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
221475022012Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment.34
260116462015DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics.21
274691362016Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.8
289848102017STRC Deletion is a Frequent Cause of Slight to Moderate Congenital Hearing Impairment in the Czech Republic.7
294250682018STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population.2
312188512019Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints.1
267466172016Identification of a nonsense mutation in the STRC gene in a Korean family with moderate hearing loss.0
302500542018Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype.0
315525242019Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene.0

Citation

Dessen P

STRC (stereocilin)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74327/strc