Details for: ACTA2

Gene ID: 59

Symbol: ACTA2

Ensembl ID: ENSG00000107796

Description: actin alpha 2, smooth muscle

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: myoepithelial cell (CL0000185)
    CSI Score: 15.8
  • Cell Name: myofibroblast cell (CL0000186)
    CSI Score: 14.0
  • Cell Name: basal-myoepithelial cell of mammary gland (CL0002324)
    CSI Score: 11.6
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    CSI Score: 11.6
  • Cell Name: smooth muscle cell (CL0000192)
    CSI Score: 10.3
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    CSI Score: 8.2
  • Cell Name: hepatic stellate cell (CL0000632)
    CSI Score: 8.2
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    CSI Score: 8.1
  • Cell Name: muscle cell (CL0000187)
    CSI Score: 7.8
  • Cell Name: fibroblast of lung (CL0002553)
    CSI Score: 6.9
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    CSI Score: 6.6
  • Cell Name: conjunctival epithelial cell (CL1000432)
    CSI Score: 6.3
  • Cell Name: enteric smooth muscle cell (CL0002504)
    CSI Score: 6.2
  • Cell Name: renal interstitial pericyte (CL1001318)
    CSI Score: 6.2
  • Cell Name: mesenchymal stem cell (CL0000134)
    CSI Score: 6.1
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    CSI Score: 5.9
  • Cell Name: lung pericyte (CL0009089)
    CSI Score: 5.7
  • Cell Name: epithelial cell (CL0000066)
    CSI Score: 5.6
  • Cell Name: mural cell (CL0008034)
    CSI Score: 5.3
  • Cell Name: exhausted T cell (CL0011025)
    CSI Score: 5.2
  • Cell Name: contractile cell (CL0000183)
    CSI Score: 4.8
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    CSI Score: 4.4
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    CSI Score: 4.3
  • Cell Name: ciliated epithelial cell (CL0000067)
    CSI Score: 3.9
  • Cell Name: fibroblast (CL0000057)
    CSI Score: 3.7
  • Cell Name: hepatocyte (CL0000182)
    CSI Score: 3.7
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    CSI Score: 3.6
  • Cell Name: stromal cell (CL0000499)
    CSI Score: 3.6
  • Cell Name: intestinal epithelial cell (CL0002563)
    CSI Score: 3.6
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    CSI Score: 3.5
  • Cell Name: retinal ganglion cell (CL0000740)
    CSI Score: 3.4
  • Cell Name: mesenchymal cell (CL0008019)
    CSI Score: 3.4
  • Cell Name: endothelial cell (CL0000115)
    CSI Score: 3.4
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    CSI Score: 3.2
  • Cell Name: malignant cell (CL0001064)
    CSI Score: 3.2
  • Cell Name: CD8-positive, alpha-beta T cell (CL0000625)
    CSI Score: 3.0
  • Cell Name: CD4-positive helper T cell (CL0000492)
    CSI Score: 2.9
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    CSI Score: 2.9
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    CSI Score: 2.9
  • Cell Name: T cell (CL0000084)
    CSI Score: 2.8
  • Cell Name: blood vessel endothelial cell (CL0000071)
    CSI Score: 2.8
  • Cell Name: myeloid leukocyte (CL0000766)
    CSI Score: 2.8
  • Cell Name: cardiac endothelial cell (CL0010008)
    CSI Score: 2.8
  • Cell Name: melanocyte (CL0000148)
    CSI Score: 2.5
  • Cell Name: corneal epithelial cell (CL0000575)
    CSI Score: 2.4
  • Cell Name: regulatory T cell (CL0000815)
    CSI Score: 2.3
  • Cell Name: effector CD4-positive, alpha-beta T cell (CL0001044)
    CSI Score: 2.3
  • Cell Name: enterocyte (CL0000584)
    CSI Score: 2.2
  • Cell Name: pericyte (CL0000669)
    CSI Score: 2.2
  • Cell Name: peripheral nervous system neuron (CL2000032)
    CSI Score: 2.1
  • Cell Name: Mueller cell (CL0000636)
    CSI Score: 2.1
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    CSI Score: 2.1
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    CSI Score: 2.0
  • Cell Name: cardiac muscle cell (CL0000746)
    CSI Score: 1.9
  • Cell Name: CD4-positive, alpha-beta T cell (CL0000624)
    CSI Score: 1.9
  • Cell Name: stratified epithelial cell (CL0000079)
    CSI Score: 1.9
  • Cell Name: hematopoietic cell (CL0000988)
    CSI Score: 1.9
  • Cell Name: effector memory CD8-positive, alpha-beta T cell (CL0000913)
    CSI Score: 1.8
  • Cell Name: forebrain radial glial cell (CL0013000)
    CSI Score: 1.8
  • Cell Name: basal cell (CL0000646)
    CSI Score: 1.8
  • Cell Name: colon epithelial cell (CL0011108)
    CSI Score: 1.7
  • Cell Name: mesodermal cell (CL0000222)
    CSI Score: 1.7
  • Cell Name: blood vessel smooth muscle cell (CL0019018)
    CSI Score: 1.7
  • Cell Name: T follicular helper cell (CL0002038)
    CSI Score: 1.7
  • Cell Name: obsolete animal cell (CL0000548)
    CSI Score: 1.7
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    CSI Score: 1.7
  • Cell Name: type B pancreatic cell (CL0000169)
    CSI Score: 1.6
  • Cell Name: mononuclear phagocyte (CL0000113)
    CSI Score: 1.6
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    CSI Score: 1.5
  • Cell Name: intraepithelial lymphocyte (CL0002496)
    CSI Score: 1.5
  • Cell Name: lymphocyte (CL0000542)
    CSI Score: 1.5
  • Cell Name: placental villous trophoblast (CL2000060)
    CSI Score: 1.4
  • Cell Name: microglial cell (CL0000129)
    CSI Score: 1.4
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    CSI Score: 1.3
  • Cell Name: neuron (CL0000540)
    CSI Score: 1.3
  • Cell Name: myeloid cell (CL0000763)
    CSI Score: 1.3
  • Cell Name: alveolar type 1 fibroblast cell (CL4028004)
    CSI Score: 1.3
  • Cell Name: alveolar macrophage (CL0000583)
    CSI Score: 1.3
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    CSI Score: 1.3
  • Cell Name: ciliated cell (CL0000064)
    CSI Score: 1.3
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    CSI Score: 1.3
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    CSI Score: 1.2
  • Cell Name: effector CD8-positive, alpha-beta T cell (CL0001050)
    CSI Score: 1.2
  • Cell Name: brain vascular cell (CL4023072)
    CSI Score: 1.2
  • Cell Name: type I NK T cell (CL0000921)
    CSI Score: 1.2
  • Cell Name: glial cell (CL0000125)
    CSI Score: 1.2
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    CSI Score: 1.1
  • Cell Name: pancreatic ductal cell (CL0002079)
    CSI Score: 1.1
  • Cell Name: chondrocyte (CL0000138)
    CSI Score: 1.1
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    CSI Score: 1.0
  • Cell Name: mature alpha-beta T cell (CL0000791)
    CSI Score: 1.0
  • Cell Name: CD8-positive, alpha-beta thymocyte (CL0000811)
    CSI Score: 1.0
  • Cell Name: stem cell (CL0000034)
    CSI Score: 1.0
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    CSI Score: 0.9
  • Cell Name: helper T cell (CL0000912)
    CSI Score: 0.9
  • Cell Name: gut endothelial cell (CL0000131)
    CSI Score: 0.9
  • Cell Name: macrophage (CL0000235)
    CSI Score: 0.9
  • Cell Name: goblet cell (CL0000160)
    CSI Score: 0.9
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    CSI Score: 0.8
  • Cell Name: transit amplifying cell (CL0009010)
    CSI Score: 0.8

