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	65217
Gene name	Protocadherin related 15
Gene symbol	PCDH15
Synonyms (NCBI Gene)	CDHR15DFNB23USH1F
Chromosome	10
Chromosome location	10q21.1
Summary	This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gen

134

Show/Hide all (134)

SNP ID	Visualize variation	Clinical significance	Consequence
rs12246234	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs45483395	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs111033260	G>A,T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, synonymous variant
rs111033445	G>A,C,T	Uncertain-significance, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs113363047	TTG>-	Pathogenic, benign	Intron variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant, inframe deletion
rs137853001	G>A	Pathogenic, pathogenic-likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs137853002	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs137853003	G>A,C,T	Pathogenic, likely-pathogenic	Synonymous variant, missense variant, non coding transcript variant, stop gained, coding sequence variant
rs137853004	G>C	Pathogenic	Intron variant, non coding transcript variant, stop gained, coding sequence variant
rs138010738	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, missense variant, non coding transcript variant, coding sequence variant
rs138983888	G>A	Likely-pathogenic	Intron variant, non coding transcript variant, stop gained, coding sequence variant
rs139668636	G>A	Conflicting-interpretations-of-pathogenicity, benign	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs140736502	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs143842048	G>A,C	Likely-pathogenic	Stop gained, missense variant, non coding transcript variant, coding sequence variant
rs145017164	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs146199636	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant, non coding transcript variant, intron variant
rs146796009	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs150784450	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs181306086	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs199469706	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs201161336	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs201328768	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs201855435	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant, genic downstream transcript variant, intron variant
rs202033121	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs267606932	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs368308772	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, non coding transcript variant
rs370261904	G>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs375855445	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs397515566	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs397517451	A>-	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs397517452	T>C	Likely-pathogenic, pathogenic	Splice acceptor variant
rs397517462	AGGAGG>-,AGG	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Inframe deletion, coding sequence variant, genic downstream transcript variant, non coding transcript variant, intron variant
rs483352837	CAA>-	Uncertain-significance, pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs545191822	->GTTT	Conflicting-interpretations-of-pathogenicity, benign	Genic downstream transcript variant, intron variant, non coding transcript variant, frameshift variant, coding sequence variant
rs559130985	CGGCGGCGG>-,CGG,CGGCGG,CGGCGGCGGCGG,CGGCGGCGGCGGCGG,CGGCGGCGGCGGCGGCGG,CGGCGGCGGCGGCGGCGGCGG	Likely-pathogenic, uncertain-significance, benign	Non coding transcript variant, inframe insertion, inframe deletion, genic downstream transcript variant, coding sequence variant
rs561144747	TTC>-	Conflicting-interpretations-of-pathogenicity, benign	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, inframe deletion
rs727504070	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant, intron variant, non coding transcript variant
rs727504301	G>A,C	Pathogenic	Coding sequence variant, stop gained, intron variant, non coding transcript variant, missense variant
rs748086016	TAGAAGGAGGAGAGGGA>-	Likely-benign, conflicting-interpretations-of-pathogenicity	Frameshift variant, coding sequence variant, genic downstream transcript variant, intron variant, non coding transcript variant
rs748706627	C>A,T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs753690225	GAAGAGGAAG>-	Uncertain-significance, likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, intron variant, non coding transcript variant
rs753832779	A>C	Likely-pathogenic	Genic downstream transcript variant, intron variant, splice donor variant
rs754391973	G>A,C	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant, missense variant
rs754543131	A>G	Uncertain-significance, likely-pathogenic	Splice donor variant
rs756692340	A>G	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs757027638	->T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs758685587	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs758921360	C>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs758947077	C>G,T	Likely-pathogenic	Splice donor variant
rs759187261	A>C	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs763797356	C>A,T	Likely-pathogenic, pathogenic-likely-pathogenic	Splice donor variant, intron variant
rs766484375	->T	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs767526540	AGAAGGAGGAGAAATAGGAGGAGGAGG>-	Likely-pathogenic	Inframe deletion, intron variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs769348776	GGGCACGGTCCTGTT>-	Pathogenic-likely-pathogenic	Intron variant, coding sequence variant, splice acceptor variant, non coding transcript variant
rs770832663	->T	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs773404494	G>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs774056663	->ATAGTATT	Likely-pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, frameshift variant, non coding transcript variant
rs774857947	G>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs781148814	->T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs781339303	TG>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs876657418	C>T	Pathogenic	Splice acceptor variant
rs903145299	A>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, stop gained
rs907693214	C>A,T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs989521806	T>A	Likely-pathogenic	Splice acceptor variant, intron variant, genic downstream transcript variant
rs1040514625	T>C	Likely-pathogenic	Initiator codon variant, missense variant, non coding transcript variant
rs1056396947	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, intron variant, 3 prime UTR variant
rs1057516268	A>-	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1057516342	G>A,C	Likely-pathogenic, pathogenic	Stop gained, non coding transcript variant, missense variant, coding sequence variant
rs1057516351	G>-	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1057516470	C>A	Likely-pathogenic	Splice donor variant
rs1057516472	A>T	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1057516474	T>G	Likely-pathogenic	Splice acceptor variant, intron variant
rs1057516560	TTGAAAGAAAAGAA>-	Likely-pathogenic	Splice acceptor variant, intron variant, genic downstream transcript variant
rs1057516613	C>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057516656	A>-	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1057516780	->ATCTC	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1057516821	->CTAC	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1057516892	C>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057516974	T>-	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1057516992	->T	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057517048	->T	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057517150	AG>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057517182	TGAAAGTGGGTGAGTTGTCATTCCTGTCT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057517251	G>A,C	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, synonymous variant
rs1057517261	GATT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1057517264	AC>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057517284	G>-	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1057517325	G>-	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1057517419	->A	Likely-pathogenic	Intron variant, genic downstream transcript variant, splice donor variant
rs1057517443	A>C	Likely-pathogenic	Stop gained, non coding transcript variant, intron variant, coding sequence variant
rs1057520678	A>G,T	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant, synonymous variant
rs1057520709	C>G	Likely-pathogenic, pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1248401224	->A	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1264383341	->T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1304228309	T>A,C	Likely-pathogenic	Splice acceptor variant
rs1328440878	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1384677442	G>A,C,T	Likely-pathogenic	Stop gained, non coding transcript variant, missense variant, coding sequence variant
rs1402893508	C>A,G	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1554806149	A>G	Likely-pathogenic	Intron variant, splice donor variant
rs1554816541	AT>-	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1554822703	A>G	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554822891	GC>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1554822897	->CTTT	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1554823229	C>T	Likely-pathogenic	Genic downstream transcript variant, intron variant, splice donor variant
rs1554823231	C>-	Likely-pathogenic	Genic downstream transcript variant, intron variant, splice donor variant
rs1554824185	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554833227	C>G	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554833242	->CTATCTT	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1554833249	ATCT>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1554833314	TTGA>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1554833699	C>-	Likely-pathogenic	Splice donor variant
rs1554836566	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554852472	C>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554872194	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554873550	C>T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554882546	A>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554882652	->ATCACAGG	Pathogenic	Non coding transcript variant, inframe indel, stop gained, coding sequence variant, genic downstream transcript variant
rs1554883705	C>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554903842	C>T	Likely-pathogenic	Intron variant, splice donor variant
rs1554903979	A>C	Likely-pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1554934073	G>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1554940316	C>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1554956023	A>G	Likely-pathogenic	Splice donor variant
rs1554956088	G>T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1555135419	C>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1564949059	G>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1589036783	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1589072933	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1589156388	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs1589821731	C>T	Likely-pathogenic	Coding sequence variant, splice donor variant, missense variant
rs1589950125	TA>-	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1590691343	A>C	Pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs1591019480	->G	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1591095476	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant

