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 to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. Alpha-tectorin is one of the majo... See more...

Aliases for TECTA Gene

Aliases for TECTA Gene

  • Tectorin Alpha 2 3 5
  • Alpha-Tectorin 3 4
  • DFNA12 3
  • DFNB21 3
  • DFNA8 3
  • TECTA 5

External Ids for TECTA Gene

Previous HGNC Symbols for TECTA Gene

  • DFNA12
  • DFNA8
  • DFNB21

Previous GeneCards Identifiers for TECTA Gene

  • GC11P122972
  • GC11P122485
  • GC11P121007
  • GC11P120511
  • GC11P120478
  • GC11P116913

Summaries for TECTA Gene

Entrez Gene Summary for TECTA 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 to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. Alpha-tectorin is one of the major noncollagenous components of the tectorial membrane. Mutations in the TECTA gene have been shown to be responsible for autosomal dominant nonsyndromic hearing impairment and a recessive form of sensorineural pre-lingual non-syndromic deafness. [provided by RefSeq, Jul 2008]

GeneCards Summary for TECTA Gene

TECTA (Tectorin Alpha) is a Protein Coding gene. Diseases associated with TECTA include Deafness, Autosomal Dominant 12 and Deafness, Autosomal Recessive 21. Among its related pathways are Post-translational modification- synthesis of GPI-anchored proteins and Metabolism of proteins. An important paralog of this gene is FCGBP.

UniProtKB/Swiss-Prot Summary for TECTA Gene

  • 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 specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals.

Gene Wiki entry for TECTA Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TECTA Gene

Genomics for TECTA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TECTA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J121099 Enhancer 0.5 Ensembl 250.7 -1.3 -1342 0.6 FOXA2 ZNF316 FOSL2 FOXA1 MAFG MAFK BCL6B FOS TECTA HSALNG0087722 TBCEL-TECTA
GH11J121100 Enhancer 0.2 Ensembl 250.7 +0.3 258 2.2 TECTA TBCEL piR-39341-075 TBCEL-TECTA SC5D
GH11J121036 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 16.3 -62.9 -62942 7 ZNF600 YY1 FOXA1 FOXA2 RXRA SMAD4 SAP130 RARA TEAD3 THRB TBCEL TECTA TBCEL-TECTA HSALNG0087722
GH11J120347 Enhancer 1.1 ENCODE dbSUPER 16.1 -753.9 -753886 1.1 ZNF600 ZNF580 ATF2 ZSCAN16 NFIC ZIC2 ZBTB10 YY1 CEBPB FEZF1 TLCD5 TBCEL TECTA ARHGEF12 ENSG00000274303 GRIK4
GH11J121458 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 6.6 +362.9 362897 10.9 BCLAF1 SP1 ZNF600 SSRP1 JUND KLF9 POLR2A CEBPA ZNF10 ATF3 SC5D TECTA SORL1 ENSG00000246790 LOC105369535 BLID
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TECTA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TECTA

Top Transcription factor binding sites by QIAGEN in the TECTA gene promoter:
  • aMEF-2
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • GATA-2
  • MEF-2
  • MEF-2A

Genomic Locations for TECTA Gene

Latest Assembly
chr11:121,101,243-121,191,490
(GRCh38/hg38)
Size:
90,248 bases
Orientation:
Plus strand

Previous Assembly
chr11:120,971,952-121,062,199
(GRCh37/hg19 by Entrez Gene)
Size:
90,248 bases
Orientation:
Plus strand

chr11:120,971,882-121,062,202
(GRCh37/hg19 by Ensembl)
Size:
90,321 bases
Orientation:
Plus strand

Genomic View for TECTA Gene

Genes around TECTA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TECTA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TECTA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TECTA Gene

Proteins for TECTA Gene

  • Protein details for TECTA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75443-TECTA_HUMAN
    Recommended name:
    Alpha-tectorin
    Protein Accession:
    O75443

    Protein attributes for TECTA Gene

    Size:
    2155 amino acids
    Molecular mass:
    239527 Da
    Quaternary structure:
    • May form homomeric filament after self-association or heteromeric filament after association with beta-tectorin (Probable). Interacts with CEACAM16.

