Gene
cdhr1a
- ID
- ZDB-GENE-040924-4
- Name
- cadherin-related family member 1a
- Symbol
- cdhr1a Nomenclature History
- Previous Names
-
- cdhr1
- pcdh21
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to enable calcium ion binding activity. Acts upstream of or within glial cell development and retina development in camera-type eye. Predicted to be located in membrane. Predicted to be active in plasma membrane. Human ortholog(s) of this gene implicated in cone-rod dystrophy 15. Orthologous to human CDHR1 (cadherin related family member 1).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 4 figures from Piedade et al., 2020
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
cone-rod dystrophy 15 | Alliance | Cone-rod dystrophy 15 | 613660 |
cone-rod dystrophy 15 | Alliance | Macular dystrophy, retinal | 613660 |
cone-rod dystrophy 15 | Alliance | Retinitis pigmentosa 65 | 613660 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Cadherin | Cadherin conserved site | Cadherin-like | Cadherin-like superfamily |
---|---|---|---|---|---|
UniProtKB:A0A8M9PXT0
|
749 | ||||
UniProtKB:Q6B3P0
|
857 | ||||
UniProtKB:G1K2I7
|
855 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
cdhr1a-201
(1)
|
Ensembl | 4,844 nt | ||
mRNA |
cdhr1a-202
(1)
|
Ensembl | 3,862 nt |
Interactions and Pathways
No data available
Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
---|---|---|---|---|---|---|---|
Ab1-cdhr1a | polyclonal | IgG | Rabbit |
|
Boster Biological
|
2 |
Plasmids
No data available