Show/Hide all (39)

miRTarBase ID	miRNA	Experiments	Reference
MIRT734052	hsa-miR-22-5p	ImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blotting	31891366
MIRT1216766	hsa-miR-3174	CLIP-seq
MIRT1216767	hsa-miR-4424	CLIP-seq
MIRT1216768	hsa-miR-4765	CLIP-seq
MIRT1216769	hsa-miR-125a-5p	CLIP-seq
MIRT1216770	hsa-miR-125b	CLIP-seq
MIRT1216771	hsa-miR-1279	CLIP-seq
MIRT1216772	hsa-miR-1299	CLIP-seq
MIRT1216773	hsa-miR-146b-3p	CLIP-seq
MIRT1216774	hsa-miR-1913	CLIP-seq
MIRT1216775	hsa-miR-3148	CLIP-seq
MIRT1216776	hsa-miR-3173-5p	CLIP-seq
MIRT1216777	hsa-miR-324-3p	CLIP-seq
MIRT1216778	hsa-miR-4251	CLIP-seq
MIRT1216779	hsa-miR-4319	CLIP-seq
MIRT1216780	hsa-miR-4324	CLIP-seq
MIRT1216781	hsa-miR-4477a	CLIP-seq
MIRT1216782	hsa-miR-4762-5p	CLIP-seq
MIRT1216783	hsa-miR-499-3p	CLIP-seq
MIRT1216784	hsa-miR-499a-3p	CLIP-seq
MIRT1216785	hsa-miR-548c-3p	CLIP-seq
MIRT1216786	hsa-miR-578	CLIP-seq
MIRT1216787	hsa-miR-580	CLIP-seq
MIRT1216788	hsa-miR-874	CLIP-seq
MIRT1216789	hsa-miR-875-3p	CLIP-seq
MIRT1216790	hsa-miR-944	CLIP-seq
MIRT1216772	hsa-miR-1299	CLIP-seq
MIRT1216775	hsa-miR-3148	CLIP-seq
MIRT1216783	hsa-miR-499-3p	CLIP-seq
MIRT1216784	hsa-miR-499a-3p	CLIP-seq
MIRT1216789	hsa-miR-875-3p	CLIP-seq
MIRT1216772	hsa-miR-1299	CLIP-seq
MIRT1216775	hsa-miR-3148	CLIP-seq
MIRT1216783	hsa-miR-499-3p	CLIP-seq
MIRT1216784	hsa-miR-499a-3p	CLIP-seq
MIRT1216789	hsa-miR-875-3p	CLIP-seq
MIRT2439220	hsa-miR-659	CLIP-seq
MIRT2455989	hsa-miR-3163	CLIP-seq
MIRT2455990	hsa-miR-3662	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IDA	14570705
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IDA	16369489
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0007155	Process	Cell adhesion	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IMP	15537665
GO:0007605	Process	Sensory perception of sound	IMP	11398101
GO:0016020	Component	Membrane	IEA
GO:0032420	Component	Stereocilium	IEA
GO:0032420	Component	Stereocilium	ISS	14570705
GO:0045202	Component	Synapse	IDA	11487575
GO:0045494	Process	Photoreceptor cell maintenance	IMP	11398101
GO:0048839	Process	Inner ear development	IEA
GO:0050839	Function	Cell adhesion molecule binding	IBA
GO:0050953	Process	Sensory perception of light stimulus	IEA
GO:0050953	Process	Sensory perception of light stimulus	IMP	11398101
GO:0050957	Process	Equilibrioception	IEA
GO:0050957	Process	Equilibrioception	IMP	16679490

MIM	HGNC	e!Ensembl
605514	14674	ENSG00000150275

Q96QU1

Protein name

Protocadherin-15

Protein function

Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function.

PDB

4XHZ , 5T4M , 5T4N , 5ULY , 6E8F , 6EB5 , 6MFO , 6N2E

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18432	ECD	31 → 140	Extracellular Cadherin domain	Domain
PF00028	Cadherin	152 → 256	Cadherin domain	Domain
PF00028	Cadherin	514 → 606	Cadherin domain	Domain
PF00028	Cadherin	621 → 708	Cadherin domain	Domain
PF00028	Cadherin	723 → 810	Cadherin domain	Domain
PF00028	Cadherin	824 → 917	Cadherin domain	Domain
PF00028	Cadherin	931 → 1027	Cadherin domain	Domain
PF00028	Cadherin	1044 → 1135	Cadherin domain	Domain
PF00028	Cadherin	1149 → 1243	Cadherin domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain, lung, kidney, spleen and testis. Found also in the inner and outer synaptic layers, and the nerve fiber layer in adult and fetal retinas. Found in the supporting cells, outer sulcus cells and spiral ganglion of feta

Sequence

MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNM
LIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQC
INKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDID
DGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRKRLNYEDKTRYFVIIQANDRAQN
LNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPLTYQAAIPELRTPEELNPIIV
TPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLLEPVNRDFHQK
FDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNL
TSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFS
ITAFDGVQESEPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGS
NGEITYEILVGAQGDFIINKTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICT
VYIEVLPPNNQSPPRFPQLMYSLEISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRV
FNLSETTGILTLGKALDRESTDRYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPY
LPRNLSVVEEEANAFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNRE
VRDYYELVVVATDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQ
IEAKDVDLGANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFD
IYGTMPPGIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPA
SRVRYRVDDVQFPYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSA
TVKILVLHPGEIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTF
GINNITGVIYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENNH
PPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETY
TGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLV
EKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRA
IDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLAL
AFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPP
PPPGAHLYEELGDSSILFLLYHFQQSRGNNSVSEDRKHQQVVMPFSSNTIEAHKSAHVDG
SLKSNKLKSARKFTFLSDEDDLSAHNPLYKENISQVSTNSDISQRTDFVDPFSPKIQAKS
KSLRGPREKIQRLWSQSVSLPRRLMRKVPNRPEIIDLQQWQGTRQKAENENTGICTNKRG
SSNPLLTTEEANLTEKEEIRQGETLMIEGTEQLKSLSSDSSFCFPRPHFSFSTLPTVSRT
VELKSEPNVISSPAECSLELSPSRPCVLHSSLSRRETPICMLPIETERNIFENFAHPPNI
SPSACPLPPPPPISPPSPPPAPAPLAPPPDISPFSLFCPPPSPPSIPLPLPPPTFFPLSV
STSGPPTPPLLPPFPTPLPPPPPSIPCPPPPSASFLSTECVCITGVKCTTNLMPAEKIKS
SMTQLSTTTVCKTDPQREPKGILRHVKNLAELEKSVANMYSQIEKNYLRTNVSELQTMCP
SEVTNMEITSEQNKGSLNNIVEGTEKQSHSQSTSL

