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.	64072
Gene name Gene Name - the full gene name approved by the HGNC.	Cadherin related 23
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CDH23
Synonyms (NCBI Gene) Gene synonyms aliases	CDHR23, PITA5, USH1D
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10q22.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region

Show/Hide all(138)

SNP ID	Visualize variation	Clinical significance	Consequence
rs55947063	AGAG>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, genic downstream transcript variant
rs71012280	AGGCGAGGCG>-,AGGCG,AGGCGAGGCGAGGCG,AGGCGAGGCGAGGCGAGGCG,AGGCGAGGCGAGGCGAGGCGAGGCGAGGCG	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign	5 prime UTR variant, genic upstream transcript variant
rs111033270	G>A	Pathogenic	Genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs111033271	G>A	Pathogenic, likely-pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs111033458	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs111033473	G>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, genic upstream transcript variant, coding sequence variant
rs111033487	C>A,T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs111033536	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs121908349	G>A,T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs121908352	T>C	Pathogenic	Genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs121908353	C>G,T	Pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs121908354	C>T	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs121908355	G>A,C	Pathogenic, uncertain-significance	Missense variant, genic upstream transcript variant, coding sequence variant
rs139287714	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs142788731	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, synonymous variant, genic upstream transcript variant, coding sequence variant
rs142857685	G>C	Conflicting-interpretations-of-pathogenicity, benign	Genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs181255269	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-pathogenic, benign-likely-benign	Coding sequence variant, genic downstream transcript variant, missense variant, genic upstream transcript variant
rs181611778	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, missense variant, genic upstream transcript variant
rs185105210	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, synonymous variant, genic upstream transcript variant
rs186394654	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, synonymous variant, genic upstream transcript variant
rs188098974	A>G	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, missense variant, genic downstream transcript variant, genic upstream transcript variant
rs188376296	G>A	Likely-benign, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, genic upstream transcript variant
rs191021194	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant, genic upstream transcript variant
rs191154178	A>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant, genic upstream transcript variant
rs200324241	C>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, synonymous variant, genic upstream transcript variant
rs200649500	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant, genic upstream transcript variant
rs201024982	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, genic downstream transcript variant, synonymous variant, genic upstream transcript variant
rs201053044	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant, genic upstream transcript variant
rs201297042	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant, genic upstream transcript variant
rs201536811	C>A,T	Uncertain-significance, likely-pathogenic	Missense variant, genic downstream transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs201733315	G>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, genic upstream transcript variant, synonymous variant, genic downstream transcript variant
rs202052174	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, missense variant
rs368828743	G>A	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, missense variant
rs368848049	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, missense variant
rs369396703	G>A	Likely-pathogenic, uncertain-significance	Genic upstream transcript variant, genic downstream transcript variant, intron variant
rs369501114	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, missense variant
rs370554545	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, missense variant
rs370568585	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs370983472	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, synonymous variant, genic downstream transcript variant
rs371932558	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, synonymous variant, genic downstream transcript variant
rs372388344	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs373269394	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, synonymous variant, genic downstream transcript variant
rs373631099	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, synonymous variant, genic downstream transcript variant
rs375292899	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs375358318	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, synonymous variant, genic downstream transcript variant
rs375907609	C>A,T	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, synonymous variant, genic downstream transcript variant, upstream transcript variant
rs376560330	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, missense variant
rs376881824	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant, genic downstream transcript variant, upstream transcript variant
rs397517305	GCCATCCCACTGGACTACGAG>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, inframe deletion
rs397517313	T>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs397517331	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs397517337	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, genic downstream transcript variant
rs397517341	G>A	Pathogenic	Genic upstream transcript variant, splice donor variant, genic downstream transcript variant
rs397517342	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, synonymous variant, genic downstream transcript variant
rs397517349	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, missense variant
rs397517350	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs397517353	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, genic downstream transcript variant
rs397517354	G>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, missense variant
rs397517362	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, genic downstream transcript variant
rs397517367	TCAA>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs540567272	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs547034667	G>A	Likely-pathogenic	Genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs550384315	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs727502919	G>A,T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs727502931	G>A	Pathogenic	Genic downstream transcript variant, intron variant, genic upstream transcript variant
rs727502933	A>T	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, splice acceptor variant
rs727504455	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, genic downstream transcript variant
rs727504761	ACTGGGAG>-	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs745571683	G>A,C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, genic downstream transcript variant
rs747955135	G>-	Pathogenic-likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs750027965	C>T	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs750803248	->G	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs753886326	C>-,CC	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs756147087	G>A	Pathogenic, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant
rs756336099	C>G,T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs758382198	A>C,T	Pathogenic	Missense variant, genic upstream transcript variant, genic downstream transcript variant, coding sequence variant
rs761913744	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, genic downstream transcript variant, genic upstream transcript variant
rs763721044	G>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant
rs769433759	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant, genic downstream transcript variant
rs769742202	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, stop gained
rs773464867	C>G,T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, stop gained
rs775093336	AC>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, frameshift variant
rs776354402	G>A,C,T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs778251205	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs786205612	CGC>-	Likely-pathogenic	Coding sequence variant, inframe deletion, upstream transcript variant, genic upstream transcript variant, genic downstream transcript variant
rs876657636	G>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs876657680	G>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, missense variant, splice donor variant
rs876657682	G>C	Pathogenic	Genic upstream transcript variant, splice acceptor variant, genic downstream transcript variant
rs876657756	A>G	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs878853337	C>G,T	Likely-benign, pathogenic, likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, synonymous variant
rs1039517349	G>T	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1052484950	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1057519500	G>A	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1057520662	G>T	Pathogenic	Genic upstream transcript variant, genic downstream transcript variant, splice donor variant
rs1057524265	G>A	Likely-pathogenic	Genic upstream transcript variant, genic downstream transcript variant, splice donor variant
rs1060499714	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant, genic upstream transcript variant
rs1060499788	A>T	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1060499789	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1060499790	T>C	Pathogenic	Genic upstream transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1060499791	C>T	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1060499792	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1060499793	G>A	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1064795044	->TGGCTGTA	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1064795722	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant, genic upstream transcript variant
rs1190307769	C>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, upstream transcript variant
rs1200012430	C>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs1230303971	C>A,T	Pathogenic	Stop gained, genic upstream transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs1264310782	G>A	Pathogenic	Genic upstream transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs1270566026	G>A	Pathogenic	Genic upstream transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs1278603247	T>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, frameshift variant
rs1292050472	G>A	Pathogenic	Synonymous variant, genic downstream transcript variant, genic upstream transcript variant, coding sequence variant
rs1344509500	G>T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, genic downstream transcript variant, stop gained
rs1377982927	A>G	Likely-pathogenic	Genic upstream transcript variant, genic downstream transcript variant, splice acceptor variant
rs1390562340	A>G	Pathogenic	Genic upstream transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1474524543	G>T	Pathogenic	Splice donor variant, genic upstream transcript variant, genic downstream transcript variant
rs1554856042	ACTCC>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs1554857840	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs1554858698	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs1554871816	A>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, genic downstream transcript variant
rs1554874373	G>A	Likely-pathogenic	Splice donor variant, genic upstream transcript variant, genic downstream transcript variant
rs1554874879	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, genic downstream transcript variant
rs1554874884	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, genic downstream transcript variant
rs1554874900	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant, genic downstream transcript variant
rs1554876990	C>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs1554877007	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs1554877797	G>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1554877806	C>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1564791773	G>T	Pathogenic	Splice acceptor variant, genic upstream transcript variant, genic downstream transcript variant
rs1564796487	->T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs1564796673	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, genic downstream transcript variant
rs1564803868	C>G	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs1564805114	->CGAT	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs1564807887	C>G	Likely-pathogenic	Genic upstream transcript variant, stop gained, upstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1564808024	->A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1589292855	G>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant
rs1589420011	ACGGTA>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, genic downstream transcript variant, intron variant, splice donor variant
rs1589424694	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1589438942	G>A	Likely-pathogenic	Genic downstream transcript variant, 5 prime UTR variant, splice acceptor variant

