CABP2: Calcium Binding Protein 2
A key regulator of calcium signaling in sensory neurons and hearing function
Gene Information Card
| Symbol | CABP2 |
|---|---|
| Full Name | Calcium Binding Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000148848 |
| UniProt ID | Q9NPB3 |
| OMIM ID | 607314 |
| HGNC ID | 1386 |
| Aliases | CABP2, CaBP2, DKFZp686B0327 |
Description
CABP2 (Calcium Binding Protein 2) is a protein-coding gene located on chromosome 11q13.1. It encodes a member of the calcium-binding protein family, which contains EF-hand domains that bind calcium ions. CABP2 is predominantly expressed in the inner ear and brain, where it modulates calcium signaling and synaptic transmission. Mutations in CABP2 are associated with autosomal recessive non-syndromic hearing loss (DFNB93).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive non-syndromic hearing loss (DFNB93) | Loss-of-function mutations in CABP2 impair calcium-dependent neurotransmitter release at auditory ribbon synapses, leading to auditory neuropathy spectrum disorder. | ClinVar, OMIM |
| Auditory neuropathy spectrum disorder | Disruption of CABP2-mediated calcium buffering in inner hair cells alters synaptic vesicle exocytosis and auditory signal transmission. | PubMed, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Inner ear (cochlea) | 8.3 | Low |
| Testis | 6.1 | Low |
| Retina | 4.7 | Low |
| Heart | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal expression |
| HEK293 (embryonic kidney) | 3.1 | Low expression |
| HepG2 (liver) | 1.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.637C>T (p.Arg213*) | Nonsense | Rare | Loss of function; premature stop codon |
| c.490G>A (p.Gly164Ser) | Missense | Rare | Impaired calcium binding |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of translation initiation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg213*) lead to truncated protein and loss of calcium-binding activity, causing autosomal recessive hearing loss.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding (GO:0005509) | • protein binding (GO:0005515) |
| • cytoplasm (GO:0005737) | • axon (GO:0030424) |
| • neuronal cell body (GO:0043025) | • transmembrane transport (GO:0055085) |
Pathways
• Calcium signaling pathway (KEGG: hsa04020)
• Synaptic vesicle cycle (KEGG: hsa04721)
Protein Summary
CABP2 is a 259-amino acid calcium-binding protein containing four EF-hand motifs. It is structurally similar to calmodulin and other calcium sensor proteins. CABP2 localizes to the cytoplasm and axonal compartments of neurons, where it modulates calcium-dependent processes such as neurotransmitter release and synaptic plasticity. In the inner ear, CABP2 is essential for proper function of auditory ribbon synapses; loss of function leads to impaired hearing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CABP2 Knockout HEK293 Cell Line | EDJ-KQ11108 | Human | 51475 | Details Get a Quote |
| CABP2 Knockout HeLa Cell Line | EDJ-KQ56317 | Human | 51475 | Details Get a Quote |
| CABP2 Knockout A-549 Cell Line | EDJ-KQ64804 | Human | 51475 | Details Get a Quote |
| CABP2 Knockout HCT 116 Cell Line | EDJ-KQ73249 | Human | 51475 | Details Get a Quote |
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