Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | RGD:736322 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Actin -related protein 3 (Arp3) is mutated in proteinuric BUF/Mna rats. | Akiyama K, et al., Mamm Genome. 2008 Jan;19(1):41-50. Epub 2007 Dec 7. |
| 2. | Relationship between Arp2/3 complex and the barbed ends of actin filaments at the leading edge of carcinoma cells after epidermal growth factor stimulation. | Bailly M, etal., J Cell Biol. 1999 Apr 19;145(2):331-45. |
| 3. | Cell mechanics control rapid transitions between blebs and lamellipodia during migration. | Bergert M, etal., Proc Natl Acad Sci U S A. 2012 Sep 4;109(36):14434-9. doi: 10.1073/pnas.1207968109. Epub 2012 Jul 11. |
| 4. | Cytosol-derived proteins are sufficient for Arp2/3 recruitment and ARF/coatomer-dependent actin polymerization on Golgi membranes. | Chen JL, etal., FEBS Lett. 2004 May 21;566(1-3):281-6. |
| 5. | Adjudin disrupts spermatogenesis via the action of some unlikely partners: Eps8, Arp2/3 complex, drebrin E, PAR6 and 14-3-3. | Cheng CY, etal., Spermatogenesis. 2011 Oct;1(4):291-297. Epub 2011 Oct 1. |
| 6. | Arp2/3- and cofilin-coordinated actin dynamics is required for insulin-mediated GLUT4 translocation to the surface of muscle cells. | Chiu TT, etal., Mol Biol Cell. 2010 Oct 15;21(20):3529-39. doi: 10.1091/mbc.E10-04-0316. Epub 2010 Aug 25. |
| 7. | A proteome analysis of the anterior cingulate cortex gray matter in schizophrenia. | Clark D, etal., Mol Psychiatry. 2006 May;11(5):459-70, 423. |
| 8. | Disruption of tubulobulbar complex by high intratesticular estrogens leading to failed spermiation. | D'Souza R, etal., Endocrinology. 2009 Apr;150(4):1861-9. doi: 10.1210/en.2008-1232. Epub 2008 Dec 18. |
| 9. | Synergistic interaction between the Arp2/3 complex and cofilin drives stimulated lamellipod extension. | DesMarais V, etal., J Cell Sci. 2004 Jul 15;117(Pt 16):3499-510. |
| 10. | Effect of Heme Oxygenase-1 Deficiency on Glomerular Proteomics. | Detsika MG, etal., Am J Nephrol. 2016;43(6):441-50. doi: 10.1159/000446859. Epub 2016 Jun 2. |
| 11. | F-BAR proteins of the syndapin family shape the plasma membrane and are crucial for neuromorphogenesis. | Dharmalingam E, etal., J Neurosci. 2009 Oct 21;29(42):13315-27. doi: 10.1523/JNEUROSCI.3973-09.2009. |
| 12. | Cdc42 is required for EGF-stimulated protrusion and motility in MTLn3 carcinoma cells. | El-Sibai M, etal., J Cell Sci. 2007 Oct 1;120(Pt 19):3465-74. Epub 2007 Sep 12. |
| 13. | Alterations in cytoskeletal and immune function-related proteome profiles in whole rat lung following intratracheal instillation of heparin. | Gabr AA, etal., Respir Res. 2007 May 8;8:36. |
| 14. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 15. | Regulation of spine density and morphology by IQGAP1 protein domains. | Jausoro I, etal., PLoS One. 2013;8(2):e56574. doi: 10.1371/journal.pone.0056574. Epub 2013 Feb 18. |
| 16. | Arp2/3 complex is important for filopodia formation, growth cone motility, and neuritogenesis in neuronal cells. | Korobova F and Svitkina T, Mol Biol Cell. 2008 Apr;19(4):1561-74. Epub 2008 Feb 6. |
| 17. | RasGRP3 regulates the migration of glioma cells via interaction with Arp3. | Lee HK, etal., Oncotarget. 2015 Jan 30;6(3):1850-64. |
| 18. | Actin-binding protein drebrin E is involved in junction dynamics during spermatogenesis. | Li MW, etal., Spermatogenesis. 2011 Apr;1(2):123-136. |
| 19. | Interleukin-1alpha is a regulator of the blood-testis barrier. | Lie PP, etal., FASEB J. 2011 Apr;25(4):1244-53. doi: 10.1096/fj.10-169995. Epub 2010 Dec 29. |
| 20. | Restricted Arp3 expression in the testis prevents blood-testis barrier disruption during junction restructuring at spermatogenesis. | Lie PP, etal., Proc Natl Acad Sci U S A. 2010 Jun 22;107(25):11411-6. doi: 10.1073/pnas.1001823107. Epub 2010 Jun 7. |
| 21. | Focal adhesion kinase-Tyr407 and -Tyr397 exhibit antagonistic effects on blood-testis barrier dynamics in the rat. | Lie PP, etal., Proc Natl Acad Sci U S A. 2012 Jul 31;109(31):12562-7. doi: 10.1073/pnas.1202316109. Epub 2012 Jul 12. |
| 22. | UTP affects the Schwannoma cell line proteome through P2Y receptors leading to cytoskeletal reorganisation. | Martiáñez T, etal., Proteomics. 2012 Jan;12(1):145-56. doi: 10.1002/pmic.201100187. Epub 2011 Dec 9. |
| 23. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 24. | Changes in the balance between caldesmon regulated by p21-activated kinases and the Arp2/3 complex govern podosome formation. | Morita T, etal., J Biol Chem. 2007 Mar 16;282(11):8454-63. Epub 2007 Jan 15. |
| 25. | The antagonistic modulation of Arp2/3 activity by N-WASP, WAVE2 and PICK1 defines dynamic changes in astrocyte morphology. | Murk K, etal., J Cell Sci. 2013 Sep 1;126(Pt 17):3873-83. doi: 10.1242/jcs.125146. Epub 2013 Jul 10. |
