CDHR1 - cadherin related family member 1 Gene

Also Known as RP65; PRCAD; CORD15; PCDH21

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 92211

About CDHR1

Cytogenetic location: 10q23.1 Genomic coordinates (GRCh38): 10:84,194,537-84,219,621 (from NCBI)

This gene has 7 transcripts (splice variants), 255 orthologues, 33 paralogues and is associated with 4 phenotypes. Biased expression in skin (RPKM 98.8), colon (RPKM 10.9) and 1 other tissue.

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 inherited retinal dystrophies. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2013]

CDHR1 Products (2)

mRNA Protein Name
NM_001171971.3 NP_001165442.1 cadherin-related family member 1 isoform 2 precursor
NM_033100.4 NP_149091.1 cadherin-related family member 1 isoform 1 precursor

Gene Ontology

  • Biological Process
Biological Process GO Annotation Evidence References Source
involved in photoreceptor cell maintenance IMP
IMP: Inferred from mutant phenotype
20805371 GOA
involved in photoreceptor cell morphogenesis IMP
IMP: Inferred from mutant phenotype
23044944 GOA
involved in photoreceptor cell outer segment organization IMP
IMP: Inferred from mutant phenotype
23044944 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CDHR1 Protein Structure

Cadherin

Cadherin: Cadherin domain (42 - 113)

Cadherin

Cadherin: Cadherin domain (140 - 237)

Cadherin

Cadherin: Cadherin domain (253 - 343)

Cadherin

Cadherin: Cadherin domain (477 - 566)

Cadherin

Cadherin: Cadherin domain (589 - 676)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 859 a.a.
Protein Preferred Names Protein Names

