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

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Deafness	Autosomal dominant nonsyndromic hearing loss 56	rs431905513	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
hearing impairment	Hearing impairment	N/A	N/A	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Acute Coronary Syndrome	Associate	14993772, 38471098
Adenocarcinoma	Inhibit	16698949
Adenocarcinoma	Stimulate	22588153
Adenocarcinoma	Associate	7684238
Adenocarcinoma of Lung	Associate	36878305
Adenoma	Associate	7684238
Aneuploidy	Inhibit	7690353
Aneurysm	Stimulate	18179910
Anophthalmia with pulmonary hypoplasia	Associate	21747918
Aortic Aneurysm Abdominal	Associate	21593211, 9357470
Aortic Aneurysm Familial Abdominal 1	Associate	9357470
Aortic Dissection	Stimulate	23656926
Aortic Dissection	Associate	35496052
Aortic Valve Stenosis	Associate	11755293
Apical Hypertrophic Cardiomyopathy	Associate	30070845
Arthritis	Associate	21548989
Arthritis Infectious	Associate	30442110
Arthritis Juvenile	Associate	31941549
Arthritis Psoriatic	Associate	9138475, 9209678
Arthritis Rheumatoid	Associate	16388320, 17262825, 27230945, 29038247, 34458379, 34972837
Arthritis Rheumatoid	Stimulate	20107185
Ascites	Associate	32312959
Asthma	Associate	10464830, 14509559, 14734780, 15661077, 18305139, 18503712, 24587395
Astrocytoma	Associate	10936787, 21997179, 25469866
Atherosclerosis	Associate	21298289, 24696262, 26133317, 28720870
Atrial Fibrillation	Stimulate	34332113
Atrial Remodeling	Associate	19815660
Autistic Disorder	Associate	25768348
Autoimmune Diseases	Associate	30442110, 9462272
Basal Cell Nevus Syndrome	Associate	19287498
Biliary Tract Neoplasms	Associate	33692777
Bipolar Disorder	Associate	32339108
Brain Injuries	Stimulate	30980710
Brain Injuries	Associate	39191768
Brain Injuries Traumatic	Associate	30980710
Brain Neoplasms	Associate	14635078, 20118657
Brain Neoplasms	Inhibit	25423301
Brain Stem Neoplasms	Associate	31092287
Breast Neoplasms	Associate	11033461, 15509674, 15566434, 18062933, 18765548, 19405959, 20678196, 21281808, 24495796, 27487140, 30154546, 35246056, 37270997, 9836485
Breast Neoplasms	Stimulate	24696262, 32817625
Burnett Schwartz Berberian syndrome	Associate	7495300
Bursitis	Stimulate	27438566
Calcinosis Cutis	Associate	15735164, 24495796
Carcinogenesis	Associate	14676325, 15816617, 16775434, 17262825, 26337438, 26731558
Carcinoma	Associate	9459152
Carcinoma Ductal	Associate	30154546
Carcinoma Giant Cell	Stimulate	34120502
Carcinoma Hepatocellular	Associate	24966965
Carcinoma in Situ	Stimulate	1384340
Carcinoma Intraductal Noninfiltrating	Associate	11033461
Carcinoma Medullary	Inhibit	15855225
Carcinoma Merkel Cell	Associate	15735164
Carcinoma Non Small Cell Lung	Associate	15816617
Carcinoma Non Small Cell Lung	Stimulate	22588153
Carcinoma Pancreatic Ductal	Associate	25524936, 30451798
Carcinoma Squamous Cell	Stimulate	22588153
Carcinoma Squamous Cell	Associate	29568882, 34320931
Cardiomyopathies	Associate	17322629, 36814108
Cardiomyopathy Dilated	Stimulate	17322629
Cardiomyopathy Dilated	Associate	26763891, 30070845, 8800995
Cardiomyopathy Hypertrophic	Associate	26976709
Cardiovascular Diseases	Associate	11755293, 38471098
Carotid Artery Diseases	Associate	40489880
Cartilage Diseases	Associate	14962956, 36010590
Cherubism	Associate	34120502
Chondrosarcoma	Associate	11565810, 12168675
Clubfoot	Associate	35292718
Colitis Ulcerative	Stimulate	31886172
Colonic Neoplasms	Associate	7684238
Colorectal Neoplasms	Associate	27191989, 29065427, 36222933, 7684238, 7690353, 9275031
Coma	Associate	24598996
Constriction Pathologic	Stimulate	16077420
Corneal Dystrophies Hereditary	Associate	22876117
Corneal Dystrophy Band Shaped	Associate	11371495
Coronary Aneurysm	Associate	14993772
Coronary Artery Disease	Associate	21298289
