Details for: ACTG2

Gene ID: 72

Symbol: ACTG2

Ensembl ID: ENSG00000163017

Description: actin gamma 2, smooth muscle

Associated with

Cells (max top 100)

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

  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: 5.33
    Marker Score: 6,939
  • Cell Name: smooth muscle cell of large intestine (CL1000279)
    Fold Change: 3.08
    Marker Score: 1,167
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 2.92
    Marker Score: 6,866
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 2.23
    Marker Score: 10,937
  • Cell Name: muscle cell (CL0000187)
    Fold Change: 2.23
    Marker Score: 630
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 2
    Marker Score: 586
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 1.88
    Marker Score: 24,845
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 1.79
    Marker Score: 3,367
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.6
    Marker Score: 1,160
  • Cell Name: oocyte (CL0000023)
    Fold Change: 1.52
    Marker Score: 375
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 1.48
    Marker Score: 976
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.48
    Marker Score: 169,570
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 1.38
    Marker Score: 735
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.36
    Marker Score: 862
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.31
    Marker Score: 1,303
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.18
    Marker Score: 2,598
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 1.18
    Marker Score: 1,258
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4,804
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.06
    Marker Score: 1,334
  • Cell Name: blood vessel smooth muscle cell (CL0019018)
    Fold Change: 1.04
    Marker Score: 274
  • Cell Name: fibrocyte (CL0000135)
    Fold Change: 1.02
    Marker Score: 315
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,815
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,040
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,408
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.97
    Marker Score: 500
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: 0.97
    Marker Score: 335
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.96
    Marker Score: 454
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,412
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 0.93
    Marker Score: 331
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5,311
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.92
    Marker Score: 367
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,735
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 0.9
    Marker Score: 289
  • Cell Name: smooth muscle cell of small intestine (CL1000275)
    Fold Change: 0.9
    Marker Score: 236
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.89
    Marker Score: 320
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.89
    Marker Score: 226
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,282
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.79
    Marker Score: 416
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,264
  • Cell Name: bronchial smooth muscle cell (CL0002598)
    Fold Change: 0.77
    Marker Score: 218
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.76
    Marker Score: 693
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.75
    Marker Score: 389
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 0.75
    Marker Score: 407
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 0.72
    Marker Score: 610
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.71
    Marker Score: 544
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 174
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 0.64
    Marker Score: 1,285
  • Cell Name: myometrial cell (CL0002366)
    Fold Change: 0.64
    Marker Score: 183
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.56
    Marker Score: 330
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.56
    Marker Score: 234
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 0.55
    Marker Score: 755
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.54
    Marker Score: 144
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.53
    Marker Score: 1,071
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 0.52
    Marker Score: 325
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.51
    Marker Score: 172
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.51
    Marker Score: 787
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.51
    Marker Score: 160
  • Cell Name: myoepithelial cell (CL0000185)
    Fold Change: 0.5
    Marker Score: 141
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 0.49
    Marker Score: 458
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 0.48
    Marker Score: 228
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: 0.47
    Marker Score: 217
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.46
    Marker Score: 272
  • Cell Name: motor neuron (CL0000100)
    Fold Change: 0.44
    Marker Score: 264
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 0.41
    Marker Score: 501
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.4
    Marker Score: 103
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.39
    Marker Score: 654
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 0.37
    Marker Score: 154
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: 0.36
    Marker Score: 199
  • Cell Name: theca cell (CL0000503)
    Fold Change: 0.35
    Marker Score: 250
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.35
    Marker Score: 183
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.33
    Marker Score: 323
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.33
    Marker Score: 150
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.33
    Marker Score: 103
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.33
    Marker Score: 146
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.32
    Marker Score: 100
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.31
    Marker Score: 129
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.31
    Marker Score: 642
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.31
    Marker Score: 1,143
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.31
    Marker Score: 141
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.29
    Marker Score: 549
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.29
    Marker Score: 288
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.28
    Marker Score: 4,403
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.26
    Marker Score: 296
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.26
    Marker Score: 308
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.26
    Marker Score: 1,129
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.26
    Marker Score: 634
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 0.24
    Marker Score: 107
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.24
    Marker Score: 143
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.23
    Marker Score: 290
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 64
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.22
    Marker Score: 107
  • Cell Name: effector CD8-positive, alpha-beta T cell (CL0001050)
    Fold Change: 0.22
    Marker Score: 182
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.22
    Marker Score: 138
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.21
    Marker Score: 77
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.21
    Marker Score: 119
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.21
    Marker Score: 122
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.21
    Marker Score: 72
  • Cell Name: regular cardiac myocyte (CL0002098)
    Fold Change: 0.21
    Marker Score: 77
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.21
    Marker Score: 189

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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:

P63267 B2R7E7 B4E315 D6W5H8 E9PG30 P12718 Q504R1 Q6FI22

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CORUM 1 CTD 1 ChEBI 5 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 10 Ensembl 3 ExpressionAtlas 1 GO 15 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OGP 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 1 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 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 Rhea 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 5 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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.