Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | ACTR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | ACTR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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# | Reference Title | Reference Citation |
1. | 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. |
2. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
3. | Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. | Ko MS, etal., Development 2000 Apr;127(8):1737-49. |
4. | MGDs mouse GO annotations | MGD data from the GO Consortium |
5. | Newly identified cytoskeletal components are associated with dynamic changes of podocyte foot processes. | Miao J, etal., Nephrol Dial Transplant. 2009 Nov;24(11):3297-305. doi: 10.1093/ndt/gfp338. Epub 2009 Jul 17. |
6. | Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
7. | Involvement of Arp2/3 complex in the process of colorectal carcinogenesis. | Otsubo T, etal., Mod Pathol. 2004 Apr;17(4):461-7. |
8. | PID Annotation Import Pipeline | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
9. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
10. | Paleocortex is specified in mice in which dorsal telencephalic patterning is severely disrupted. | Vyas A, etal., J Comp Neurol 2003 Nov 24;466(4):545-53. |
11. | Relationship between learning and memory deficits and Arp2 expression in the hippocampus in rats with traumatic brain injury. | Xia X, etal., World Neurosurg. 2012 Dec;78(6):689-96. doi: 10.1016/j.wneu.2011.07.042. Epub 2011 Nov 7. |
12. | Identification of the shared gene signatures between pulmonary fibrosis and pulmonary hypertension using bioinformatics analysis. | Zhao H, etal., Front Immunol. 2023 Sep 4;14:1197752. doi: 10.3389/fimmu.2023.1197752. eCollection 2023. |
PMID:10349636 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:12477932 | PMID:12520002 | PMID:12589062 | PMID:12904583 | PMID:14610273 | PMID:15085951 | PMID:15233919 | PMID:15247266 |
PMID:15331365 | PMID:15489334 | PMID:15747579 | PMID:16141072 | PMID:16141073 | PMID:17500055 | PMID:17721515 | PMID:17967808 | PMID:18720401 | PMID:18799693 | PMID:19068115 | PMID:19144319 |
PMID:19922875 | PMID:21406566 | PMID:21494665 | PMID:21677750 | PMID:21873635 | PMID:21874009 | PMID:22385962 | PMID:22684256 | PMID:22951093 | PMID:23439682 | PMID:23495010 | PMID:24043783 |
PMID:24457600 | PMID:24998208 | PMID:25220164 | PMID:25315346 | PMID:25737280 | PMID:25926623 | PMID:26028144 | PMID:26370502 | PMID:26655834 | PMID:26975831 | PMID:27181356 | PMID:27927957 |
PMID:28378742 | PMID:28827327 | PMID:29111324 | PMID:29518331 | PMID:30068389 | PMID:30457570 | PMID:30550785 | PMID:30562941 | PMID:30833597 | PMID:31146259 | PMID:31157616 | PMID:31577955 |
PMID:31815664 | PMID:31961823 | PMID:32079655 | PMID:32325033 | PMID:32554809 | PMID:32581705 | PMID:32968282 | PMID:33903241 | PMID:34455539 | PMID:35658973 | PMID:36293380 |
Actr2 (Mus musculus - house mouse) |
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ACTR2 (Homo sapiens - human) |
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Actr2 (Rattus norvegicus - Norway rat) |
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Actr2 (Chinchilla lanigera - long-tailed chinchilla) |
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ACTR2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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ACTR2 (Canis lupus familiaris - dog) |
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Actr2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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ACTR2 (Sus scrofa - pig) |
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ACTR2 (Chlorocebus sabaeus - green monkey) |
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Actr2 (Heterocephalus glaber - naked mole-rat) |
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Variants in Actr2
2071 total Variants |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
MDB0504 |
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RH125883 |
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D6Ertd746e |
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RH141392 |
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RefSeq Transcripts | NM_001362899 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_146243 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AK014618 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK014859 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK032832 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK033014 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK088216 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK163217 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL606522 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC023864 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC027799 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC047530 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BE448820 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BP753259 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BY278998 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466595 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000000137 ⟹ ENSMUSP00000000137 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000132022 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000134779 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001362899 ⟹ NP_001349828 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_146243 ⟹ NP_666355 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001349828 | (Get FASTA) | NCBI Sequence Viewer |
NP_666355 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH27799 | (Get FASTA) | NCBI Sequence Viewer |
AAH47530 | (Get FASTA) | NCBI Sequence Viewer | |
BAC28048 | (Get FASTA) | NCBI Sequence Viewer | |
BAC28126 | (Get FASTA) | NCBI Sequence Viewer | |
BAC40216 | (Get FASTA) | NCBI Sequence Viewer | |
BAE37239 | (Get FASTA) | NCBI Sequence Viewer | |
EDL07826 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000000137 | ||
ENSMUSP00000000137.8 | |||
GenBank Protein | P61161 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_666355 ⟸ NM_146243 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q6PI31 (UniProtKB/Swiss-Prot), P61161 (UniProtKB/Swiss-Prot), Q5SW83 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001349828 ⟸ NM_001362899 |
- Peptide Label: | isoform 1 |
RefSeq Acc Id: | ENSMUSP00000000137 ⟸ ENSMUST00000000137 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P61161-F1-model_v2 | AlphaFold | P61161 | 1-394 | view protein structure |
RGD ID: | 6820281 | ||||||||
Promoter ID: | MM_KWN:6558 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day0, 3T3L1_Day1, 3T3L1_Day3, BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, ES_Cell, Kidney, Liver, Lung, MEF_B4, MEF_B6, Spleen | ||||||||
Transcripts: | NM_146243_ACTR2, OTTMUST00000011647, OTTMUST00000011649, UC007ICS.1, UC007ICT.1 | ||||||||
Position: |
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RGD ID: | 8674046 | ||||||||
Promoter ID: | EPDNEW_M15053 | ||||||||
Type: | initiation region | ||||||||
Name: | Actr2_1 | ||||||||
Description: | Mus musculus ARP2 actin-related protein 2 , mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | MGI:1913963 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000020152 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENSMUST00000000137 | ENTREZGENE |
ENSMUST00000000137.8 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 3.30.420.40 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
InterPro | Actin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Actin/actin-like_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
ATPase_NBD | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | mmu:66713 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
MGD | MGI:1913963 | ENTREZGENE |
NCBI Gene | 66713 | ENTREZGENE |
PANTHER | ACTIN-RELATED PROTEIN 2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR11937 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Actin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | Actr2 | PhenoGen |
PRINTS | ACTIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | ACTINS_ACT_LIKE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SMART | ACTIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF53067 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | ARP2_MOUSE | UniProtKB/Swiss-Prot, ENTREZGENE |
Q5SW83 | ENTREZGENE, UniProtKB/TrEMBL | |
Q6PI31 | ENTREZGENE | |
UniProt Secondary | O15142 | UniProtKB/Swiss-Prot |
Q6PI31 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2023-12-19 | Actr2 | actin related protein 2 | Actr2 | ARP2 actin-related protein 2 | Symbol and/or name change | 5135510 | APPROVED |
2012-07-10 | Actr2 | ARP2 actin-related protein 2 | Actr2 | ARP2 actin-related protein 2 homolog (yeast) | Symbol and/or name change | 5135510 | APPROVED |