CARMIL3
protein-codingcapping protein regulator and myosin 1 linker 3
Gene summary
Predicted to be involved in cell migration and regulation of Arp2/3 complex-mediated actin nucleation. Located in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
- C14orf121
- LRRC16B
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~17.7 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 CARMIL3 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_138360.4. 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 | 2 | 2 | ||||
| missense | 15 | 15 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 18 | 0 | 0 | 18 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_612369.3 | 40 | MANE Select | |
| Ensembl | ENSP00000340467.5 | 40 | MANE Select | |
| Ensembl | ENSP00000543743.1 | 40 | Standard | |
| Ensembl | ENSP00000543743.1 | 40 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Cellular Component
- cytoplasm
- plasma membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000342740
- Coding exons
- 40
- Length
- 17732
- Individuals with no LoFs
- 125650
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 98
- Defined
- 125748
- p
- 0.000390
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.94 | 663 | 819 | 0.809 | 0.0000506 | 8804 |
| Missense (PolyPhen) | 145 | 201.03 | 0.72127 | 2206 | ||
| Synonymous | 0.00333 | 328 | 328 | 1.00 | 0.0000196 | 2815 |
| Loss of Function | 5.56 | 28 | 82.4 | 0.340 | 0.00000468 | 842 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00032 | 0.00031 | rare |
| Latino/Admixed American | 0.00020 | 0.00020 | rare |
| Ashkenazi Jewish | 0.000099 | 0.000099 | rare |
| East Asian | 0.00038 | 0.00038 | rare |
| Finnish | 0.00060 | 0.00060 | rare |
| European (Non-Finnish) | 0.00035 | 0.00033 | rare |
| South Asian | 0.00082 | 0.00082 | rare |
| Other | 0.00033 | 0.00033 | rare |
dbNSFP Gene Annotations
Source:
Intolerance Scores
- RVIS EVS
- -0.65
- RVIS percentile EVS
- 16.15
Essentials
- Essential (gene trap)
- N