neXtProt entry for TECTA Gene

Post-translational modifications for TECTA Gene

  • The presence of a hydrophobic C-terminus preceded by a potential cleavage site strongly suggests that tectorins are synthesized as glycosylphosphatidylinositol-linked, membrane-bound precursors. Tectorins are targeted to the apical surface of the inner ear epithelia by the lipid and proteolytically released into the extracellular compartment.
  • Glycosylation at Asn34, Asn187, Asn215, Asn278, Asn455, Asn506, Asn528, Asn560, Asn670, Asn687, Asn813, Asn843, Asn855, Asn898, Asn920, Asn931, Asn949, Asn1048, Asn1235, Asn1364, Asn1538, Asn1565, Asn1756, Asn1772, Asn1794, Asn1851, Asn1864, Asn1880, Asn1920, and Asn1939
  • Modification sites at PhosphoSitePlus

Other Protein References for TECTA Gene

No data available for DME Specific Peptides for TECTA Gene

Domains & Families for TECTA Gene

Gene Families for TECTA Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for TECTA Gene

InterPro:
Blocks:
  • Coagulation factor 5/8 type C domain (FA58C)
  • Type I EGF
  • von Willebrand factor, type C
  • Von Willebrand factor, type D
  • Trypsin inhibitor-like, cysteine-rich TIL region
  • Nidogen, extracellular region
  • Endoglin/CD105 antigen

Suggested Antigen Peptide Sequences for TECTA Gene

GenScript: Design optimal peptide antigens:
  • Alpha-tectorin (TECTA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75443

UniProtKB/Swiss-Prot:

TECTA_HUMAN :
  • Zona pellucida domain may enable to form filaments.
Domain:
  • Zona pellucida domain may enable to form filaments.
genes like me logo Genes that share domains with TECTA: view

Function for TECTA Gene

Molecular function for TECTA Gene

UniProtKB/Swiss-Prot 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 specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals.
GENATLAS Biochemistry:
alpha tectorin,239kDa,non collagenous component of tectorial extracellular matrix membrane of the inner ear

Phenotypes From GWAS Catalog for TECTA Gene

Gene Ontology (GO) - Molecular Function for TECTA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent IEA --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with TECTA: view
genes like me logo Genes that share phenotypes with TECTA: view

Human Phenotype Ontology for TECTA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TECTA Gene

MGI Knock Outs for TECTA:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TECTA

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for TECTA Gene

Localization for TECTA Gene

Subcellular locations from UniProtKB/Swiss-Prot for TECTA Gene

Cell membrane. Lipid-anchor, GPI-anchor. Extracellular side. Secreted, extracellular space, extracellular matrix. Note=Found in the non-collagenous matrix of the tectorial membrane. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TECTA gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 0
lysosome 0

Gene Ontology (GO) - Cellular Components for TECTA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031012 extracellular matrix IEA --
genes like me logo Genes that share ontologies with TECTA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TECTA Gene

Pathways & Interactions for TECTA Gene

genes like me logo Genes that share pathways with TECTA: view

Gene Ontology (GO) - Biological Process for TECTA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007160 cell-matrix adhesion IEA --
GO:0007605 sensory perception of sound IEA --
genes like me logo Genes that share ontologies with TECTA: view

No data available for SIGNOR curated interactions for TECTA Gene

Drugs & Compounds for TECTA Gene

(1) Drugs for TECTA Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with TECTA: view

Transcripts for TECTA Gene

mRNA/cDNA for TECTA Gene

1 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TECTA

Alternative Splicing Database (ASD) splice patterns (SP) for TECTA Gene

No ASD Table

Relevant External Links for TECTA Gene

GeneLoc Exon Structure for
TECTA

Expression for TECTA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TECTA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TECTA Gene

This gene is overexpressed in Cervix (52.5) and Pancreatic juice (14.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TECTA Gene



Protein tissue co-expression partners for TECTA Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TECTA

SOURCE GeneReport for Unigene cluster for TECTA Gene:

Hs.248162

Phenotype-based relationships between genes and organs from Gene ORGANizer for TECTA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • outer ear
  • skull
Thorax:
  • heart
  • heart valve
Limb:
  • forearm
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with TECTA: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for TECTA Gene

Orthologs for TECTA Gene

This gene was present in the common ancestor of animals.