| 26. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 27. | Involvement of Arp2/3 complex in the process of colorectal carcinogenesis. | Otsubo T, etal., Mod Pathol. 2004 Apr;17(4):461-7. |
| 28. | Aging-induced proteostatic changes in the rat hippocampus identify ARP3, NEB2 and BRAG2 as a molecular circuitry for cognitive impairment. | Ottis P, etal., PLoS One. 2013 Sep 19;8(9):e75112. doi: 10.1371/journal.pone.0075112. eCollection 2013. |
| 29. | Semiquantitative proteomic analysis of rat forebrain postsynaptic density fractions by mass spectrometry. | Peng J, etal., J Biol Chem. 2004 May 14;279(20):21003-11. doi: 10.1074/jbc.M400103200. Epub 2004 Mar 12. |
| 30. | PID Annotation Import Pipeline | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
| 31. | Breast cancer resistance protein regulates apical ectoplasmic specialization dynamics stage specifically in the rat testis. | Qian X, etal., Am J Physiol Endocrinol Metab. 2013 Apr 1;304(7):E757-69. doi: 10.1152/ajpendo.00645.2012. Epub 2013 Feb 12. |
| 32. | Palladin is a regulator of actin filament bundles at the ectoplasmic specialization in adult rat testes. | Qian X, etal., Endocrinology. 2013 May;154(5):1907-20. doi: 10.1210/en.2012-2269. Epub 2013 Apr 1. |
| 33. | GOA pipeline | RGD automated data pipeline |
| 34. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 35. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 36. | Actin filament formation, reorganization and migration are impaired in hepatic stellate cells under influence of trichostatin A, a histone deacetylase inhibitor. | Rombouts K, etal., J Hepatol. 2002 Dec;37(6):788-96. |
| 37. | Plasma IgG autoantibody against actin-related protein 3 in liver fluke Opisthorchis viverrini infection. | Rucksaken R, etal., Parasite Immunol. 2015 Jul;37(7):340-8. doi: 10.1111/pim.12188. |
| 38. | A dynamic podosome-like structure of epithelial cells. | Spinardi L, etal., Exp Cell Res. 2004 May 1;295(2):360-74. |
| 39. | Synthetic triterpenoids target the Arp2/3 complex and inhibit branched actin polymerization. | To C, etal., J Biol Chem. 2010 Sep 3;285(36):27944-57. doi: 10.1074/jbc.M110.103036. Epub 2010 Jun 21. |
| 40. | N-wasp and the arp2/3 complex are critical regulators of actin in the development of dendritic spines and synapses. | Wegner AM, etal., J Biol Chem. 2008 Jun 6;283(23):15912-20. Epub 2008 Apr 21. |
| 41. | A combined metabonomic and proteomic approach identifies frontal cortex changes in a chronic phencyclidine rat model in relation to human schizophrenia brain pathology. | Wesseling H, etal., Neuropsychopharmacology. 2013 Nov;38(12):2532-44. doi: 10.1038/npp.2013.160. Epub 2013 Jul 3. |
| 42. | The small GTPase Cdc42 interacts with Niemann-Pick C1-like 1 (NPC1L1) and controls its movement from endocytic recycling compartment to plasma membrane in a cholesterol-dependent manner. | Xie C, etal., J Biol Chem. 2011 Oct 14;286(41):35933-42. Epub 2011 Aug 15. |
| 43. | CFL1 and Arp3 are biomarkers for metastasis and poor prognosis of squamous cell/adenosquamous carcinomas and adenocarcinomas of gallbladder. | Yang ZL, etal., Cancer Invest. 2013 Feb;31(2):132-9. doi: 10.3109/07357907.2012.756113. Epub 2013 Jan 15. |
| 44. | Integrin-matrix clusters form podosome-like adhesions in the absence of traction forces. | Yu CH, etal., Cell Rep. 2013 Dec 12;5(5):1456-68. doi: 10.1016/j.celrep.2013.10.040. Epub 2013 Nov 27. |
Additional References at PubMed
| PMID:9230079 | PMID:11741539 | PMID:12477932 | PMID:14657280 | PMID:16767080 | PMID:16854843 | PMID:17220302 | PMID:18297063 | PMID:19056867 | PMID:19144319 | PMID:19946888 | PMID:20393563 |
| PMID:20458337 | PMID:21423176 | PMID:21494665 | PMID:22114352 | PMID:23376485 | PMID:23439682 | PMID:23533145 | PMID:23793062 | PMID:29058690 | PMID:29476059 | PMID:31505169 | PMID:31975378 |
Genomics
Comparative Map Data
| Actr3 (Rattus norvegicus - Norway rat) |
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| ACTR3 (Homo sapiens - human) |
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| Actr3 (Mus musculus - house mouse) |
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| Actr3 (Chinchilla lanigera - long-tailed chinchilla) |
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| ACTR3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| ACTR3 (Canis lupus familiaris - dog) |
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| Actr3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| ACTR3 (Sus scrofa - pig) |
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| ACTR3 (Chlorocebus sabaeus - green monkey) |
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| Actr3 (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Actr3
185 total Variants 
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