TECTA (tectorin alpha)

Gene

• Entrez ID: 7007
• Gene name: Tectorin alpha
• Gene symbol: TECTA
• Synonyms (NCBI Gene): DFNA12, DFNA8, DFNB21
• Chromosome: 11
• Chromosome location: 11q23.3
• Summary: The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909058	A>G	Pathogenic	Coding sequence variant, missense variant
rs121909059	T>A	Pathogenic	Coding sequence variant, missense variant
rs121909060	G>C	Pathogenic	Coding sequence variant, missense variant
rs121909061	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs121909062	G>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs121909063	C>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs139165033	C>A,G	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs140236996	C>G,T	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs142486386	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs142948530	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs144343770	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs144682235	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs145898158	C>T	Pathogenic	Coding sequence variant, missense variant
rs148440178	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs148619105	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs199638531	G>A	Uncertain-significance, pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs267607107	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs281865415	C>T	Pathogenic	Coding sequence variant, missense variant
rs368050948	C>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs368627411	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs372925383	G>A,T	Pathogenic	Splice donor variant
rs727503467	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs746386175	G>T	Likely-pathogenic	Splice acceptor variant
rs753896285	G>A	Pathogenic	Coding sequence variant, missense variant
rs760574657	C>T	Pathogenic	Coding sequence variant, stop gained
rs764153521	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs764424917	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs768295360	C>A,G,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant, missense variant
rs768993431	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs772606235	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs773573968	GG>-,G	Pathogenic	Coding sequence variant, frameshift variant
rs876657661	A>T	Likely-pathogenic	Splice acceptor variant
rs878853224	A>G	Pathogenic	Missense variant, coding sequence variant
rs955468054	C>A	Pathogenic	Stop gained, coding sequence variant
rs966621865	G>A	Pathogenic	Splice donor variant
rs1057518037	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057519150	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057520561	T>A	Pathogenic	Missense variant, coding sequence variant
rs1229070290	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1281790755	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1330220728	GGTG>-	Pathogenic	Stop gained, coding sequence variant
rs1555123909	C>A	Pathogenic	Coding sequence variant, stop gained
rs1555125138	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1555129231	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1565518246	CGCTGGGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1565519673	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1565522273	G>A	Pathogenic	Coding sequence variant, missense variant
rs1565536400	C>T	Pathogenic	Coding sequence variant, stop gained
rs1565541888	G>A	Pathogenic	Intron variant
rs1591437831	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1591462832	G>A	Pathogenic	Synonymous variant, coding sequence variant
rs1591464207	T>C	Likely-pathogenic	Coding sequence variant, missense variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005201	Function	Extracellular matrix structural constituent	IBA
GO:0005201	Function	Extracellular matrix structural constituent	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007160	Process	Cell-matrix adhesion	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	TAS	9590290
GO:0016020	Component	Membrane	IEA
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IEA
GO:0060088	Process	Auditory receptor cell stereocilium organization	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071944	Component	Cell periphery	IEA
GO:0098552	Component	Side of membrane	IEA

Other IDs

• MIM: 602574
• HGNC: 11720
• e!Ensembl: ENSG00000109927

Protein

• UniProt ID: O75443
• Protein name: Alpha-tectorin
• Protein function: One of the major non-collagenous components of the tectorial membrane (By similarity). The tectorial membrane is an extracellular matrix of the inner ear that covers the neuroepithelium of the cochlea and contacts the stereocilia bundles of spec
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06119	NIDO	163 → 251	Nidogen-like	Family
  PF00094	VWD	322 → 478	von Willebrand factor type D domain	Family
  PF08742	C8	523 → 591	C8 domain	Domain
  PF01826	TIL	597 → 650	Trypsin Inhibitor like cysteine rich domain	Domain
  PF12714	TILa	651 → 706	TILa domain	Domain
  PF00094	VWD	713 → 866	von Willebrand factor type D domain	Family
  PF08742	C8	911 → 980	C8 domain	Domain
  PF01826	TIL	984 → 1036	Trypsin Inhibitor like cysteine rich domain	Domain
  PF00094	VWD	1100 → 1258	von Willebrand factor type D domain	Family
  PF08742	C8	1300 → 1368	C8 domain	Domain
  PF01826	TIL	1372 → 1425	Trypsin Inhibitor like cysteine rich domain	Domain
  PF12714	TILa	1426 → 1480	TILa domain	Domain
  PF00094	VWD	1487 → 1639	von Willebrand factor type D domain	Family
  PF08742	C8	1690 → 1757	C8 domain	Domain
  PF00100	Zona_pellucida	1806 → 2057	Zona pellucida-like domain	Family

