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Aliases for TECTA Gene

Aliases for TECTA Gene

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

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 8/12 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 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 , fRNAdb sequence ontologies and piRNA Summary for TECTA Gene

Genomics for TECTA Gene

Regulatory Elements for TECTA Gene

Enhancers for TECTA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G120347 1.3 ENCODE dbSUPER 16.1 -753.8 -753816 1.1 PKNOX1 ARID4B FEZF1 ZNF2 YY1 ZNF302 SP5 MXD4 REST ZNF662 TMEM136 TBCEL TECTA THY1 ARHGEF12 PIR31602
GH11G121194 0.9 Ensembl ENCODE 15.7 +93.8 93793 0.5 CTCF ZNF654 TRIM22 REST ZNF2 RAD21 SMARCA4 SMC3 ZNF143 TECTA GC11P121190 LOC105369533
GH11G121458 2 FANTOM5 Ensembl ENCODE dbSUPER 6.6 +363.0 362967 10.9 HDGF PKNOX1 FOXA2 MLX ZFP64 WRNIP1 ARID4B SIN3A DMAP1 YY1 SC5D TECTA SORL1 GC11M121459 GC11M121471
GH11G121038 0.8 ENCODE 15.4 -61.6 -61634 1.9 ELF3 SOX13 TFAP4 FOXA2 ATF1 SAP130 ARID4B THRB RARA ZNF7 TECTA TBCEL GC11P121063
GH11G120956 0.8 Ensembl ENCODE 11.1 -143.8 -143754 1.5 RFX1 POU5F1 CEBPB ETS1 TECTA LOC101929208 HMGB1P42
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TECTA on UCSC Golden Path with GeneCards custom track

Genomic Location for TECTA Gene

Chromosome:
11
Start:
121,101,173 bp from pter
End:
121,191,493 bp from pter
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. 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 posLast=3434, Asn187, posLast=215215, isoforms=278, isoforms=455, Asn506, isoforms=528, posLast=560560, Asn670, posLast=687687, isoforms=813, isoforms=843, Asn855, isoforms=898, isoforms=920, Asn931, posLast=949949, posLast=10481048, Asn1235, isoforms=1364, posLast=15381538, isoforms=1565, posLast=17561756, Asn1772, Asn1794, Asn1851, isoforms=1864, Asn1880, Asn1920, and Asn1939
  • Modification sites at PhosphoSitePlus

Other Protein References for TECTA Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TECTA Gene

Domains & Families for TECTA Gene

Gene Families for TECTA Gene

Suggested Antigen Peptide Sequences for TECTA Gene

GenScript: Design optimal peptide antigens:

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

GENATLAS Biochemistry:
alpha tectorin,239kDa,non collagenous component of tectorial extracellular matrix membrane of the inner ear
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.

Gene Ontology (GO) - Molecular Function for TECTA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent 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:

Animal Model Products

Inhibitory RNA Products

Clone Products

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 5
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for TECTA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0031225 anchored component of membrane IEA --
genes like me logo Genes that share ontologies with TECTA: view

Pathways & Interactions for TECTA Gene

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

Interacting Proteins for TECTA Gene

Gene Ontology (GO) - Biological Process for TECTA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006501 C-terminal protein lipidation TAS --
GO:0007160 cell-matrix adhesion IEA --
GO:0007605 sensory perception of sound IEA,TAS --
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) Additional mRNA sequences :
(15) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TECTA Gene

Tectorin alpha:
Representative Sequences:

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for TECTA Gene

GeneLoc Exon Structure for
TECTA
ECgene alternative splicing isoforms for
TECTA

Expression for TECTA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for TECTA Gene



Protein tissue co-expression partners for TECTA Gene

NURSA nuclear receptor signaling pathways regulating expression of TECTA Gene:

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
Organs:
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

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 34 35
  • 99.4 (n)
oppossum
(Monodelphis domestica)
Mammalia TECTA 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TECTA 34 35
  • 91.09 (n)
cow
(Bos Taurus)
Mammalia TECTA 34 35
  • 90.66 (n)
rat
(Rattus norvegicus)
Mammalia Tecta 34
  • 89.06 (n)
mouse
(Mus musculus)
Mammalia Tecta 34 16 35
  • 88.75 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TECTA 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves TECTA 34 35
  • 77.07 (n)
lizard
(Anolis carolinensis)
Reptilia TECTA 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490936 34
  • 72.3 (n)
African clawed frog
(Xenopus laevis)
Amphibia ID14 34
zebrafish
(Danio rerio)
Actinopterygii LOC561355 34
  • 63.29 (n)
tecta 35
  • 60 (a)
OneToOne
Dr.18408 34
fruit fly
(Drosophila melanogaster)
Insecta cv-2 35
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 26 (a)
OneToOne
Species where no ortholog for TECTA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for TECTA Gene

Paralogs for TECTA Gene

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

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

Variants for TECTA Gene

Sequence variations from dbSNP and Humsavar for TECTA Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs111759871 Uncertain significance, Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] 121,129,714(+) CAGTA(C/T)GACAG reference, missense
rs121909059 Pathogenic, Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] 121,137,648(+) TGGAC(A/T)GCCAG reference, missense
rs121909061 Pathogenic, Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543], Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] 121,166,703(+) GACAG(C/G/T)GCACC reference, missense
rs121909062 Pathogenic, Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] 121,187,894(+) CTGTC(A/G)CTTTC reference, missense
rs121909063 Pathogenic, Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543] 121,168,135(+) GGGAC(C/T)GCACG reference, missense

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)

Relevant External Links for TECTA Gene

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

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

Disorders for TECTA Gene

MalaCards: The human disease database

(17) MalaCards diseases for TECTA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal dominant 8/12
  • deafness, autosomal dominant, 12
deafness, autosomal recessive 21
  • autosomal recessive nonsyndromic deafness 21
nonsyndromic hearing loss and deafness
nonsyndromic deafness
  • nonsyndromic hearing loss
dfna 8/12 nonsyndromic hearing loss and deafness
  • dfna 12
- 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 mutations 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 mutations affecting the gene represented in this entry.

Relevant External Links for TECTA

Genetic Association Database (GAD)
TECTA
Human Genome Epidemiology (HuGE) Navigator
TECTA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TECTA
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. (Arch. Otolaryngol. Head Neck Surg. 2002) 3 4 22 46 64
  2. Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. (PMID: 9590290) Verhoeven K. … Van Camp G. (Nat. Genet. 1998) 2 3 4 22 64
  3. Two novel missense mutations in the TECTA gene in Korean families with autosomal dominant nonsyndromic hearing loss. (PMID: 20947814) Sagong B. … Lee S.H. (Ann. Clin. Lab. Sci. 2010) 3 4 46 64
  4. Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree. (PMID: 17661817) Meyer N.C. … Smith R.J. (Clin. Genet. 2007) 3 4 22 64
  5. A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype- phenotype correlation. (PMID: 16718611) Plantinga R.F. … Cremers C.W. (J. Assoc. Res. Otolaryngol. 2006) 3 4 22 64

Products for TECTA Gene

Sources for TECTA Gene

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