Sequence length

1955

Interactions

View interactions

1782

Show/Hide Causal Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive nonsyndromic hearing loss 23	Pathogenic; Likely pathogenic	rs2079481708, rs763882874, rs1436725375, rs1554820966, rs749884609, rs779165268, rs748706627, rs2136049616, rs2133801342, rs1193650682, rs2134904455, rs2133652254, rs2135322143, rs35296328, rs2134714388 View all (108 more)	RCV001328030 RCV005040270 RCV005040264 RCV005040251 RCV005040243 RCV003474000 RCV003473966 RCV003473929 RCV003473947 RCV003473937 RCV003473978 RCV001822910 RCV001823254 RCV003474009 RCV001580755 RCV001809325 RCV003475107 RCV003475299 RCV005042590 RCV005042598 RCV003475302 RCV002479590 RCV005050477 RCV005050478 RCV004571629 RCV003475222 RCV003475288 RCV003475153 RCV004571496 RCV005042491 RCV003475252 RCV002052080 RCV003475311 RCV002498738 RCV005042800 RCV002468759 RCV005042358 RCV003475489 RCV000770851 RCV003472980 RCV000477806 RCV000005221 RCV000005222 RCV005044975 RCV003475449 RCV003474975 RCV003474992 RCV003474996 RCV005047401 RCV003475524 RCV003155579 RCV003155593 RCV003476666 RCV003476671 RCV003476673 RCV003476678 RCV003476680 RCV003476682 RCV003476683 RCV003476695 RCV003476696 RCV003476705 RCV004574132 RCV004574181 RCV004574276 RCV005047751 RCV004573156 RCV004796836 RCV000005225 RCV004574464 RCV004574465 RCV004574466 RCV004574467 RCV004574468 RCV004574469 RCV004574470 RCV004574471 RCV004574472 RCV004574473 RCV005049536 RCV002505994 RCV003475946 RCV003475937 RCV004567880 RCV000770852 RCV005044607 RCV003475948 RCV005049538 RCV003475970 RCV005044617 RCV003475969 RCV003475971 RCV003476015 RCV000454314 RCV003471963 RCV005044893 RCV004568569 RCV004568520 RCV003472126 RCV005392267 RCV005049649 RCV005046899 RCV005049634 RCV003472171 RCV003472082 RCV005046901 RCV003472159 RCV003472172 RCV000770853 RCV001809740 RCV003472143 RCV000681533 RCV003473288 RCV000515240 RCV003472387 RCV004569625 RCV005047063 RCV003473520 RCV003473534 RCV003473548 RCV003473554 RCV002479312 RCV003473712 RCV003473713 RCV003473760 RCV003473741 RCV003473740 RCV003473762 RCV002491787 RCV002290658 RCV001283795
Childhood onset hearing loss	Likely pathogenic; Pathogenic	rs1057517251	RCV001328031
Ear malformation	Likely pathogenic	rs2132598205	RCV001814510
Hearing loss, autosomal recessive	Likely pathogenic; Pathogenic	rs1564949059	RCV001291231
Lung cancer	Likely pathogenic	rs1554883705	RCV005912489
PCDH15-related disorder	Pathogenic; Likely pathogenic	rs111033260, rs773404494, rs2549545616, rs1057517251, rs1057516892, rs759187261	RCV004734497 RCV004734863 RCV004527864 RCV004530499 RCV004725198 RCV004735805
Progressive cone dystrophy (without rod involvement)	Likely pathogenic	rs781339303	RCV000787857
Rare genetic deafness	Pathogenic; Likely pathogenic	rs727504301, rs137853001, rs111033260, rs137853003, rs773404494, rs770832663, rs781148814, rs397517451, rs397517452, rs202033121	RCV000824734 RCV000824737 RCV000824735 RCV000211736 RCV000223562 RCV000826148 RCV000824732 RCV000824736 RCV000824733 RCV000824731
Retinal dystrophy	Likely pathogenic; Pathogenic	rs758921360, rs1057517251, rs763797356, rs143842048, rs1402893508	RCV004816632 RCV001073718 RCV004816657 RCV001073252 RCV001074213
Usher syndrome	Likely pathogenic; Pathogenic	rs2492343512, rs2547624796, rs2492334575, rs1022105558, rs202033121, rs1591095476	RCV003389530 RCV003389536 RCV003389537 RCV003389546 RCV003389450 RCV000826125
Usher syndrome type 1	Pathogenic; Likely pathogenic	rs111033260, rs137853003, rs397517451, rs1384677442	RCV000218809 RCV003333743 RCV000219366 RCV001004340
