TNC (tenascin C)

Gene

• Entrez ID: 3371
• Gene name: Tenascin C
• Gene symbol: TNC
• Synonyms (NCBI Gene): 150-225, DFNA56, GMEM, GP, HXB, JI, TN, TN-C
• Chromosome: 9
• Chromosome location: 9q33.1
• Summary: 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 implicat

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137933052	C>T	Pathogenic	Coding sequence variant, missense variant
rs431905513	T>A	Pathogenic	Missense variant, coding sequence variant
rs1057519148	T>C	Likely-pathogenic	Coding sequence variant, intron variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000666	hsa-miR-335-5p	Review	19935707
MIRT000666	hsa-miR-335-5p	Immunohistochemistry, Luciferase reporter assay, Microarray	18185580
MIRT000666	hsa-miR-335-5p	Microarray;Other	18185580
MIRT000666	hsa-miR-335-5p	qRT-PCR	23806264
0	hsa-miR-191-5p	Immunoprecipitation, In situ hybridization, Luciferase assay, Microarray, Northern blot, QRTPCR, Western blot	23505378
MIRT732962	hsa-miR-137	ELISA, Microarray	32393661
MIRT732962	hsa-miR-137	ELISA, Microarray	32393661
MIRT1442042	hsa-miR-129-5p	CLIP-seq
MIRT1442043	hsa-miR-3192	CLIP-seq
MIRT1442044	hsa-miR-668	CLIP-seq
MIRT1555047	hsa-miR-4528	CLIP-seq
MIRT2132315	hsa-miR-1267	CLIP-seq
MIRT2132316	hsa-miR-135a	CLIP-seq
MIRT2132317	hsa-miR-135b	CLIP-seq
MIRT2132318	hsa-miR-150	CLIP-seq
MIRT2132319	hsa-miR-2115	CLIP-seq
MIRT2132320	hsa-miR-3140-3p	CLIP-seq
MIRT2132321	hsa-miR-3613-5p	CLIP-seq
MIRT2132322	hsa-miR-425	CLIP-seq
MIRT2132323	hsa-miR-4713-5p	CLIP-seq
MIRT2132324	hsa-miR-532-3p	CLIP-seq
MIRT2132325	hsa-miR-642b	CLIP-seq
MIRT1442042	hsa-miR-129-5p	CLIP-seq
MIRT2132316	hsa-miR-135a	CLIP-seq
MIRT2132317	hsa-miR-135b	CLIP-seq
MIRT2132319	hsa-miR-2115	CLIP-seq
MIRT2132322	hsa-miR-425	CLIP-seq
MIRT1555047	hsa-miR-4528	CLIP-seq
MIRT2353360	hsa-miR-4639-5p	CLIP-seq
MIRT2353361	hsa-miR-4795-3p	CLIP-seq
MIRT2353362	hsa-miR-628-5p	CLIP-seq
MIRT2132325	hsa-miR-642b	CLIP-seq
MIRT2353363	hsa-miR-656	CLIP-seq
MIRT1442044	hsa-miR-668	CLIP-seq
MIRT2132318	hsa-miR-150	CLIP-seq
MIRT2132323	hsa-miR-4713-5p	CLIP-seq
MIRT2132324	hsa-miR-532-3p	CLIP-seq
MIRT2132315	hsa-miR-1267	CLIP-seq
MIRT2434137	hsa-miR-144	CLIP-seq
MIRT2132320	hsa-miR-3140-3p	CLIP-seq
MIRT2132321	hsa-miR-3613-5p	CLIP-seq
MIRT2434138	hsa-miR-362-5p	CLIP-seq
MIRT2434139	hsa-miR-3662	CLIP-seq
MIRT2434140	hsa-miR-3688-3p	CLIP-seq
MIRT2434141	hsa-miR-4261	CLIP-seq
MIRT2434142	hsa-miR-4495	CLIP-seq
MIRT2353360	hsa-miR-4639-5p	CLIP-seq
MIRT2434143	hsa-miR-4694-3p	CLIP-seq
MIRT2434144	hsa-miR-4789-5p	CLIP-seq
MIRT2434145	hsa-miR-495	CLIP-seq
MIRT2434146	hsa-miR-500b	CLIP-seq
MIRT2434147	hsa-miR-501-5p	CLIP-seq
MIRT2132325	hsa-miR-642b	CLIP-seq
MIRT2434148	hsa-miR-944	CLIP-seq
MIRT2647229	hsa-miR-105	CLIP-seq
MIRT2647230	hsa-miR-1229	CLIP-seq
MIRT2647231	hsa-miR-1238	CLIP-seq
MIRT2647232	hsa-miR-1270	CLIP-seq
MIRT2647233	hsa-miR-1285	CLIP-seq
MIRT1442042	hsa-miR-129-5p	CLIP-seq
MIRT2647234	hsa-miR-1306	CLIP-seq
MIRT2132318	hsa-miR-150	CLIP-seq
MIRT2647235	hsa-miR-1587	CLIP-seq
MIRT2647236	hsa-miR-1915	CLIP-seq
MIRT2647237	hsa-miR-19a	CLIP-seq
MIRT2647238	hsa-miR-19b	CLIP-seq
MIRT2647239	hsa-miR-2861	CLIP-seq
MIRT2647240	hsa-miR-2964a-5p	CLIP-seq
MIRT2647241	hsa-miR-3124-3p	CLIP-seq
MIRT2647242	hsa-miR-3130-5p	CLIP-seq
MIRT2647243	hsa-miR-3138	CLIP-seq
MIRT2647244	hsa-miR-3147	CLIP-seq
MIRT2647245	hsa-miR-3183	CLIP-seq
MIRT2647246	hsa-miR-3187-5p	CLIP-seq
MIRT1442043	hsa-miR-3192	CLIP-seq
MIRT2647247	hsa-miR-323b-5p	CLIP-seq
MIRT2647248	hsa-miR-326	CLIP-seq
MIRT2647249	hsa-miR-328	CLIP-seq
MIRT2647250	hsa-miR-330-5p	CLIP-seq
MIRT2647251	hsa-miR-3545-5p	CLIP-seq
MIRT2647252	hsa-miR-365	CLIP-seq
MIRT2647253	hsa-miR-3689d	CLIP-seq
MIRT2647254	hsa-miR-378g	CLIP-seq
MIRT2647255	hsa-miR-3911	CLIP-seq
MIRT2647256	hsa-miR-3934	CLIP-seq
MIRT2647257	hsa-miR-4281	CLIP-seq
MIRT2647258	hsa-miR-4292	CLIP-seq
MIRT2647259	hsa-miR-4308	CLIP-seq
MIRT2647260	hsa-miR-4316	CLIP-seq
MIRT2647261	hsa-miR-4423-5p	CLIP-seq
MIRT2647262	hsa-miR-4482	CLIP-seq
MIRT2647263	hsa-miR-4486	CLIP-seq
MIRT2647264	hsa-miR-4492	CLIP-seq
MIRT2434142	hsa-miR-4495	CLIP-seq
MIRT2647265	hsa-miR-4498	CLIP-seq
MIRT2647266	hsa-miR-4499	CLIP-seq
MIRT2647267	hsa-miR-4531	CLIP-seq
MIRT2353360	hsa-miR-4639-5p	CLIP-seq
MIRT2647268	hsa-miR-4641	CLIP-seq
MIRT2647269	hsa-miR-4656	CLIP-seq