cadherin-related family member 1

  • MT-protocadherin

Related Diseases

Diseases Alias
Cone-Rod Dystrophy 15

  • Retinitis Pigmentosa 65

  • CORD15

  • Dystrophy, Cone-Rod, Type 15
Cone-Rod Dystrophy 2

  • Cone-Rod Dystrophy

  • CORD2

  • Cone-Rod Retinal Dystrophy

  • Rcrd2

  • Cone-Rod Retinal Dystrophy 2

  • Crd2

  • Cord

  • Crd

  • Retinal Cone-Rod Dystrophy

  • Cone-Rod Retinal Dystrophy-2

  • Retinal Cone-Rod Dystrophy 2

  • Tapetoretinal Degeneration

  • Cone-Rod Degeneration

  • Cone Rod Dystrophy

  • Dystrophy, Cone-Rod

  • Dystrophy, Cone-Rod, Type 2

  • Retinitis Pigmentosa

  • Retinitis Pigmentosa 2

  • Progressive Cone-Rod Dystrophy
Retinitis Pigmentosa

  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1
Fundus Dystrophy

  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal
Leber Plus Disease

  • Leber Congenital Amaurosis

  • Lca

  • Leber'S Amaurosis

  • Leber'S Disease

  • Amaurosis Congenita Of Leber

  • Amaurosis Congenita Of Leber, Type 1

  • Lhon Plus Disease

  • Congenital Absence Of The Rods And Cones

  • Congenital Retinal Blindness

  • Crb

  • Congenital Amaurosis Of Retinal Origin

  • Leber'S Congenital Amaurosis

  • Leber Congenital Amaurosis 1

  • Leber'S Congenital Tapetoretinal Degeneration

  • Leber'S Congenital Tapetoretinal Dysplasia

  • Lca1

  • Leber Congenital Amaurosis Type 1

  • Retinal Blindness, Congenital

  • Amaurosis, Leber Congenital

  • Dysgenesis Neuroepithelialis Retinae

  • Hereditary Epithelial Dysplasia Of Retina

  • Hereditary Retinal Aplasia

  • Heredoretinopathia Congenitalis

  • Leber Abiotrophy

  • Leber Congenital Tapetoretinal Degeneration

  • Lebers Congenital Amaurosis

  • Optic Atrophy, Hereditary, Leber
Retinitis Pigmentosa 61

  • RP61

  • Retinitis Pigmentosa, Type 61
Hereditary Choroidal Atrophy

  • Hereditary Choroidal Dystrophy
Partial Central Choroid Dystrophy

  • Choroidal Dystrophy, Central Areolar
Solar Retinopathy

  • Solar Retinitis
Choroidal Dystrophy, Central Areolar, 1

  • Choroidal Sclerosis

  • Choroidal Dystrophy

  • Choroidal Dystrophy, Central Areolar

  • Cacd

  • Central Areolar Choroidal Dystrophy

  • CACD1

  • Choroidal Dystrophy, Central Areolar 1

  • Choroidal Dystrophy Central Areolar

  • Central Areolar Choroidal Sclerosis

  • Choroidal Degenerations

  • Areolar Atrophy Of The Macula

  • Partial Central Choroid Dystrophy

  • Degenerative Choroidopathy

  • Chorioretinal Degeneration

  • Hereditary Chorioretinal Degeneration

  • Hereditary Degeneration Of Choroid

  • Hereditary Choroidal Dystrophies

  • Generalised Choroidal Dystrophy

  • Hereditary Choroidopathy
Retinitis Pigmentosa 26

  • RP26

  • Retinitis Pigmentosa-26

  • Retinitis Pigmentosa, Type 26
Retinal Degeneration

  • Degeneration Of Retina
Usher Syndrome, Type Id

  • Usher Syndrome Type 1d

  • USH1D

  • Usher Syndrome, Type 1d

  • Usher Syndrome Type Id

  • Usher Syndrome, Type Id/F, Digenic

  • Usher Syndrome, Type 1d/F Digenic

  • Usher Syndrome 1d

  • Usher'S Syndrome Type 1d

  • Usher Syndrome 1d/F

  • USH1DF

  • Ush1d/F

  • Usher'S Syndrome Type 1h

  • Usher Syndrome 1h

  • Usher Syndrome Type Ih

  • Usher Syndrome, Type 1d/F
Retinitis Pigmentosa 12

  • RP12

  • Retinitis Pigmentosa With Or Without Paraarteriolar Preservation Of Retinal Pigment Epithelium

  • Rp With Or Without Preserved Paraarteriole Retinal Pigment Epithelium

  • Rp With Or Without Pprpe

  • Retinitis Pigmentosa-12
Scotoma

  • Enlarged Blind Spot

  • Scotoma Of Blind Spot Area

  • Blind Spot Area Scotoma

  • Enlarged Angioscotoma

  • Enlarged Paracaecal Scotoma

  • Generalized Visual Field Contraction Or Constriction

  • Sector Or Arcuate Visual Field Defects
Usher Syndrome Type 2

  • Ush2

  • Usher Syndrome Type Ii
Usher Syndrome, Type Iia

  • Usher Syndrome Type 2a

  • USH2A

  • Usher Syndrome, Type 2a

  • Usher Syndrome Type Iia

  • Retinal Disease In Usher Syndrome Type Iia, Modifier Of

  • Us2

  • Ush2

  • Usher Syndrome 2a

  • Usher'S Syndrome Type 2a

  • Ushiia
Achromatopsia

  • Achm

  • Rod Monochromatism

  • Total Color Blindness

  • Rod Monochromacy

  • Monochromatism

  • Achromatism

  • Complete Or Incomplete Color Blindness

  • Pingelapese Blindness

  • Achromatopsia 1

  • Achromatopsia 2

  • Achromatopsia 3
Cone Dystrophy

  • Retinal Cone Dystrophy

  • Dystrophy, Cone

  • Cone Dystrophy 3
Stargardt Disease

  • Stargardt Disease 1

  • Stargardt Macular Dystrophy

  • Stargardt Disease-1

  • Juvenile Onset Macular Degeneration

  • Stargardt Macular Degeneration

  • Juvenile Macular Degeneration

  • Macular Dystrophy With Flecks, Type 1

  • Stgd

  • Fundus Flavimaculatus

  • Stargardt 1

  • Stargardts Disease
Usher Syndrome, Type I

  • USH1

  • Usher Syndrome Type 1

  • Us1

  • Usher Syndrome, Type 1b

  • Usher Syndrome Type 1e

  • Retinitis Pigmentosa And Congenital Deafness

  • Usher Syndrome, Type Ie

  • USH1E

  • Usher Syndrome, Type 1e

  • Usher Syndrome, Type 1a

  • Usher Syndrome, Type Ib

  • Usher Syndrome Type 1b

  • Usher Syndrome Type Ie

  • Usher Syndrome Type I

  • Usher 1

  • Usher Syndrome, Type 1

  • Ush1a

  • Usher Syndrome, Type I, French Variety

  • Usher Syndrome, Type Ia

  • Usher Syndrome 1b

  • USH1B

  • Usher'S Syndrome Type 1b

  • Usher Syndrome Type Ib

  • Ushib
Usher Syndrome

  • Deafness-Retinitis Pigmentosa Syndrome

  • Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

  • Graefe-Usher Syndrome

  • Hallgren Syndrome

  • Usher'S Syndrome

  • Retinitis Pigmentosa-Deafness Syndrome

  • Retinitis Pigmentosa-Hearing Loss Syndrome

  • Ush

  • Usher Syndromes
Nanophthalmos

  • Nanophthalmia
Congenital Stationary Night Blindness

  • Night Blindness, Congenital Stationary

  • Congenital Essential Nyctalopia

  • Oguchi Disease

  • Blindness, Night, Stationary, Congenital
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS02343 CDHR1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS20876 Cdhr1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27393 Cdhr1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta CDHR1 VGNC VGNC:70952
Mus musculus CDHR1 MGD MGI:2157782
Canis familiaris CDHR1 VGNC VGNC:39037
Rattus norvegicus CDHR1 RGD RGD:620420
Bos taurus CDHR1 VGNC VGNC:27108
Felis catus CDHR1 VGNC VGNC:60688
Others CDHR1 NCBI