GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Integrin Pathway |
FAK1 Signaling
.67
Integrin Pathway
.67
GnRH Signaling
.56
|
UPA-UPAR Pathway
.56
Inhibition of Angiogenesis by TSP1
.50
Transendothelial Migration of Leukocytes
.38
|
2 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
3 | ECM-receptor interaction | ||
4 | Focal Adhesion |
.61
|
.61
|
5 | PI3K-Akt signaling pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001649 | osteoblast differentiation | HDA | 16210410 |
GO:0007155 | cell adhesion | IEA | -- |
GO:0007162 | negative regulation of cell adhesion | IEA | -- |
GO:0007528 | neuromuscular junction development | IEA | -- |
GO:0008284 | positive regulation of cell proliferation | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
NEURADIAB | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | - | - | - |
ExUns: | 18c | ^ | 19a | · | 19b | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||
SP9: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TNC 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TNC 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TNC 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tnc 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tnc 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | TNC 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TNC 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TNC 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TNC 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tnc 30 |
|
||
Str.15574 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.24480 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tnc 31 |
|
OneToMany | |
LOC100149028 30 |
|
||||
CABZ01048373.1 31 |
|
OneToMany | |||
tenc 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.4969 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG5550 32 |
|
|
|
CG1791 32 |
|
|
|||
CG30280 32 |
|
|
|||
CG30281 32 |
|
|
|||
BG:DS00180.10 32 |
|
|
|||
BG:DS00180.14 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
637026 | Uncertain Significance: Deafness, autosomal dominant 56 | 115,023,974(-) | T/C | MISSENSE_VARIANT | |
689600 | Likely Benign: Deafness, autosomal dominant 56 | 115,081,836(-) | C/A | MISSENSE_VARIANT | |
709861 | Benign: not provided | 115,063,845(-) | C/T | SYNONYMOUS_VARIANT | |
716393 | Benign: not provided | 115,064,848(-) | C/T | MISSENSE_VARIANT | |
719962 | Likely Benign: not provided | 115,090,931(-) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4130n106 | CNV | deletion | 24896259 |
esv1008522 | CNV | deletion | 20482838 |
esv1713245 | CNV | deletion | 17803354 |
esv21967 | CNV | gain | 19812545 |
esv2422541 | CNV | deletion | 19546169 |
esv2738965 | CNV | deletion | 23290073 |
esv2738966 | CNV | deletion | 23290073 |
esv2738967 | CNV | deletion | 23290073 |
esv3545358 | CNV | deletion | 23714750 |
esv3825 | CNV | loss | 18987735 |
nsv1076200 | CNV | deletion | 25765185 |
nsv1121699 | CNV | deletion | 24896259 |
nsv1144289 | CNV | deletion | 24896259 |
nsv1152680 | CNV | deletion | 26484159 |
nsv519131 | CNV | loss | 19592680 |
nsv615250 | CNV | loss | 21841781 |
nsv7434 | OTHER | inversion | 18451855 |
nsv831696 | CNV | gain | 17160897 |
nsv831697 | CNV | loss | 17160897 |
nsv957714 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
deafness, autosomal dominant 56 |
|
|
autosomal dominant non-syndromic sensorineural deafness type dfna |
|
|
bullous keratopathy |
|
|
acute myocarditis |
|
|
juvenile pilocytic astrocytoma |
|