STRC (stereocilin)

2014-11-01  

Identity

HGNC
LOCATION
15q15.3
LOCUSID
ALIAS
DFNB16

Other Information

Locus ID:

NCBI: 161497
MIM: 606440
HGNC: 16035
Ensembl: ENSG00000242866

Variants:

dbSNP: 161497
ClinVar: 161497
TCGA: ENSG00000242866
COSMIC: STRC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000242866ENST00000428650E9PBT5
ENSG00000242866ENST00000432436H7C2Q6
ENSG00000242866ENST00000440125E7EPM8
ENSG00000242866ENST00000450892Q7RTU9
ENSG00000242866ENST00000455136H7C0F7
ENSG00000242866ENST00000541030F5GXA4

Expression (GTEx)

0
5
10
15
20

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
365265402023Recurrent benign paroxysmal positional vertigo in two DFNB16 siblings: A CARE case report.0
367647062023Recurrent Benign Paroxysmal Positional Vertigo in DFNB16 Patients with Biallelic STRC Gene Deletions.1
378902412023Behavioral characterization of the cochlear amplifier lesion due to loss of function of stereocilin (STRC) in human subjects.0
379968782023Dispersed DNA variants underlie hearing loss in South Florida's minority population.3
365265402023Recurrent benign paroxysmal positional vertigo in two DFNB16 siblings: A CARE case report.0
367647062023Recurrent Benign Paroxysmal Positional Vertigo in DFNB16 Patients with Biallelic STRC Gene Deletions.1
378902412023Behavioral characterization of the cochlear amplifier lesion due to loss of function of stereocilin (STRC) in human subjects.0
379968782023Dispersed DNA variants underlie hearing loss in South Florida's minority population.3
350225562022Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients.7
350225562022Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients.7
344404522021Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.6
344404522021Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.6
324763832020[Hearing loss due to mutations or lack of the gene coding protein stereocillin].0
327059922020Clinical features of hearing loss caused by STRC gene deletions/mutations in Russian population.7
328602232020Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by gene panel NGS and whole-exome sequencing.18

Citation

Dessen P

STRC (stereocilin)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74327/strc-(stereocilin)