STRC (stereocilin)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
161497
Gene name Gene Name - the full gene name approved by the HGNC.
Stereocilin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
STRC
Synonyms (NCBI Gene) Gene synonyms aliases
DFNB16
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DFNB16
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q15.3
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(31)
SNP ID Visualize variation Clinical significance Consequence
rs2920791 G>A Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, coding sequence variant
rs139956283 G>A Likely-pathogenic Coding sequence variant, stop gained
rs144948296 G>A,C Pathogenic, pathogenic-likely-pathogenic Missense variant, coding sequence variant, stop gained
rs147717802 G>A,C Likely-pathogenic Missense variant, stop gained, coding sequence variant
rs199839039 C>T Likely-pathogenic, pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
miRTarBase ID miRNA Experiments Reference
MIRT1399443 hsa-miR-3647-3p CLIP-seq
MIRT1399444 hsa-miR-4766-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(8)
GO ID Ontology Definition Evidence Reference
GO:0007160 Process Cell-matrix adhesion IBA 21873635
GO:0009986 Component Cell surface IBA 21873635
GO:0032426 Component Stereocilium tip IBA 21873635
GO:0032426 Component Stereocilium tip ISS
GO:0050910 Process Detection of mechanical stimulus involved in sensory perception of sound IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
606440 16035 ENSG00000242866
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q7RTU9
Protein name Stereocilin
Protein function Essential to the formation of horizontal top connectors between outer hair cell stereocilia.
Family and domains
Sequence 
MALSLWPLLLLLLLLLLLSFAVTLAPTGPHSLDPGLSFLKSLLSTLDQAPQGSLSRSRFF
TFLANISSSFEPGRMGEGPVGEPPPLQPPALRLHDFLVTLRGSPDWEPMLGLLGDMLALL
GQEQTPRDFLVHQAGVLGGLVEVLLGALVPGGPPTPTRPPCTRDGPSDCVLAADWLPSLL
LLLEGTRWQALVQVQPSVDPTNATGLDGREAAPHFLQGLLGLLTPTGELGSKEALWGGLL
RTVGAPLYAAFQEGLLRVTHSLQDEVFSILGQPEPDTNGQCQGGNLQQLLLWGVRHNLSW
DVQALGFLSGSPPPPPALLHCLSTGVPLPRASQPSAHISPRQRRAITVEALCENHLGPAP
PYSISNFSIHLLCQHTKPATPQPHPSTTAICQTAVWYAVSWAPGAQGWLQACHDQFPDEF
LDAICSNLSFSALSGSNRRLVKRLCAGLLPPPTSCPEGLPPVPLTPDIFWGCFLENETLW
AERLCGEASLQAVPPSNQAWVQHVCQGPTPDVTASPPCHIGPCGERCPDGGSFLVMVCAN
DTMYEVLVPFWPWLAGQCRISRGGNDTCFLEGLLGPLLPSLPPLGPSPLCLTPGPFLLGM
LSQLPRCQSSVPALAHPTRLHYLLRLLTFLLGPGAGGAEAQGMLGRALLLSSLPDNCSFW
DAFRPEGRRSVLRTIGEYLEQDEEQPTPSGFEPTVNPSSGISKMELLACFSPVLWDLLQR
EKSVWALQILVQAYLHMPPENLQQLVLSAEREAAQGFLTLMLQGKLQGKLQVPPSEEQAL
GRLTALLLQRYPRLTSQLFIDLSPLIPFLAVSDLMRFPPSLLANDSVLAAIRDYSPGMRP
EQKEALAKRLLAPELFGEVPAWPQELLWAVLPLLPHLPLENFLQLSPHQIQALEDSWPAA
GLGPGHARHVLRSLVNQSVQDGEEQVRRLGPLACFLSPEELQSLVPLSDPTGPVERGLLE
CAANGTLSPEGRVAYELLGVLRSSGGAVLSPRELRVWAPLFSQLGLRFLQELSEPQLRAM
LPVLQGTSVTPAQAVLLLGRLLPRHDLSLEELCSLHLLLPGLSPQTLQAIPRRVLVGACS
CLAPELSRLSACQTAALLQTFRVKDGVKNMGTTGAGPAVCIPGQPIPTTWPDCLLPLLPL
KLLQLDSLALLANRRRYWELPWSEQQAQFLWKKMQVPTNLTLRNLQALGTLAGGMSCEFL
QQINSMVDFLEVVHMIYQLPTRVRGSLRACIWAELQRRMAMPEPEWTTVGPELNGLDSKL
LLDLPIQLMDRLSNESIMLVVELVQRAPEQLLALTPLHQAALAERALQNLAPKETPVSGE
VLETLGPLVGFLGTESTRQIPLQILLSHLSQLQGFCLGETFATELGWLLLQESVLGKPEL
WSQDEVEQAGRLVFTLSTEAISLIPREALGPETLERLLEKQQSWEQSRVGQLCREPQLAA
KKAALVAGVVRPAAEDLPEPVPNCADVRGTFPAAWSATQIAEMELSDFEDCLTLFAGDPG
LGPEELRAAMGKAKQLWGPPRGFRPEQILQLGRLLIGLGDRELQELILVDWGVLSTLGQI
DGWSTTQLRIVVSSFLRQSGRHVSHLDFVHLTALGYTLCGLRPEELQHISSWEFSQAALF
LGTLHLQCSEEQLEVLAHLLVLPGGFGPISNWGPEIFTEIGTIAAGIPDLALSALLRGQI
QGVTPLAISVIPPPKFAVVFSPIQLSSLTSAQAVAVTPEQMAFLSPEQRRAVAWAQHEGK
ESPEQQGRSTAWGLQDWSRPSWSLVLTISFLGHLL
Sequence length 1775
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (7)
Causal
Disease term Disease name dbSNP ID References
Azoospermia Azoospermia rs200969445, rs144567652, rs765353898
Deafness DEAFNESS, AUTOSOMAL DOMINANT 16, Deafness, Autosomal Recessive 16, Deafness, Sensorineural, And Male Infertility rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822
View all (1019 more)		 25157971, 26011646, 11687802, 21078986, 26746617, 17098888
Deafness-infertility syndrome Deafness-infertility syndrome rs778909195
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Diabetes Diabetes GWAS
Show/Hide Text Mining Associations (12)
Associations from Text Mining
Disease Name Relationship Type References
Benign Paroxysmal Positional Vertigo Associate 36526540
Deafness Associate 31992338, 32203226, 35062939, 35248088, 36672845
Deafness Autosomal Recessive 16 Associate 39645194
Deafness Sensorineural And Male Infertility Associate 32203226, 35022556
Hearing Loss Associate 22147502, 25157971, 25528277, 26011646, 27469136, 28000701, 30250054, 30867468, 31218851, 31985074, 32991204, 33753912, 34440452, 35022556, 35062939
View all (3 more)
Hearing Loss Sensorineural Associate 22147502, 29986705, 32203226, 35022556, 36526540
Infertility Male Associate 35022556
Nonsyndromic Deafness Associate 23990876, 25157971
Nonsyndromic sensorineural hearing loss Associate 22147502, 26011646, 36555390
Ocular Albinism type 1 Associate 36526540