Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	161497
Gene name	Stereocilin
Gene symbol	STRC
Synonyms (NCBI Gene)	DFNB16
Chromosome	15
Chromosome location	15q15.3
Summary	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

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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
rs371513959	C>A	Pathogenic	Coding sequence variant, stop gained
rs376104748	G>A,C	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs377480477	G>A	Pathogenic	Coding sequence variant, stop gained
rs576724182	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs727503442	TCCAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs727503443	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs727503444	G>A	Pathogenic	Stop gained, coding sequence variant
rs727505074	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs748854592	C>T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs755471554	G>A,C	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs756606635	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs763904943	C>A,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs764864372	TG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs766595464	C>T	Pathogenic	Splice donor variant
rs769443188	C>A,G	Pathogenic	Missense variant, stop gained, coding sequence variant
rs771264491	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant
rs774312182	G>A	Pathogenic	Coding sequence variant, stop gained
rs778909195	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs786200882	->G	Pathogenic	Frameshift variant, coding sequence variant
rs786200883	AACA>-	Pathogenic	Frameshift variant, coding sequence variant
rs876657724	G>T	Pathogenic	Coding sequence variant, stop gained
rs876657725	G>A	Pathogenic	Coding sequence variant, stop gained
rs876657726	G>A	Pathogenic	Coding sequence variant, stop gained
rs1344019160	G>A	Pathogenic	Stop gained, coding sequence variant
rs1366021609	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555447538	CTCACATCGTGCCTAG>-	Likely-pathogenic	Splice donor variant, coding sequence variant, intron variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT1399443	hsa-miR-3647-3p	CLIP-seq
MIRT1399444	hsa-miR-4766-5p	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence
GO:0005929	Component	Cilium	IEA
GO:0007160	Process	Cell-matrix adhesion	IBA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IEA
GO:0032420	Component	Stereocilium	IEA
GO:0032426	Component	Stereocilium tip	IBA
GO:0032426	Component	Stereocilium tip	IEA
GO:0032426	Component	Stereocilium tip	ISS
GO:0042995	Component	Cell projection	IEA
GO:0050910	Process	Detection of mechanical stimulus involved in sensory perception of sound	IEA
GO:0060088	Process	Auditory receptor cell stereocilium organization	IEA
GO:0060088	Process	Auditory receptor cell stereocilium organization	ISS
GO:0060091	Component	Kinocilium	IBA
GO:0060091	Component	Kinocilium	IEA
GO:0060091	Component	Kinocilium	ISS
GO:0060122	Process	Inner ear receptor cell stereocilium organization	IEA

MIM	HGNC	e!Ensembl
606440	16035	ENSG00000242866

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

184

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive nonsyndromic hearing loss 16	Pathogenic; Likely pathogenic	rs1410072763, rs759816064, rs774990944, rs139956283, rs727503442, rs199839039, rs727503443, rs377480477, rs727503444, rs786200882, rs786200883, rs778909195, rs876657725, rs774312182, rs1437200449 View all (17 more)	RCV001785029 RCV001783827 RCV002251081 RCV003155091 RCV003224866 RCV000151944 RCV000770970 RCV002460936 RCV002498708 RCV000004591 RCV000004592 RCV000193949 RCV003155128 RCV000760980 RCV003155570 RCV003155571 RCV003991486 RCV003991487 RCV003991488 RCV003991489 RCV004585134 RCV004586471 RCV000516500 RCV001805200 RCV002467922 RCV001249569 RCV002468031 RCV003155303 RCV000756725 RCV000761359 RCV000770873 RCV001250803
Deafness-infertility syndrome	Pathogenic; Likely pathogenic	rs1411667337, rs727503444, rs778909195, rs748854592	RCV004783971 RCV002498708 RCV001333009 RCV000763351
Nonsyndromic genetic hearing loss	Pathogenic	rs1189167614	RCV003333684
Rare genetic deafness	Pathogenic; Likely pathogenic	rs1432916745, rs1411667337, rs759816064, rs139956283, rs727503442, rs199839039, rs727503443, rs727505074, rs377480477, rs371513959, rs727503444, rs876657726, rs876657725, rs876657724, rs1346499882 View all (10 more)	RCV001449741 RCV001449742 RCV004017868 RCV000151937 RCV000151941 RCV000211855 RCV000151947 RCV000156514 RCV000156556 RCV000151949 RCV000151954 RCV000222381 RCV000218786 RCV000215137 RCV004018153 RCV004018205 RCV000607785 RCV004017664 RCV000607453 RCV000604175 RCV000613880 RCV000616450 RCV000825572 RCV000825646 RCV000825573
Spermatogenic failure 7	Pathogenic; Likely pathogenic	rs727503444, rs748854592	RCV002498708 RCV000763351
STRC-related disorder	Pathogenic; Likely pathogenic	rs377480477, rs371513959, rs727503444, rs876657725, rs774312182, rs2507597886, rs2507595775, rs2507593936, rs1038585075, rs769443188, rs1336307815, rs748854592, rs576724182	RCV004748606 RCV004748601 RCV004748602 RCV003897476 RCV004748678 RCV003420772 RCV003402564 RCV003404367 RCV003404522 RCV004748836 RCV003403414 RCV003953009 RCV003424328

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs74643365	RCV005888361
Autosomal dominant nonsyndromic hearing loss 16	Conflicting classifications of pathogenicity	rs376104748	RCV000225023
Colorectal cancer	Benign	rs3097773, rs74643365	RCV005888487 RCV005888363
Hearing impairment	Uncertain significance	rs1595961729	RCV001002790
Malignant lymphoma, large B-cell, diffuse	Benign	rs3097773	RCV005888486
Malignant tumor of esophagus	Benign	rs74643365	RCV005888362
Thymoma	Benign	rs74643365	RCV005888364
Uterine carcinosarcoma	Benign	rs3097773	RCV005888488
Uterine corpus endometrial carcinoma	Benign	rs74643365	RCV005888365

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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, 36555390, 37996878, 39645194 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
Vestibular Diseases	Associate	36526540
Vestibular Neuronitis	Associate	30250054

STRC (stereocilin)