STRC Gene
protein-coding GIFtS: 44
GCID: GC15M043892
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stereocilin
(Previous symbol: DFNB16)
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Aliases
for STRC gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Stereocilin1 | | DFNB161 2 5 |
Export aliases for STRC gene to outside databasesPrevious GC identifers: GC15U990014 GC15M036787 GC15M041470 GC15M041607 GC15M041679 |
Summaries
for STRC gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for STRC:
This gene encodes a protein that is associated with the hair bundle of the sensory hair cells in the inner ear. Thehair 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 genecause autosomal recessive non-syndromic deafness. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: STRC_HUMAN, Q7RTU9Function: Essential to the formation of horizontal top connectors between outer hair cell stereocilia (By similarity)
Gene Wiki entry for STRC
|
Genomic Views
for STRC gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000015.9 NC_018926.1 NT_010194.17
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the STRC gene promoter:
ER-alpha GR NF-1/L NF-1 Pax-5 p300 Hand1 GR-alpha E47
Other transcription factors
Search SABiosciences Chromatin IP Primers for STRC
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat STRC |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 15q15.3 Ensembl cytogenetic band: 15q15.3 HGNC cytogenetic band: 15q15.3STRC Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 15 GeneLoc Exon Structure GeneLoc location for GC15M043892: view genomic region
(about GC identifiers)
Start:
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43,891,596 bp from pter |
End:
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44,010,458 bp from pter |
Size:
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118,863 bases |
Orientation:
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minus strand |
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Proteins
for STRC gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: STRC_HUMAN, Q7RTU9 (See
protein sequence)Recommended Name: Stereocilin precursor Size: 1775 amino acids; 192967 Da
Subcellular location: Cell surface (By similarity). Cell projection, kinocilium (By similarity). Cell projection,stereocilium (By similarity)Explore the universe of human proteins at neXtProt for STRC: NX_Q7RTU9
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q7RTU9
STRC Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_714544.1
ENSEMBL proteins: ENSP00000401513 ENSP00000415991 ENSP00000394866 ENSP00000394755 ENSP00000407303 ENSP00000440413
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
STRC for ontologies About GeneDecksing
STRC Antibody Products:
Assay Products for STRC: |
Protein
Domains /
Families
for STRC gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
STRC for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q7RTU9ProtoNet protein and cluster: Q7RTU9 UniProtKB/Swiss-Prot: STRC_HUMAN, Q7RTU9Similarity: Belongs to the stereocilin family |
Function
for STRC gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: STRC_HUMAN, Q7RTU9Function: Essential to the formation of horizontal top connectors between outer hair cell stereocilia (By similarity)
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for STRC (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for STRC
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: STRC (NM_153700) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for STRC | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STRC |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STRC |
Animal Models:
Mouse knock-out Strctm1Ugds for STRC
2 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Strc):
STRC for phenotypes About GeneDecksing
|
Pathways & Interactions
for STRC gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for STRC
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | 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 |
ISS | -- |
STRC for ontologies About GeneDecksing
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Drugs & Compounds
for STRC gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for STRC
Search CenterWatch for drugs/clinical trials and news about STRC
|
Transcripts
for STRC gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for STRC gene: NM_153700.2 Unigene Cluster for STRC: Stereocilin Hs.657395 [show with all ESTs]Unigene Representative Sequence: NM_15370013 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000450892(uc001zsf.3) ENST00000471703 ENST00000448437 ENST00000485556(uc001zse.3)
ENST00000428650 ENST00000440125(uc010bdl.3 uc010udz.1) ENST00000460952
ENST00000493750 ENST00000455136 ENST00000483250 ENST00000470279 ENST00000432436(uc001zsg.1)
ENST00000541030
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for STRC (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for STRC
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: STRC (NM_153700) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for STRC | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STRC |
Additional cDNA sequence: AK090757.1 AK122814.1 AK124582.1 AK126721.1 AK296993.1 AK308370.1 BC129931.1 BC129932.1 11 DOTS entries: DT.65287568 DT.101980208 DT.121025327 DT.91663512 DT.101980209 DT.121024855 DT.91998301 DT.98083425 DT.95356186 DT.121025062 DT.40217998 14 AceView cDNA sequences: AK122814 AK124582 NM_153700 BQ082401 BK000138 BG413427 BQ082385 BQ082357 AX746602 BX452064 AK126721 BX419118 AK090757 BG015585
GeneLoc Exon Structure
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Expression
for STRC gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| STRC expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAATAAATAT
About this image
See STRC Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for STRC
SOURCE GeneReport for Unigene cluster: Hs.657395
SABiosciences Custom PCR Arrays for STRC
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for STRC
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat STRC | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat STRC | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat STRC | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STRC |
Orthologs
for STRC gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
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This gene was present in the common ancestor of chordates.