Show/Hide all(48)

miRTarBase ID	miRNA	Experiments
MIRT879809	hsa-miR-342-5p	CLIP-seq
MIRT879810	hsa-miR-4433	CLIP-seq
MIRT879811	hsa-miR-4481	CLIP-seq
MIRT879812	hsa-miR-4651	CLIP-seq
MIRT879813	hsa-miR-4664-5p	CLIP-seq
MIRT879814	hsa-miR-4745-5p	CLIP-seq
MIRT879815	hsa-miR-608	CLIP-seq
MIRT879816	hsa-miR-665	CLIP-seq
MIRT879809	hsa-miR-342-5p	CLIP-seq
MIRT879810	hsa-miR-4433	CLIP-seq
MIRT879811	hsa-miR-4481	CLIP-seq
MIRT879812	hsa-miR-4651	CLIP-seq
MIRT879813	hsa-miR-4664-5p	CLIP-seq
MIRT879814	hsa-miR-4745-5p	CLIP-seq
MIRT879815	hsa-miR-608	CLIP-seq
MIRT879816	hsa-miR-665	CLIP-seq
MIRT2446669	hsa-miR-122	CLIP-seq
MIRT2446670	hsa-miR-1267	CLIP-seq
MIRT2446671	hsa-miR-3135b	CLIP-seq
MIRT2446672	hsa-miR-3652	CLIP-seq
MIRT2446673	hsa-miR-3664-5p	CLIP-seq
MIRT2446674	hsa-miR-4423-5p	CLIP-seq
MIRT2446675	hsa-miR-4430	CLIP-seq
MIRT2446676	hsa-miR-4492	CLIP-seq
MIRT2446677	hsa-miR-4498	CLIP-seq
MIRT2446678	hsa-miR-4639-3p	CLIP-seq
MIRT2446679	hsa-miR-624	CLIP-seq
MIRT2446680	hsa-miR-762	CLIP-seq
MIRT2500670	hsa-miR-1915	CLIP-seq
MIRT2500671	hsa-miR-2355-5p	CLIP-seq
MIRT2500672	hsa-miR-4270	CLIP-seq
MIRT879810	hsa-miR-4433	CLIP-seq
MIRT2500673	hsa-miR-4441	CLIP-seq
MIRT2500674	hsa-miR-4459	CLIP-seq
MIRT2500675	hsa-miR-455-3p	CLIP-seq
MIRT2500676	hsa-miR-4676-5p	CLIP-seq
MIRT2500677	hsa-miR-4768-3p	CLIP-seq
MIRT2500678	hsa-miR-575	CLIP-seq
MIRT2500670	hsa-miR-1915	CLIP-seq
MIRT2500671	hsa-miR-2355-5p	CLIP-seq
MIRT2500672	hsa-miR-4270	CLIP-seq
MIRT879810	hsa-miR-4433	CLIP-seq
MIRT2500673	hsa-miR-4441	CLIP-seq
MIRT2500674	hsa-miR-4459	CLIP-seq
MIRT2500675	hsa-miR-455-3p	CLIP-seq
MIRT2500676	hsa-miR-4676-5p	CLIP-seq
MIRT2500677	hsa-miR-4768-3p	CLIP-seq
MIRT2500678	hsa-miR-575	CLIP-seq

Show/Hide all(42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	12485990
GO:0005813	Component	Centrosome	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006816	Process	Calcium ion transport	IMP	17234811
GO:0007155	Process	Cell adhesion	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007605	Process	Sensory perception of sound	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	16679490, 17234811
GO:0007626	Process	Locomotory behavior	IEA
GO:0008013	Function	Beta-catenin binding	IBA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	11138009
GO:0016339	Process	Calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	NAS	11138009
GO:0016342	Component	Catenin complex	IBA
GO:0016477	Process	Cell migration	IBA
GO:0031175	Process	Neuron projection development	IBA
GO:0032420	Component	Stereocilium	IEA
GO:0032420	Component	Stereocilium	ISS	12485990
GO:0032426	Component	Stereocilium tip	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042491	Process	Inner ear auditory receptor cell differentiation	IEA
GO:0045202	Component	Synapse	IEA
GO:0045296	Function	Cadherin binding	IBA
GO:0045494	Process	Photoreceptor cell maintenance	IMP	16679490
GO:0046872	Function	Metal ion binding	IEA
GO:0048839	Process	Inner ear development	IEA
GO:0050953	Process	Sensory perception of light stimulus	IEA
GO:0050953	Process	Sensory perception of light stimulus	IMP	16679490
GO:0050957	Process	Equilibrioception	IMP	16679490
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	IMP	17234811
GO:0060088	Process	Auditory receptor cell stereocilium organization	IEA
GO:0060091	Component	Kinocilium	IEA
GO:0060122	Process	Inner ear receptor cell stereocilium organization	IEA
GO:0090102	Process	Cochlea development	IEA
GO:0098683	Component	Cochlear hair cell ribbon synapse	IEA
GO:0098684	Component	Photoreceptor ribbon synapse	IEA
GO:0098742	Process	Cell-cell adhesion via plasma-membrane adhesion molecules	IBA

