SMTN (smoothelin)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6525
Gene name Gene Name - the full gene name approved by the HGNC.
Smoothelin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SMTN
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q12.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(18)
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(9)
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
602127 11126 ENSG00000183963
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Show/Hide Text Mining Associations (15)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Aortic Aneurysm Abdominal Associate 22797469, 33858751, 39321955
Arteriovenous Malformations Associate 21472682
Asthma Associate 22448450
Breast Neoplasms Associate 37923090
Constipation Associate 23060305
Dissection Thoracic Aorta Inhibit 22960022
Essential Hypertension Associate 23121329
Hypertension Associate 23121329
Idiopathic Noncirrhotic Portal Hypertension Associate 24409061
Leiomyoma Associate 21472682