ACTA2 | ENSG00000107796 | NCBI 59

Details for: ACTA2

Gene ID: 59

Symbol: ACTA2

Ensembl ID: ENSG00000107796

Description: actin alpha 2, smooth muscle

Associated with

Muscle contraction
(R-HSA-397014)
Notch4 intracellular domain regulates transcription
(R-HSA-9013695)
Signaling by notch
(R-HSA-157118)
Signaling by notch4
(R-HSA-9013694)
Signal transduction
(R-HSA-162582)
Smooth muscle contraction
(R-HSA-445355)
Atp binding
(GO:0005524)
Basement membrane
(GO:0005604)
Cell body
(GO:0044297)
Cellular response to transforming growth factor beta stimulus
(GO:0071560)
Cytoplasm
(GO:0005737)
Cytosol
(GO:0005829)
Extracellular exosome
(GO:0070062)
Extracellular space
(GO:0005615)
Filopodium
(GO:0030175)
Glomerular mesangial cell development
(GO:0072144)
Hydrolase activity
(GO:0016787)
Juxtaglomerular apparatus development
(GO:0072051)
Lamellipodium
(GO:0030027)
Mesenchyme migration
(GO:0090131)
Motile cilium
(GO:0031514)
Positive regulation of erk1 and erk2 cascade
(GO:0070374)
Positive regulation of gene expression
(GO:0010628)
Positive regulation of hepatic stellate cell activation
(GO:2000491)
Positive regulation of hepatic stellate cell contraction
(GO:0061874)
Positive regulation of hepatic stellate cell migration
(GO:0061870)
Protein-containing complex
(GO:0032991)
Protein kinase binding
(GO:0019901)
Regulation of blood pressure
(GO:0008217)
Response to virus
(GO:0009615)
Smooth muscle contractile fiber
(GO:0030485)
Stress fiber
(GO:0001725)
Vascular associated smooth muscle contraction
(GO:0014829)

Other Information

Proteins

Actin, aortic smooth muscle

Genular Protein ID: 891602321

Symbol: ACTA_HUMAN

Name: Actin, aortic smooth muscle

UniProtKB Accession Codes:

P62736 B2R8A4 P03996 P04108 Q6FI19

Database IDs:

Citations:

PubMed ID: 2701935

Title: The nucleotide sequence of a human smooth muscle alpha-actin (aortic type) cDNA.

PubMed ID: 2701935

DOI: 10.1093/nar/17.4.1767

PubMed ID: 2295650

Title: Structure of the human smooth muscle alpha-actin gene. Analysis of a cDNA and 5' upstream region.

PubMed ID: 2295650

DOI: 10.1016/s0021-9258(19)40070-7

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 6330528

Title: Structure of a human smooth muscle actin gene (aortic type) with a unique intron site.

PubMed ID: 6330528

DOI: 10.1128/mcb.4.6.1073-1078.1984

PubMed ID: 2612915

Title: Structure of 3'-downstream segment of the human smooth muscle (aortic-type) alpha-actin-encoding gene and isolation of the specific DNA probe.

PubMed ID: 2612915

DOI: 10.1016/0378-1119(89)90520-9

PubMed ID: 16548883

Title: Transcriptomic and proteomic analyses of rhabdomyosarcoma cells reveal differential cellular gene expression in response to enterovirus 71 infection.

PubMed ID: 16548883

DOI: 10.1111/j.1462-5822.2005.00644.x

PubMed ID: 19015515

Title: Connecting actin monomers by iso-peptide bond is a toxicity mechanism of the Vibrio cholerae MARTX toxin.

PubMed ID: 19015515

DOI: 10.1073/pnas.0808082105

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 26228148

Title: ACD toxin-produced actin oligomers poison formin-controlled actin polymerization.

PubMed ID: 26228148

DOI: 10.1126/science.aab4090

PubMed ID: 30626964

Title: SETD3 is an actin histidine methyltransferase that prevents primary dystocia.

PubMed ID: 30626964

DOI: 10.1038/s41586-018-0821-8

PubMed ID: 17994018

Title: Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

PubMed ID: 17994018

DOI: 10.1038/ng.2007.6

PubMed ID: 19409525

Title: Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.

PubMed ID: 19409525

DOI: 10.1016/j.ajhg.2009.04.007

PubMed ID: 19639654

Title: Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD).

PubMed ID: 19639654

DOI: 10.1002/humu.21081

PubMed ID: 20734336

Title: De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.

PubMed ID: 20734336

DOI: 10.1002/ajmg.a.33657

PubMed ID: 20970362

Title: Analysis of ACTA2 in European Moyamoya disease patients.

PubMed ID: 20970362

DOI: 10.1016/j.ejpn.2010.09.002

PubMed ID: 27481187

Title: Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.

PubMed ID: 27481187

DOI: 10.1002/ajmg.a.37857

Sequence Information:

Length: 377
Mass: 42009
Checksum: 2D0543262DB35CA5
Sequence:

MCEEEDSTAL VCDNGSGLCK AGFAGDDAPR AVFPSIVGRP RHQGVMVGMG QKDSYVGDEA 
QSKRGILTLK YPIEHGIITN WDDMEKIWHH SFYNELRVAP EEHPTLLTEA PLNPKANREK 
MTQIMFETFN VPAMYVAIQA VLSLYASGRT TGIVLDSGDG VTHNVPIYEG YALPHAIMRL 
DLAGRDLTDY LMKILTERGY SFVTTAEREI VRDIKEKLCY VALDFENEMA TAASSSSLEK 
SYELPDGQVI TIGNERFRCP ETLFQPSFIG MESAGIHETT YNSIMKCDID IRKDLYANNV 
LSGGTTMYPG IADRMQKEIT ALAPSTMKIK IIAPPERKYS VWIGGSILAS LSTFQQMWIS 
KQEYDEAGPS IVHRKCF

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: ACTA2

Associated with

Other Information

The nucleotide sequence of a human smooth muscle alpha-actin (aortic type) cDNA. PubMed ID: 2701935

Structure of the human smooth muscle alpha-actin gene. Analysis of a cDNA and 5' upstream region. PubMed ID: 2295650

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The DNA sequence and comparative analysis of human chromosome 10. PubMed ID: 15164054

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Structure of a human smooth muscle actin gene (aortic type) with a unique intron site. PubMed ID: 6330528

Structure of 3'-downstream segment of the human smooth muscle (aortic-type) alpha-actin-encoding gene and isolation of the specific DNA probe. PubMed ID: 2612915

Transcriptomic and proteomic analyses of rhabdomyosarcoma cells reveal differential cellular gene expression in response to enterovirus 71 infection. PubMed ID: 16548883

Connecting actin monomers by iso-peptide bond is a toxicity mechanism of the Vibrio cholerae MARTX toxin. PubMed ID: 19015515

Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features. PubMed ID: 22223895

N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB. PubMed ID: 22814378

ACD toxin-produced actin oligomers poison formin-controlled actin polymerization. PubMed ID: 26228148

SETD3 is an actin histidine methyltransferase that prevents primary dystocia. PubMed ID: 30626964

Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. PubMed ID: 17994018

Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. PubMed ID: 19409525

Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). PubMed ID: 19639654

De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. PubMed ID: 20734336

Analysis of ACTA2 in European Moyamoya disease patients. PubMed ID: 20970362

Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes. PubMed ID: 27481187