• Sequence:

  MNYSSFLRIWVSFIFALVQHQAQPRELMYPFWQNDTKTPKVDDGSSSEIKLAIPVFFFGV
  PYRTVYVNNNGVVSFNVLVSQFTPESFPLTDGRAFVAPFWADVHNGIRGEIYYRETMEPA
  ILKRATKDIRKYFKDMATFSATWVFIVTWEEVTFYGGSSTTPVNTFQAVLVSDGSYTFTL
  FNYYEINWTTGTASGGDPLTGLGGVMAQAGFNGGNLTNFFSLPGSRTPEIVNIQETTNVN
  VPGRWAFKVDGKEIDPANGCTSRGQFLRRGEVFWDDLNCTVKCRCLDFNNEIYCQEASCS
  PYEVCEPKGKFFYCSAVETSTCVVFGEPHYHTFDGFLFHFQGSCAYLLARQCLQTSSLPF
  FSVEAKNEHRRGSAVSWVKELSVEVNGYKILIPKGSYGRVKVNDLVTSLPVTLDLGTVKI
  YQSGISTAVETDFGLLVTFDGQHYASISVPGSYINSTCGLCGNYNKNPLDDFLRPDGRPA
  MSVLDLGESWRVYHADWKCDSGCVDNCTQCDAATEALYFGSDYCGFLNKTDGPLWECGTV
  VDPTAFVHSCVYDLCSVRDNGTLLCQAIQAYALVCQALGIPIGDWRTQTGCVSTVQCPSF
  SHYSVCTSSCPDTCSDLTASRNCATPCTEGCECNQGFVLSTSQCVPLHKCGCDFDGHYYT
  MGEFFWATANCTVQCLCEEGGDVYCFNKTCGSGEVCAVEDGYQGCFPKRETVCLLSQNQV
  LHTFDGASYAFPSEFSYTLLKTCPERPEYLEIDINKKKPDAGPAWLRGLRILVADQEVKI
  GGIGASEVKLNGQEVELPFFHPSGKLEIYRNKNSTTVESKGVVTVQYSDIGLLYIRLSTT
  YFNCTGGLCGFYNANASDEFCLPNGKCTDNLAVFLESWTTFEEICNGECGDLLKACNNDS
  ELLKFYRSRSRCGIINDPSNSSFLECHGVVNVTAYYRTCLFRLCQSGGNESELCDSVARY
  ASACKNADVEVGPWRTYDFCPLECPENSHFEECITCTETCETLTLGPICVDSCSEGCQCD
  EGYALLGSQCVTRSECGCNFEGHQLATNETFWVDLDCQIFCYCSGTDNRVHCETIPCKDD
  EYCMEEGGLYYCQARTDASCIVSGYGHYLTFDGFPFDFQTSCPLILCTTGSRPSSDSFPK
  FVVTAKNEDRDPSLALWVKQVDVTVFGYSIVIHRAYKHTVLVNSERLYLPLKLGQGKINI
  FSFGFHVVVETDFGLKVVYDWKTFLSITVPRSMQNSTYGLCGRYNGNPDDDLEMPMGLLA
  SSVNEFGQSWVKRDTFCQVGCGDRCPSCAKVEGFSKVQQLCSLIPNQNAAFSKCHSKVNP
  TFFYKNCLFDSCIDGGAVQTACSWLQNYASTCQTQGITVTGWRNYTSCTVTCPPNSHYES
  CVSVCQPRCAAIRLKSDCSHYCVEGCHCDAGYVLNGKSCILPHSCGCYSDGKYYEPKQLF
  WNSDCTRRCRCFRRNVIQCDPRQCKSDEECALRNGVRGCFSTKTSYCLAAGGGVFRTFDG
  AFLRFPANCAFVLSTICQKLPDISFQLIINFDKWSAPNLTIISPVYFYINEEQILINDRN
  TVKVNGTQVNVPFITGLATKIYSSEGFLVIDTSPDIQIYYNGFNVIKISISERLQNKVCG
  LCGNFNGDLTDDYVTLRGKPVVSSVVLAQSWKTNGMQKRPLAPSCNELQFSQYAAMCDNV
  HIQKMQGDGYCLKLTDMKGFFQPCYGLLDPLPFYESCYLDGCYSHKKFQLCGSLAAYGEA
  CRSFGILSTEWIEKENCSGVVEDPCVGADCPNRTCELGNGRELCGCIEPPPYGNNSHDII
  DAEVTCKAAQMEVSISKCKLFQLGFEREGVRINDRQCTGIEGEDFISFQINNTKGNCGNI
  VQSNGTHIMYKNTLWIESANNTGNIITRDRTINVEFSCAYELDIKISLDSVVKPMLSVIN
  LTVPTQEGSFITKMALYKNASYKHPYRQGEVVLTTRDVLYVGVFVVGADATHLILTLNKC
  YATPTRDSNDKLRYFIIEGGCQNLKDNTIGIEENAVSLTCRFHVTVFKFIGDYDEVHLHC
  AVSLCDSEKYSCKITCPHNSRIATDYTKEPKEQIISVGPIRRKRLDWCEDNGGCEQICTS
  RVDGPLCSCVTGTLQEDGKSCRASNSSMELQVWTLLLIMIQISLWHFVYKSGTTS