MIRT2647270	hsa-miR-4668-3p	CLIP-seq
MIRT2647271	hsa-miR-4674	CLIP-seq
MIRT2647272	hsa-miR-4675	CLIP-seq
MIRT2647273	hsa-miR-4710	CLIP-seq
MIRT2647274	hsa-miR-4713-3p	CLIP-seq
MIRT2132323	hsa-miR-4713-5p	CLIP-seq
MIRT2647275	hsa-miR-4723-3p	CLIP-seq
MIRT2647276	hsa-miR-4726-3p	CLIP-seq
MIRT2647277	hsa-miR-4741	CLIP-seq
MIRT2647278	hsa-miR-4781-3p	CLIP-seq
MIRT2434144	hsa-miR-4789-5p	CLIP-seq
MIRT2647279	hsa-miR-4799-5p	CLIP-seq
MIRT2647280	hsa-miR-4800-5p	CLIP-seq
MIRT2647281	hsa-miR-486-5p	CLIP-seq
MIRT2647282	hsa-miR-494	CLIP-seq
MIRT2434145	hsa-miR-495	CLIP-seq
MIRT2647283	hsa-miR-500a	CLIP-seq
MIRT2434147	hsa-miR-501-5p	CLIP-seq
MIRT2647284	hsa-miR-511	CLIP-seq
MIRT2647285	hsa-miR-518a-5p	CLIP-seq
MIRT2647286	hsa-miR-527	CLIP-seq
MIRT2132324	hsa-miR-532-3p	CLIP-seq
MIRT2647287	hsa-miR-548ae	CLIP-seq
MIRT2647288	hsa-miR-548aj	CLIP-seq
MIRT2647289	hsa-miR-548am	CLIP-seq
MIRT2647290	hsa-miR-548x	CLIP-seq
MIRT2647291	hsa-miR-612	CLIP-seq
MIRT2647292	hsa-miR-620	CLIP-seq
MIRT2353362	hsa-miR-628-5p	CLIP-seq
MIRT2132325	hsa-miR-642b	CLIP-seq
MIRT1442044	hsa-miR-668	CLIP-seq
MIRT2647293	hsa-miR-762	CLIP-seq
MIRT2647294	hsa-miR-9	CLIP-seq
MIRT2434148	hsa-miR-944	CLIP-seq
MIRT2647229	hsa-miR-105	CLIP-seq
MIRT2647230	hsa-miR-1229	CLIP-seq
MIRT2647231	hsa-miR-1238	CLIP-seq
MIRT2647232	hsa-miR-1270	CLIP-seq
MIRT2647233	hsa-miR-1285	CLIP-seq
MIRT1442042	hsa-miR-129-5p	CLIP-seq
MIRT2647234	hsa-miR-1306	CLIP-seq
MIRT2132318	hsa-miR-150	CLIP-seq
MIRT2647235	hsa-miR-1587	CLIP-seq
MIRT2647236	hsa-miR-1915	CLIP-seq
MIRT2647237	hsa-miR-19a	CLIP-seq
MIRT2647238	hsa-miR-19b	CLIP-seq
MIRT2647239	hsa-miR-2861	CLIP-seq
MIRT2647240	hsa-miR-2964a-5p	CLIP-seq
MIRT2647241	hsa-miR-3124-3p	CLIP-seq
MIRT2647242	hsa-miR-3130-5p	CLIP-seq
MIRT2647243	hsa-miR-3138	CLIP-seq
MIRT2647244	hsa-miR-3147	CLIP-seq
MIRT2647245	hsa-miR-3183	CLIP-seq
MIRT2647246	hsa-miR-3187-5p	CLIP-seq
MIRT1442043	hsa-miR-3192	CLIP-seq
MIRT2647247	hsa-miR-323b-5p	CLIP-seq
MIRT2647248	hsa-miR-326	CLIP-seq
MIRT2647249	hsa-miR-328	CLIP-seq
MIRT2647250	hsa-miR-330-5p	CLIP-seq
MIRT2647251	hsa-miR-3545-5p	CLIP-seq
MIRT2647252	hsa-miR-365	CLIP-seq