COVID 19	Associate	33098359, 33804769, 37040675
Crisponi syndrome	Associate	30070845
Crohn Disease	Stimulate	31886172
Cysts	Associate	26684027
Cytokine Release Syndrome	Stimulate	20107185
Deafness	Associate	35062939
Deafness Autosomal Dominant 1	Associate	36071244
Death	Associate	26763891, 28617804
Death	Stimulate	30442110
Depressive Disorder Major	Associate	26171980
Dermatitis Atopic 1	Associate	14509559, 18305139
Dermatofibrosarcoma	Associate	34256767
Diabetes Mellitus	Associate	24095823, 26763891
Diffuse Intrinsic Pontine Glioma	Stimulate	31092287
Dissection Ascending Aorta	Associate	23656926
Drug Hypersensitivity	Associate	18305139
Dystonic Disorders	Associate	31190668
Endometriosis	Associate	17681310
Enteritis	Stimulate	15178550
Ependymoma	Associate	27550150
Epilepsy	Associate	31190668
Erythema elevatum diutinum	Associate	36012487
Esophageal Neoplasms	Associate	26731558
Esophageal Squamous Cell Carcinoma	Associate	26731558
Familial ependymoma	Associate	28617804
Fibrosis	Associate	27438566, 36047568, 7495300, 8800995, 9462272
Fibrosis	Stimulate	9349157
Focal Cortical Dysplasia	Associate	34301297
Focal cortical dysplasia of Taylor	Associate	34301297
Fuchs' Endothelial Dystrophy	Associate	35239706, 37369713
Gastrointestinal Stromal Tumors	Associate	30633201
Giant Cell Arteritis	Associate	39817309
Glioblastoma	Associate	10329587, 10936787, 16388320, 16775434, 19172848, 20118657, 25423301, 25469866, 25944688, 27820599, 30889203, 31889095, 33782530, 35327982, 35702951, 7680113
Glioma	Associate	17279316, 19172848, 19884327, 20118657, 25469866, 27820599, 31889095, 33876384, 35371015, 35882906
Granuloma	Associate	26337438
Head and Neck Neoplasms	Associate	21548989
Hearing Loss	Associate	23936043, 35062939
Heart Failure	Stimulate	17322629
Heart Failure	Associate	24696262
Heart Valve Diseases	Associate	19040616
Hemorrhage	Associate	14993772
Hodgkin Disease	Associate	7694469
Hyperplasia	Stimulate	1384340
Hypertension	Associate	11755293
Hypertension Pulmonary	Associate	10483972
Hypertension Pulmonary	Stimulate	29117120
Hypertrophy Left Ventricular	Associate	19815660
Hypoxia	Associate	35371015
Idiopathic Pulmonary Fibrosis	Stimulate	25064447
Idiopathic Pulmonary Fibrosis	Associate	7495300
Immunoglobulin Light chain Amyloidosis	Associate	18923384
Infections	Stimulate	1384340
Inflammation	Associate	14509559, 16388320, 17262825, 17322629, 18945811, 20107185, 27230945, 27438566, 29027377, 29150600, 31886172, 36047568, 7694469, 8763275, 9349157, 9357470
Inflammation	Stimulate	14993772, 30442110, 33804769, 8644862
Inflammatory Bowel Diseases	Associate	31886172
Infratentorial Neoplasms	Associate	27550150, 28617804
Kashin Beck Disease	Associate	36010590
Keloid	Associate	16388320
Kidney Diseases	Associate	8544410
Lattice corneal dystrophy type 1	Associate	22876117
Leukemia Hairy Cell	Associate	7694469
Limb girdle muscular dystrophy type 2B	Associate	18832576
Lung Diseases	Associate	16782755, 21039988, 25064447
Lung Diseases	Stimulate	28962592
Lung Diseases Interstitial	Associate	7495300
Lung Neoplasms	Associate	25609695, 36878305, 9459152
Lymphatic Metastasis	Associate	25227853, 26731558, 9459152
Lymphatic Metastasis	Stimulate	29987979
Lymphoma	Associate	7694469
Lymphoma Non Hodgkin	Associate	33327771
Macular Degeneration	Associate	28651595
Medulloblastoma	Associate	18794852
Melanoma	Associate	1707164, 17968313, 22951722, 34257527
Meningeal Neoplasms	Associate	18794852
Mouth Diseases	Associate	1384340
Mouth Neoplasms	Associate	17595777, 35804390
Muscle Neoplasms	Associate	28481416
Myasthenia Gravis	Associate	9462272
Myasthenic Syndromes Congenital	Associate	7694469
Myocardial Infarction	Associate	17322629
Myocarditis	Associate	17322629
Myositis Ossificans	Associate	34954853
Neointima	Stimulate	26133317
Neoplasm Invasiveness	Associate	11033461, 15333651, 16788848, 34320931
