ACTG2 - actin gamma 2, smooth muscle Gene

Homo sapiens

Also known as ACT; ACTE; VSCM; ACTA3; ACTL3; ACTSG; VSCM1; MMIHS5

Gene ID: 72 | Gene type: protein coding

About ACTG2

Cytogenetic location: 2p13.1 Genomic coordinates (GRCh38): 2:73,893,008-73,919,865 (from NCBI)

This gene has 9 transcripts (splice variants), 120 orthologues, 26 paralogues and is associated with 5 phenotypes. Biased expression in prostate (RPKM 1093.2), urinary bladder (RPKM 1063.1) and 7 other tissues.

Summary

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]

ACTG2 Products(2)

mRNA	Protein	Name
NM_001199893.2	NP_001186822.1	actin, gamma-enteric smooth muscle isoform 2 precursor
NM_001615.4	NP_001606.1	actin, gamma-enteric smooth muscle isoform 1 precursor

ACTG2 Protein Structure

Actin

0
100
200
300
376 a.a.

Protein Preferred Names

Protein Names

actin, gamma-enteric smooth muscle

actin, gamma 2, smooth muscle, enteric

Related Diseases

Diseases

Alias

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5

MMIHS5

Visceral Myopathy 1

Visceral Myopathy	Megaduodenum And/Or Megacystis
VSCM1	Pseudoobstruction, Idiopathic Intestinal
Vscm	Pseudoobstruction Idiopathic Intestinal
Visceral Myopathy Familial	Berdon Syndrome
Idiopathic Intestinal Pseudoobstruction	Infantile Visceral Myopathy
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Mmih
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome	Intestinal Pseudo-Obstruction
Visceral Neuropathy, Familial, Autosomal Dominant

Intestinal Pseudo-Obstruction

Chronic Intestinal Pseudoobstruction	Chronic Intestinal Pseudo-Obstruction
Cipo	Neuronal Intestinal Dysplasia
Hollow Visceral Myopathy	Familial Visceral Neuropathy
Paralytic Ileus	Intestinal Pseudoobstruction
Chronic Idiopathic Intestinal Pseudo-Obstruction	Ciip
Congenital Short Bowel Syndrome	Enteric Neuropathy
Familial Visceral Myopathy	Ipo
Pseudo-Obstruction Of Intestine	Pseudointestinal Obstruction Syndrome
Pseudoobstructive Syndrome	Congenital Idiopathic Intestinal Pseudoobstruction
Visceral Myopathy, Familial

Autosomal Dominant Familial Visceral Neuropathy

Visceral Neuropathy, Familial, Autosomal Dominant

Visceral Neuropathy, Familial, 3, Autosomal Dominant

VSCN3	Enteric Neuropathy, Familial
Pseudoobstruction, Chronic Intestinal, Neuropathic	Pseudoobstruction, Idiopathic Intestinal

Actg2 Visceral Myopathy

Familial Visceral Myopathy	Berdon Syndrome
Familial Hollow Visceral Myopathy	Hereditary Hollow Visceral Myopathy
Megaduodenum And/Or Megacystis

Myopathic Intestinal Pseudoobstruction

Hyperinsulinism

Hyperinsulinemia

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Berdon Syndrome
MMIHS	Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
Megacystis, Microcolon, Hypoperistalsis Syndrome	Visceral Myopathy
Mmih Syndrome	Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome
MMIHS1	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Mmih
Mmhs

