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

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
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

Show/Hide all (2)

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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 View all (27 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deafness-infertility syndrome	Pathogenic; Likely pathogenic	rs1411667337, rs727503444, rs778909195, rs748854592	RCV004783971 RCV002498708 RCV001333009 RCV000763351	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonsyndromic genetic hearing loss	Pathogenic	rs1189167614	RCV003333684	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (20 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spermatogenic failure 7	Pathogenic; Likely pathogenic	rs727503444, rs748854592	RCV002498708 RCV000763351	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
STRC-related disorder	Pathogenic; Likely pathogenic	rs377480477, rs371513959, rs727503444, rs876657725, rs774312182, rs2507597886, rs2507595775, rs2507593936, rs1038585075, rs769443188, rs1336307815, rs748854592, rs576724182	RCV004748606 RCV004748601 RCV004748602 RCV003897476 RCV004748678 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant nonsyndromic hearing loss 16	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 16	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 16	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, SENSORINEURAL, AND MALE INFERTILITY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HEARING LOSS, AUTOSOMAL RECESSIVE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (39)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Asthenozoospermia	Asthenozoospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Auditory neuropathy	Auditory Neuropathy	BEFREE	12324385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Auditory neuropathy spectrum disorder	Auditory neuropathy	BEFREE	12324385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	31992338, 32203226, 35062939, 35248088, 36672845	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Recessive 16	Deafness	Pubtator	39645194	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness Sensorineural And Male Infertility	Deafness, sensorineural, and male infertility	Pubtator	32203226, 35022556	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL DOMINANT 16	Deafness	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)	Deafness	BEFREE	19246478		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Recessive 16	Deafness	CLINVAR_DG	11687802, 21078986, 25157971, 26011646, 26746617		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 16	Deafness	BEFREE	12324385, 19246478, 30250054		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 16	Deafness	GENOMICS_ENGLAND_DG	26011646		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 16	Deafness	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 2	Deafness	BEFREE	12324385		★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT	Deafness	BEFREE	12324385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Recessive 9	Deafness	BEFREE	12324385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness, Sensorineural, And Male Infertility	Deafness	ORPHANET_DG	17098888		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Sensorineural, And Male Infertility	Deafness	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Sensorineural, And Male Infertility	Deafness	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness-infertility syndrome	Deafness-Infertility Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Down Syndrome	Down Syndrome	BEFREE	29633566		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	22147502, 25157971, 25528277, 26011646, 27469136, 28000701, 30250054, 30867468, 31218851, 31985074, 32991204, 33753912, 34440452, 35022556, 35062939, 36555390, 37996878, 39645194 View all (3 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	22147502, 29986705, 32203226, 35022556, 36526540	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	35022556	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	11687802, 18849963, 26011646, 26746617		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	25157971, 30758234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ocular Albinism type 1	Ocular albinism	Pubtator	36526540	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	BEFREE	11571554		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	11687802, 30531641, 31552524		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	BEFREE	22147502		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spermatogenic Failure 7	Spermatogenic Failure	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spermatogenic Failure 7	Spermatogenic Failure	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vestibular Diseases	Vestibular disease	Pubtator	36526540	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vestibular Neuronitis	Vestibular neuritis	Pubtator	30250054	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

STRC (stereocilin)