MIM	HGNC	e!Ensembl
605516	13733	ENSG00000107736

Protein

UniProt ID

Q9H251

Protein name

Cadherin-23 (Otocadherin)

Protein function

Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bun

PDB

2KBR , 2KBS , 2LSR , 5TFM , 5VVM , 5WJ8

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00028	Cadherin	39 → 122	Cadherin domain	Domain
PF00028	Cadherin	137 → 227	Cadherin domain	Domain
PF00028	Cadherin	241 → 337	Cadherin domain	Domain
PF00028	Cadherin	465 → 552	Cadherin domain	Domain
PF00028	Cadherin	566 → 662	Cadherin domain	Domain
PF00028	Cadherin	676 → 769	Cadherin domain	Domain
PF00028	Cadherin	783 → 879	Cadherin domain	Domain
PF00028	Cadherin	895 → 986	Cadherin domain	Domain
PF00028	Cadherin	1000 → 1093	Cadherin domain	Domain
PF00028	Cadherin	1107 → 1199	Cadherin domain	Domain
PF00028	Cadherin	1215 → 1304	Cadherin domain	Domain
PF00028	Cadherin	1318 → 1409	Cadherin domain	Domain
PF00028	Cadherin	1424 → 1518	Cadherin domain	Domain
PF00028	Cadherin	1533 → 1625	Cadherin domain	Domain
PF00028	Cadherin	1639 → 1735	Cadherin domain	Domain
PF00028	Cadherin	1751 → 1842	Cadherin domain	Domain
PF00028	Cadherin	1856 → 1940	Cadherin domain	Domain
PF00028	Cadherin	2074 → 2165	Cadherin domain	Domain
PF00028	Cadherin	2179 → 2284	Cadherin domain	Domain
PF00028	Cadherin	2301 → 2393	Cadherin domain	Domain
PF00028	Cadherin	2407 → 2500	Cadherin domain	Domain
PF00028	Cadherin	2514 → 2602	Cadherin domain	Domain
PF00028	Cadherin	2619 → 2712	Cadherin domain	Domain
PF00028	Cadherin	2733 → 2823	Cadherin domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Particularly strong expression in the retina (PubMed:11138009). Found also in the cochlea. {ECO:0000269|PubMed:11138009}.