Usher syndrome type 1D	Pathogenic; Likely pathogenic	rs2079481708, rs763882874, rs1436725375, rs1554820966, rs749884609, rs748706627, rs2136049616, rs2135322143, rs2134714165, rs2132508266, rs2132512042, rs2133817680, rs2132508767, rs2079479378, rs765906921 View all (82 more)	RCV001328030 RCV005040270 RCV005040264 RCV005040251 RCV005040243 RCV001810507 RCV005040254 RCV005040319 RCV005050417 RCV005042590 RCV005042598 RCV002479590 RCV005050477 RCV005050478 RCV005042533 RCV005042491 RCV002250176 RCV001002687 RCV002306497 RCV002306621 RCV002306698 RCV002306702 RCV002306742 RCV002309675 RCV002309696 RCV002309833 RCV002309894 RCV002307868 RCV002307936 RCV002307948 RCV002308051 RCV002308293 RCV002308320 RCV002308321 RCV002309114 RCV002309270 RCV002309325 RCV002309377 RCV002309418 RCV002309449 RCV002309504 RCV002306927 RCV002307187 RCV002307248 RCV002307276 RCV002307292 RCV002307345 RCV002310101 RCV002310166 RCV002310204 RCV002310257 RCV002310299 RCV002310358 RCV002310360 RCV002310434 RCV002310540 RCV002308425 RCV002308428 RCV005042358 RCV005041988 RCV001198734 RCV000477806 RCV005044975 RCV000210315 RCV005044438 RCV005047401 RCV005356346 RCV005051309 RCV005051310 RCV005047598 RCV005047751 RCV004796836 RCV003992138 RCV005042067 RCV004576157 RCV004576158 RCV004576159 RCV005049536 RCV002505994 RCV005044605 RCV005049535 RCV005044607 RCV005049538 RCV005044617 RCV005044616 RCV005044893 RCV005392267 RCV005049649 RCV005046899 RCV005049634 RCV005046901 RCV005046907 RCV000515240 RCV005047063 RCV005047193 RCV005047194 RCV002479312 RCV001198733 RCV002491787 RCV003992488
Usher syndrome type 1F	Pathogenic; Likely pathogenic	rs2079481708, rs757418440, rs1363688830, rs763882874, rs1436725375, rs1554820966, rs749884609, rs779165268, rs748706627, rs2136049616, rs1193650682, rs2135322143, rs2133646979, rs2133664431, rs2134714165 View all (127 more)	RCV001328030 RCV002550241 RCV002550243 RCV005040270 RCV005040264 RCV005040251 RCV005040243 RCV002551578 RCV002551549 RCV005040254 RCV002307742 RCV005040319 RCV001787319 RCV001825103 RCV001844738 RCV005042590 RCV002571248 RCV002548051 RCV005042598 RCV002479590 RCV002568520 RCV005050477 RCV005050478 RCV005042533 RCV005042491 RCV002250982 RCV000154331 RCV005042800 RCV000169489 RCV003062261 RCV000005215 RCV000005216 RCV000005217 RCV000005218 RCV003234893 RCV000005224 RCV005044975 RCV000240654 RCV000781698 RCV001833187 RCV002789950 RCV002789951 RCV002789952 RCV002789953 RCV005051309 RCV005051310 RCV005608969 RCV005047598 RCV005047751 RCV004796836 RCV005609090 RCV002513133 RCV004585123 RCV004585124 RCV000410459 RCV000409410 RCV000410301 RCV000411267 RCV000409923 RCV000410395 RCV000410951 RCV000410014 RCV000411967 RCV000409226 RCV000410850 RCV000409990 RCV000409970 RCV000409420 RCV000410518 RCV000412338 RCV000410835 RCV000411936 RCV000412083 RCV000412275 RCV000409254 RCV000410816 RCV000410583 RCV000411988 RCV000410287 RCV000410989 RCV000411068 RCV000410351 RCV000410045 RCV000411154 RCV000411523 RCV000411639 RCV000411746 RCV000411565 RCV002307495 RCV000671775 RCV002232235 RCV000670820 RCV000674755 RCV000666836 RCV000671510 RCV000669022 RCV000671550 RCV000674150 RCV000668350 RCV000672564 RCV000674799 RCV000668616 RCV000670660 RCV000669464 RCV000664985 RCV000671545 RCV000671194 RCV000672638 RCV000674163 RCV000665362 RCV000671485 RCV000665269 RCV000674498 RCV000674589 RCV000670875 RCV000666838 RCV000674273 RCV000671600 RCV000666101 RCV000667450 RCV000672908 RCV000668253 RCV000673647 RCV000674516 RCV000674704 RCV000665959 RCV000674501 RCV000665400 RCV000674070 RCV000667538 RCV000670840 RCV000669594 RCV000670777 RCV000672062 RCV000672339 RCV000039705 RCV000039708 RCV000039723 RCV005606712 RCV002536992 RCV000988361 RCV000988362 RCV002549240 RCV005047194 RCV002479312 RCV001827443 RCV002562390 RCV001836156 RCV002491787 RCV005606788
Usher syndrome type 1G	Pathogenic	rs111033260	RCV000055970
USHER SYNDROME, TYPE ID/F, DIGENIC	Pathogenic	rs397517451	RCV000005223

