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Aliases for STRC Gene

Aliases for STRC Gene

  • Stereocilin 2 3 5
  • DFNB16 3

External Ids for STRC Gene

Previous HGNC Symbols for STRC Gene

  • DFNB16

Previous GeneCards Identifiers for STRC Gene

  • GC15U990014
  • GC15M036787
  • GC15M041470
  • GC15M041607
  • GC15M041679
  • GC15M043892

Summaries for STRC Gene

Entrez Gene Summary for STRC Gene

  • 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]

GeneCards Summary for STRC Gene

STRC (Stereocilin) is a Protein Coding gene. Diseases associated with STRC include deafness, autosomal recessive 16 and deafness-infertility syndrome. An important paralog of this gene is OTOA.

UniProtKB/Swiss-Prot for STRC Gene

  • Essential to the formation of horizontal top connectors between outer hair cell stereocilia.

Gene Wiki entry for STRC Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STRC Gene

Genomics for STRC Gene

Regulatory Elements for STRC Gene

Enhancers for STRC Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around STRC on UCSC Golden Path with GeneCards custom track

Genomic Location for STRC Gene

Chromosome:
15
Start:
43,599,243 bp from pter
End:
43,711,486 bp from pter
Size:
112,244 bases
Orientation:
Minus strand

Genomic View for STRC Gene

Genes around STRC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STRC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STRC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STRC Gene

Proteins for STRC Gene

  • Protein details for STRC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7RTU9-STRC_HUMAN
    Recommended name:
    Stereocilin
    Protein Accession:
    Q7RTU9

    Protein attributes for STRC Gene

    Size:
    1775 amino acids
    Molecular mass:
    192967 Da
    Quaternary structure:
    No Data Available

neXtProt entry for STRC Gene

Proteomics data for STRC Gene at MOPED

Post-translational modifications for STRC Gene

  • Glycosylation at Asn 65, Asn 202, Asn 297, Asn 366, Asn 427, Asn 476, Asn 540, Asn 565, Asn 656, Asn 824, Asn 916, Asn 964, Asn 1179, and Asn 1274
  • Modification sites at PhosphoSitePlus

Other Protein References for STRC Gene

No data available for DME Specific Peptides for STRC Gene

Domains & Families for STRC Gene

Protein Domains for STRC Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for STRC Gene

Graphical View of Domain Structure for InterPro Entry

Q7RTU9

UniProtKB/Swiss-Prot:

STRC_HUMAN :
  • Belongs to the stereocilin family.
Family:
  • Belongs to the stereocilin family.
genes like me logo Genes that share domains with STRC: view

No data available for Gene Families for STRC Gene

Function for STRC Gene

Molecular function for STRC Gene

UniProtKB/Swiss-Prot Function:
Essential to the formation of horizontal top connectors between outer hair cell stereocilia.
genes like me logo Genes that share phenotypes with STRC: view

Human Phenotype Ontology for STRC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for STRC Gene

MGI Knock Outs for STRC:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for STRC Gene

Localization for STRC Gene

Subcellular locations from UniProtKB/Swiss-Prot for STRC Gene

Cell surface. Cell projection, kinocilium. Cell projection, stereocilium.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for STRC Gene COMPARTMENTS Subcellular localization image for STRC gene
Compartment Confidence
extracellular 3
plasma membrane 3
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for STRC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032426 stereocilium tip IEA,ISS --
genes like me logo Genes that share ontologies with STRC: view

Pathways & Interactions for STRC Gene

SuperPathways for STRC Gene

No Data Available

Interacting Proteins for STRC Gene

Gene Ontology (GO) - Biological Process for STRC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0050910 detection of mechanical stimulus involved in sensory perception of sound IEA --
GO:0060088 auditory receptor cell stereocilium organization IEA,ISS --
genes like me logo Genes that share ontologies with STRC: view

No data available for Pathways by source and SIGNOR curated interactions for STRC Gene

Drugs & Compounds for STRC Gene

No Compound Related Data Available

Transcripts for STRC Gene

mRNA/cDNA for STRC Gene

Unigene Clusters for STRC Gene

Stereocilin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for STRC Gene

No ASD Table

Relevant External Links for STRC Gene

GeneLoc Exon Structure for
STRC
ECgene alternative splicing isoforms for
STRC

Expression for STRC Gene

mRNA expression in normal human tissues for STRC Gene

mRNA differential expression in normal tissues according to GTEx for STRC Gene

This gene is overexpressed in Brain - Cerebellum (x15.4) and Brain - Cerebellar Hemisphere (x12.7).

Protein differential expression in normal tissues from HIPED for STRC Gene

This gene is overexpressed in CD4 Tcells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for STRC Gene



SOURCE GeneReport for Unigene cluster for STRC Gene Hs.657395

genes like me logo Genes that share expression patterns with STRC: view

Protein tissue co-expression partners for STRC Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for STRC Gene

Orthologs for STRC Gene

This gene was present in the common ancestor of chordates.

