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Aliases for STRC Gene

Aliases for STRC Gene

  • Stereocilin 2 3 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, Autosomal Dominant 16. 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

Additional gene information for STRC Gene

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

Genomics for STRC Gene

GeneHancer (GH) Regulatory Elements for STRC Gene

Promoters and enhancers for STRC Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15I043791 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 11.8 -85.0 -85009 10.5 CLOCK MLX DMAP1 YY1 SLC30A9 ZNF213 E2F8 SP3 NFYC MEF2D GC15M043788 GC15P043795 HYPK PIR54305 SERINC4 SERF2 SPG11 CTDSPL2 ENSG00000259563 RPS3AP47
GH15I043774 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 12.9 -65.0 -64988 3.6 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 SLC30A9 ZNF207 ELL3 SERF2 WDR76 ADAL SPG11 STRC ENSG00000259563 CTDSPL2 MFAP1 ENSG00000262560
GH15I043823 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.6 -114.5 -114542 5.7 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC SSRP1 GLIS1 NBN WDR76 MFAP1 SPG11 CTDSPL2 ENSG00000249839 ZSCAN29 ENSG00000259563 ADAL CATSPER2 TUBGCP4
GH15I043749 Enhancer 0.6 ENCODE 11.9 -38.7 -38719 1.7 ZNF121 PKNOX1 ZNF384 ATF7 PRDM10 ELF1 PRDM1 ZNF18 STRC SERF2 MIR1282 HYPK CATSPER2P1 PDIA3
GH15I043520 Enhancer 0.3 dbSUPER 11.1 +191.1 191078 0.6 ZNF341 ADAL TGM7 RNU6-554P STRC GC15P043517 GC15P043528 MAP1A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around STRC on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the STRC gene promoter:

Genomic Locations for STRC Gene

Genomic Locations for STRC Gene
chr15:43,599,243-43,711,486
(GRCh38/hg38)
Size:
112,244 bases
Orientation:
Minus strand
chr15:43,891,596-44,010,458
(GRCh37/hg19)

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

Post-translational modifications for STRC Gene

  • Glycosylation at posLast=6565, isoforms=202, posLast=297297, isoforms=366, isoforms=427, posLast=476476, posLast=540540, posLast=565565, isoforms=656, isoforms=824, posLast=916916, posLast=964964, isoforms=1179, and isoforms=1274

No data available for DME Specific Peptides for STRC Gene

Domains & Families for STRC Gene

Gene Families for STRC Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for STRC Gene

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

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.

Phenotypes From GWAS Catalog for STRC Gene

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

CRISPR Products

Inhibitory RNA 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for STRC gene
Compartment Confidence
plasma membrane 3
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for STRC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009986 cell surface IEA,IBA --
GO:0032420 stereocilium IEA --
GO:0032426 stereocilium tip ISS,IEA --
GO:0042995 cell projection IEA --
GO:0060091 kinocilium ISS,IBA --
genes like me logo Genes that share ontologies with STRC: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for STRC Gene

Pathways & Interactions for STRC Gene

No Data Available

Interacting Proteins for STRC Gene

Selected Interacting proteins: Q7RTU9-STRC_HUMAN for STRC Gene via IID

Symbol External ID(s) Details
GJB6

Gene Ontology (GO) - Biological Process for STRC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007160 cell-matrix adhesion IBA --
GO:0007605 sensory perception of sound IBA --
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

Unigene Clusters for STRC Gene

Stereocilin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for STRC Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of STRC Gene:

STRC

SOURCE GeneReport for Unigene cluster for STRC Gene:

