ACTG2

actin gamma 2, smooth muscle, the group of Actins

Basic information

Region (hg38): 2:73892314-73919865

Previous symbols: [ "ACTL3", "ACTA3" ]

Links

ENSG00000163017NCBI:72OMIM:102545HGNC:145Uniprot:P63267AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • visceral myopathy 1 (Strong), mode of inheritance: AD
  • familial visceral myopathy (Supportive), mode of inheritance: AD
  • megacystis-microcolon-intestinal hypoperistalsis syndrome (Supportive), mode of inheritance: AD
  • visceral myopathy 1 (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Visceral myopathy 1; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5ADGastrointestinalIndividuals have been described as presenting with findings including chronic intestinal pseudo-obstruction and related abdominal signs and symptoms, and genetic knowledge may help avoid unnecessary surgery (medical management has been described as at least partially effective in some individuals); TPN and urinary catheterization may be beneficialGastrointestinal; Genitourinary; Neurologic19098683; 24676022; 24777424; 26647307; 27481187; 28422808; 31769566
Conditions related to variants in ACTG2 are reported to overlap phenotypically

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ACTG2 gene.

  • Visceral_myopathy_1 (39 variants)
  • not_provided (37 variants)
  • Megacystis-microcolon-intestinal_hypoperistalsis_syndrome_5 (20 variants)
  • Inborn_genetic_diseases (13 variants)
  • ACTG2-related_disorder (9 variants)
  • Chronic_intestinal_pseudoobstruction (6 variants)
  • Megacystis (2 variants)
  • Visceral_neuropathy,_familial,_3,_autosomal_dominant (2 variants)
  • not_specified (1 variants)
  • Intestinal_pseudo-obstruction (1 variants)
  • Constipation (1 variants)
  • Intestinal_obstruction (1 variants)
  • Megacystis,_microcolon,_hypoperistalsis_syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACTG2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001615.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
3
clinvar
3
clinvar
6
missense
19
clinvar
22
clinvar
40
clinvar
81
nonsense
0
start loss
0
frameshift
1
clinvar
1
splice donor/acceptor (+/-2bp)
1
clinvar
1
Total 19 24 40 3 3

Highest pathogenic variant AF is 0.000166942

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ACTG2protein_codingprotein_codingENST00000409624 827552
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.07100.9271257340141257480.0000557
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense3.35862280.3760.00001292480
Missense in Polyphen3086.6410.34625971
Synonymous0.6407784.50.9110.00000461735
Loss of Function2.66516.70.2998.65e-7197

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001850.000182
Ashkenazi Jewish0.00009920.0000992
East Asian0.0001140.000109
Finnish0.000.00
European (Non-Finnish)0.00003670.0000352
Middle Eastern0.0001140.000109
South Asian0.0001090.0000980
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.;
Disease
DISEASE: Visceral myopathy (VSCM) [MIM:155310]: A rare inherited form of myopathic pseudo-obstruction characterized by impaired function of enteric smooth muscle cells, resulting in abnormal intestinal motility, severe abdominal pain, malnutrition, and even death. The disease shows inter- and intrafamilial variability. Most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and dependence on total parenteral nutrition and urinary catheterization. {ECO:0000269|PubMed:22960657, ECO:0000269|PubMed:24337657, ECO:0000269|PubMed:24676022, ECO:0000269|PubMed:24777424}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Pathway
Vascular smooth muscle contraction - Homo sapiens (human);Common Pathways Underlying Drug Addiction;Smooth Muscle Contraction;Muscle contraction (Consensus)

Recessive Scores

pRec
0.673

Intolerance Scores

loftool
0.301
rvis_EVS
-0.36
rvis_percentile_EVS
28.63

Haploinsufficiency Scores

pHI
0.894
hipred
Y
hipred_score
0.782
ghis
0.545

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.702

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Actg2
Phenotype

Gene ontology

Biological process
muscle contraction;positive regulation of gene expression;mesenchyme migration
Cellular component
extracellular space;cytoplasm;cytosol;lamellipodium;filopodium;myosin filament;cell body;extracellular exosome;cell periphery;blood microparticle
Molecular function
ATP binding