TECTA

For Tecta, a brand of a proton pump inhibitor drug, see Pantoprazole.

TECTA
Identifiers
Aliases	TECTA , DFNA12, DFNA8, DFNB21, tectorin alpha
External IDs	OMIM: 602574; MGI: 109575; HomoloGene: 3955; GeneCards: TECTA; OMA:TECTA - orthologs
Gene location (Human) Chr. Chromosome 11 (human) [1] Band 11q23.3 Start 121,101,243 bp [1] End 121,191,490 bp [1]
Gene location (Mouse) Chr. Chromosome 9 (mouse) [2] Band 9 A5.1|9 23.63 cM Start 42,240,915 bp [2] End 42,311,225 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in oocyte secondary oocyte testicle parietal lobe postcentral gyrus superior frontal gyrus superior vestibular nucleus pons Brodmann area 23 ventricular zone Top expressed in vestibular sensory epithelium utricle saccule lumbar spinal ganglion epithelium of macula of saccule of membranous labyrinth petrous part of the temporal bone cochlea epithelium of macula of utricle of membranous labyrinth embryo entorhinal cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function extracellular matrix structural constituent Cellular component anchored component of membrane extracellular exosome membrane extracellular region plasma membrane extracellular matrix collagen-containing extracellular matrix Biological process cell-matrix adhesion hearing C-terminal protein lipidation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7007 21683 Ensembl ENSG00000109927 ENSMUSG00000037705 UniProt O75443 O08523 RefSeq (mRNA) NM_005422 NM_009347 NM_001324548 NM_001378602 RefSeq (protein) NP_005413 NP_001311477 NP_033373 NP_001365531 Location (UCSC) Chr 11: 121.1 – 121.19 Mb Chr 9: 42.24 – 42.31 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Alpha-tectorin is a protein that in humans is encoded by the TECTA gene. ^{[5] [6] [7]}

The tectorial membrane is an apical extracellular matrix (aECM) 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. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000109927 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000037705 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Hughes DC, Legan PK, Steel KP, Richardson GP (Apr 1998). "Mapping of the alpha-tectorin gene (TECTA) to mouse chromosome 9 and human chromosome 11: a candidate for human autosomal dominant nonsyndromic deafness". Genomics. 48 (1): 46–51. doi:10.1006/geno.1997.5159. PMID   9503015.
6. Verhoeven K, Van Laer L, Kirschhofer K, Legan PK, Hughes DC, Schatteman I, Verstreken M, Van Hauwe P, Coucke P, Chen A, Smith RJ, Somers T, Offeciers FE, Van de Heyning P, Richardson GP, Wachtler F, Kimberling WJ, Willems PJ, Govaerts PJ, Van Camp G (May 1998). "Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment". Nat Genet. 19 (1): 60–2. doi:10.1038/ng0598-60. PMID   9590290. S2CID   24814696.
7. "Entrez Gene: TECTA tectorin alpha".

Further reading

• Van Camp G, Willems PJ, Smith RJ (1997). "Nonsyndromic hearing impairment: unparalleled heterogeneity". Am. J. Hum. Genet. 60 (4): 758–64. PMC   1712474 . PMID   9106521.
• Verhoeven K, Van Camp G, Govaerts PJ, et al. (1997). "A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24". Am. J. Hum. Genet. 60 (5): 1168–73. PMC   1712440 . PMID   9150164.
• Balciuniene J, Dahl N, Borg E, et al. (1998). "Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family". Am. J. Hum. Genet. 63 (3): 786–93. doi:10.1086/302012. PMC   1377400 . PMID   9718342.
• Mustapha M, Weil D, Chardenoux S, et al. (1999). "An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21". Hum. Mol. Genet. 8 (3): 409–12. doi: 10.1093/hmg/8.3.409 . PMID   9949200.
• Alloisio N, Morlé L, Bozon M, et al. (1999). "Mutation in the zonadhesin-like domain of alpha-tectorin associated with autosomal dominant non-syndromic hearing loss". Eur. J. Hum. Genet. 7 (2): 255–8. doi: 10.1038/sj.ejhg.5200273 . PMID   10196713.
• Balciuniene J, Dahl N, Jalonen P, et al. (2000). "Alpha-tectorin involvement in hearing disabilities: one gene--two phenotypes". Hum. Genet. 105 (3): 211–6. doi:10.1007/s004390051091 (inactive 1 November 2024). PMID   10987647.
• Moreno-Pelayo MA, del Castillo I, Villamar M, et al. (2001). "A cysteine substitution in the zona pellucida domain of α-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family". J. Med. Genet. 38 (5): E13. doi:10.1136/jmg.38.5.e13. PMC   1734870 . PMID   11333869.
• Iwasaki S, Harada D, Usami S, et al. (2002). "Association of clinical features with mutation of TECTA in a family with autosomal dominant hearing loss". Arch. Otolaryngol. Head Neck Surg. 128 (8): 913–7. doi: 10.1001/archotol.128.8.913 . PMID   12162770.
• Naz S, Alasti F, Mowjoodi A, et al. (2003). "Distinctive audiometric profile associated with DFNB21 alleles of TECTA". J. Med. Genet. 40 (5): 360–3. doi:10.1136/jmg.40.5.360. PMC   1735454 . PMID   12746400.
• Pfister M, Thiele H, Van Camp G, et al. (2005). "A genotype–phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations". Cell. Physiol. Biochem. 14 (4–6): 369–76. doi:10.1159/000080347. PMID   15319541. S2CID   42513598.
• Plantinga RF, de Brouwer AP, Huygen PL, et al. (2006). "A Novel TECTA Mutation in a Dutch DFNA8/12 Family Confirms Genotype–Phenotype Correlation". J. Assoc. Res. Otolaryngol. 7 (2): 173–81. doi:10.1007/s10162-006-0033-z. PMC   2504577 . PMID   16718611.
• Plantinga RF, Cremers CW, Huygen PL, et al. (2007). "Audiological Evaluation of Affected Members from a Dutch DFNA8/12 (TECTA) Family". J. Assoc. Res. Otolaryngol. 8 (1): 1–7. doi:10.1007/s10162-006-0060-9. PMC   2538417 . PMID   17136632.
• Meyer NC, Alasti F, Nishimura CJ, et al. (2007). "Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus". Am. J. Med. Genet. A. 143 (14): 1623–9. doi:10.1002/ajmg.a.31718. PMID   17431902. S2CID   31657425.
• Meyer NC, Nishimura CJ, McMordie S, Smith RJ (2007). "Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree". Clin. Genet. 72 (2): 130–7. doi:10.1111/j.1399-0004.2007.00828.x. PMID   17661817. S2CID   38393510.