Acta2 actin alpha 2, smooth muscle, aorta [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Acta2provided by MGI
Official Full Name: actin alpha 2, smooth muscle, aortaprovided by MGI
Primary source: MGI:MGI:87909
See related: Ensembl:ENSMUSG00000035783 AllianceGenome:MGI:87909
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Actvs; a-SMA; SMAalpha; SMalphaA; alphaSMA; 0610041G09Rik
Summary: The protein encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in smooth muscle. [provided by RefSeq, Feb 2021]
Expression: Biased expression in bladder adult (RPKM 2693.2), ovary adult (RPKM 563.6) and 10 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 C1; 19 29.41 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (34217736..34232985, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (34240336..34255585, complement)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Smooth Muscle-Alpha Actin R149C Pathogenic Variant Downregulates Integrin Recruitment at Cell-Matrix Adhesions and Decreases Cellular Contractility.
Title: Smooth Muscle-Alpha Actin R149C Pathogenic Variant Downregulates Integrin Recruitment at Cell-Matrix Adhesions and Decreases Cellular Contractility.
Abnormally elevated expression of ACTA2 of circular smooth muscle leads to hyperactive contraction in aganglionic segments of HSCR.
Title: Abnormally elevated expression of ACTA2 of circular smooth muscle leads to hyperactive contraction in aganglionic segments of HSCR.
Loss of Acta2 in cardiac fibroblasts does not prevent the myofibroblast differentiation or affect the cardiac repair after myocardial infarction.
Title: Loss of Acta2 in cardiac fibroblasts does not prevent the myofibroblast differentiation or affect the cardiac repair after myocardial infarction.
DOCK2 contributes to pulmonary fibrosis by promoting lung fibroblast to myofibroblast transition.
Title: DOCK2 contributes to pulmonary fibrosis by promoting lung fibroblast to myofibroblast transition.
Colonic healing requires Wnt produced by epithelium as well as Tagln+ and Acta2+ stromal cells.
Title: Colonic healing requires Wnt produced by epithelium as well as Tagln+ and Acta2+ stromal cells.
Resistance of Acta2(R149C/+) mice to aortic disease is associated with defective release of mutant smooth muscle alpha-actin from the chaperonin-containing TCP1 folding complex.
Title: Resistance of Acta2(R149C/+) mice to aortic disease is associated with defective release of mutant smooth muscle α-actin from the chaperonin-containing TCP1 folding complex.
The glucagon-like peptide-1 (GLP-1) analog exenatide ameliorates intrauterine adhesions in mice.
Title: The glucagon-like peptide-1 (GLP-1) analog exenatide ameliorates intrauterine adhesions in mice.
alphaSMA(+) fibroblasts suppress Lgr5(+) cancer stem cells and restrain colorectal cancer progression.
Title: αSMA(+) fibroblasts suppress Lgr5(+) cancer stem cells and restrain colorectal cancer progression.
Alpha-Smooth Muscle Actin-Positive Perivascular Cells in Diabetic Retina and Choroid.
Title: Alpha-Smooth Muscle Actin-Positive Perivascular Cells in Diabetic Retina and Choroid.
There is a relationship between smooth muscle alpha-actin and fibrogenesis in hepatic myofibroblasts in vivo.
Title: Smooth Muscle α-Actin Deficiency Leads to Decreased Liver Fibrosis via Impaired Cytoskeletal Signaling in Hepatic Stellate Cells.

Submit: New GeneRIF Correction See all GeneRIFs (62)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation
Endonuclease-mediated (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Acta2 (e-PCR), detects polymorphism
- UniSTS:547633

PMC23952P1 (e-PCR)
- UniSTS:272216

RH136613 (e-PCR)
- UniSTS:210593

PMC259132P1 (e-PCR)
- UniSTS:272291

NoName (e-PCR)
- UniSTS:548519

PMC305873P2 (e-PCR)
- UniSTS:272568

Acta1 (e-PCR), detects polymorphism
- UniSTS:141013

Acta2 (e-PCR), detects polymorphism
- UniSTS:463359

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in muscle contraction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of ERK1 and ERK2 cascade	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of hepatic stellate cell activation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of hepatic stellate cell contraction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of hepatic stellate cell migration	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of blood pressure	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within vascular associated smooth muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in actin cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in actin cytoskeleton	ISO Inferred from Sequence Orthology more info	PubMed
located_in basement membrane	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info	PubMed
located_in cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in motile cilium	IDA Inferred from Direct Assay more info	PubMed
located_in smooth muscle contractile fiber	IDA Inferred from Direct Assay more info	PubMed
located_in stress fiber	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: actin, aortic smooth muscle

Names: actin, alpha, vascular smooth muscle; alpha-actin-2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_007392.3 → NP_031418.1 actin, aortic smooth muscle

See identical proteins and their annotated locations for NP_031418.1

Status: REVIEWED

Source sequence(s)

AC102285, AK017374

Consensus CDS

CCDS29757.1

UniProtKB/Swiss-Prot

P62737

UniProtKB/TrEMBL

Q3U122

Related

ENSMUSP00000048218.9, ENSMUST00000039631.10

Conserved Domains (1) summary

PTZ00281
Location:3 → 377

PTZ00281; actin; Provisional

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000085.7 Reference GRCm39 C57BL/6J

Range

34217736..34232985 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006526606.2 → XP_006526669.1 actin, aortic smooth muscle isoform X1

UniProtKB/TrEMBL

E9Q5F4

Conserved Domains (1) summary

cl17037
Location:3 → 280

NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily