Details for: ACTG2

Gene ID: 72

Symbol: ACTG2

Ensembl ID: ENSG00000163017

Description: actin gamma 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: enteric smooth muscle cell (CL0002504)
    Fold Change: 30.0730
    Cell Significance Index: 158.2500
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 19.8465
    Cell Significance Index: -9.3700
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 11.0396
    Cell Significance Index: -10.5400
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 2.2810
    Cell Significance Index: 36.6000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 1.9934
    Cell Significance Index: 49.8300
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.0185
    Cell Significance Index: 7.6900
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.9789
    Cell Significance Index: 11.3300
  • Cell Name: basal-myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 0.6699
    Cell Significance Index: 4.9600
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.6226
    Cell Significance Index: 15.0800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4974
    Cell Significance Index: 94.6700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3350
    Cell Significance Index: 33.1400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2971
    Cell Significance Index: 268.3000
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.2337
    Cell Significance Index: 4.1300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1790
    Cell Significance Index: 32.2700
  • Cell Name: myoepithelial cell (CL0000185)
    Fold Change: 0.1666
    Cell Significance Index: 1.8900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1591
    Cell Significance Index: 25.8800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.1396
    Cell Significance Index: 63.3400
  • Cell Name: perivascular cell (CL4033054)
    Fold Change: 0.1299
    Cell Significance Index: 0.6000
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.1066
    Cell Significance Index: 0.9000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1049
    Cell Significance Index: 5.4500
  • Cell Name: theca cell (CL0000503)
    Fold Change: 0.0817
    Cell Significance Index: 0.4800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0748
    Cell Significance Index: 51.7000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.0664
    Cell Significance Index: 7.2300
  • Cell Name: embryonic fibroblast (CL2000042)
    Fold Change: 0.0439
    Cell Significance Index: 0.2100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0261
    Cell Significance Index: 0.7300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0197
    Cell Significance Index: 0.3300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0129
    Cell Significance Index: 1.7700
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.0124
    Cell Significance Index: 0.0900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0082
    Cell Significance Index: 0.5700
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.0065
    Cell Significance Index: 0.1000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0031
    Cell Significance Index: -0.1100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0045
    Cell Significance Index: -0.1300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0050
    Cell Significance Index: -9.4800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0070
    Cell Significance Index: -12.9600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0079
    Cell Significance Index: -3.5000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0080
    Cell Significance Index: -0.4900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0086
    Cell Significance Index: -13.3100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0098
    Cell Significance Index: -13.3100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0138
    Cell Significance Index: -8.7700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0162
    Cell Significance Index: -11.8700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0163
    Cell Significance Index: -12.3200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0181
    Cell Significance Index: -13.4000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0183
    Cell Significance Index: -0.8300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0200
    Cell Significance Index: -10.9400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0210
    Cell Significance Index: -13.1400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0211
    Cell Significance Index: -2.7100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0238
    Cell Significance Index: -13.4100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0263
    Cell Significance Index: -0.5700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0281
    Cell Significance Index: -2.9300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0323
    Cell Significance Index: -4.1700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0325
    Cell Significance Index: -11.6600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0329
    Cell Significance Index: -9.4600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0443
    Cell Significance Index: -5.4500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0501
    Cell Significance Index: -10.0400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0569
    Cell Significance Index: -11.2900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0640
    Cell Significance Index: -13.4700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0659
    Cell Significance Index: -1.3800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0678
    Cell Significance Index: -9.8600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0724
    Cell Significance Index: -12.3600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0840
    Cell Significance Index: -3.9500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.0976
    Cell Significance Index: -5.8600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0982
    Cell Significance Index: -10.0300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1040
    Cell Significance Index: -7.7500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1061
    Cell Significance Index: -12.3600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1070
    Cell Significance Index: -2.7500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1101
    Cell Significance Index: -12.9900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1160
    Cell Significance Index: -13.2900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1226
    Cell Significance Index: -5.7200
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.1509
    Cell Significance Index: -1.6400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1605
    Cell Significance Index: -8.3600
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: -0.1692
    Cell Significance Index: -1.6200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1775
    Cell Significance Index: -13.6200
  • Cell Name: muscle cell (CL0000187)
    Fold Change: -0.1892
    Cell Significance Index: -1.8100
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1963
    Cell Significance Index: -2.2300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2000
    Cell Significance Index: -13.4500
  • Cell Name: tendon cell (CL0000388)
    Fold Change: -0.2022
    Cell Significance Index: -2.7500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2165
    Cell Significance Index: -13.3100
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.2199
    Cell Significance Index: -3.2900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.2259
    Cell Significance Index: -4.8100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.2277
    Cell Significance Index: -11.5100
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: -0.2328
    Cell Significance Index: -2.3500
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -0.2336
    Cell Significance Index: -2.5600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2345
    Cell Significance Index: -7.5100
  • Cell Name: stromal cell of endometrium (CL0002255)
    Fold Change: -0.2418
    Cell Significance Index: -3.4400
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.2526
    Cell Significance Index: -2.6200
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -0.2563
    Cell Significance Index: -3.0200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2563
    Cell Significance Index: -14.3800
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2637
    Cell Significance Index: -5.4700
  • Cell Name: osteoblast (CL0000062)
    Fold Change: -0.2721
    Cell Significance Index: -2.6400
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.2734
    Cell Significance Index: -4.1200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2764
    Cell Significance Index: -14.5100
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.2802
    Cell Significance Index: -2.5800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2851
    Cell Significance Index: -12.6100
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.3072
    Cell Significance Index: -12.5900
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.3083
    Cell Significance Index: -7.7000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.3187
    Cell Significance Index: -8.5100
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.3207
    Cell Significance Index: -6.8600
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: -0.3323
    Cell Significance Index: -2.0800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.3330
    Cell Significance Index: -12.6100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3380
    Cell Significance Index: -11.8400

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. **Expression Pattern:** The ACTG2 gene is significantly expressed in smooth muscle cells, including uterine, large intestinal, and enteric smooth muscle cells, as well as in myoepithelial cells of the mammary gland and mesodermal cells. 2. **Cytoskeletal Component:** Actin gamma 2 is a crucial component of the cytoskeleton, playing a key role in maintaining cell shape, motility, and intracellular signaling. 3. **Muscle Contraction:** The ACTG2 gene is involved in regulating muscle contraction, a vital process in smooth muscle tissues, including the regulation of blood pressure and intestinal motility. 4. **Cell Migration:** Actin gamma 2 also plays a role in cell migration, a process essential for tissue development and repair. **Pathways and Functions:** 1. **Cytoskeleton Dynamics:** The ACTG2 gene is involved in regulating the dynamics of the cytoskeleton, including the assembly and disassembly of actin filaments, which is essential for maintaining cell shape and motility. 2. **Muscle Contraction Signaling:** The ACTG2 gene is regulated by various signaling pathways, including the Rho GTPase pathway, which is essential for regulating muscle contraction and cell migration. 3. **Gene Expression Regulation:** Actin gamma 2 also plays a role in regulating gene expression, including the regulation of muscle-specific genes, such as myosin heavy chain genes. 4. **Cell Signaling:** The ACTG2 gene is involved in various cell signaling pathways, including the regulation of cell adhesion, migration, and proliferation. **Clinical Significance:** 1. **Smooth Muscle Disorders:** Dysregulation of the ACTG2 gene has been implicated in various smooth muscle disorders, including hypertrophic cardiomyopathy, aortic aneurysm, and colon cancer. 2. **Muscle Contraction Disorders:** Abnormalities in the ACTG2 gene have been linked to muscle contraction disorders, including achalasia, a rare swallowing disorder characterized by impaired muscle contraction. 3. **Cancer Metastasis:** The ACTG2 gene has been implicated in the regulation of cancer cell migration and metastasis, highlighting its potential role in cancer therapy. 4. **Regenerative Medicine:** The ACTG2 gene has potential applications in regenerative medicine, including the development of tissue-engineered smooth muscle tissues for repairing damaged tissues. In conclusion, the ACTG2 gene plays a crucial role in maintaining the structural integrity and contractile function of smooth muscle tissues, and its dysregulation has been implicated in various diseases, including smooth muscle disorders, muscle contraction disorders, and cancer. Further research is needed to fully elucidate the role of the ACTG2 gene in human health and disease.