• Sequence length: 2155

Pathways

Reactome:

Post-translational modification: synthesis of GPI-anchored proteins

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Autosomal dominant nonsyndromic hearing loss 12	Likely pathogenic; Pathogenic	rs1947056659, rs2135128814, rs2135050168, rs1380941851, rs2496977483, rs121909058, rs966621865, rs121909059, rs121909060, rs121909061, rs121909063, rs1591462832, rs753896285, rs140236996, rs878853224, rs763872132, rs2496916736, rs199638531, rs1947057220, rs1455568421	RCV001327987 RCV002250765 RCV002503291 RCV002287280 RCV003984868 RCV000007429 RCV005357088 RCV000007431 RCV000007432 RCV000007435 RCV000007437 RCV000007438 RCV000007439 RCV000225094 RCV000225064 RCV000225015 RCV004018045 RCV004585135 RCV005044882 RCV001089557 RCV001196258
Autosomal recessive nonsyndromic hearing loss 21	Likely pathogenic; Pathogenic	rs2135050168, rs1946605498, rs267602733, rs764994708, rs2496925088, rs374455045, rs769965398, rs966621865, rs757886838, rs764153521, rs199638531, rs1565519673, rs368050948, rs1565541888, rs773573968, rs1565536400	RCV002503291 RCV001809330 RCV002251127 RCV002463191 RCV002444382 RCV004786805 RCV004786838 RCV005357088 RCV004585136 RCV000454140 RCV005044882 RCV000681541 RCV000681543 RCV000681542 RCV000761611 RCV000770874
Bilateral sensorineural hearing impairment	Pathogenic	rs2135128814	RCV001730849
Deafness	Likely pathogenic; Pathogenic	rs1565522273	RCV000679840
Deafness, neurosensory autosomal recessive 21	Pathogenic	rs966621865, rs1591437831, rs1281790755	RCV000007430 RCV000007433 RCV000007434
Ear malformation	Likely pathogenic	rs2135060276	RCV001814387
Hearing impairment	Likely pathogenic; Pathogenic	rs1448260319, rs34851638, rs1057519150	RCV001375375 RCV001375374 RCV001375376
Hearing loss, autosomal recessive	Likely pathogenic; Pathogenic	rs1565522273, rs1565519673, rs368050948, rs1565541888, rs773573968	RCV001291354 RCV001291352 RCV001291355 RCV001291356 RCV001291353
Meniere disease	Likely pathogenic	rs2135120291	RCV002267783
Monogenic hearing loss	Likely pathogenic; Pathogenic	rs140236996, rs1330220728	RCV006270231 RCV006255177
Nonsyndromic genetic hearing loss	Likely pathogenic; Pathogenic	rs121909063, rs2496881864, rs199638531	RCV001544521 RCV004018256 RCV001089678
Rare genetic deafness	Likely pathogenic; Pathogenic	rs727503467, rs760574657, rs876657661, rs140236996, rs2496906689, rs2496992226, rs199638531, rs768295360, rs764424917, rs1555129231, rs1229070290, rs1591464171	RCV000151989 RCV000220688 RCV000214219 RCV000826186 RCV004018187 RCV004018206 RCV000602678 RCV000610814 RCV000612095 RCV000615704 RCV000826130 RCV000826050
See cases	Likely pathogenic; Pathogenic	rs140236996	RCV004584374
TECTA-related disorder	Likely pathogenic	rs1315696593, rs2496987091, rs2496881880	RCV003412344 RCV003402134 RCV003397451