Show/Hide Unknown Diseases (23)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Aganglionic megacolon	Uncertain significance	rs1589906631	RCV000984704
Cholangiocarcinoma	Benign; Likely benign	rs10825269, rs41304641, rs7914232, rs1342308	RCV005890120 RCV005890127 RCV005905524 RCV005902179
Clear cell carcinoma of kidney	Benign; Likely benign	rs41304641	RCV005890122
Colon adenocarcinoma	Benign	rs5785023	RCV005871270
Colorectal cancer	Benign; Likely benign	rs10825269	RCV005890118
Familial cancer of breast	Benign; Likely benign	rs41304641, rs111033463	RCV005890121 RCV005890131
Gastric cancer	Benign; Likely benign	rs41304641, rs58461416	RCV005890124 RCV005890130
Hearing impairment	Uncertain significance; Conflicting classifications of pathogenicity	rs1330084526, rs142512524, rs747921916, rs142698812	RCV001375132 RCV001375215 RCV001375308 RCV001375060
Malignant tumor of esophagus	Benign	rs58461416	RCV005890129
Meniere disease	Uncertain significance	rs762526774	RCV001797161
Non-Syndromic Hereditary Hearing Impairment	Uncertain significance	rs907693214	RCV001034599
Nonsyndromic Deafness	Conflicting classifications of pathogenicity	rs774056663	RCV000578330
Optic atrophy	Uncertain significance; Conflicting classifications of pathogenicity	rs562377533, rs148162562, rs139175351	RCV004815218 RCV004815217 RCV004817867
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs41304641	RCV005890125
Retinitis pigmentosa	Uncertain significance	rs368308772	RCV000787858
Retinitis pigmentosa-deafness syndrome	Conflicting classifications of pathogenicity; Uncertain significance	rs750835578, rs886047067, rs886047056, rs886047068, rs886047057, rs548021914, rs397517462, rs397517465	RCV000297781 RCV000338916 RCV000318723 RCV000330997 RCV000277198 RCV000347572 RCV000360567 RCV000363120
Sarcoma	Benign; Likely benign	rs41304641	RCV005890123
Schizophrenia	Uncertain significance	rs2493085533	RCV002463504
See cases	Conflicting classifications of pathogenicity	rs776051221	RCV002252079
Squamous cell lung carcinoma	Uncertain significance	rs1827372186	RCV005928678
Thymoma	Benign; Likely benign	rs41304641	RCV005890126
Uterine carcinosarcoma	Benign; Likely benign	rs1561675, rs10825269, rs7914232	RCV005917372 RCV005890119 RCV005905523
Uveal melanoma	Benign	rs10825347	RCV005911446