MIRT2647253	hsa-miR-3689d	CLIP-seq
MIRT2647254	hsa-miR-378g	CLIP-seq
MIRT2647255	hsa-miR-3911	CLIP-seq
MIRT2647256	hsa-miR-3934	CLIP-seq
MIRT2647257	hsa-miR-4281	CLIP-seq
MIRT2647258	hsa-miR-4292	CLIP-seq
MIRT2647259	hsa-miR-4308	CLIP-seq
MIRT2647260	hsa-miR-4316	CLIP-seq
MIRT2647261	hsa-miR-4423-5p	CLIP-seq
MIRT2647262	hsa-miR-4482	CLIP-seq
MIRT2647263	hsa-miR-4486	CLIP-seq
MIRT2647264	hsa-miR-4492	CLIP-seq
MIRT2434142	hsa-miR-4495	CLIP-seq
MIRT2647265	hsa-miR-4498	CLIP-seq
MIRT2647266	hsa-miR-4499	CLIP-seq
MIRT2647267	hsa-miR-4531	CLIP-seq
MIRT2353360	hsa-miR-4639-5p	CLIP-seq
MIRT2647268	hsa-miR-4641	CLIP-seq
MIRT2647269	hsa-miR-4656	CLIP-seq
MIRT2647270	hsa-miR-4668-3p	CLIP-seq
MIRT2647271	hsa-miR-4674	CLIP-seq
MIRT2647272	hsa-miR-4675	CLIP-seq
MIRT2647273	hsa-miR-4710	CLIP-seq
MIRT2647274	hsa-miR-4713-3p	CLIP-seq
MIRT2132323	hsa-miR-4713-5p	CLIP-seq
MIRT2647275	hsa-miR-4723-3p	CLIP-seq
MIRT2647276	hsa-miR-4726-3p	CLIP-seq
MIRT2647277	hsa-miR-4741	CLIP-seq
MIRT2647278	hsa-miR-4781-3p	CLIP-seq
MIRT2434144	hsa-miR-4789-5p	CLIP-seq
MIRT2647279	hsa-miR-4799-5p	CLIP-seq
MIRT2647280	hsa-miR-4800-5p	CLIP-seq
MIRT2647281	hsa-miR-486-5p	CLIP-seq
MIRT2647282	hsa-miR-494	CLIP-seq
MIRT2434145	hsa-miR-495	CLIP-seq
MIRT2647283	hsa-miR-500a	CLIP-seq
MIRT2434147	hsa-miR-501-5p	CLIP-seq
MIRT2647284	hsa-miR-511	CLIP-seq
MIRT2647285	hsa-miR-518a-5p	CLIP-seq
MIRT2647286	hsa-miR-527	CLIP-seq
MIRT2132324	hsa-miR-532-3p	CLIP-seq
MIRT2647287	hsa-miR-548ae	CLIP-seq
MIRT2647288	hsa-miR-548aj	CLIP-seq
MIRT2647289	hsa-miR-548am	CLIP-seq
MIRT2647290	hsa-miR-548x	CLIP-seq
MIRT2647291	hsa-miR-612	CLIP-seq
MIRT2647292	hsa-miR-620	CLIP-seq
MIRT2353362	hsa-miR-628-5p	CLIP-seq
MIRT2132325	hsa-miR-642b	CLIP-seq
MIRT1442044	hsa-miR-668	CLIP-seq
MIRT2647293	hsa-miR-762	CLIP-seq
MIRT2647294	hsa-miR-9	CLIP-seq
MIRT2434148	hsa-miR-944	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ETS1	Activation	15001984
ETS1	Unknown	10618716
ETS2	Unknown	10618716
JUN	Activation	9154819
NFKB1	Unknown	20723226
RELA	Activation	9154819
RELA	Unknown	20723226
SMAD3	Activation	15001984
SMAD4	Activation	15001984
SP1	Activation	15001984
SP1	Unknown	10618716;16245312

