TECTA

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

TECTA
Identifiers
Aliases	TECTA, DFNA12, DFNA8, DFNB21, tectorin alpha
External IDs	OMIM: 602574 MGI: 109575 HomoloGene: 3955 GeneCards: TECTA
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q23.3 Start 121,101,173 bp[1] End 121,191,493 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9 A5.1|9 23.63 cM Start 42,329,619 bp[2] End 42,399,929 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • extracellular matrix structural constituent Cellular component • anchored component of membrane • extracellular exosome • membrane • extracellular region • cell membrane • extracellular matrix • collagen-containing extracellular matrix Biological process • cell-matrix adhesion • sensory perception of sound • 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: 42.33 – 42.4 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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. 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.