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    STRC stereocilin [ Homo sapiens (human) ]

    Gene ID: 161497, updated on 2-Nov-2024

    Summary

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    Official Symbol
    STRCprovided by HGNC
    Official Full Name
    stereocilinprovided by HGNC
    Primary source
    HGNC:HGNC:16035
    See related
    Ensembl:ENSG00000242866 MIM:606440; AllianceGenome:HGNC:16035
    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
    DFNB16
    Summary
    This gene encodes a protein that is associated with the hair bundle of the sensory hair cells in the inner ear. The hair bundle is composed of stiff microvilli called stereocilia and is involved with mechanoreception of sound waves. This gene is part of a tandem duplication on chromosome 15; the second copy is a pseudogene. Mutations in this gene cause autosomal recessive non-syndromic deafness. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in skin (RPKM 1.3), colon (RPKM 1.3) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See STRC in Genome Data Viewer
    Location:
    15q15.3
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (43599563..43618800, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (41406922..41426159, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (43891761..43910998, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene diphosphoinositol pentakisphosphate kinase 1 Neighboring gene creatine kinase, mitochondrial 1B Neighboring gene RNA, U6 small nuclear 554, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:43905197-43905696 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:43907535-43908408 Neighboring gene PPIP5K1P1-CATSPER2 readthrough Neighboring gene cation channel sperm associated 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9316 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9317 Neighboring gene RNA, U6 small nuclear 610, pseudogene Neighboring gene protein disulfide isomerase family A member 3 pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population. Marková SP, et al. Genet Test Mol Biomarkers, 2018 Feb. PMID 29425068
    2. A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22. Campbell DA, et al. J Med Genet, 1997 Dec. PMID 9429146, Free PMC Article
    3. Deafness locus DFNB16 is located on chromosome 15q13-q21 within a 5-cM interval flanked by markers D15S994 and D15S132. Villamar M, et al. Am J Hum Genet, 1999 Apr. PMID 10090914, Free PMC Article
    4. Hereditary deafness and phenotyping in humans. Bitner-Glindzicz M. Br Med Bull, 2002. PMID 12324385
    5. Sequence similarity between stereocilin and otoancorin points to a unified mechanism for mechanotransduction in the mammalian inner ear. Jovine L, et al. BMC Cell Biol, 2002 Nov 25. PMID 12445334, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients.
      Title: Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients.
    2. Dispersed DNA variants underlie hearing loss in South Florida's minority population.
      Title: Dispersed DNA variants underlie hearing loss in South Florida's minority population.
    3. Behavioral characterization of the cochlear amplifier lesion due to loss of function of stereocilin (STRC) in human subjects.
      Title: Behavioral characterization of the cochlear amplifier lesion due to loss of function of stereocilin (STRC) in human subjects.
    4. Recurrent benign paroxysmal positional vertigo in two DFNB16 siblings: A CARE case report.
      Title: Recurrent benign paroxysmal positional vertigo in two DFNB16 siblings: A CARE case report.
    5. Recurrent Benign Paroxysmal Positional Vertigo in DFNB16 Patients with Biallelic STRC Gene Deletions.
      Title: Recurrent Benign Paroxysmal Positional Vertigo in DFNB16 Patients with Biallelic STRC Gene Deletions.
    6. Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.
      Title: Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.
    7. Spectrum 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.
      Title: Spectrum 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.
    8. Clinical features of hearing loss caused by STRC gene deletions/mutations in Russian population.
      Title: Clinical features of hearing loss caused by STRC gene deletions/mutations in Russian population.
    9. Frequency and clinical features of hearing loss caused by STRC deletions.
      Title: Frequency and clinical features of hearing loss caused by STRC deletions.
    10. [Hearing loss due to mutations or lack of the gene coding protein stereocillin].", trans "Narushenie slukha pri mutatsiyakh ili otsutstvii gena, kodiruyushchego belok stereotsilin.
      Title: [Hearing loss due to mutations or lack of the gene coding protein stereocillin].
    Submit: New GeneRIF Correction See all GeneRIFs (19)

    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 recessive nonsyndromic hearing loss 16
    MedGen: C1863561 OMIM: 603720 GeneReviews: Genetic Hearing Loss Overview, STRC-Related Autosomal Recessive Hearing Loss
    		not available
    Deafness-infertility syndrome
    MedGen: C1970187 OMIM: 611102 GeneReviews: STRC-Related Autosomal Recessive Hearing Loss
    		not available
    Spermatogenic failure 7
    MedGen: C2751811 OMIM: 612997 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC156147

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in auditory receptor cell stereocilium organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cell-matrix adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in detection of mechanical stimulus involved in sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein localization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in kinocilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in kinocilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in stereocilium tip IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in stereocilium tip ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    stereocilin

    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

    1. NG_011636.1 RefSeqGene

      Range
      5001..24238
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_153700.2 → NP_714544.1  stereocilin precursor

      See identical proteins and their annotated locations for NP_714544.1

      Status: REVIEWED

      Source sequence(s)
      BK000138
      Consensus CDS
      CCDS10098.1
      UniProtKB/Swiss-Prot
      A6NGW2, Q7RTU9
      Related
      ENSP00000401513.2, ENST00000450892.7

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      43599563..43618800 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      41406922..41426159 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7RTU9.1 GenPept UniProtKB/Swiss-Prot:Q7RTU9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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