Hs.657395

Evidence on tissue expression from TISSUES for STRC Gene

  • Nervous system(3.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for STRC Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • outer ear
  • skull
Pelvis:
  • testicle
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with STRC: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia LOC100608534 33
  • 99.23 (n)
STRC 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia STRC 33 34
  • 90.21 (n)
cow
(Bos Taurus)
Mammalia STRC 33 34
  • 89.36 (n)
mouse
(Mus musculus)
Mammalia Strc 33 16 34
  • 86.46 (n)
rat
(Rattus norvegicus)
Mammalia Strc 33
  • 86.15 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 78 (a)
OneToMany
-- 34
  • 60 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia STRC 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia strc 33
  • 49.08 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100004499 33
  • 46.7 (n)
STRC 34
  • 34 (a)
OneToOne
Species where no ortholog for STRC was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs139956283 pathogenic, Nonsyndromic hearing loss and deafness 43,600,011(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, stop_gained
rs144948296 pathogenic, Deafness, autosomal recessive 16 43,604,750(-) G/A 3_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, stop_gained
rs199839039 likely-pathogenic, pathogenic, Deafness, autosomal recessive 16, Nonsyndromic hearing loss and deafness 43,601,395(-) C/T genic_downstream_transcript_variant, splice_donor_variant
rs2729509 not-provided, benign, Deafness, autosomal recessive 16, not specified 43,618,242(-) A/C/G coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant
rs2920791 uncertain-significance, Deafness, autosomal recessive 16, not specified 43,600,609(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv569247 CNV loss 21841781
nsv832988 CNV loss 17160897
nsv9249 CNV gain+loss 18304495
nsv9250 CNV loss 18304495
nsv9251 CNV loss 18304495
nsv974568 CNV duplication 23825009
nsv569244 CNV gain+loss 21841781
nsv569243 CNV gain 21841781
nsv524910 CNV loss 19592680
nsv509569 CNV insertion 20534489
nsv442372 CNV gain+loss 18776908
nsv437799 CNV loss 16327808
nsv433293 CNV loss 18776910
nsv428304 CNV loss 18775914
nsv1514 CNV deletion 18451855
nsv1160290 CNV duplication 26073780
nsv1160289 CNV deletion 26073780
nsv1139629 CNV duplication 24896259
nsv1070270 CNV deletion 25765185
nsv1054620 CNV gain 25217958
nsv1039949 CNV gain 25217958
esv3892682 CNV loss 25118596
esv3636292 CNV gain 21293372
esv3636291 CNV loss 21293372
esv3581654 CNV loss 25503493
esv3569520 CNV gain 25503493
esv3569487 CNV gain 25503493
esv3368106 CNV duplication 20981092
esv33424 CNV loss 17666407
esv2760028 CNV gain+loss 17122850
esv2749626 CNV deletion 23290073
esv2421427 CNV deletion 20811451
esv24113 CNV gain+loss 19812545
dgv734e212 CNV loss 25503493
dgv733e212 CNV gain 25503493
dgv732e212 CNV loss 25503493
dgv45e203 CNV gain+loss 21179565
dgv4501n54 CNV loss 21841781
dgv2585n100 CNV loss 25217958
dgv2584n100 CNV gain+loss 25217958
dgv2583n100 CNV loss 25217958

Variation tolerance for STRC Gene

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

Additional Variant Information for STRC Gene

Human Gene Mutation Database (HGMD)
STRC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STRC

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

Disorders for STRC Gene

MalaCards: The human disease database

(13) MalaCards diseases for STRC Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 16
  • dfnb16
deafness, autosomal dominant 16
  • dfna16
non-syndromic genetic deafness
  • isolated genetic deafness
nonsyndromic deafness
  • nonsyndromic hearing loss
deafness-infertility syndrome
  • dis
- 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.

Additional Disease Information for 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 (Nature genetics 2001) 2 3 4 22 58
  2. Analysis of the DNA sequence and duplication history of human chromosome 15. (PMID: 16572171) Zody MC … Nusbaum C (Nature 2006) 3 4 58
  3. Sequence similarity between stereocilin and otoancorin points to a unified mechanism for mechanotransduction in the mammalian inner ear. (PMID: 12445334) Jovine L … Wassarman PM (BMC cell biology 2002) 3 22 58
  4. A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22. (PMID: 9429146) Campbell DA … Mueller RF (Journal of medical genetics 1997) 2 3 58
  5. Identification of a nonsense mutation in the STRC gene in a Korean family with moderate hearing loss. (PMID: 26746617) Sagong B … Kim UK (International journal of pediatric otorhinolaryngology 2016) 3 58

Products for STRC Gene

Sources for STRC Gene

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