Sequence

MGRHVATSCHVAWLLVLISGCWGQVNRLPFFTNHFFDTYLLISEDTPVGSSVTQLLAQDM
DNDPLVFGVSGEEASRFFAVEPDTGVVWLRQPLDRETKSEFTVEFSVSDHQGVITRKVNI
QVGDVNDNAPTFHNQPYSVRIPENTPVGTPIFIVNATDPDLGAGGSVLYSFQPPSQFFAI
DSARGIVTVIRELDYETTQAYQLTVNATDQDKTRPLSTLANLAIIITDVQDMDPIFINLP
YSTNIYEHSPPGTTVRIITAIDQDKGRPRGIGYTIVSGNTNSIFALDYISGVLTLNGLLD
RENPLYSHGFILTVKGTELNDDRTPSDATVTTTFNILVIDINDNAPEFNSSEYSVAITEL
AQVGFALPLFIQVVDKDENLGLNSMFEVYLVGNNSHHFIISPTSVQGKADIRIRVAIPLD
YETVDRYDFDLFANESVPDHVGYAKVKITLINENDNRPIFSQPLYNISLYENVTVGTSVL
TVLATDNDAGTFGEVSYFFSDDPDRFSLDKDTGLIMLIARLDYELIQRFTLTIIARDGGG
EETTGRVRINVLDVNDNVPTFQKDAYVGALRENEPSVTQLVRLRATDEDSPPNNQITYSI
VSASAFGSYFDISLYEGYGVISVSRPLDYEQISNGLIYLTVMAMDAGNPPLNSTVPVTIE
VFDENDNPPTFSKPAYFVSVVENIMAGATVLFLNATDLDRSREYGQESIIYSLEGSTQFR
INARSGEITTTSLLDRETKSEYILIVRAVDGGVGHNQKTGIATVNITLLDINDNHPTWKD
APYYINLVEMTPPDSDVTTVVAVDPDLGENGTLVYSIQPPNKFYSLNSTTGKIRTTHAML
DRENPDPHEAELMRKIVVSVTDCGRPPLKATSSATVFVNLLDLNDNDPTFQNLPFVAEVL
EGIPAGVSIYQVVAIDLDEGLNGLVSYRMPVGMPRMDFLINSSSGVVVTTTELDRERIAE
YQLRVVASDAGTPTKSSTSTLTIHVLDVNDETPTFFPAVYNVSVSEDVPREFRVVWLNCT
DNDVGLNAELSYFITGGNVDGKFSVGYRDAVVRTVVGLDRETTAAYMLILEAIDNGPVGK
RHTGTATVFVTVLDVNDNRPIFLQSSYEASVPEDIPEGHSILQLKATDADEGEFGRVWYR
ILHGNHGNNFRIHVSNGLLMRGPRPLDRERNSSHVLIVEAYNHDLGPMRSSVRVIVYVED
INDEAPVFTQQQYSRLGLRETAGIGTSVIVVQATDRDSGDGGLVNYRILSGAEGKFEIDE
STGLIITVNYLDYETKTSYMMNVSATDQAPPFNQGFCSVYITLLNELDEAVQFSNASYEA
AILENLALGTEIVRVQAYSIDNLNQITYRFNAYTSTQAKALFKIDAITGVITVQGLVDRE
KGDFYTLTVVADDGGPKVDSTVKVYITVLDENDNSPRFDFTSDSAVSIPEDCPVGQRVAT
VKAWDPDAGSNGQVVFSLASGNIAGAFEIVTTNDSIGEVFVARPLDREELDHYILQVVAS
DRGTPPRKKDHILQVTILDINDNPPVIESPFGYNVSVNENVGGGTAVVQVRATDRDIGIN
SVLSYYITEGNKDMAFRMDRISGEIATRPAPPDRERQSFYHLVATVEDEGTPTLSATTHV
YVTIVDENDNAPMFQQPHYEVLLDEGPDTLNTSLITIQALDLDEGPNGTVTYAIVAGNIV
NTFRIDRHMGVITAAKELDYEISHGRYTLIVTATDQCPILSHRLTSTTTVLVNVNDINDN
VPTFPRDYEGPFEVTEGQPGPRVWTFLAHDRDSGPNGQVEYSIMDGDPLGEFVISPVEGV
LRVRKDVELDRETIAFYNLTICARDRGMPPLSSTMLVGIRVLDINDNDPVLLNLPMNITI
SENSPVSSFVAHVLASDADSGCNARLTFNITAGNRERAFFINATTGIVTVNRPLDRERIP
EYKLTISVKDNPENPRIARRDYDLLLIFLSDENDNHPLFTKSTYQAEVMENSPAGTPLTV
LNGPILALDADQDIYAVVTYQLLGAQSGLFDINSSTGVVTVRSGVIIDREAFSPPILELL
LLAEDIGLLNSTAHLLITILDDNDNRPTFSPATLTVHLLENCPPGFSVLQVTATDEDSGL
NGELVYRIEAGAQDRFLIHLVTGVIRVGNATIDREEQESYRLTVVATDRGTVPLSGTAIV
TILIDDINDSRPEFLNPIQTVSVLESAEPGTVIANITAIDHDLNPKLEYHIVGIVAKDDT
DRLVPNQEDAFAVNINTGSVMVKSPMNRELVATYEVTLSVIDNASDLPERSVSVPNAKLT
VNVLDVNDNTPQFKPFGITYYMERILEGATPGTTLIAVAAVDPDKGLNGLVTYTLLDLVP
PGYVQLEDSSAGKVIANRTVDYEEVHWLNFTVRASDNGSPPRAAEIPVYLEIVDINDNNP
IFDQPSYQEAVFEDVPVGTIILTVTATDADSGNFALIEYSLGDGESKFAINPTTGDIYVL
SSLDREKKDHYILTALAKDNPGDVASNRRENSVQVVIQVLDVNDCRPQFSKPQFSTSVYE
NEPAGTSVITMMATDQDEGPNGELTYSLEGPGVEAFHVDMDSGLVTTQRPLQSYEKFSLT
VVATDGGEPPLWGTTMLLVEVIDVNDNRPVFVRPPNGTILHIREEIPLRSNVYEVYATDK
DEGLNGAVRYSFLKTAGNRDWEFFIIDPISGLIQTAQRLDRESQAVYSLILVASDLGQPV
PYETMQPLQVALEDIDDNEPLFVRPPKGSPQYQLLTVPEHSPRGTLVGNVTGAVDADEGP
NAIVYYFIAAGNEEKNFHLQPDGCLLVLRDLDREREAIFSFIVKASSNRSWTPPRGPSPT
LDLVADLTLQEVRVVLEDINDQPPRFTKAEYTAGVATDAKVGSELIQVLALDADIGNNSL
VFYSILAIHYFRALANDSEDVGQVFTMGSMDGILRTFDLFMAYSPGYFVVDIVARDLAGH
NDTAIIGIYILRDDQRVKIVINEIPDRVRGFEEEFIHLLSNITGAIVNTDNVQFHVDKKG
RVNFAQTELLIHVVNRDTNRILDVDRVIQMIDENKEQLRNLFRNYNVLDVQPAISVRLPD
DMSALQMAIIVLAILLFLAAMLFVLMNWYYRTVHKRKLKAIVAGSAGNRGFIDIMDMPNT
NKYSFDGANPVWLDPFCRNLELAAQAEHEDDLPENLSEIADLWNSPTRTHGTFGREPAAV
KPDDDRYLRAAIQEYDNIAKLGQIIREGPIKGSLLKVVLEDYLRLKKLFAQRMVQKASSC
HSSISELIQTELDEEPGDHSPGQGSLRFRHKPPVELKGPDGIHVVHGSTGTLLATDLNSL
PEEDQKGLGRSLETLTAAEATAFERNARTESAKSTPLHKLRDVIMETPLEITEL

Sequence length

3354

Interactions

View interactions

Show/Hide Causal Diseases (7)

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 12, Childhood onset hearing loss	rs397517323, rs750880909, rs111033270, rs121908352, rs1564795354, rs1060499788, rs762226905, rs756147087, rs1344509500, rs1060499791, rs1564759653, rs1554874879, rs876657754, rs778251205, rs111033271 View all (20 more)	N/A
deafness	Deafness	rs1564805114	N/A
Hearing Loss	Hearing loss, autosomal recessive	rs367928692, rs762226905, rs771766431, rs756147087, rs121908350, rs1564805114, rs111033247, rs121908348, rs397517323, rs780917129, rs121908349	N/A
Pituitary adenoma	pituitary adenoma 5, multiple types	rs1200012430, rs936479651, rs1057524265, rs121908351, rs758382198, rs397517367, rs1221464948, rs397517327, rs1377982927, rs745571683, rs750803248, rs1862873659, rs1564808024, rs727502919, rs397517329 View all (35 more)	N/A
retinal dystrophy	Retinal dystrophy	rs764824311, rs111033270, rs1278603247, rs1865145294, rs367928692, rs769524849, rs1280991447, rs1861132418, rs762805265, rs1865149889, rs1866696630, rs1841921374, rs1190307769, rs754876029, rs769742202 View all (5 more)	N/A
Retinitis Pigmentosa	retinitis pigmentosa	rs1589420011	N/A
Usher Syndrome	Usher syndrome type 1D, usher syndrome type 1, usher syndrome, usher syndrome type 2	rs745571683, rs750803248, rs121908349, rs1564808024, rs769433759, rs111033270, rs936479651, rs1057520662, rs121908351, rs1841212177, rs1230303971, rs1253419936, rs1060499714, rs1064795722, rs397517350 View all (33 more)	N/A

Show/Hide Unknown Diseases (8)

