TECTA (tectorin alpha)

2014-01-01  

Identity

HGNC
LOCATION
11q23.3
LOCUSID
ALIAS
DFNA12,DFNA8,DFNB21
FUSION GENES

Other Information

Locus ID:

NCBI: 7007
MIM: 602574
HGNC: 11720
Ensembl: ENSG00000109927

Variants:

dbSNP: 7007
ClinVar: 7007
TCGA: ENSG00000109927
COSMIC: TECTA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000109927ENST00000264037O75443
ENSG00000109927ENST00000392793O75443
ENSG00000109927ENST00000642222A0A2R8YDL0
ENSG00000109927ENST00000645008A0A2R8YGQ5

Expression (GTEx)

0
1
2
3
4

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Post-translational modification: synthesis of GPI-anchored proteinsREACTOMER-HSA-163125

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
213681332011Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).52
201423292010Deficient forward transduction and enhanced reverse transduction in the alpha tectorin C1509G human hearing loss mutation.37
215203382011DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.24
153195412004A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations.20
174319022007Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus.20
207399422010Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.20
225447352012Loss of mammal-specific tectorial membrane component carcinoembryonic antigen cell adhesion molecule 16 (CEACAM16) leads to hearing impairment at low and high frequencies.20
167186112006A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation.19
113338692001A cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family.15
180222532008A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families.15

Citation

Dessen P

TECTA (tectorin alpha)

Atlas Genet Cytogenet Oncol Haematol. 2014-01-01

Online version: http://atlasgeneticsoncology.org/gene/53676/tecta