1. Gene
  2. ACTG2 - actin gamma 2, smooth muscle Gene

ACTG2 - actin gamma 2, smooth muscle Gene

中文名称:肌动蛋白伽玛 2,平滑肌

种属: Homo sapiens

同用名: ACT; ACTE; VSCM; ACTA3; ACTL3; ACTSG; VSCM1; MMIHS5

基因 ID: 72 | 基因类型: protein coding

关于 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.

功能概要

肌动蛋白是高度保守的蛋白质,参与各种类型的细胞运动和细胞骨架的维持。已经在脊椎动物中鉴定出三种类型的肌动蛋白,α、β 和γ。 α 肌动蛋白存在于肌肉组织中,是收缩装置的主要成分。 β 和 γ 肌动蛋白作为细胞骨架的组成部分和内部细胞运动的介质在大多数细胞类型中共存。该基因编码肌动蛋白γ2;肠组织中发现的一种平滑肌肌动蛋白。可变剪接导致编码不同异构体的多个转录变体。基于与相关肌动蛋白肽切割的相似性,该基因的成熟蛋白是通过去除两个 N 末端肽形成的。[RefSeq 提供,2010 年 12 月]

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 基因产物(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 蛋白结构

Actin

Actin: Actin (4 - 376)

  • 0
  • 100
  • 200
  • 300
  • 376 a.a.
蛋白主名 其他名称

actin, gamma-enteric smooth muscle

actin, gamma 2, smooth muscle, enteric

ACTG2 抗体

目录号 产品名 应用 反应物种
HY-P85827 Actin smooth muscle (SMA) Antibody (YA5519) IHC-P, WB, ICC/IF, ELISA Human, Mouse, Rat
HY-P85828 Actin Muscle Specific Antibody (YA5520) IHC-P, WB, ICC/IF, ELISA Human, Mouse, Rat, Monkey, Bovin, Pig, Chick

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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