SMTN - smoothelin Gene

Homo sapiens

Gene ID: 6525 | Gene type: protein coding

About SMTN

Cytogenetic location: 22q12.2 Genomic coordinates (GRCh38): 22:31,064,118-31,104,624 (from NCBI)

This gene has 24 transcripts (splice variants) and 125 orthologues. Broad expression in prostate (RPKM 39.0), endometrium (RPKM 30.0) and 20 other tissues.

Summary

This gene encodes a structural protein that is found exclusively in contractile smooth muscle cells. It associates with stress fibers and constitutes part of the Cytoskeleton. This gene is localized to chromosome 22q12.3, distal to the TUPLE1 locus and outside the DiGeorge syndrome deletion. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2011]

SMTN Products(16)

mRNA	Protein	Name
NM_001207017.1	NP_001193946.1	smoothelin isoform d
NM_001207018.2	NP_001193947.1	smoothelin isoform e
NM_001382638.1	NP_001369567.1	smoothelin isoform b
NM_001382639.1	NP_001369568.1	smoothelin isoform b
NM_001382640.1	NP_001369569.1	smoothelin isoform b
NM_001382641.1	NP_001369570.1	smoothelin isoform b
NM_001382642.1	NP_001369571.1	smoothelin isoform f
NM_001382643.1	NP_001369572.1	smoothelin isoform g
NM_001382644.1	NP_001369573.1	smoothelin isoform g
NM_001382645.1	NP_001369574.1	smoothelin isoform h
NM_001382646.1	NP_001369575.1	smoothelin isoform i
NM_001382647.1	NP_001369576.1	smoothelin isoform j
NM_001382648.1	NP_001369577.1	smoothelin isoform k
NM_006932.5	NP_008863.3	smoothelin isoform c
NM_134269.3	NP_599031.1	smoothelin isoform b
NM_134270.3	NP_599032.2	smoothelin isoform a

SMTN Protein Structure

Smoothelin

0
200
400
600
800
917 a.a.

Protein Preferred Names

Protein Names

smoothelin

Related Diseases

Diseases

Alias

Atrophy Of Prostate

Glomangiomyoma

Malignant Mesenchymoma

Malignant Mesenchymal Tumor	Mesenchymoma, Malignant
Sarcoma	Rat Malignant Renal Mesenchymal Tumor

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

Spondylometaphyseal Dysplasia, Sedaghatian Type

SMDS	Sedaghatian Chondrodysplasia
Spondylometaphyseal Dysplasia Sedaghatian Type	Congenital Lethal Metaphyseal Chondrodysplasia
Metaphyseal Chondrodysplasia, Congenital Lethal	Lethal Metaphyseal Dysplasia

Neurogenic Bladder

Neurogenic Dysfunction Of The Urinary Bladder	Neurogenic Urinary Bladder Disorder
Neuropathic Bladder	Bladder Neurogenic
Urinary Bladder, Neurogenic	Neurogenic Urinary Bladder

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

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

Lipoprotein Quantitative Trait Locus

Coronary Artery Disease	Coronary Artery Anomaly
Coronary Artery Disease, Susceptibility To	Myocardial Ischemia
Congenital Anomaly Of Coronary Artery	Coronary Arteriosclerosis
Coronary Disease	Coronary Heart Disease
Coronary Artery Disorder	LPAQTL
Lpa Deficiency, Congenital	Coronary Artery Abnormality
Coronary Artery Anomaly, Congenital	Chd
Coronary Syndrome	Congenital Malformations Of Coronary Vessels
Malformation Of Coronary Vessels	Congenital Coronary Artery Anomaly
Congenital Coronary Artery Deformity	Congenital Coronary Artery Disorder
Abnormal Coronary Artery	Congenital Coronary Artery Malposition
Congenital Coronary Disease	Congenital Anomaly Of Coronary Arteries

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13455	SMTN Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SMTN	VGNC	VGNC:46575
Mus musculus	SMTN	MGD	MGI:1354727
Felis catus	SMTN	VGNC	VGNC:65506
Macaca mulatta	SMTN	VGNC	VGNC:77661
Bos taurus	SMTN	VGNC	VGNC:35036
Rattus norvegicus	SMTN	RGD	RGD:1310216