TECTA tectorin alpha [Homo sapiens (human)] - Gene

Summary

Official Symbol: TECTAprovided by HGNC
Official Full Name: tectorin alphaprovided by HGNC
Primary source: HGNC:HGNC:11720
See related: Ensembl:ENSG00000109927 MIM:602574; AllianceGenome:HGNC:11720
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DFNA8; DFNA12; DFNB21
Summary: 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]
Expression: Broad expression in brain (RPKM 1.1), testis (RPKM 0.6) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q23.3

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (121101243..121191490)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (121124974..121216595)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (120971952..121062199)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.
Title: Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.
Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families.
Title: Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families.
A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations.
Title: A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations.
homozygous c.1893C>A mutation of the TECTA gene probably underlies the proband's hearing loss which conformed to an autosomal recessive inheritance
Title: [Diagnosis and reproductive guidance for a couple carrying a novel c.1893C>T mutation of the TECTA gene].
TECTA mutations were identified in 6.0% of mid-frequency sensorineural hearing loss cases; these mutations were more frequent in patients with shallow U-shaped audiograms than those with U-shaped audiograms, and in families which have the family histories compatible with autosomal dominant than those with the family histories compatible with sporadic or autosomal recessive.
Title: Prevalence of TECTA mutation in patients with mid-frequency sensorineural hearing loss.
Up to now, merely 7 loci have been linked to mid-frequency hearing loss. Only four genetic mid-frequency deafness genes, namely, DFNA10 (EYA4), DFNA8/12 (TECTA), DFNA13 (COL11A2), DFNA44 (CCDC50), have been reported to date. [review]
Title: Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness.
A novel homozygous variant (c.734G > A) was found in exon 5 of the TECTA gene in one family leading to a nonsense mutation causing autosomal recessive nonsyndromic hearing loss.
Title: A novel TECTA mutation causes ARNSHL.
To our knowledge, this is the first reported TECTA mutation leading to the DFNB21 form of hearing impairment among Maghrebian individuals suffering from congenital hearing impairment
Title: A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family.
the present report suggest that the association of RWDD3 and TECTA with paclitaxel-induced peripheral neuropathy may have been a false positive signal
Title: RWDD3 and TECTA variants not linked to paclitaxel induced peripheral neuropathy in North American trial Alliance N08C1.
Here we confirm a known genotype-phenotype correlation for the ZP domain and propose a hypothetical genotype-phenotype correlation which relates mutations in vWFD3-D4 to stable high-frequency NSHL in Koreans.
Title: Novel TECTA mutations identified in stable sensorineural hearing loss and their clinical implications.

Submit: New GeneRIF Correction See all GeneRIFs (35)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal dominant nonsyndromic hearing loss 12 MedGen: C1832187 OMIM: 601543 GeneReviews: Genetic Hearing Loss Overview	Compare labs
Autosomal recessive nonsyndromic hearing loss 21 MedGen: C1863655 OMIM: 603629 GeneReviews: Genetic Hearing Loss Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH48885 (e-PCR)
- UniSTS:48166

G63105 (e-PCR)
- UniSTS:140080

D11S4107 (e-PCR)
- UniSTS:65645

D11S4089 (e-PCR), detects polymorphism
- UniSTS:20864

D11S3276 (e-PCR)
- UniSTS:152519

Readthrough TBCEL-TECTA

Readthrough gene: TBCEL-TECTA, Included gene: TBCEL

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables extracellular matrix structural constituent	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in auditory receptor cell stereocilium organization	IEA Inferred from Electronic Annotation more info
involved_in cell-matrix adhesion	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of sound	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	TAS Traceable Author Statement more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in side of membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: alpha-tectorin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011633.1 RefSeqGene

Range

3578..93825

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005422.4 → NP_005413.2 alpha-tectorin precursor

See identical proteins and their annotated locations for NP_005413.2

Status: REVIEWED

Source sequence(s)

AP000646, AP000826

Consensus CDS

CCDS8434.1

UniProtKB/Swiss-Prot

O75443

UniProtKB/TrEMBL

A0A2R8YDL0

Related

ENSP00000376543.1, ENST00000392793.6

Conserved Domains (10) summary

smart00216
Location:703 → 865

VWD; von Willebrand factor (vWF) type D domain

smart00241
Location:1805 → 2057

ZP; Zona pellucida (ZP) domain

smart00539
Location:98 → 254

NIDO; Extracellular domain of unknown function in nidogen (entactin) and hypothetical proteins

smart00832
Location:517 → 591

C8; This domain contains 8 conserved cysteine residues

pfam00094
Location:322 → 478

VWD; von Willebrand factor type D domain

pfam00100
Location:1937 → 2057

Zona_pellucida; Zona pellucida-like domain

pfam01826
Location:597 → 650

TIL; Trypsin Inhibitor like cysteine rich domain

pfam08742
Location:1298 → 1368

C8; C8 domain

pfam14670
Location:2089 → 2121

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl17735
Location:652 → 706

VWC; von Willebrand factor type C domain