ACTR2
actin related protein 2, the group of Actin related proteins|Actin related protein 2/3 complex subunits
Basic information
Region (hg38): 2:65227788-65271253
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 ACTR2 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 | 8 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 8 | 0 | 0 |
Variants in ACTR2
This is a list of pathogenic ClinVar variants found in the ACTR2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 2-65242056-A-G | not specified | Uncertain significance (Feb 21, 2024) | ||
| 2-65246572-G-A | not specified | Uncertain significance (Dec 14, 2023) | ||
| 2-65246584-A-G | not specified | Uncertain significance (Apr 27, 2024) | ||
| 2-65251054-G-A | not specified | Uncertain significance (Mar 22, 2023) | ||
| 2-65255594-C-T | not specified | Uncertain significance (Jun 22, 2023) | ||
| 2-65255639-T-C | not specified | Uncertain significance (Jul 26, 2022) | ||
| 2-65261382-A-G | not specified | Uncertain significance (Apr 19, 2024) | ||
| 2-65265147-T-G | not specified | Uncertain significance (Sep 01, 2021) | ||
| 2-65268572-G-T | not specified | Uncertain significance (May 04, 2022) | ||
| 2-65268575-C-G | not specified | Uncertain significance (Feb 22, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ACTR2 | protein_coding | protein_coding | ENST00000377982 | 10 | 43501 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.999 | 0.00104 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 3.67 | 66 | 219 | 0.302 | 0.0000113 | 2595 |
| Missense in Polyphen | 12 | 68.626 | 0.17486 | 863 | ||
| Synonymous | 1.35 | 59 | 73.8 | 0.800 | 0.00000365 | 764 |
| Loss of Function | 4.38 | 1 | 24.3 | 0.0411 | 0.00000155 | 274 |
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). {ECO:0000269|PubMed:17220302, ECO:0000269|PubMed:29925947, ECO:0000269|PubMed:9000076}.;
- Pathway
- Tight junction - Homo sapiens (human);TGF-Core;Association Between Physico-Chemical Features and Toxicity Associated Pathways;ESC Pluripotency Pathways;Developmental Biology;Neutrophil degranulation;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
- 0.109
Intolerance Scores
- loftool
- 0.0779
- rvis_EVS
- -0.1
- rvis_percentile_EVS
- 46.2
Haploinsufficiency Scores
- pHI
- 0.303
- hipred
- Y
- hipred_score
- 0.825
- ghis
- 0.688
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.993
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Low | Low | Low |
| Primary Immunodeficiency | Medium | Low | Medium |
| Cancer | Low | Low | Low |
Mouse Genome Informatics
- Gene name
- Actr2
- 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;associative learning;asymmetric cell division;meiotic chromosome movement towards spindle pole;cytosolic transport;meiotic cytokinesis;Arp2/3 complex-mediated actin nucleation;response to immobilization stress;cellular response to trichostatin A;Fc-gamma receptor signaling pathway involved in phagocytosis;neutrophil degranulation;response to ethanol;positive regulation of transcription by RNA polymerase II;ephrin receptor signaling pathway;spindle localization;cilium assembly;positive regulation of dendritic spine morphogenesis;membrane organization;cellular response to interferon-gamma;positive regulation of double-strand break repair via homologous recombination;regulation of double-strand break repair via nonhomologous end joining
- Cellular component
- extracellular region;nucleus;cytoplasm;cytosol;Arp2/3 protein complex;focal adhesion;postsynaptic density;actin cytoskeleton;membrane;lamellipodium;actin cap;azurophil granule lumen;site of double-strand break;podosome core;extracellular exosome;invadopodium;ficolin-1-rich granule lumen
- Molecular function
- structural constituent of cytoskeleton;ATP binding;actin filament binding