Strc stereocilin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Strcprovided by MGI
Official Full Name: stereocilinprovided by MGI
Primary source: MGI:MGI:2153816
See related: Ensembl:ENSMUSG00000033498 AllianceGenome:MGI:2153816
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: DFNB16
Summary: Involved in auditory receptor cell stereocilium organization. Acts upstream of or within detection of mechanical stimulus involved in sensory perception of sound; inner ear receptor cell stereocilium organization; and protein localization. Located in kinocilium and stereocilium tip. Is expressed in cochlea; inner ear; semicircular duct ampulla; tectorial membrane; and utricle epithelium. Used to study autosomal recessive nonsyndromic deafness 16. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 16 and sensorineural hearing loss. Orthologous to several human genes including STRC (stereocilin). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 2 E5; 2 60.37 cM

Exon count:: 31

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (121193729..121211851, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (121363248..121381370, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane.
Title: Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane.
Stereocilin was detected in association with horizontal top connectors, lateral links that join adjacent stereocilia within the outer hair cell's hair bundle
Title: Stereocilin-deficient mice reveal the origin of cochlear waveform distortions.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Targeted (1) 1 citation

General gene information

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Markers

Z13968 (e-PCR)
- UniSTS:178696

ECD01483 (e-PCR)
- UniSTS:282586

D2Mit134 (e-PCR), detects polymorphism
- UniSTS:128994

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within auditory receptor cell stereocilium organization	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within auditory receptor cell stereocilium organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in auditory receptor cell stereocilium organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-matrix adhesion	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within detection of mechanical stimulus involved in sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner ear receptor cell stereocilium organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sensory perception of sound	ISO Inferred from Sequence Orthology more info	PubMed

Component	Evidence Code	Pubs
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
located_in cell surface	IEA Inferred from Electronic Annotation more info
is_active_in kinocilium	IBA Inferred from Biological aspect of Ancestor more info
located_in kinocilium	IDA Inferred from Direct Assay more info	PubMed
is_active_in stereocilium tip	IBA Inferred from Biological aspect of Ancestor more info
located_in stereocilium tip	IDA Inferred from Direct Assay more info	PubMed

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.