ACTG2 Chromosome 2
Actin gamma 2, smooth muscle
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What This Gene Does
Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010]
Gene Info
Gene Group
Actins
Locus Type
gene with protein product
Location
2p13.1
Ensembl
ENSG00000163017
Associated Conditions (14)
Visceral myopathy 1
ACTG2-related disorder
Megacystis-microcolon-intestinal hypoperistalsis syndrome 5
Megacystis
microcolon
hypoperistalsis syndrome
Chronic intestinal pseudoobstruction
Intestinal obstruction
Inborn genetic diseases
Visceral neuropathy
familial
3
autosomal dominant
Constipation
Key Variants
RS1057520694
Conflicting classifications of pathogenicity
Visceral myopathy 1, ACTG2-related disorder, Visceral myopathy 1
Health Risk
RS1057522054
Likely pathogenic
Health Risk
RS1247270735
Likely pathogenic
Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, Megacystis-microcolon-intestinal hypoperistalsis syndrome 5
Health Risk
RS1462841170
Likely pathogenic
Visceral myopathy 1, Visceral myopathy 1
Health Risk
RS1573461481
Likely pathogenic
Visceral myopathy 1, Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, Visceral myopathy 1
Health Risk
RS1573462811
Likely pathogenic
Visceral myopathy 1, Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, Megacystis-microcolon-intestinal hypoperistalsis syndrome 5
Health Risk
RS1573468797
Likely pathogenic
Visceral myopathy 1, Visceral myopathy 1
Health Risk
RS1680192455
Likely pathogenic
Visceral myopathy 1, Visceral myopathy 1
Health Risk
RS2104815901
Likely pathogenic
Megacystis, microcolon, hypoperistalsis syndrome
Health Risk
RS2104821169
Likely pathogenic
Visceral myopathy 1, Visceral myopathy 1
Health Risk
RS2104825201
Likely pathogenic
Chronic intestinal pseudoobstruction, Chronic intestinal pseudoobstruction
Health Risk
RS587777383
Likely pathogenic
Visceral myopathy 1, Chronic intestinal pseudoobstruction, Intestinal obstruction
Health Risk
All Variants (30)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057520694 | Health Risk | Conflicting classifications of pathogenicity | Visceral myopathy 1, ACTG2-related disorder, Visceral myopathy 1 |
| RS1057522054 | Health Risk | Likely pathogenic | — |
| RS1247270735 | Health Risk | Likely pathogenic | Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 |
| RS1462841170 | Health Risk | Likely pathogenic | Visceral myopathy 1, Visceral myopathy 1 |
| RS1573461481 | Health Risk | Likely pathogenic | Visceral myopathy 1, Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, Visceral myopathy 1 |
| RS1573462811 | Health Risk | Likely pathogenic | Visceral myopathy 1, Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 |
| RS1573468797 | Health Risk | Likely pathogenic | Visceral myopathy 1, Visceral myopathy 1 |
| RS1680192455 | Health Risk | Likely pathogenic | Visceral myopathy 1, Visceral myopathy 1 |
| RS2104815901 | Health Risk | Likely pathogenic | Megacystis, microcolon, hypoperistalsis syndrome |
| RS2104821169 | Health Risk | Likely pathogenic | Visceral myopathy 1, Visceral myopathy 1 |
| RS2104825201 | Health Risk | Likely pathogenic | Chronic intestinal pseudoobstruction, Chronic intestinal pseudoobstruction |
| RS587777383 | Health Risk | Likely pathogenic | Visceral myopathy 1, Chronic intestinal pseudoobstruction, Intestinal obstruction |
| RS757905857 | Health Risk | Likely pathogenic | Visceral myopathy 1, Visceral myopathy 1 |
| RS864309492 | Health Risk | Likely pathogenic | Visceral myopathy 1, Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, Visceral myopathy 1 |
| RS1057516046 | Health Risk | Pathogenic | Visceral myopathy 1, Visceral myopathy 1 |
| RS1553396458 | Health Risk | Pathogenic | Visceral myopathy 1, ACTG2-related disorder, Visceral myopathy 1 |
| RS587777384 | Health Risk | Pathogenic | Visceral myopathy 1, Inborn genetic diseases, Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 |
| RS587777387 | Health Risk | Pathogenic | Visceral myopathy 1, Inborn genetic diseases, Chronic intestinal pseudoobstruction |
| RS587777870 | Health Risk | Pathogenic | Visceral myopathy 1, Visceral myopathy 1 |
| RS768290597 | Health Risk | Pathogenic | Visceral myopathy 1, Visceral myopathy 1 |
| RS78001248 | Health Risk | Pathogenic | Visceral myopathy 1, ACTG2-related disorder, Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 |
| RS797044959 | Health Risk | Pathogenic | Inborn genetic diseases, Chronic intestinal pseudoobstruction, Megacystis |
| RS864309490 | Health Risk | Pathogenic | Visceral myopathy 1, Visceral myopathy 1 |
| RS864309491 | Health Risk | Pathogenic | Visceral myopathy 1, Visceral myopathy 1 |
| RS869312168 | Health Risk | Pathogenic | Chronic intestinal pseudoobstruction, Chronic intestinal pseudoobstruction |
| RS140943831 | Health Risk | Pathogenic/Likely pathogenic | Visceral myopathy 1, Visceral myopathy 1 |
| RS587777385 | Health Risk | Pathogenic/Likely pathogenic | Visceral myopathy 1, Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, ACTG2-related disorder |
| RS587777386 | Health Risk | Pathogenic/Likely pathogenic | Visceral myopathy 1, Visceral neuropathy, familial |
| RS587777388 | Health Risk | Pathogenic/Likely pathogenic | Visceral myopathy 1, Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, Visceral myopathy 1 |
| RS730880256 | Health Risk | Pathogenic/Likely pathogenic | Visceral myopathy 1, Visceral myopathy 1 |