SMTN (smoothelin)

Gene

• Entrez ID: 6525
• Gene name: Smoothelin
• Gene symbol: SMTN
• Synonyms (NCBI Gene): -
• Chromosome: 22
• Chromosome location: 22q12.2
• 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 ou

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT529848	hsa-miR-548aa	PAR-CLIP	22012620
MIRT529847	hsa-miR-548ap-3p	PAR-CLIP	22012620
MIRT529846	hsa-miR-548t-3p	PAR-CLIP	22012620
MIRT529845	hsa-miR-32-3p	PAR-CLIP	22012620
MIRT529844	hsa-miR-570-3p	PAR-CLIP	22012620
MIRT529843	hsa-miR-374a-3p	PAR-CLIP	22012620
MIRT529848	hsa-miR-548aa	PAR-CLIP	22012620
MIRT529847	hsa-miR-548ap-3p	PAR-CLIP	22012620
MIRT529846	hsa-miR-548t-3p	PAR-CLIP	22012620
MIRT529845	hsa-miR-32-3p	PAR-CLIP	22012620
MIRT529844	hsa-miR-570-3p	PAR-CLIP	22012620
MIRT529843	hsa-miR-374a-3p	PAR-CLIP	22012620
MIRT1373973	hsa-miR-3151	CLIP-seq
MIRT2111386	hsa-miR-4514	CLIP-seq
MIRT2111387	hsa-miR-4692	CLIP-seq
MIRT2111388	hsa-miR-4722-5p	CLIP-seq
MIRT2111389	hsa-miR-4768-3p	CLIP-seq
MIRT2111390	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	TAS	8707825
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005856	Component	Cytoskeleton	TAS	8707825
GO:0006939	Process	Smooth muscle contraction	TAS	8707825
GO:0007517	Process	Muscle organ development	TAS	8707825
GO:0008307	Function	Structural constituent of muscle	TAS	8707825
GO:0015629	Component	Actin cytoskeleton	TAS	8707825

Other IDs

• MIM: 602127
• HGNC: 11126
• e!Ensembl: ENSG00000183963

Protein

• UniProt ID: P53814
• Protein name: Smoothelin
• Protein function: Structural protein of the cytoskeleton.
• PDB: 2D87
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12510	Smoothelin	1 → 41	Smoothelin cytoskeleton protein	Family
  PF12510	Smoothelin	73 → 122	Smoothelin cytoskeleton protein	Family
  PF12510	Smoothelin	570 → 619	Smoothelin cytoskeleton protein	Family
  PF00307	CH	799 → 907	Calponin homology (CH) domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Smooth muscle; contractile or vascular (for the long form).
• Sequence:

  MADEALAGLDEGALRKLLEVTADLAERRRIRSAIRELQRQELEREEEALASKRFRAERQD
  NKENWLHSQQREAEQRAALARLAGQLESMNDVEELTALLRSAGEYEERKLIRAAIRRVRA
  QEIEAATLAGRLYSGRPNSGSREDSKGLAAHRLEQCEVPEREEQEQQAEVSKPTPTPEGT
  SQDVTTVTLLLRAPPGSTSSSPASPSSSPTPASPEPPLEPAEAQCLTAEVPGSPEPPPSP
  PKTTSPEPQESPTLPSTEGQVVNKLLSGPKETPAAQSPTRGPSDTKRADVAGPRPCQRSL
  SVLSPRQPAQNRESTPLASGPSSFQRAGSVRDRVHKFTSDSPMAARLQDGTPQAALSPLT
  PARLLGPSLTSTTPASSSSGSSSRGPSDTSSRFSKEQRGVAQPLAQLRSCPQEEGPRGRG
  LAARPLENRAGGPVARSEEPGAPLPVAVGTAEPGGSMKTTFTIEIKDGRGQASTGRVLLP
  TGNQRAELTLGLRAPPTLLSTSSGGKSTITRVNSPGTLARLGSVTHVTSFSHAPPSSRGG
  CSIKMEAEPAEPLAAAVEAANGAEQTRVNKAPEGRSPLSAEELMTIEDEGVLDKMLDQST
  DFEERKLIRAALRELRQRKRDQRDKERERRLQEARGRPGEGRGNTATETTTRHSQRAADG
  SAVSTVTKTERLVHSNDGTRTARTTTVESSFVRRSENGSGSTMMQTKTFSSSSSSKKMGS
  IFDREDQASPRAGSLAALEKRQAEKKKELMKAQSLPKTSASQARKAMIEKLEKEGAAGSP
  GGPRAAVQRSTSFGVPNANSIKQMLLDWCRAKTRGYEHVDIQNFSSSWSDGMAFCALVHN
  FFPEAFDYGQLSPQNRRQNFEVAFSSAEMLVDCVPLVEVDDMMIMGKKPDPKCVFTYVQS
  LYNHLRRHELRLRGKNV

• Sequence length: 917

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	29204253		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	22797469, 33858751, 39321955	Associate	★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations	Arteriovenous malformations	Pubtator	21472682	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	22448450	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37923090	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	28218359		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	23033319		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Constipation	Constipation	Pubtator	23060305	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	23121329		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	23121329	Associate	★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	29189258		★☆☆☆☆ Found in Text Mining only
GLOMUVENOUS MALFORMATIONS	Glomuvenous Malformation	BEFREE	27184662		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	23121329	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	23121329		★☆☆☆☆ Found in Text Mining only
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	BEFREE	29189258		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	21472682	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	21472682	Associate	★☆☆☆☆ Found in Text Mining only
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	29189258		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	24409061	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	22963604		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29189258, 29204253		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	27184662		★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	Pubtator	15505346	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	19252475, 28218359	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	29189258		★☆☆☆☆ Found in Text Mining only