Neoplasm Metastasis	Associate	11565810, 21747918, 25609695, 26652622, 27191989, 29065427, 30633201, 31521948, 33739025, 37098922, 7541237, 9836485
Neoplasm Metastasis	Stimulate	36878305
Neoplasms	Associate	10389993, 10936787, 11033461, 11487270, 12527748, 1374030, 1384340, 14635078, 14676325, 15333651, 15566434, 15735164, 15816617, 15855225, 16388320, 16775434, 16788848, 1704365, 17352241, 18062933, 18248671, 18751407, 19172848, 19405959, 20107185, 20118657, 20678196, 21548989, 22588153, 24598996, 24696262, 25469866, 25609695, 26652622, 26731558, 26949839, 27191989, 27409604, 27487140, 27550150, 28415821, 28617804, 28986537, 29150600, 30451798, 30633201, 31889095, 32312959, 32817625, 35246056, 35371015, 35661080, 36299463, 36878305, 37098922, 37649596, 39267750, 7541237, 7680113, 7693718, 8855965, 9275031, 9349157, 9459152
Neoplasms	Stimulate	17279316, 18490578, 21281808, 24495796, 31092287
Neoplasms Radiation Induced	Associate	36047568
Non Muscle Invasive Bladder Neoplasms	Associate	16788848, 34564696
Nonsyndromic Deafness	Associate	23936043
Organizing Pneumonia	Associate	7495300
Osteoarthritis	Stimulate	12623293
Osteoarthritis	Associate	14962956
Osteosarcoma	Associate	24598996
Ovarian Neoplasms	Associate	32312959, 8855965
Pancreatic Neoplasms	Associate	15509674, 16036106, 20686216, 21071578, 21747918, 26652622, 30416314
Pancreatitis	Associate	21747918
Parakeratosis	Associate	9138475
Peri Implantitis	Associate	37370064
Peripheral Nervous System Neoplasms	Associate	16443732
Personality Disorders	Associate	34120502
Plaque Atherosclerotic	Associate	21298289
Prostatic Hyperplasia	Associate	18314176
Prostatic Neoplasms	Associate	35948987
Psoriasis	Stimulate	1719820
Psychotic Disorders	Inhibit	32339108
Pulmonary Arterial Hypertension	Associate	16782755
Pulmonary Disease Chronic Obstructive	Stimulate	21496259
Pulmonary Disease Chronic Obstructive	Associate	23937155, 30111857
Pulmonary Embolism	Associate	33825327
Pulmonary Fibrosis	Associate	21898349, 7495300
Radiation Pneumonitis	Associate	36047568
Retinal Dysplasia	Stimulate	1384340
Retinal Perforations	Associate	27736918
Retinoblastoma	Associate	27488116
Rheumatic Diseases	Associate	17262825, 19040616
Sarcoma Ewing	Associate	29386236, 31521948
Scleroderma Systemic	Associate	21898349, 31545397, 8941674
Sepsis	Stimulate	30442110
Skin Diseases	Stimulate	1719820
Skin Neoplasms	Stimulate	1719820
Skin Neoplasms	Associate	9129232
Squamous Cell Carcinoma of Head and Neck	Associate	17595777, 18490578, 18751374, 28095396, 28415821, 33739025
Status Asthmaticus	Associate	14523040, 14734780
Status Asthmaticus	Stimulate	35053372
Stenosis Pulmonary Artery	Associate	16782755
Stomach Neoplasms	Associate	18751407, 7541237
Takayasu Arteritis	Associate	39817309
Tertiary Lymphoid Structures	Associate	26652622, 7541237
Tertiary Lymphoid Structures	Stimulate	7694469
Thrombosis	Associate	14993772, 24696262
Thymus Hyperplasia	Associate	35147259
Thyroid cancer medullary	Associate	27409604
Thyroid Cancer Papillary	Associate	25227853, 28216675, 28849102, 37671970
Thyroiditis Autoimmune	Associate	9462272
Tn Syndrome	Associate	7690353
Tongue Neoplasms	Associate	28095396
Triple Negative Breast Neoplasms	Associate	37098922
Urinary Bladder Neoplasms	Associate	15333651, 16788848, 34564696, 35246056, 36245371
Uterine Cervical Dysplasia	Associate	10975921, 36768853
Uterine Cervical Neoplasms	Associate	10975921, 29987979
Uterine Cervicitis	Associate	10975921
Vascular Diseases	Associate	9094991
Vascular Remodeling	Associate	23656926, 29117120
Vascular System Injuries	Associate	10483972
Vasculitis	Associate	28962592
VATER association	Associate	15509674
Ventricular Dysfunction Left	Associate	26763891
Ventricular Dysfunction Right	Associate	29117120
Ventricular Remodeling	Associate	17322629, 19815660, 26763891, 29117120
Vesico Ureteral Reflux	Associate	26408188
Vitiligo	Associate	29054607