CBARP
protein-codingCACN subunit beta associated regulatory protein
Gene summary
Predicted to enable transmembrane transporter binding activity. Predicted to be involved in negative regulation of calcium ion-dependent exocytosis and negative regulation of voltage-gated calcium channel activity. Predicted to be located in growth cone and secretory granule. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
- C19orf26
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~9.7 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to CBARP variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001393918.1. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 3 | 4 | 7 | |||
| missense | 22 | 3 | 25 | |||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 26 | 7 | 0 | 33 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001380847.1 | 9 | MANE Select | |
| Ensembl | ENSP00000497208.1 | 9 | MANE Select | |
| RefSeq | NP_689982.3 | 8 | Standard | |
| Ensembl | ENSP00000371917.2 | 9 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- negative regulation of calcium ion-dependent exocytosis
- negative regulation of voltage-gated calcium channel activity
- negative regulation of calcium ion transmembrane transport
Molecular Function
- ion channel binding
Cellular Component
- plasma membrane
- integral component of membrane
- cell junction
- secretory granule
- growth cone
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000590083
- Coding exons
- 8
- Length
- 9741
- Individuals with no LoFs
- 124592
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 4
- Defined
- 124596
- p
- 0.0000161
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.281 | 297 | 284 | 1.05 | 0.0000197 | 2803 |
| Missense (PolyPhen) | 107 | 107 | 1 | 1067 | ||
| Synonymous | -2.71 | 165 | 126 | 1.31 | 0.00000926 | 995 |
| Loss of Function | 2.58 | 3 | 13.1 | 0.229 | 5.56e-7 | 169 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0.000030 | 0.000029 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000029 | 0.000018 | rare |
| South Asian | 0.000035 | 0.000033 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Negatively regulates voltage-gated calcium channels by preventing the interaction between their alpha and beta subunits. Thereby, negatively regulates calcium channels activity at the plasma membrane and indirectly inhibits calcium-regulated exocytosis. {ECO:0000250|UniProtKB:Q66L44}.;
Recessive Scores
- pRec
- 0.208
Intolerance Scores
- RVIS EVS
- 0.69
- RVIS percentile EVS
- 85.21