ACTR3
actin related protein 3, the group of Actin related protein 2/3 complex subunits|Actin related proteins
Basic information
Region (hg38): 2:113890063-113962596
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACTR3 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 6 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 1 | 1 | ||||
| non coding | 1 | |||||
| Total | 0 | 0 | 6 | 0 | 1 |
Variants in ACTR3
This is a list of pathogenic ClinVar variants found in the ACTR3 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 2-113913172-G-T | not specified | Likely benign (Jan 04, 2024) | ||
| 2-113916982-A-G | not specified | Uncertain significance (Jan 23, 2023) | ||
| 2-113927358-A-G | not specified | Uncertain significance (Jul 11, 2023) | ||
| 2-113940101-A-T | not specified | Uncertain significance (Aug 08, 2022) | ||
| 2-113942280-A-G | not specified | Uncertain significance (Jul 14, 2021) | ||
| 2-113942312-G-A | not specified | Uncertain significance (Jun 02, 2023) | ||
| 2-113942363-A-AT | Benign (Dec 13, 2017) | |||
| 2-113951528-T-C | not specified | Uncertain significance (Dec 30, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ACTR3 | protein_coding | protein_coding | ENST00000263238 | 12 | 72637 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.00 | 0.000144 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 3.61 | 76 | 230 | 0.330 | 0.0000120 | 2730 |
| Missense in Polyphen | 20 | 94.725 | 0.21114 | 1122 | ||
| Synonymous | 0.429 | 70 | 74.7 | 0.937 | 0.00000373 | 776 |
| Loss of Function | 4.65 | 0 | 25.2 | 0.00 | 0.00000133 | 310 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: ATP-binding component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) (PubMed:9000076). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility (PubMed:9000076). Seems to contact the pointed end of the daughter actin filament (PubMed:9000076). In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:17220302, PubMed:29925947). The Arp2/3 complex promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double- strand breaks (DSBs) (PubMed:29925947). Plays a role in ciliogenesis (PubMed:20393563). {ECO:0000269|PubMed:17220302, ECO:0000269|PubMed:20393563, ECO:0000269|PubMed:29925947, ECO:0000269|PubMed:9000076}.;
- Pathway
- Tight junction - Homo sapiens (human);Association Between Physico-Chemical Features and Toxicity Associated Pathways;Developmental Biology;Signal Transduction;Vesicle-mediated transport;role of pi3k subunit p85 in regulation of actin organization and cell migration;how does salmonella hijack a cell;Membrane Trafficking;y branching of actin filaments;Fcgamma receptor (FCGR) dependent phagocytosis;EPH-Ephrin signaling;Innate Immune System;Immune System;EPHB-mediated forward signaling;RHO GTPases Activate WASPs and WAVEs;RHO GTPase Effectors;Signaling by Rho GTPases;Clathrin-mediated endocytosis;EGFR1;ErbB1 downstream signaling;Regulation of actin dynamics for phagocytic cup formation;Axon guidance;RAC1 signaling pathway;CDC42 signaling events;PDGFR-beta signaling pathway
(Consensus)
Recessive Scores
- pRec
- 0.142
Intolerance Scores
- loftool
- 0.0643
- rvis_EVS
- 0.13
- rvis_percentile_EVS
- 62.74
Haploinsufficiency Scores
- pHI
- 0.692
- hipred
- Y
- hipred_score
- 0.739
- ghis
- 0.526
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.937
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Actr3
- Phenotype
- embryo phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);
Gene ontology
- Biological process
- establishment or maintenance of cell polarity;asymmetric cell division;meiotic chromosome movement towards spindle pole;meiotic cytokinesis;Arp2/3 complex-mediated actin nucleation;Fc-gamma receptor signaling pathway involved in phagocytosis;positive regulation of transcription by RNA polymerase II;ephrin receptor signaling pathway;spindle localization;cilium assembly;membrane organization;actin polymerization-dependent cell motility;cellular response to interferon-gamma
- Cellular component
- nucleus;cytoplasm;cytosol;Arp2/3 protein complex;brush border;cell-cell junction;focal adhesion;actin cytoskeleton;membrane;lamellipodium;site of double-strand break;extracellular exosome
- Molecular function
- structural constituent of cytoskeleton;protein binding;ATP binding;actin filament binding