Gene · basic biology
CDHR1 — Cadherin Related Family Member 1.
A neutral fact sheet for the CDHR1 gene: official identifiers, chromosomal location, the structure of the protein it encodes, and where in the body it is expressed. Educational content drawn from Tier-1 curated sources (HGNC, NCBI, Ensembl, UniProt, OMIM, PubMed). No clinical interpretation.
Block 1 · Official identification
What the CDHR1 gene is
HGNC-approved symbol: CDHR1 · HGNC ID 14550.
Approved name: Cadherin Related Family Member 1.
Recognized aliases: PCDH21 · PRCAD · KIAA1775 · CORD15 · RP65 (NCBI Gene 92211 curation).
Cross-references:
- NCBI Gene ID: 92211
- Ensembl Gene ID: ENSG00000148600
- UniProt (protein): Q96JP9
- OMIM: 609502
Block 2 · Chromosomal location
Where the gene sits in the genome
Chromosome 10, band 10q23.1, forward strand.
Positions 84,194,537–84,219,621 on the GRCh38.p14 assembly (NCBI Gene 92211 · Ensembl ENSG00000148600).
CDHR1 is an autosomal gene — not on the X or Y sex chromosomes.
Block 3 · Family and class
Which family the gene belongs to
The cadherin superfamily.
CDHR1 encodes a protein in the cadherin superfamily — calcium-dependent cell-adhesion molecules. More precisely it belongs to the protocadherin subgroup, which explains the legacy alias PCDH21 (UniProt Q96JP9 · NCBI Gene 92211).
Block 4 · Protein structure
What the encoded protein looks like
859 amino acids · the layout of a typical type-I cadherin.
The canonical isoform is organized as follows (UniProt Q96JP9 curation):
- Signal peptide: residues 1–19.
- Extracellular region: six cadherin domains in tandem (EC1–EC6).
- Transmembrane region: residues 701–721, helical.
- Cytoplasmic tail: short.
Annotated molecular functions: calcium-ion binding and cell–cell adhesion.
Block 5 · Tissue expression
Where the gene is expressed
Enriched in retina and skin.
In the retina, the protein localizes to the outer segment of photoreceptors, at the junction between the inner and outer segments of rods and cones — an anatomical-cellular description per UniProt curation and the RPKM expression profile in NCBI Gene.
Block 6 · Original characterization
When the gene was first described
2001. The functional ortholog (prCAD) was first described by Rattner, Smallwood, Williams, Cooke, Savchenko, Lyubarsky, Pugh and Nathans:
The human symbol CDHR1 was later standardized by the HGNC (entry HGNC:14550).
Block 7 · Tier-1 sources to verify
Where to check each statement
Every claim on this page can be checked against the following public, curated databases:
- HGNC:14550 — official nomenclature
- NCBI Gene 92211 — sequence, aliases, expression
- Ensembl ENSG00000148600 — genomic location
- UniProt Q96JP9 — protein: domains, molecular function
- OMIM 609502 — gene entry
- PubMed 11738025 — original characterization (Neuron, 2001)
Editorial scope
What this page does not cover
By editorial choice, this page is limited to the neutral biological description of the CDHR1 gene. It does not cover associated diseases, prognosis, prevalence, therapies or clinical recommendations. For any health question, please consult a qualified medical professional.