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.
Beta-Mannosidosis	Beta-D-mannosidosis	N/A	N/A	ClinVar
Breast Cancer	Postmenopausal breast cancer	N/A	N/A	GWAS
hearing impairment	Hearing impairment	N/A	N/A	ClinVar
Ischemic Stroke	Ischemic stroke	N/A	N/A	GWAS
Meniere Disease	meniere disease	N/A	N/A	ClinVar
Optic Atrophy	optic atrophy	N/A	N/A	ClinVar
Schizophrenia	Schizophrenia	N/A	N/A	GWAS
Systemic lupus erythematosus	Systemic lupus erythematosus	N/A	N/A	GWAS

Show/Hide Text Mining Associations (50)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency	Associate	33638616
Adenocarcinoma	Inhibit	30747484
Adenocarcinoma of Lung	Inhibit	30747484
Albinism	Associate	39596324
Alzheimer Disease	Associate	25129075, 26827652
Astigmatism	Associate	37466950
Bartter Syndrome Type 4A	Associate	29986705
Bilateral Vestibulopathy	Associate	12075507
Breast Neoplasms	Associate	22413011, 32276436, 33899544
Carcinoma Squamous Cell	Inhibit	30747484
Ciliopathies	Associate	39596324
COVID 19	Associate	35328087
Deafness	Associate	22607986, 23967202, 26264712, 28900111, 29568747, 31992338, 32048449, 33095980, 33187236, 33638616, 34335733, 34997062, 35020051, 35062939, 35248088, 36597107, 39287240 View all (2 more)
Deafness Autosomal Recessive	Associate	28900111, 29568747
Deafness Autosomal Recessive 12	Associate	11090341, 27792758, 35020051, 37643494
Disease	Associate	37884635
Esophageal Squamous Cell Carcinoma	Inhibit	30747484
Gyrate Atrophy	Associate	39596324
Hearing Disorders	Associate	39684270
Hearing Loss	Associate	12075507, 15829536, 19888295, 22443853, 22899989, 23770805, 24767429, 25231367, 25963016, 26264712, 30123251, 30535804, 31322239, 32134349, 32842620 View all (12 more)
Hearing Loss Noise Induced	Associate	25484013, 30947719, 38212800
Hearing Loss Sensorineural	Associate	20146813, 26264712, 27583405, 27792758, 29986705, 35580552, 39287240, 39596651
Intestinal Atresia Multiple	Associate	40624119
Leukemia Myeloid Acute	Stimulate	35597916
Leukemia Myeloid Acute	Associate	36781600
Lymphoma Large B Cell Diffuse	Associate	34252883
Melanoma	Associate	32276436
Mental Disorders	Associate	37884635
Myopia	Associate	37884635
Neoplasm Metastasis	Associate	22413011, 34252883
Neoplasms	Associate	28413019, 30747484, 33899544, 34252883, 35597916, 36781600
Neoplastic Syndromes Hereditary	Associate	32276436
Neuroendocrine Tumors	Associate	40129208
Nonsyndromic Deafness	Associate	11090341, 12075507, 18429043, 22607986, 24767429, 26226137, 26264712, 30123251, 31858762, 32864763, 33205915, 33316915, 33638616, 34837038
Nonsyndromic sensorineural hearing loss	Associate	22899989, 24767429, 25963016, 27792758, 28383030, 31322239, 35020051, 39287240
Nonsyndromic sensorineural hearing loss	Stimulate	26445815
Osteoporosis	Associate	33270084, 35020051
Otitis Media	Associate	33693626
Pituitary ACTH Hypersecretion	Associate	36359740
Pituitary Adenoma Familial Isolated	Associate	28413019
Pituitary Neoplasms	Associate	28413019
Retinal Cone Dystrophy 1	Associate	39596324
Retinal Degeneration	Associate	33507217
Retinal Dystrophies	Associate	39596324
Retinal Vein Occlusion	Associate	25231367
Retinitis Pigmentosa	Associate	12075507, 32795431, 35020051
Usher syndrome type 1B	Associate	16679490, 26791358, 31546658
Usher syndrome type 1D	Associate	11090341, 16288196, 18429043, 25963016, 33316915, 35020051, 40184886
Usher Syndrome Type ID	Associate	35020051
Usher Syndromes	Associate	12075507, 16679490, 18429043, 24164807, 25211151, 25404053, 25575603, 27583663, 31546658, 34837038, 35580552, 36011334, 39337481, 40184886

CDH23 (cadherin related 23)