Show/Hide Text Mining Associations (37)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Autism Spectrum Disorder	Associate	34948243
Bipolar Disorder	Associate	31540999, 35667888
Calcinosis Cutis	Associate	31937901
Deaf Blind Disorders	Associate	18719945
Deafness	Associate	18719945, 23767834, 26011067, 29568747, 29692870, 31992338, 32048449, 36384460
Deafness Autosomal Recessive	Associate	29568747
Deafness Autosomal Recessive 23	Associate	22815625
Disease	Associate	37884635
Eye Diseases Hereditary	Associate	36729443
Glioma	Associate	35637313
Graves Disease	Associate	27304844
Graves Ophthalmopathy	Associate	27304844
Growth Hormone Secreting Pituitary Adenoma	Associate	36233050
Hearing Loss	Associate	18719945, 25462672, 27766948, 28281779, 29692870, 37198144, 37232061
Hearing Loss Noise Induced	Associate	25462672, 28292353, 29301492, 30947719
Hearing Loss Sensorineural	Associate	35580552, 35779349, 37198144
Hernia	Associate	27745870
Hypersensitivity Immediate	Associate	18719945
Mental Disorders	Associate	27058588, 37884635
Myopia	Associate	37884635
Neoplasm Metastasis	Associate	31937901
Nonsyndromic Deafness	Associate	18719945, 19107147, 22815625, 39298473
Nonsyndromic sensorineural hearing loss	Associate	22815625, 37232061
Nonsyndromic sensorineural hearing loss	Stimulate	26445815
Pancreatic Neoplasms	Associate	36740149
Pelvic Inflammatory Disease	Associate	31937901
Pituitary Neoplasms	Associate	36233050
Retinal Dystrophies	Associate	24625443, 40384762
Retinitis Pigmentosa	Associate	25307757, 26338283, 39187782, 39212608
RHYNS syndrome	Associate	36384460
Schizophrenia	Associate	31540999
Usher syndrome type 1B	Associate	16679490, 23451239, 26791358
Usher syndrome type 1F	Associate	17277737, 22815625, 25307757, 36384460, 37232061
Usher Syndrome Type IF	Associate	19107147
Usher Syndromes	Associate	11060213, 16679490, 16963483, 17277737, 18719945, 22690115, 22815625, 24164807, 24618850, 25404053, 25575603, 26338283, 27440999, 34837038, 35580552, 35779349, 36011334 View all (2 more)
Vertigo	Associate	37198144
Vestibular Diseases	Associate	25307757

PCDH15 (protocadherin related 15)