ACTR3C
protein-codingactin related protein 3C, the group of Actin related proteins
Gene summary
Predicted to enable ATP binding activity and actin binding activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~79.8 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 ACTR3C variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001164458.2. 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 | 1 | 1 | ||||
| missense | 33 | 33 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 2 | 2 | ||||
| Total | 0 | 0 | 36 | 0 | 0 | 36 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001157930.1 | 6 | MANE Select | |
| Ensembl | ENSP00000507618.1 | 6 | MANE Select | |
| RefSeq | NP_001157931.1 | 6 | Standard | |
| RefSeq | NP_001337956.1 | 5 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Tight junction - Homo sapiens (human)
Biological Process
- biological_process
- Arp2/3 complex-mediated actin nucleation
Molecular Function
- molecular_function
- actin binding
- ATP binding
Cellular Component
- Arp2/3 protein complex
- extracellular exosome
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000539352
- Coding exons
- 6
- Length
- 79810
- Individuals with no LoFs
- 113913
- Homozygous LoFs
- 478
- Heterozygous LoFs
- 11355
- Defined
- 125746
- p
- 0.0482
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.128 | 116 | 112 | 1.03 | 0.00000602 | 1356 |
| Missense (PolyPhen) | 35 | 39.033 | 0.89669 | 452 | ||
| Synonymous | 0.0697 | 43 | 43.6 | 0.987 | 0.00000270 | 396 |
| Loss of Function | 0.660 | 9 | 11.4 | 0.789 | 5.47e-7 | 143 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.017 | 0.017 | notable |
| Latino/Admixed American | 0.020 | 0.020 | notable |
| Ashkenazi Jewish | 0.051 | 0.048 | notable |
| East Asian | 0.0052 | 0.0052 | notable |
| Finnish | 0.085 | 0.083 | notable |
| European (Non-Finnish) | 0.053 | 0.052 | notable |
| South Asian | 0.090 | 0.085 | notable |
| Other | 0.051 | 0.050 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: May play a role in the suppression of metastatic potential in lung adenoma carcinoma cells. {ECO:0000269|PubMed:11162478}.;
Intolerance Scores
- RVIS EVS
- 0.48
- RVIS percentile EVS
- 78.95
Essentials
- Essential (CRISPR)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.231
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |