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	92211
Gene name	Cadherin related family member 1
Gene symbol	CDHR1
Synonyms (NCBI Gene)	CORD15PCDH21PRCADRP65
Chromosome	10
Chromosome location	10q23.1
Summary	This gene belongs to the cadherin superfamily of calcium-dependent cell adhesion molecules. The encoded protein is a photoreceptor-specific cadherin that plays a role in outer segment disc morphogenesis. Mutations in this gene are associated with inherite

Show/Hide all (26)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137876961	A>G	Benign-likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, downstream transcript variant, coding sequence variant
rs141787212	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant
rs146588811	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs147346345	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant, synonymous variant
rs150969538	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, intron variant, synonymous variant
rs190906755	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs199567321	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs747425652	G>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs756678484	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs760942217	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs763399323	C>A,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs767366723	T>C,G	Pathogenic	Splice donor variant
rs781781440	->A	Pathogenic	Coding sequence variant, frameshift variant
rs786205459	T>A	Likely-pathogenic	Stop gained, coding sequence variant
rs786205613	G>-	Likely-pathogenic	Stop gained, coding sequence variant, frameshift variant
rs794726954	A>G,T	Uncertain-significance, pathogenic	Upstream transcript variant, initiator codon variant, genic upstream transcript variant, 5 prime UTR variant, missense variant
rs794727197	TCTCTGA>-	Uncertain-significance, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, intron variant, frameshift variant, genic downstream transcript variant
rs878853347	->C	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs886041900	G>A,T	Pathogenic	Splice acceptor variant
rs886044648	GCACCATC>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant, genic downstream transcript variant
rs1477733493	T>G	Likely-pathogenic	Coding sequence variant, stop gained
rs1554857529	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1589300382	G>A	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1589306127	C>T	Pathogenic	Coding sequence variant, stop gained
rs1589307705	G>-	Pathogenic	Coding sequence variant, splice donor variant
rs1589313739	CAAA>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, downstream transcript variant

Show/Hide all (67)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048768	hsa-miR-93-5p	CLASH	23622248
MIRT879968	hsa-miR-103a	CLIP-seq
MIRT879969	hsa-miR-107	CLIP-seq
MIRT879970	hsa-miR-146a	CLIP-seq
MIRT879971	hsa-miR-146b-5p	CLIP-seq
MIRT879972	hsa-miR-15a	CLIP-seq
MIRT879973	hsa-miR-15b	CLIP-seq
MIRT879974	hsa-miR-16	CLIP-seq
MIRT879975	hsa-miR-195	CLIP-seq
MIRT879976	hsa-miR-424	CLIP-seq
MIRT879977	hsa-miR-4524	CLIP-seq
MIRT879978	hsa-miR-497	CLIP-seq
MIRT879979	hsa-miR-503	CLIP-seq
MIRT879980	hsa-miR-589	CLIP-seq
MIRT879981	hsa-miR-646	CLIP-seq
MIRT879982	hsa-let-7a	CLIP-seq
MIRT879983	hsa-let-7b	CLIP-seq
MIRT879984	hsa-let-7c	CLIP-seq
MIRT879985	hsa-let-7d	CLIP-seq
MIRT879986	hsa-let-7e	CLIP-seq
MIRT879987	hsa-let-7f	CLIP-seq
MIRT879988	hsa-let-7g	CLIP-seq
MIRT879989	hsa-let-7i	CLIP-seq
MIRT879990	hsa-miR-122	CLIP-seq
MIRT879991	hsa-miR-1245b-3p	CLIP-seq
MIRT879992	hsa-miR-1294	CLIP-seq
MIRT879993	hsa-miR-1910	CLIP-seq
MIRT879994	hsa-miR-194	CLIP-seq
MIRT879995	hsa-miR-202	CLIP-seq
MIRT879996	hsa-miR-3064-5p	CLIP-seq
MIRT879997	hsa-miR-3126-5p	CLIP-seq
MIRT879998	hsa-miR-3135b	CLIP-seq
MIRT879999	hsa-miR-3529	CLIP-seq
MIRT880000	hsa-miR-3605-5p	CLIP-seq
MIRT880001	hsa-miR-3607-5p	CLIP-seq
MIRT880002	hsa-miR-3652	CLIP-seq
MIRT880003	hsa-miR-379	CLIP-seq
MIRT880004	hsa-miR-3915	CLIP-seq
MIRT880005	hsa-miR-3918	CLIP-seq
MIRT880006	hsa-miR-3927	CLIP-seq
MIRT880007	hsa-miR-3928	CLIP-seq
MIRT880008	hsa-miR-4316	CLIP-seq
MIRT880009	hsa-miR-4419a	CLIP-seq
MIRT880010	hsa-miR-4430	CLIP-seq
MIRT880011	hsa-miR-4436b-3p	CLIP-seq
MIRT880012	hsa-miR-4458	CLIP-seq
MIRT880013	hsa-miR-4500	CLIP-seq
MIRT880014	hsa-miR-4505	CLIP-seq
MIRT880015	hsa-miR-4510	CLIP-seq
MIRT880016	hsa-miR-4512	CLIP-seq
MIRT880017	hsa-miR-4534	CLIP-seq
MIRT880018	hsa-miR-4706	CLIP-seq
MIRT880019	hsa-miR-4729	CLIP-seq
MIRT880020	hsa-miR-4749-5p	CLIP-seq
MIRT880021	hsa-miR-4781-5p	CLIP-seq
MIRT880022	hsa-miR-499a-5p	CLIP-seq
MIRT880023	hsa-miR-542-5p	CLIP-seq
MIRT880024	hsa-miR-555	CLIP-seq
MIRT880025	hsa-miR-579	CLIP-seq
MIRT880026	hsa-miR-587	CLIP-seq
MIRT880027	hsa-miR-98	CLIP-seq
MIRT1960739	hsa-miR-105	CLIP-seq
MIRT1960740	hsa-miR-4468	CLIP-seq
MIRT879991	hsa-miR-1245b-3p	CLIP-seq
MIRT880000	hsa-miR-3605-5p	CLIP-seq
MIRT880004	hsa-miR-3915	CLIP-seq
MIRT880007	hsa-miR-3928	CLIP-seq

