CDHR1: Cadherin-Related Family Member 1
A key gene in photoreceptor integrity and inherited retinal dystrophies
Gene Information Card
| Symbol | CDHR1 |
|---|---|
| Full Name | Cadherin-Related Family Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q23.1 |
| NCBI Gene ID | 92211 ncbi.nlm.nih.gov/gene/92211 |
| Ensembl ID | ENSG00000148672 |
| UniProt ID | Q96JP9 |
| OMIM ID | 609502 |
| HGNC ID | 14500 |
| Aliases | PCDH21, PRCAD, VRSY |
Description
CDHR1 (cadherin-related family member 1) encodes a photoreceptor-specific cadherin essential for the structural integrity of outer segments in rod and cone cells. It mediates interphotoreceptor adhesion and is critical for maintaining the organized disc stacking required for phototransduction. Loss-of-function mutations cause autosomal recessive cone-rod dystrophy and retinitis pigmentosa.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cone-rod dystrophy 15 (CORD15) | Loss of CDHR1 disrupts outer segment disc morphogenesis, leading to progressive photoreceptor degeneration. | OMIM #613660; ClinVar pathogenic variants |
| Retinitis pigmentosa 65 (RP65) | Biallelic CDHR1 mutations cause rod-cone degeneration with early night blindness. | OMIM #613575; ClinVar pathogenic variants |
| Macular dystrophy | Rare CDHR1 variants associated with central vision loss and macular atrophy. | ClinVar; literature case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | High (nTPM > 100) | High |
| Testis | Low (nTPM ~ 1) | Low |
| Brain | Not detected | Not detected |
| Heart | Not detected | Not detected |
| Liver | Not detected | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | Not detected | No significant expression |
| Y79 (retinoblastoma) | Low | Minimal transcript levels |
| HEK293 | Not detected | No endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.783G>A (p.Trp261*) | Nonsense | Rare | Premature stop; loss of function |
| c.1472delG (p.Gly491Valfs*13) | Frameshift deletion | Rare | Loss of function; truncated protein |
| c.2170C>T (p.Arg724*) | Nonsense | Rare | Loss of function; nonsense-mediated decay |
| c.1745G>A (p.Arg582Gln) | Missense | Rare | Likely loss of function; impaired adhesion |
Mutation functional classification
Loss of Function (LOF)
All reported pathogenic CDHR1 mutations are loss-of-function (nonsense, frameshift, splice-site, or missense disrupting cadherin repeats), leading to photoreceptor degeneration.
Gain of Function (GOF)
No gain-of-function mutations reported for CDHR1.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding (GO:0005509) | • homophilic cell adhesion via plasma membrane adhesion molecules (GO:0007156) |
| • integral component of membrane (GO:0016021) | • photoreceptor inner segment (GO:0001917) |
| • photoreceptor outer segment (GO:0001750) | • visual perception (GO:0007601) |
Pathways
• Phototransduction cascade (Reactome R-HSA-2188538)
• Cell-cell junction organization (Reactome R-HSA-421270)
Protein Summary
CDHR1 is a 1015-amino acid single-pass transmembrane protein belonging to the cadherin superfamily. It contains six extracellular cadherin repeats, a transmembrane domain, and a short cytoplasmic tail. The protein localizes to the connecting cilium and outer segment of photoreceptors, where it forms homophilic trans interactions to stabilize disc membranes. Its calcium-dependent adhesion is essential for the morphogenesis and maintenance of photoreceptor outer segments.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDHR1 Knockout HEK293 Cell Line | EDJ-KQ10853 | Human | 92211 | Details Get a Quote |
| CDHR1 Knockout HeLa Cell Line | EDJ-KQ57828 | Human | 92211 | Details Get a Quote |
| CDHR1 Knockout A-549 Cell Line | EDJ-KQ66327 | Human | 92211 | Details Get a Quote |
| CDHR1 Knockout HCT 116 Cell Line | EDJ-KQ74751 | Human | 92211 | Details Get a Quote |