Orthologs for STRC gene from 2/10 species (see all 10) About this table
ENSEMBL Gene Tree for STRC (if available)
TreeFam Gene Tree for STRC (if available) |
Paralogs
for STRC gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for STRC gene
- OTOA2
1 SIMAP similar gene for STRC using alignment to 8 protein entries: STRC_HUMAN (see all proteins):STRCP1
STRC for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for STRC
PGOHUM00000262904
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Genomic Variants
for STRC gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 15 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for STRC (43891596 - 44010458 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 12 variations for STRC
12 CNVs: 87664 30709 66780 35314 1282 3079 32028 35315 38875 66782 7061 3960
Human Gene Mutation Database (HGMD): STRC
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing STRC |
|
Disorders
/ Diseases
for STRC gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
STRC for disorders About GeneDecksing
OMIM gene information: 606440
OMIM disorders: 603720
UniProtKB/Swiss-Prot: STRC_HUMAN, Q7RTU9
Defects in STRC are the cause of deafness autosomal recessive type 16 (DFNB16) [MIM:603720]. DFNB16 is a formof 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 Defects in STRC are a cause of deafness-infertility syndrome (DIS) [MIM:611102]. DIS is characterized bydeafness and infertility and is caused by large contiguous gene deletions at 15q15.3 that removes both STRC andCATSPER2 genes
11  diseases for STRC: About MalaCardsdeafness, autosomal recessive 16 deafness-infertility syndrome sensorineural hearing loss congenital dyserythropoietic anemia
male infertility hearing loss deafness and male infertility dyserythropoietic anemia
otosclerosis infertility anemia
2 diseases from the University of Copenhagen DISEASES database for STRC:Nonsyndromic deafness Sensorineural hearing loss Export disorders for STRC gene to outside databases
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Publications
for STRC gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for STRC gene, integrated from 9 sources (see all 16):
(articles sorted by number of sources associating them with STRC) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus. (PubMed id 11687802)1, 2, 3, 9 Verpy E.... Petit C. (2001)
- Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)1, 2 Zody M.C....Nusbaum C. (2006)
- A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22. (PubMed id 9429146)1, 3 Campbell D.A....Mueller R.F. (1997)
- Sequence similarity between stereocilin and otoancorin points to a unified mechanism for mechanotransduction in the mammalian inner ear. (PubMed id 12445334)1, 9 Jovine L....Wassarman P.M. (2002)
- Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment. (PubMed id 22147502)1 Francey L.J....Krantz I.D. (2012)
- Sensorineural deafness and male infertility: a contiguous gene deletion syndrome. (PubMed id 17098888)2 Zhang Y.... Smith R.J.H. (2007)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
- Hereditary deafness and phenotyping in humans. (PubMed id 12324385)1 Bitner-Glindzicz M. (2002)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
- Deafness locus DFNB16 is located on chromosome 15q13-q21 within a 5-cM interval flanked by markers D15S994 and D15S132. (PubMed id 10090914)1 Villamar M....Moreno F. (1999)
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External Searches for STRC gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing STRC gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing STRC gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing STRC gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for STRC | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for STRC gene:
Search GeneIP for patents involving STRC
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for STRC gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for STRC | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for STRC | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for STRC | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for STRC | | OriGene 3'-UTR Clone for STRC | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for STRC | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for STRC | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for STRC | | OriGene Custom Protein Services for STRC | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat STRC | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing STRC | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat STRC | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat STRC | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat STRC | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat STRC |
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 |  |  |  | |
| | | | Search Tocris compounds for STRC |
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 | | | STRC Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STRC |
|  |  |  | | | | Search ThermoFisher Antibodies for STRC |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STRC |
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