Intestinal Obstruction

Inspissated Milk Syndrome

Milk Curd Syndrome

Microcolon

Csf1r-Related Brain Malformation And Osteopetrosis

Osteoporosis And Infantile Neuroaxonal Dystrophy

Breast Myoepithelial Carcinoma

Hydronephrosis

Stricture Of Ureteropelvic Junction With Hydronephrosis

Hydronephrosis With Ureteral Stricture, Not Elsewhere Classified

Papillary Hidradenoma

Tubular Sweat Gland Adenomas

Prune Belly Syndrome

Eagle-Barrett Syndrome	Abdominal Muscle Deficiency Syndrome
PBS	Abdominal Muscles, Absence Of, With Urinary Tract Abnormality And Cryptorchidism
Egbrs	Eagle-Barret Syndrome
Urethral Obstruction Sequence	Obrinsky Syndrome
Triad Syndrome	Obrisnksy Syndrome
Euos	Early Urethral Obstruction Sequence
Renal Dysplasia Or Hydronephrosis, Oligohydramnios And Subsequent Lung Hypoplasia Due To Urethral Obstruction	Absence Of Abdominal Muscles With Urinary Tract Abnormality And Cryptorchidism
Abdomen Muscle Deficiency Syndrome	Abdomen Muscular Deficiency Syndrome
Abdominal Muscular Deficiency Syndrome	Abdominal Muscle Aplasia Syndrome

Myopathy

Muscular Diseases

Myopathies

Skin Amelanotic Melanoma

Skin Amelanotic Malignant Melanoma

Amelanotic Skin Melanoma

Urofacial Syndrome 1

Urofacial Syndrome	Ochoa Syndrome
Hydronephrosis With Peculiar Facial Expression	Ufs
Inverted Smile And Occult Neuropathic Bladder	Partial Facial Palsy With Urinary Abnormalities
UFS1	Urofacial Ochoa'S Syndrome
Urofacial Syndrome Type 1	Facial Palsy, Partial, With Urinary Abnormalities
Hydronephrosis-Inverted Smile	Inverted Smile-Neurogenic Bladder
Hydronephrosis-Inverted Smile Syndrome	Inverted Smile-Neurogenic Bladder Syndrome
Partial Facial Palsy Partial With Urinary Abnormalities	Urologic Diseases

Hirschsprung Disease 1

Hirschsprung Disease	Aganglionic Megacolon
Hscr	Hirschsprung'S Disease
Congenital Megacolon	Congenital Intestinal Aganglionosis
Colonic Aganglionosis	Hirschsprung Disease, Susceptibility To, 1
Hirschsprung Disease, Protection Against	HSCR1
Mgc	Pelvirectal Achalasia
Total Intestinal Aganglionosis	Megacolon, Aganglionic
Macrocolon	Hscr 1
Hirschsprung Disease Type 1	Hirschsprung Disease, Type 1
Congenital Dilatation Of Colon	Aganglionosis
Congenital Aganglionic Megacolon	Aganglionosis Of Colon
Bowel Aganglionosis	Colon Aganglionosis
Hirschsprung Megacolon

Aortic Aneurysm, Familial Thoracic 1

Thoracic Aortic Aneurysm	Annuloaortic Ectasia
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Familial Aortic Dissection
Familial Taad	Familial Thoracic Aortic Aneurysm
Congenital Aneurysm Of Ascending Aorta	Familial Aortic Aneurysm
Familial Thoracic Aortic Aneurysm And Dissection	Aortic Aneurysm, Thoracic
AAT1	Faa1
Aortic Dissection, Familial	Aortic Aneurysm, Familial Thoracic
Aneurysm, Thoracic Aortic	Faa
Ftaad	Taa
Taad	Cystic Medial Necrosis Of Aorta
Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection	Aortic Aneurysm Thoracic
Familial Aortic Aneurysms	Aneurysm, Aortic, Thoracic, Familial, Type 1
Aneurysm Of Thoracic Aorta	Intrathoracic Aneurysm
Thoracic Aorta Aneurysm	Thoracic Aortic Aneurysm Without Rupture
Thoracic Aneurysm	Thorax Arterial Aneurysm
Thoracic Artery Aneurysm	Thoracic Arterial Aneurysm
Thorax Aneurysm	Thorax Aortic Aneurysm
Dissection Of Thoracic Aorta

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00219	ACTG2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ACTG2	RGD	RGD:2027
Felis catus	ACTG2	VGNC	VGNC:59544
Canis familiaris	ACTG2	VGNC	VGNC:37541
Mus musculus	ACTG2	MGD	MGI:104589
Macaca mulatta	ACTG2	VGNC	VGNC:69397
Bos taurus	ACTG2	VGNC	VGNC:59201

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