STRC

stereocilin

Basic information

Region (hg38): 15:43599563-43618800

Previous symbols: [ "DFNB16" ]

Links

ENSG00000242866

∙ NCBI:161497 ∙ OMIM:606440 ∙ HGNC:16035 ∙ Uniprot:Q7RTU9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

autosomal recessive nonsyndromic hearing loss 16 (Strong), mode of inheritance: AR
autosomal recessive nonsyndromic hearing loss 16 (Strong), mode of inheritance: AR
hearing loss, autosomal recessive (Supportive), mode of inheritance: AR
nonsyndromic genetic hearing loss (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Deafness, autosomal recessive 16	AR	Audiologic/Otolaryngologic	Early recognition and treatment of hearing impairment may improve outcomes, including speech and language development	Audiologic/Otolaryngologic	9429146; 10090914; 11687802; 21686705; 19246478

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the STRC gene.

Inborn_genetic_diseases (121 variants)
not_provided (81 variants)
Autosomal_recessive_nonsyndromic_hearing_loss_16 (70 variants)
not_specified (69 variants)
STRC-related_disorder (31 variants)
Rare_genetic_deafness (27 variants)
Deafness-infertility_syndrome (12 variants)
Spermatogenic_failure_7 (10 variants)
Monogenic_hearing_loss (3 variants)
Nonsyndromic_genetic_hearing_loss (2 variants)
nonsyndromic_sensorineural_hearing_loss (1 variants)
Hearing_impairment (1 variants)
Autosomal_dominant_nonsyndromic_hearing_loss_16 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the STRC gene is commonly pathogenic or not. These statistics are base on transcript: NM_000153700.2. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous		2 clinvar		19 clinvar	3 clinvar	24
missense		11 clinvar	168 clinvar	14 clinvar	1 clinvar	194
nonsense	22 clinvar	8 clinvar				30
start loss						0
frameshift	10 clinvar	11 clinvar	1 clinvar			22
splice donor/acceptor (+/-2bp)	2 clinvar	5 clinvar	1 clinvar			8
Total	34	37	170	33	4

Highest pathogenic variant AF is 0.0008405896

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
STRC	protein_coding	protein_coding	ENST00000450892	29	118863

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.77e-15	0.926	125552	0	196	125748	0.000780

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.27	374	450	0.832	0.0000234	11026
Missense in Polyphen		135	173.86	0.7765		4818
Synonymous	1.71	151	180	0.838	0.00000845	3952
Loss of Function	2.23	31	47.6	0.651	0.00000273	838

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00170	0.00168
Ashkenazi Jewish	0.00	0.00
East Asian	0.000330	0.000326
Finnish	0.000278	0.000277
European (Non-Finnish)	0.000849	0.000844
Middle Eastern	0.000330	0.000326
South Asian	0.00127	0.00127
Other	0.000816	0.000815

dbNSFP

Source: dbNSFP

Function: FUNCTION: Essential to the formation of horizontal top connectors between outer hair cell stereocilia. {ECO:0000250}.;
Disease: DISEASE: Deafness, autosomal recessive, 16 (DFNB16) [MIM:603720]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:11687802}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Deafness-infertility syndrome (DIS) [MIM:611102]: Characterized by deafness and infertility and is caused by large contiguous gene deletions at 15q15.3 that removes both STRC and CATSPER2 genes. {ECO:0000269|PubMed:17098888}. Note=The disease is caused by mutations affecting the gene represented in this entry.;

Haploinsufficiency Scores

pHI: 0.144
hipred: Y
hipred_score: 0.523
ghis: 0.422

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.109

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	High	Medium	High
Cancer	High	High	High

Mouse Genome Informatics

Gene name: Strc
Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hearing/vestibular/ear phenotype;

Gene ontology

Biological process: cell-matrix adhesion;detection of mechanical stimulus involved in sensory perception of sound;auditory receptor cell stereocilium organization
Cellular component: cell surface;stereocilium tip;kinocilium
Molecular function