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001558	Process	Regulation of cell growth	IDA	11731446
GO:0001649	Process	Osteoblast differentiation	HDA	16210410
GO:0002009	Process	Morphogenesis of an epithelium	IEA
GO:0002009	Process	Morphogenesis of an epithelium	ISO
GO:0005178	Function	Integrin binding	IDA	22654117
GO:0005201	Function	Extracellular matrix structural constituent	ISS
GO:0005201	Function	Extracellular matrix structural constituent	RCA	20551380, 25037231, 27559042, 28327460, 28675934
GO:0005515	Function	Protein binding	IPI	20979576, 29150600
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005604	Component	Basement membrane	IEA
GO:0005604	Component	Basement membrane	ISO
GO:0005614	Component	Interstitial matrix	IEA
GO:0005615	Component	Extracellular space	HDA	16502470, 20551380
GO:0005615	Component	Extracellular space	IBA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	1704365
GO:0007162	Process	Negative regulation of cell adhesion	IEA
GO:0007528	Process	Neuromuscular junction development	IEA
GO:0007528	Process	Neuromuscular junction development	ISO
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0009611	Process	Response to wounding	IDA	16891397
GO:0009611	Process	Response to wounding	IEA
GO:0009611	Process	Response to wounding	IEP	16891397
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	ISO
GO:0014012	Process	Peripheral nervous system axon regeneration	IEA
GO:0014012	Process	Peripheral nervous system axon regeneration	ISO
GO:0016020	Component	Membrane	HDA	16210410
GO:0030155	Process	Regulation of cell adhesion	IBA
GO:0030155	Process	Regulation of cell adhesion	IDA	11731446
GO:0030334	Process	Regulation of cell migration	NAS	12845616
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	23658023, 25037231, 27559042, 28327460, 28675934
GO:0031012	Component	Extracellular matrix	ISS	22261194
GO:0031175	Process	Neuron projection development	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0045545	Function	Syndecan binding	IDA	8769660
GO:0050727	Process	Regulation of inflammatory response	IEA
GO:0050727	Process	Regulation of inflammatory response	ISO
GO:0060447	Process	Bud outgrowth involved in lung branching	IEA
GO:0060739	Process	Mesenchymal-epithelial cell signaling involved in prostate gland development	IEA
GO:0060740	Process	Prostate gland epithelium morphogenesis	IEA
GO:0071300	Process	Cellular response to retinoic acid	IEA
GO:0071305	Process	Cellular response to vitamin D	IEA
GO:0071774	Process	Response to fibroblast growth factor	IEA
GO:0071799	Process	Cellular response to prostaglandin D stimulus	IEA
GO:0090733	Component	Tenascin complex	IEA
GO:0090733	Component	Tenascin complex	ISO
GO:0098965	Component	Extracellular matrix of synaptic cleft	IEA
GO:0098966	Component	Perisynaptic extracellular matrix	IBA
GO:0098966	Component	Perisynaptic extracellular matrix	IEA
GO:0098978	Component	Glutamatergic synapse	IEA