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Gene location and expression:** The ACTA2 gene is located on chromosome 15q22-q23 and is highly expressed in smooth muscle cells, particularly in the aorta and other blood vessels. 2. **Protein structure:** The ACTA2 protein is a member of the actin family and is composed of two alpha-actin domains, which are necessary for its function in smooth muscle contraction. 3. **Function:** The ACTA2 protein plays a critical role in the contraction and relaxation of smooth muscle cells, which is essential for maintaining blood pressure, regulating blood flow, and controlling the movement of the sphincter muscles. **Pathways and Functions:** 1. **Smooth muscle contraction:** The ACTA2 protein is involved in the contraction of smooth muscle cells, which is mediated by the interaction with calmodulin and myosin light chain kinase. 2. **Cell signaling:** The ACTA2 protein is also involved in cell signaling pathways, including the Notch and ERK pathways, which regulate smooth muscle cell proliferation, differentiation, and survival. 3. **Vascular development:** The ACTA2 protein is essential for the development of blood vessels and the formation of the vascular system. 4. **Fibrosis:** The ACTA2 protein has also been implicated in the development of fibrosis, particularly in the context of liver disease and pulmonary hypertension. **Clinical Significance:** 1. **Vasculitis:** Mutations in the ACTA2 gene have been associated with a subset of vasculitis cases, particularly those involving the large and medium-sized blood vessels. 2. **Fibromuscular dysplasia:** The ACTA2 gene has been identified as a major genetic contributor to fibromuscular dysplasia, a disease characterized by the abnormal growth of smooth muscle cells in blood vessels. 3. **Rhabdomyoma:** Mutations in the ACTA2 gene have also been associated with rhabdomyoma, a rare tumor of the heart. 4. **Hypertension:** The ACTA2 protein has been implicated in the development of hypertension, particularly in the context of vascular disease. In conclusion, the ACTA2 gene plays a critical role in the development and function of smooth muscle cells, and its dysfunction has been implicated in various diseases, including vasculitis, fibromuscular dysplasia, and rhabdomyoma. Further research is needed to fully understand the mechanisms by which the ACTA2 gene regulates smooth muscle function and to develop effective treatments for related diseases.

Genular Protein ID: 891602321

Symbol: ACTA_HUMAN

Name: Actin, aortic smooth muscle

UniProtKB Accession Codes:

P62736 B2R8A4 P03996 P04108 Q6FI19

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChEBI 5 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 ELM 1 EMBL 13 EMDB 1 Ensembl 3 ExpressionAtlas 1 GO 27 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PIR 1 PRIDE 1 PRINTS 1 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 2 RefSeq 3 Rhea 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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

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.