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
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:0008594	Process	Photoreceptor cell morphogenesis	IMP	23044944
GO:0016020	Component	Membrane	IEA
GO:0035845	Process	Photoreceptor cell outer segment organization	IMP	23044944
GO:0042622	Component	Photoreceptor outer segment membrane	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IMP	20805371
GO:0050839	Function	Cell adhesion molecule binding	IBA
GO:0098609	Process	Cell-cell adhesion	IEA

MIM	HGNC	e!Ensembl
609502	14550	ENSG00000148600

Q96JP9

Protein name

Cadherin-related family member 1 (Photoreceptor cadherin) (prCAD) (Protocadherin-21)

Protein function

Potential calcium-dependent cell-adhesion protein. May be required for the structural integrity of the outer segment (OS) of photoreceptor cells (By similarity).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00028	Cadherin	40 → 125	Cadherin domain	Domain
PF00028	Cadherin	140 → 237	Cadherin domain	Domain
PF00028	Cadherin	251 → 344	Cadherin domain	Domain
PF00028	Cadherin	477 → 567	Cadherin domain	Domain
PF00028	Cadherin	581 → 677	Cadherin domain	Domain

Sequence

MRRCRWAALALGLLRLCLAQANFAPHFFDNGVGSTNGNMALFSLPEDTPVGSHVYTLNGT
DPEGDPISYHISFDPSTRSVFSVDPTFGNITLVEELDREREDEIEAIISISDGLNLVAEK
VVILVTDANDEAPRFIQEPYVALVPEDIPAGSIIFKVHAVDRDTGSGGSVTYFLQNLHSP
FAVDRHSGVLRLQAGATLDYERSRTHYITVVAKDGGGRLHGADVVFSATTTVTVNVEDVQ
DMAPVFVGTPYYGYVYEDTLPGSEVLKVVAMDGDRGKPNRILYSLVNGNDGAFEINETSG
AISITQSPAQLQREVYELHVQVTEMSPAGSPAAQATVPVTIRIVDLNNHPPTFYGESGPQ
NRFELSMNEHPPQGEILRGLKITVNDSDQGANAKFNLQLVGPRGIFRVVPQTVLNEAQVT
IIVENSAAIDFEKSKVLTFKLLAVEVNTPEKFSSTADVVIQLLDTNDNVPKFDSLYYVAR
IPENAPGGSSVVAVTAVDPDTGPWGEVKYSTYGTGADLFLIHPSTGLIYTQPWASLDAEA
TARYNFYVKAEDMEGKYSVAEVFITLLDVNDHPPQFGKSVQKKTMVLGTPVKIEAIDEDA
EEPNNLVDYSITHAEPANVFDINSHTGEIWLKNSIRSLDALHNITPGRDCLWSLEVQAKD
RGSPSFSTTALLKIDITDAETLSRSPMAAFLIQTKDNPMKAVGVLAGTMATVVAITVLIS
TATFWRNKKSNKVLPMRRVLRKRPSPAPRTIRIEWLKSKSTKAATKFMLKEKPPNENCNN
NSPESSLLPRAPALPPPPSVAPSTGAAQWTVPTVSGSLTPQPTQPPPKPKTMGSPVQSTL
ISELKQKFEKKSVHNKAYF

