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: polychromatophilic erythroblast (CL0000550)
    Fold Change: 191.8413
    Cell Significance Index: -29.8400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 112.9933
    Cell Significance Index: -28.6600
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 66.8289
    Cell Significance Index: -27.5300
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 58.1897
    Cell Significance Index: -23.6400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 53.6619
    Cell Significance Index: -25.3400
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 27.5663
    Cell Significance Index: 145.0600
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 24.7606
    Cell Significance Index: -23.6400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 24.2020
    Cell Significance Index: -29.8400
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 10.8591
    Cell Significance Index: -29.0900
  • Cell Name: perivascular cell (CL4033054)
    Fold Change: 7.6409
    Cell Significance Index: 35.2800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 7.5975
    Cell Significance Index: -29.9800
  • Cell Name: theca cell (CL0000503)
    Fold Change: 6.7013
    Cell Significance Index: 39.3700
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 3.8138
    Cell Significance Index: 67.4000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 2.9705
    Cell Significance Index: 309.3000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 2.1538
    Cell Significance Index: 295.7700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.9968
    Cell Significance Index: 3759.7300
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 1.9744
    Cell Significance Index: 12.2200
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 1.8487
    Cell Significance Index: 13.8400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.5407
    Cell Significance Index: 699.2700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.2605
    Cell Significance Index: 239.8900
  • Cell Name: basal-myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 1.1791
    Cell Significance Index: 8.7300
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.9714
    Cell Significance Index: 12.4400
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.9279
    Cell Significance Index: 10.7400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.8782
    Cell Significance Index: 86.8700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.6740
    Cell Significance Index: 46.6100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.6240
    Cell Significance Index: 13.2900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5891
    Cell Significance Index: 531.9200
  • Cell Name: embryonic fibroblast (CL2000042)
    Fold Change: 0.5791
    Cell Significance Index: 2.7700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4509
    Cell Significance Index: 73.3400
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.4412
    Cell Significance Index: 8.6100
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.4040
    Cell Significance Index: 6.2500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3753
    Cell Significance Index: 40.8200
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.3607
    Cell Significance Index: 3.0300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.3550
    Cell Significance Index: 45.5100
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.2736
    Cell Significance Index: 6.3200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.2630
    Cell Significance Index: 15.7900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2611
    Cell Significance Index: 51.8100
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 0.2490
    Cell Significance Index: 1.1500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2196
    Cell Significance Index: 44.0600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1746
    Cell Significance Index: 95.3700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1535
    Cell Significance Index: 106.2000
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0737
    Cell Significance Index: 3.7200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0546
    Cell Significance Index: 9.8400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0451
    Cell Significance Index: 0.7500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0228
    Cell Significance Index: 10.0800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0032
    Cell Significance Index: 0.0800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0039
    Cell Significance Index: -2.4800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0105
    Cell Significance Index: -0.3700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0134
    Cell Significance Index: -24.6400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0141
    Cell Significance Index: -21.6900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0165
    Cell Significance Index: -10.3100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0170
    Cell Significance Index: -12.6100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0179
    Cell Significance Index: -2.2000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0195
    Cell Significance Index: -11.0200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0196
    Cell Significance Index: -26.6500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0287
    Cell Significance Index: -21.6900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0354
    Cell Significance Index: -25.9300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0415
    Cell Significance Index: -5.3600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0499
    Cell Significance Index: -5.1000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0508
    Cell Significance Index: -1.1000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0522
    Cell Significance Index: -18.7300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0534
    Cell Significance Index: -2.4200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0637
    Cell Significance Index: -3.3200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0682
    Cell Significance Index: -14.3700
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: -0.0721
    Cell Significance Index: -0.6900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0872
    Cell Significance Index: -12.6700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0916
    Cell Significance Index: -26.3500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0929
    Cell Significance Index: -15.8700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0971
    Cell Significance Index: -7.2400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0991
    Cell Significance Index: -11.5500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1186
    Cell Significance Index: -8.3900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1583
    Cell Significance Index: -7.4400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.1617
    Cell Significance Index: -4.6600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1700
    Cell Significance Index: -10.4200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1776
    Cell Significance Index: -20.9400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1976
    Cell Significance Index: -22.5600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2034
    Cell Significance Index: -5.8300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2113
    Cell Significance Index: -24.2100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.2437
    Cell Significance Index: -5.1000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.2548
    Cell Significance Index: -11.8800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2823
    Cell Significance Index: -21.6600
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: -0.2829
    Cell Significance Index: -2.3400
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2830
    Cell Significance Index: -5.8700
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.2907
    Cell Significance Index: -3.1600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.3078
    Cell Significance Index: -19.8600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3377
    Cell Significance Index: -22.7100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3384
    Cell Significance Index: -26.8100
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.3431
    Cell Significance Index: -4.9300
  • Cell Name: mural cell (CL0008034)
    Fold Change: -0.4189
    Cell Significance Index: -5.1000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.4253
    Cell Significance Index: -26.1400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.4368
    Cell Significance Index: -22.6900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.4612
    Cell Significance Index: -14.7700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.4667
    Cell Significance Index: -26.1900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.4860
    Cell Significance Index: -30.6300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.4953
    Cell Significance Index: -17.2100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.5155
    Cell Significance Index: -13.5600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.5579
    Cell Significance Index: -29.2900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.5625
    Cell Significance Index: -24.8800
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.5675
    Cell Significance Index: -17.9500
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.5959
    Cell Significance Index: -8.9800

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.