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STRC stereocilin [ Homo sapiens (human) ]

Gene ID: 161497, updated on 3-Mar-2019

Summary

Official Symbol
STRCprovided by HGNC
Official Full Name
stereocilinprovided by HGNC
Primary source
HGNC:HGNC:16035
See related
Ensembl:ENSG00000242866 MIM:606440
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

Genomic context

See STRC in Genome Data Viewer
Location:
15q15.3
Exon count:
29
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (43599563..43618800, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (43891685..44002286, 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 PPIP5K1P1-CATSPER2 readthrough Neighboring gene cation channel sperm associated 2 Neighboring gene RNA, U6 small nuclear 610, pseudogene Neighboring gene protein disulfide isomerase family A member 3 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

General gene information

Markers

Homology

Clone Names

  • MGC156147

Gene Ontology Provided by GOA

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

NCBI Reference Sequences (RefSeq)

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_153700.2NP_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
    Q7RTU9
    Related
    ENSP00000401513.2, ENST00000450892.7

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

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