Sequence length

859

Interactions

View interactions

348

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
CDHR1-related disorder	Likely pathogenic; Pathogenic	rs750895925, rs547198427	RCV003399208 RCV003393836
Cone dystrophy	Likely pathogenic; Pathogenic	rs794727197	RCV000626977
Cone-rod dystrophy	Likely pathogenic; Pathogenic	rs142980820, rs1589306127, rs767366723	RCV004017867 RCV002267755 RCV002267756
Cone-rod dystrophy 15	Pathogenic; Likely pathogenic	rs373978786, rs2132782773, rs1842216995, rs751972593, rs1346965647, rs1842385241, rs794727197, rs886041900, rs2492497251, rs781781440, rs756678484, rs1589307705, rs767366723, rs373412516, rs1183979115	RCV001591909 RCV001591910 RCV002227535 RCV005232754 RCV005863512 RCV005631089 RCV001199122 RCV001376330 RCV005356459 RCV000001742 RCV005230985 RCV000988399 RCV003159169 RCV005912449 RCV001198796
Leber congenital amaurosis	Pathogenic	rs781781440	RCV000787810
Macular dystrophy, retinal, 5	Likely pathogenic; Pathogenic	rs1842216995, rs794727197, rs1446751435	RCV003222341 RCV003221835 RCV003159259
Retinal dystrophy	Pathogenic; Likely pathogenic	rs1346965647, rs794727197, rs878853347, rs1554857529, rs756678484, rs747425652, rs767366723, rs1842189258, rs760608593, rs1842324166, rs547198427	RCV004815678 RCV001075783 RCV000225405 RCV000504869 RCV000505058 RCV001073798 RCV001073372 RCV001073996 RCV001075169 RCV001075052 RCV001073921
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs1842216995, rs794727197, rs781781440, rs1477733493, rs794726954, rs1589313739, rs867166472	RCV001724851 RCV000504886 RCV001723582 RCV000504623 RCV001002928 RCV001002933 RCV001724270
Retinitis pigmentosa 65	Likely pathogenic; Pathogenic	rs794727197, rs1257781536, rs1395276529, rs756678484, rs747425652	RCV003221834 RCV003159256 RCV003159257 RCV000030832 RCV000030831

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Clear cell carcinoma of kidney	Benign; Likely benign	rs116594644	RCV005894271
Colon adenocarcinoma	Conflicting classifications of pathogenicity	rs147346345	RCV005891892
Colorectal cancer	Conflicting classifications of pathogenicity	rs147346345	RCV005891896
Cone-Rod Dystrophy, Recessive	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	rs3814213, rs3814212, rs190906755, rs11593005, rs79239487, rs4933975, rs74145715, rs7086200, rs4933977, rs116594644, rs10749482, rs45584033, rs12781048, rs140621272, rs41291356 View all (26 more)	RCV000365022 RCV000369561 RCV000373058 RCV000270121 RCV000327491 RCV000378774 RCV000286661 RCV000399529 RCV000261732 RCV000400514 RCV000266091 RCV000310349 RCV000314636 RCV000382785 RCV000275035 RCV000404720 RCV000397405 RCV000338088 RCV000362386 RCV000333669 RCV000317185 RCV000344509 RCV000368940 RCV000301025 RCV000355826 RCV000341372 RCV000264133 RCV000337935 RCV000329940 RCV000375154 RCV000341279 RCV000282966 RCV000376946 RCV000397309 RCV000397302 RCV000368126 RCV000369498 RCV000347346 RCV000359042 RCV000265890 RCV000395140 RCV000279680
Familial cancer of breast	Conflicting classifications of pathogenicity	rs147346345	RCV005891891
Gastric cancer	Conflicting classifications of pathogenicity	rs147346345	RCV005891897
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs147346345	RCV005891895
maculopathy	Uncertain significance	rs1589300382	RCV001002929
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs147346345	RCV005891894
Melanoma	Conflicting classifications of pathogenicity	rs147346345	RCV005891898
Optic atrophy	Conflicting classifications of pathogenicity	rs147346345, rs532268197	RCV004816533 RCV004813859
Ovarian serous cystadenocarcinoma	Benign	rs115146172	RCV005916821
Papillary renal cell carcinoma type 1	Conflicting classifications of pathogenicity	rs147346345	RCV005891893

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	26998897
Atrophy	Associate	35627310
Cone Dystrophy	Associate	26957898, 28765526
Cone Rod Dystrophies	Associate	23233793, 24265541, 26957898, 28765526, 31136651, 35627310, 35656873, 36837600
Heart Diseases	Associate	24265541
Hypertensive Retinopathy	Associate	24265541, 25515582, 35627310
Macular Degeneration	Associate	32681094, 35627310
Neoplasms	Associate	26998897
Nerve Degeneration	Associate	16288196
Night Blindness	Associate	20087419, 23044944
Retinal Degeneration	Associate	20087419, 23044944, 23233793
Retinal Diseases	Associate	24265541
Retinal Dystrophies	Associate	16288196, 20087419, 21677792, 26350383, 27391102, 28765526, 32681094, 35627310
Retinitis Pigmentosa	Associate	28765526, 35656873
Tourette Syndrome	Associate	33837273
Usher syndrome type 1D	Associate	16288196
Usher Syndromes	Associate	35656873
Vision Disorders	Associate	23044944

CDHR1 (cadherin related family member 1)