Genular Protein ID: 1564387319

Symbol: ACTH_HUMAN

Name: Actin, gamma-enteric smooth muscle

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 2377475

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

PubMed ID: 2377475

DOI: 10.1093/nar/18.14.4263

PubMed ID: 1710027

Title: Structure, chromosome location, and expression of the human smooth muscle (enteric type) gamma-actin gene: evolution of six human actin genes.

PubMed ID: 1710027

DOI: 10.1128/mcb.11.6.3296-3306.1991

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

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: 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: 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: 31993215

Title: Molecular basis for histidine N3-specific methylation of actin H73 by SETD3.

PubMed ID: 31993215

DOI: 10.1038/s41421-019-0135-5

PubMed ID: 22960657

Title: Segregation of a missense variant in enteric smooth muscle actin gamma-2 with autosomal dominant familial visceral myopathy.

PubMed ID: 22960657

DOI: 10.1053/j.gastro.2012.08.045

PubMed ID: 24777424

Title: Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction.

PubMed ID: 24777424

DOI: 10.1055/s-0034-1365142

PubMed ID: 24337657

Title: De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.

PubMed ID: 24337657

DOI: 10.1007/s00439-013-1406-0

PubMed ID: 24676022

Title: Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.

PubMed ID: 24676022

DOI: 10.1371/journal.pgen.1004258

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

PubMed ID: 26647307

Title: ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.

PubMed ID: 26647307

DOI: 10.1093/hmg/ddv497

PubMed ID: 28422808

Title: Diagnosis of chronic intestinal pseudo-obstruction and megacystis by sequencing the ACTG2 gene.

PubMed ID: 28422808

DOI: 10.1097/mpg.0000000000001608

PubMed ID: 29781137

Title: Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction.

PubMed ID: 29781137

DOI: 10.1111/nmo.13371

PubMed ID: 33294969

Title: Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction.

PubMed ID: 33294969

DOI: 10.1111/cge.13895

PubMed ID: 33880338

Title: Visceral myopathy diagnosed by a de novo ACTG2 mutation in a patient with chronic intestinal pseudo-obstruction-a case report.

PubMed ID: 33880338

DOI: 10.21037/tp-20-316

Sequence Information:

  • Length: 376
  • Mass: 41877
  • Checksum: 6EC08CD5EEAD445E
  • Sequence:
  • MCEEETTALV CDNGSGLCKA GFAGDDAPRA VFPSIVGRPR HQGVMVGMGQ KDSYVGDEAQ 
    SKRGILTLKY PIEHGIITNW DDMEKIWHHS FYNELRVAPE EHPTLLTEAP LNPKANREKM 
    TQIMFETFNV PAMYVAIQAV LSLYASGRTT GIVLDSGDGV THNVPIYEGY ALPHAIMRLD 
    LAGRDLTDYL MKILTERGYS FVTTAEREIV RDIKEKLCYV ALDFENEMAT AASSSSLEKS 
    YELPDGQVIT IGNERFRCPE TLFQPSFIGM ESAGIHETTY NSIMKCDIDI RKDLYANNVL 
    SGGTTMYPGI ADRMQKEITA LAPSTMKIKI IAPPERKYSV WIGGSILASL STFQQMWISK 
    PEYDEAGPSI VHRKCF

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.