TECTA

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)
End	121,191,490 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	42,311,225 bp
RNA expression pattern
	Top expressed in
	oocyte; ; secondary oocyte; ; parietal lobe; ; postcentral gyrus; ; superior frontal gyrus; ; superior vestibular nucleus; ; pons; ; Brodmann area 23; ; ganglionic eminence; ; putamen;
	Top expressed in
	utricle; ; saccule; ; petrous part of the temporal bone; ; cochlea; ; entorhinal cortex; ; soleus muscle; ; gastrocnemius muscle; ; retina; ; muscle tissue; ; striated muscle tissue;
	More reference expression data
	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 ; sensory perception of sound ; C-terminal protein lipidation ;
	Sources:Amigo / QuickGO
Orthologs
	7007
	21683
	ENSG00000109927
	ENSMUSG00000037705
	O75443
	O08523
	NM_005422
	NM_009347 ; NM_001324548 ; NM_001378602
	NP_005413
	NP_001311477 ; NP_033373 ; NP_001365531
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated March 04, 2023

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]

Related Research Articles

Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body. Genetic changes are related to the following types of nonsyndromic deafness.

Gap junction beta-2 protein (GJB2), also known as connexin 26 (Cx26) — is a protein that in humans is encoded by the GJB2 gene.

Cadherin-23 is a protein that in humans is encoded by the CDH23 gene.

Wolframin is a protein that in humans is encoded by the WFS1 gene.

Gap junction beta-3 protein (GJB3), also known as connexin 31 (Cx31) — is a protein that in humans is encoded by the GJB3 gene.

Collagen alpha-1(XI) chain is a protein that in humans is encoded by the COL11A1 gene.

Transmembrane protease, serine 3 is an enzyme that in humans is encoded by the TMPRSS3 gene.

Collagen alpha-3(IX) chain is a protein that in humans is encoded by the COL9A3 gene.

Potassium voltage-gated channel subfamily KQT member 4, also known as voltage-gated potassium channel subunit K_v7.4, is a protein that in humans is encoded by the KCNQ4 gene.

Non-syndromic hearing impairment protein 5 is a protein that in humans is encoded by the DFNA5 gene.

Myosin-14 is a protein that in humans is encoded by the MYH14 gene.

Eyes absent homolog 4 is a protein that in humans is encoded by the EYA4 gene.

Coiled-coil domain-containing protein 50 is a protein that in humans is encoded by the CCDC50 gene.

Transmembrane channel-like protein 1 is a protein that in humans is encoded by the TMC1 gene. TMC1 contains six transmembrane domains with both the C and N termini on the endoplasmic side of the membrane, as well as a large loop between domains 4 and 5. This topology is similar to that of transient receptor potential channels (TRPs), a family of proteins involved in the perception of senses such as temperature, taste, pressure, and vision. TMC1 has been located in the post-natal mouse cochlea, and knockouts for TMC1 and TMC2 result in both auditory and vestibular deficits indicating TMC1 is a molecular part of auditory transduction.

Stereocilin is a protein that in humans is encoded by the STRC gene.

Myosin-XV is a protein that in humans is encoded by the MYO15A gene.

miR-96 microRNA precursor is a small non-coding RNA that regulates gene expression. microRNAs are transcribed as ~80 nucleotide precursors and subsequently processed by the Dicer enzyme to give a ~23 nucleotide products. In this case the mature sequence comes from the 5′ arm of the precursor. The mature products are thought to have regulatory roles through complementarity to mRNA.

Vesicular glutamate transporter 3 (VGLUT3) is a protein that in humans is encoded by the SLC17A8 gene.

Espin, also known as autosomal recessive deafness type 36 protein or ectoplasmic specialization protein, is a protein that in humans is encoded by the ESPN gene. Espin is a microfilament binding protein.

Pejvakin is a protein that in humans is encoded by the PJVK gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000109927 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000037705 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
↑ 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.
1 2 "Entrez Gene: TECTA tectorin alpha".

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.

This article on a gene on human chromosome 11 is a stub. You can help Wikipedia by expanding it.

This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000109927 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid9503015-5] 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.

[pmid9590290-6] 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.

[entrez-7] 1 2 "Entrez Gene: TECTA tectorin alpha".

[1]

[2]

[3]

[4]

[5]

[6]

[7]

TECTA

Related Research Articles

References

Further reading