Orthologs for STRC Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia STRC 35
  • 89.36 (n)
  • 91.09 (a)
STRC 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia STRC 35
  • 90.21 (n)
  • 91.87 (a)
STRC 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Strc 35
  • 86.46 (n)
  • 88.16 (a)
Strc 16
Strc 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LOC100608534 35
  • 99.23 (n)
  • 98.98 (a)
STRC 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Strc 35
  • 86.15 (n)
  • 87.94 (a)
oppossum
(Monodelphis domestica)
Mammalia STRC 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 60 (a)
OneToMany
-- 36
  • 78 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia strc 35
  • 49.08 (n)
  • 39.16 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100004499 35
  • 46.7 (n)
  • 36.87 (a)
STRC 36
  • 34 (a)
OneToOne
Species with no ortholog for STRC:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for STRC Gene

ENSEMBL:
Gene Tree for STRC (if available)
TreeFam:
Gene Tree for STRC (if available)

Paralogs for STRC Gene

Paralogs for STRC Gene

(1) SIMAP similar genes for STRC Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for STRC Gene

genes like me logo Genes that share paralogs with STRC: view

Variants for STRC Gene

Sequence variations from dbSNP and Humsavar for STRC Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs2920791 - 43,600,609(+) TACAA(A/G)TAGGT reference, missense
rs12050645 -- 43,602,295(+) cctac(C/T)ccagc intron-variant
rs12437957 -- 43,600,695(+) ACAGT(A/G)GGAAG intron-variant
rs12438025 -- 43,600,649(+) CACTG(C/G)AGATG reference, synonymous-codon
rs7170938 -- 43,602,048(+) atgta(G/T)aggtt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for STRC Gene

Variant ID Type Subtype PubMed ID
nsv437799 CNV Loss 16327808
nsv832988 CNV Loss 17160897
nsv428304 CNV Loss 18775914
dgv741e1 CNV Complex 17122850
dgv742e1 CNV Complex 17122850
nsv524910 CNV Loss 19592680
dgv2370n71 CNV Gain 21882294
dgv2371n71 CNV Gain 21882294
dgv2372n71 CNV Gain 21882294
nsv509569 CNV Insertion 20534489
nsv904151 CNV Gain 21882294
dgv2373n71 CNV Loss 21882294
nsv904153 CNV Gain+Loss 21882294
esv24113 CNV Gain+Loss 19812545
nsv1514 CNV Loss 18451855
esv2421427 CNV Deletion 20811451
nsv9249 CNV Gain+Loss 18304495
esv33424 CNV Loss 17666407
dgv2374n71 CNV Loss 21882294
dgv743e1 CNV Complex 17122850
esv2749626 CNV Deletion 23290073
nsv442372 CNV CNV 18776908
nsv9250 CNV Loss 18304495
nsv433293 CNV Loss 18776910
nsv904169 CNV Gain 21882294
dgv2375n71 CNV Gain 21882294
nsv9251 CNV Loss 18304495

Variation tolerance for STRC Gene

Gene Damage Index Score: 12.90; 94.88% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for STRC Gene

HapMap Linkage Disequilibrium report
STRC
Human Gene Mutation Database (HGMD)
STRC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STRC Gene

Disorders for STRC Gene

MalaCards: The human disease database

(7) MalaCards diseases for STRC Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 16
  • deafness, autosomal recessive, 16
deafness-infertility syndrome
  • sensorineural deafness and male infertility
catsper-related male infertility
dfnb16 nonsyndromic hearing loss and deafness
  • dfnb 16 nonsyndromic hearing loss and deafness
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
- elite association - COSMIC cancer census association via MalaCards
Search STRC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

STRC_HUMAN
  • 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.
  • 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.

Relevant External Links for STRC

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
STRC
genes like me logo Genes that share disorders with STRC: view

No data available for Genatlas for STRC Gene

Publications for STRC Gene

  1. Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus. (PMID: 11687802) Verpy E. … Petit C. (Nat. Genet. 2001) 2 3 4 23 67
  2. Sequence similarity between stereocilin and otoancorin points to a unified mechanism for mechanotransduction in the mammalian inner ear. (PMID: 12445334) Jovine L. … Wassarman P.M. (BMC Cell Biol. 2002) 3 23
  3. A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22. (PMID: 9429146) Campbell D.A. … Mueller R.F. (J. Med. Genet. 1997) 2 3
  4. DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics. (PMID: 26011646) Vona B. … Haaf T. (Clin. Genet. 2015) 3
  5. Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment. (PMID: 22147502) Francey L.J. … Krantz I.D. (Am. J. Med. Genet. A 2012) 3

Products for STRC Gene

Sources for STRC Gene

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