Orthologs for TECTA Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TECTA 29 30
  • 99.4 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TECTA 30
  • 93 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia TECTA 29 30
  • 91.09 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TECTA 29 30
  • 90.66 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tecta 29
  • 89.06 (n)
Mouse
(Mus musculus)
Mammalia Tecta 29 16 30
  • 88.75 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TECTA 30
  • 77 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TECTA 29 30
  • 77.07 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TECTA 30
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100490936 29
  • 72.3 (n)
African clawed frog
(Xenopus laevis)
Amphibia ID14 29
Zebrafish
(Danio rerio)
Actinopterygii LOC561355 29
  • 63.29 (n)
tecta 30
  • 60 (a)
OneToOne
Dr.18408 29
Fruit Fly
(Drosophila melanogaster)
Insecta cv-2 30
  • 18 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 26 (a)
OneToOne
Species where no ortholog for TECTA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for TECTA Gene

ENSEMBL:
Gene Tree for TECTA (if available)
TreeFam:
Gene Tree for TECTA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TECTA: view image
Alliance of Genome Resources:
Additional Orthologs for TECTA

Paralogs for TECTA Gene

(1) SIMAP similar genes for TECTA Gene using alignment to 2 proteins:

  • TECTA_HUMAN
  • L8E7S7_HUMAN
genes like me logo Genes that share paralogs with TECTA: view

Variants for TECTA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TECTA Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
1012594 Uncertain Significance: not provided 121,157,965(+) G/A
NM_005422.4(TECTA):c.4430G>A (p.Arg1477His)
MISSENSE
1027366 Likely Pathogenic: Deafness, autosomal dominant 12 121,166,704(+) G/A
NM_005422.4(TECTA):c.5510G>A (p.Cys1837Tyr)
MISSENSE
1028888 Uncertain Significance: Deafness, autosomal dominant 12 121,158,029(+) C/A
NM_005422.4(TECTA):c.4494C>A (p.Phe1498Leu)
MISSENSE
1032996 Uncertain Significance: Deafness, autosomal dominant 12 121,125,570(+) G/T
NM_005422.4(TECTA):c.1472G>T (p.Arg491Leu)
MISSENSE
1034175 Uncertain Significance: Deafness, autosomal dominant 12 121,130,118(+) G/A
NM_005422.4(TECTA):c.2848G>A (p.Glu950Lys)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TECTA Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TECTA Gene

Variant ID Type Subtype PubMed ID
dgv710e59 CNV duplication 20981092
esv25267 CNV loss 19812545
esv2745148 CNV deletion 23290073
esv2745149 CNV deletion 23290073
esv2745150 CNV deletion 23290073
esv3363345 CNV insertion 20981092
esv3419516 CNV duplication 20981092
nsv1069622 CNV deletion 25765185
nsv1126304 CNV deletion 24896259
nsv524 CNV deletion 18451855
nsv525 CNV insertion 18451855
nsv957380 CNV deletion 24416366

Variation tolerance for TECTA Gene

Residual Variation Intolerance Score: 2.65% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.14; 96.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TECTA Gene

Human Gene Mutation Database (HGMD)
TECTA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TECTA
Leiden Open Variation Database (LOVD)
TECTA

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TECTA Gene

Disorders for TECTA Gene

MalaCards: The human disease database

(46) MalaCards diseases for TECTA Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
deafness, autosomal dominant 12
  • dfna12
deafness, autosomal recessive 21
  • dfnb21
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
nonsyndromic hearing loss
  • isolated deafness
- elite association - COSMIC cancer census association via MalaCards
Search TECTA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TECTA_HUMAN
  • Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:10196713, ECO:0000269 PubMed:10987647, ECO:0000269 PubMed:12162770, ECO:0000269 PubMed:15319541, ECO:0000269 PubMed:16718611, ECO:0000269 PubMed:17661817, ECO:0000269 PubMed:20947814, ECO:0000269 PubMed:21520338, ECO:0000269 PubMed:9590290}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Deafness, autosomal recessive, 21 (DFNB21) [MIM:603629]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:12746400, ECO:0000269 PubMed:9949200}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for TECTA

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TECTA: view

No data available for Genatlas for TECTA Gene

Publications for TECTA Gene

  1. Association of clinical features with mutation of TECTA in a family with autosomal dominant hearing loss. (PMID: 12162770) Iwasaki S … Hoshino T (Archives of otolaryngology--head & neck surgery 2002) 3 4 22 40 72
  2. Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. (PMID: 9590290) Verhoeven K … Van Camp G (Nature genetics 1998) 2 3 4 22 72
  3. Two novel missense mutations in the TECTA gene in Korean families with autosomal dominant nonsyndromic hearing loss. (PMID: 20947814) Sagong B … Lee SH (Annals of clinical and laboratory science 2010) 3 4 40 72
  4. Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree. (PMID: 17661817) Meyer NC … Smith RJ (Clinical genetics 2007) 3 4 22 72
  5. A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation. (PMID: 16718611) Plantinga RF … Cremers CW (Journal of the Association for Research in Otolaryngology : JARO 2006) 3 4 22 72

Products for TECTA Gene

Sources for TECTA Gene