Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	7007
Gene name Gene Name - the full gene name approved by the HGNC.	Tectorin alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TECTA
Synonyms (NCBI Gene) Gene synonyms aliases	DFNA12, DFNA8, DFNB21
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q23.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(52)

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

Show/Hide all(16)

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

MIM	HGNC	e!Ensembl
602574	11720	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

Interactions

View interactions

	Reactome
			Post-translational modification: synthesis of GPI-anchored proteins

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Deafness	Deafness, neurosensory autosomal recessive 21, Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12	rs1591437831, rs1281790755, rs1565519673, rs121909061, rs121909063, rs368050948, rs1591462832, rs753896285, rs1565541888, rs140236996, rs121909058, rs878853224, rs773573968, rs966621865, rs121909059 View all (4 more)	N/A
hearing impairment	Hearing impairment	rs1057519150	N/A
Hearing Loss	Hearing loss, autosomal recessive	rs1565522273, rs1565519673, rs368050948, rs1565541888, rs773573968	N/A
deafness	Deafness	rs1565522273	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Meniere Disease	meniere disease	N/A	N/A	ClinVar
Nonsyndromic Deafness	Nonsyndromic Hearing Loss, Dominant	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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 View all (1 more)
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

TECTA (tectorin alpha)