CABP5 Gene - Calcium Binding Protein 5
Essential regulator of calcium signaling in retinal neurons
Gene Information Card
| Symbol | CABP5 |
|---|---|
| Full Name | calcium binding protein 5 |
| Gene Type | protein coding |
| Chromosomal Location | 19q13.32 |
| NCBI Gene ID | 56344 ncbi.nlm.nih.gov/gene/56344 |
| Ensembl ID | ENSG00000105605 |
| UniProt ID | Q9NPB1 |
| OMIM ID | 609536 |
| HGNC ID | 1388 |
| Aliases | CABP5, CaBP5 |
Description
CABP5 (calcium binding protein 5) encodes a member of the calcium-binding protein family that functions as a calcium sensor in retinal neurons. The protein is predominantly expressed in the retina, where it modulates calcium-dependent signaling pathways critical for phototransduction and synaptic transmission. CABP5 interacts with voltage-gated calcium channels and other calcium-sensitive proteins to regulate neurotransmitter release and visual signal processing.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinal dystrophy | Altered calcium buffering and signaling in photoreceptors | ClinVar: pathogenic variants associated with retinal disease |
| Cone-rod dystrophy | Disruption of calcium-dependent phototransduction cascade | OMIM: 609536; case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | High |
| Brain | 1.2 | Low |
| Testis | 0.8 | Low |
| Heart | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 8.7 | Moderate expression |
| SH-SY5Y (neuroblastoma) | 2.1 | Low expression |
| HEK293 (embryonic kidney) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.236C>T (p.Pro79Leu) | Missense | Rare | Likely pathogenic; alters calcium binding affinity |
| c.487G>A (p.Gly163Arg) | Missense | Rare | Uncertain significance; may affect protein stability |
Mutation functional classification
Loss of Function (LOF)
Missense variants in calcium-binding EF-hand domains reduce calcium affinity and disrupt retinal signaling.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not documented.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding (GO:0005509) | • protein binding (GO:0005515) |
| • cytoplasm (GO:0005737) | • plasma membrane (GO:0005886) |
| • visual perception (GO:0007601) | • calcium-mediated signaling (GO:0019722) |
Pathways
• Phototransduction cascade (Reactome: R-HSA-2188538)
• Calcium signaling pathway (KEGG: hsa04020)
Protein Summary
CABP5 is a 245-amino acid calcium-binding protein containing four EF-hand motifs. It is expressed primarily in the retina, where it acts as a calcium sensor modulating voltage-gated calcium channels and synaptic vesicle release in photoreceptors and bipolar cells. The protein is critical for normal visual signal transduction and adaptation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CABP5 Knockout HEK293 Cell Line | EDJ-KQ2656 | Human | 56344 | Details Get a Quote |
| CABP5 Knockout HeLa Cell Line | EDJ-KQ56736 | Human | 56344 | Details Get a Quote |
| CABP5 Knockout A-549 Cell Line | EDJ-KQ65240 | Human | 56344 | Details Get a Quote |
| CABP5 Knockout HCT 116 Cell Line | EDJ-KQ73680 | Human | 56344 | Details Get a Quote |