Other IDs

• MIM: 187380
• HGNC: 5318
• e!Ensembl: ENSG00000041982

Protein

• UniProt ID: P24821
• Protein name: Tenascin (TN) (Cytotactin) (GMEM) (GP 150-225) (Glioma-associated-extracellular matrix antigen) (Hexabrachion) (JI) (Myotendinous antigen) (Neuronectin) (Tenascin-C) (TN-C)
• Protein function: Extracellular matrix protein implicated in guidance of migrating neurons as well as axons during development, synaptic plasticity as well as neuronal regeneration. Promotes neurite outgrowth from cortical neurons grown on a monolayer of astrocyt
• PDB: 1TEN, 2RB8, 2RBL, 5R5T, 5R5U, 5R5V, 5R5W, 5R5X, 5R5Y, 5R5Z, 5R60, 5R61, 5R62, 5R63, 6BRB, 6QNV, 8FN8, 8FNB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18720	EGF_Tenascin	189 → 217	Tenascin EGF domain	Domain
  PF07974	EGF_2	221 → 247	EGF-like domain	Domain
  PF18720	EGF_Tenascin	251 → 280	Tenascin EGF domain	Domain
  PF18720	EGF_Tenascin	283 → 311	Tenascin EGF domain	Domain
  PF18720	EGF_Tenascin	345 → 373	Tenascin EGF domain	Domain
  PF07974	EGF_2	377 → 403	EGF-like domain	Domain
  PF18720	EGF_Tenascin	407 → 435	Tenascin EGF domain	Domain
  PF18720	EGF_Tenascin	438 → 466	Tenascin EGF domain	Domain
  PF07974	EGF_2	470 → 496	EGF-like domain	Domain
  PF18720	EGF_Tenascin	500 → 528	Tenascin EGF domain	Domain
  PF07974	EGF_2	532 → 558	EGF-like domain	Domain
  PF18720	EGF_Tenascin	562 → 590	Tenascin EGF domain	Domain
  PF18720	EGF_Tenascin	593 → 621	Tenascin EGF domain	Domain
  PF00041	fn3	624 → 701	Fibronectin type III domain	Domain
  PF00041	fn3	713 → 794	Fibronectin type III domain	Domain
  PF00041	fn3	804 → 884	Fibronectin type III domain	Domain
  PF00041	fn3	894 → 977	Fibronectin type III domain	Domain
  PF00041	fn3	986 → 1065	Fibronectin type III domain	Domain
  PF00041	fn3	1074 → 1154	Fibronectin type III domain	Domain
  PF00041	fn3	1166 → 1248	Fibronectin type III domain	Domain
  PF00041	fn3	1257 → 1337	Fibronectin type III domain	Domain
  PF00041	fn3	1348 → 1427	Fibronectin type III domain	Domain
  PF00041	fn3	1439 → 1511	Fibronectin type III domain	Domain
  PF00041	fn3	1530 → 1610	Fibronectin type III domain	Domain
  PF00041	fn3	1621 → 1701	Fibronectin type III domain	Domain
  PF00041	fn3	1711 → 1790	Fibronectin type III domain	Domain
  PF00041	fn3	1800 → 1877	Fibronectin type III domain	Domain
  PF00041	fn3	1888 → 1964	Fibronectin type III domain	Domain
  PF00147	Fibrinogen_C	1980 → 2189	Fibrinogen beta and gamma chains, C-terminal globular domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in fibroblasts (at protein level). {ECO:0000269|PubMed:36213313}.
• Sequence:

  MGAMTQLLAGVFLAFLALATEGGVLKKVIRHKRQSGVNATLPEENQPVVFNHVYNIKLPV
  GSQCSVDLESASGEKDLAPPSEPSESFQEHTVDGENQIVFTHRINIPRRACGCAAAPDVK
  ELLSRLEELENLVSSLREQCTAGAGCCLQPATGRLDTRPFCSGRGNFSTEGCGCVCEPGW
  KGPNCSEPECPGNCHLRGRCIDGQCICDDGFTGEDCSQLACPSDCNDQGKCVNGVCICFE
  GYAGADCSREICPVPCSEEHGTCVDGLCVCHDGFAGDDCNKPLCLNNCYNRGRCVENECV
  CDEGFTGEDCSELICPNDCFDRGRCINGTCYCEEGFTGEDCGKPTCPHACHTQGRCEEGQ
  CVCDEGFAGVDCSEKRCPADCHNRGRCVDGRCECDDGFTGADCGELKCPNGCSGHGRCVN
  GQCVCDEGYTGEDCSQLRCPNDCHSRGRCVEGKCVCEQGFKGYDCSDMSCPNDCHQHGRC
  VNGMCVCDDGYTGEDCRDRQCPRDCSNRGLCVDGQCVCEDGFTGPDCAELSCPNDCHGQG
  RCVNGQCVCHEGFMGKDCKEQRCPSDCHGQGRCVDGQCICHEGFTGLDCGQHSCPSDCNN
  LGQCVSGRCICNEGYSGEDCSEVSPPKDLVVTEVTEETVNLAWDNEMRVTEYLVVYTPTH
  EGGLEMQFRVPGDQTSTIIQELEPGVEYFIRVFAILENKKSIPVSARVATYLPAPEGLKF
  KSIKETSVEVEWDPLDIAFETWEIIFRNMNKEDEGEITKSLRRPETSYRQTGLAPGQEYE
  ISLHIVKNNTRGPGLKRVTTTRLDAPSQIEVKDVTDTTALITWFKPLAEIDGIELTYGIK
  DVPGDRTTIDLTEDENQYSIGNLKPDTEYEVSLISRRGDMSSNPAKETFTTGLDAPRNLR
  RVSQTDNSITLEWRNGKAAIDSYRIKYAPISGGDHAEVDVPKSQQATTKTTLTGLRPGTE
  YGIGVSAVKEDKESNPATINAATELDTPKDLQVSETAETSLTLLWKTPLAKFDRYRLNYS
  LPTGQWVGVQLPRNTTSYVLRGLEPGQEYNVLLTAEKGRHKSKPARVKASTEQAPELENL
  TVTEVGWDGLRLNWTAADQAYEHFIIQVQEANKVEAARNLTVPGSLRAVDIPGLKAATPY
  TVSIYGVIQGYRTPVLSAEASTGETPNLGEVVVAEVGWDALKLNWTAPEGAYEYFFIQVQ
  EADTVEAAQNLTVPGGLRSTDLPGLKAATHYTITIRGVTQDFSTTPLSVEVLTEEVPDMG
  NLTVTEVSWDALRLNWTTPDGTYDQFTIQVQEADQVEEAHNLTVPGSLRSMEIPGLRAGT
  PYTVTLHGEVRGHSTRPLAVEVVTEDLPQLGDLAVSEVGWDGLRLNWTAADNAYEHFVIQ
  VQEVNKVEAAQNLTLPGSLRAVDIPGLEAATPYRVSIYGVIRGYRTPVLSAEASTAKEPE
  IGNLNVSDITPESFNLSWMATDGIFETFTIEIIDSNRLLETVEYNISGAERTAHISGLPP
  STDFIVYLSGLAPSIRTKTISATATTEALPLLENLTISDINPYGFTVSWMASENAFDSFL
  VTVVDSGKLLDPQEFTLSGTQRKLELRGLITGIGYEVMVSGFTQGHQTKPLRAEIVTEAE
  PEVDNLLVSDATPDGFRLSWTADEGVFDNFVLKIRDTKKQSEPLEITLLAPERTRDITGL
  REATEYEIELYGISKGRRSQTVSAIATTAMGSPKEVIFSDITENSATVSWRAPTAQVESF
  RITYVPITGGTPSMVTVDGTKTQTRLVKLIPGVEYLVSIIAMKGFEESEPVSGSFTTALD
  GPSGLVTANITDSEALARWQPAIATVDSYVISYTGEKVPEITRTVSGNTVEYALTDLEPA
  TEYTLRIFAEKGPQKSSTITAKFTTDLDSPRDLTATEVQSETALLTWRPPRASVTGYLLV
  YESVDGTVKEVIVGPDTTSYSLADLSPSTHYTAKIQALNGPLRSNMIQTIFTTIGLLYPF
  PKDCSQAMLNGDTTSGLYTIYLNGDKAEALEVFCDMTSDGGGWIVFLRRKNGRENFYQNW
  KAYAAGFGDRREEFWLGLDNLNKITAQGQYELRVDLRDHGETAFAVYDKFSVGDAKTRYK
  LKVEGYSGTAGDSMAYHNGRSFSTFDKDTDSAITNCALSYKGAFWYRNCHRVNLMGRYGD
  NNHSQGVNWFHWKGHEHSIQFAEMKLRPSNFRNLEGRRKRA

• Sequence length: 2201

Pathways

KEGG:

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

Reactome:

Integrin cell surface interactions
ECM proteoglycans
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal dominant nonsyndromic hearing loss 56	Pathogenic; Likely pathogenic	rs431905513, rs1246681473, rs151119387	RCV000083260 RCV003584025 RCV004585139	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TNC-related disorder	Likely pathogenic	rs151119387	RCV004731662	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BULLOUS PEMPHIGOID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 56	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUPUYTREN CONTRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hereditary breast ovarian cancer syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meniere disease	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MOOD DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS OF HIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PLEURAL DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Progressive sensorineural hearing impairment	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPECIFIC LANGUAGE IMPAIRMENT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VARICOSE VEINS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VARICOSITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vertigo	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations