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

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
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

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

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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

Protein

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

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Deafness	Autosomal recessive nonsyndromic hearing loss 16	rs727503443, rs147717802, rs377480477, rs755471554, rs727503444, rs576724182, rs778909195, rs756606635, rs763904943, rs876657725, rs1366021609, rs786200882, rs774312182, rs786200883, rs144948296 View all (6 more)	N/A
Deafness-Infertility Syndrome	deafness-infertility syndrome	rs778909195	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
hearing impairment	Hearing impairment	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)