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
-	no classification for the single variant	rs281865415	-
Clear cell carcinoma of kidney	Benign; Likely benign	rs516678	RCV005889998
Congenital sensorineural hearing impairment	Uncertain significance	rs758272613	RCV000626882
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs2496952296	RCV004557984
Gastric cancer	Benign	rs546916	RCV005918788
Lung cancer	Benign; Likely benign	rs516678	RCV005889999
Nonsyndromic Hearing Loss, Dominant	Benign; Likely benign; Uncertain significance	rs145916279, rs137951168, rs544916783, rs886047838, rs886047842	RCV000269720 RCV000338928 RCV000402031 RCV000372991 RCV000318041
Sensorineural hearing loss disorder	Conflicting classifications of pathogenicity	rs772606235	RCV000681522
Thyroid cancer, nonmedullary, 1	Likely benign	rs764755600	RCV005905729
Uterine carcinosarcoma	Benign	rs546916	RCV005918789

Associations from Text Mining
Disease Name	Relationship Type	References
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency	Associate	37927186
COVID 19	Associate	34322810
Deafness	Associate	22534022, 23226338, 23767834, 24586623, 24816743, 33976695, 34997062, 9150164
Deafness	Stimulate	23936151
Deafness Autosomal Dominant 12	Associate	37927186
Deafness autosomal dominant nonsyndromic sensorineural 22	Associate	24586623
Deafness Autosomal Recessive 21	Associate	28012541
Genetic Diseases Inborn	Associate	34795337
Hearing Loss	Associate	10739769, 16718611, 19888295, 21520338, 23936151, 24586623, 25008054, 28012541, 29293505, 30935366, 31554319, 32682410, 32864763, 34753855, 37927186, 9718342
Hearing Loss Conductive	Associate	24378291
Hearing Loss High Frequency	Associate	24816743, 31554319
Hearing Loss Sensorineural	Associate	16718611, 23936151, 28946916, 31554319, 35580552, 38254107
Hearing Loss Sensorineural	Stimulate	17136632
Herpes Zoster	Associate	34322810
Labyrinth Diseases	Associate	28012541
Melanoma	Associate	32241263
Nonsyndromic Deafness	Associate	10739769, 16718611, 17136632, 21520338, 23226338, 24586623, 24816743, 25008054, 28012541, 32864763, 36788145, 9150164
Nonsyndromic Deafness	Stimulate	21520338
Nonsyndromic sensorineural hearing loss	Associate	30935366, 32382995, 37927186
Presbycusis	Associate	31554319
Spasms Infantile	Associate	29667327