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 dist... See more...

Aliases for SMTN Gene

Aliases for SMTN Gene

  • Smoothelin 2 3 4 5
  • SMSMO 4

External Ids for SMTN Gene

Previous GeneCards Identifiers for SMTN Gene

  • GC22P028173
  • GC22P029801
  • GC22P031460
  • GC22P014439
  • GC22P031065

Summaries for SMTN Gene

Entrez Gene Summary for SMTN 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 outside the DiGeorge syndrome deletion. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2011]

GeneCards Summary for SMTN Gene

SMTN (Smoothelin) is a Protein Coding gene. Diseases associated with SMTN include Glomuvenous Malformations and Atrophy Of Prostate. Gene Ontology (GO) annotations related to this gene include actin binding and structural constituent of muscle.

UniProtKB/Swiss-Prot Summary for SMTN Gene

Gene Wiki entry for SMTN Gene

Additional gene information for SMTN Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SMTN Gene

Genomics for SMTN Gene

GeneHancer (GH) Regulatory Elements for SMTN Gene

Promoters and enhancers for SMTN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J031077 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.4 +18.8 18792 10.3 HNRNPK CTCF SIN3A NRF1 POLR2G SP1 NCOR1 GTF2E2 PHF8 TEAD4 ENSG00000273387 SMTN TUG1 MORC2 SELENOM SF3A1 INPP5J TBC1D10A PRR14L PES1
GH22J031090 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 500.3 +28.6 28585 4.4 SP2 POLR2G ZFHX2 GLIS1 EGR2 GLIS2 RBFOX2 SCRT2 SMTN SELENOM OSM SFI1 ENSG00000273387 lnc-PLA2G3-3 RF00017-3804
GH22J031062 Promoter/Enhancer 1.2 Ensembl ENCODE 500.7 0.0 -12 2.2 POLR2G USF1 REST USF2 MYC TGIF2 NFRKB TAF9B NFYB RBM25 SMTN SELENOM MORC2 INPP5J TUG1 PES1 TCN2 ENSG00000223831 piR-57460-449 ENSG00000278920
GH22J030605 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 6.2 -456.0 -456034 5.5 CTCF USF1 JUND TEAD4 FOS ZIC2 REST SAP30 RELA USF2 TCN2 PES1 lnc-GAL3ST1-1 OSM SLC35E4 ENSG00000250318 SEC14L6 SMTN DUSP18 TBC1D10A
GH22J030537 Enhancer 0.7 Ensembl 20 -526.5 -526504 0.8 ZBTB11 HINFP RELA ZNF592 GTF2A2 PBX2 KLF13 ZNF644 IRF1 ZNF395 SMTN SEC14L6 THOC5 SIRPAP1 RF00017-3801
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SMTN on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SMTN

Top Transcription factor binding sites by QIAGEN in the SMTN gene promoter:
  • SRF
  • SRF (504 AA)

Genomic Locations for SMTN Gene

Genomic Locations for SMTN Gene
chr22:31,064,105-31,104,757
(GRCh38/hg38)
Size:
40,653 bases
Orientation:
Plus strand
chr22:31,460,091-31,500,743
(GRCh37/hg19)
Size:
40,653 bases
Orientation:
Plus strand

Genomic View for SMTN Gene

Genes around SMTN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMTN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMTN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMTN Gene

Proteins for SMTN Gene

  • Protein details for SMTN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P53814-SMTN_HUMAN
    Recommended name:
    Smoothelin
    Protein Accession:
    P53814
    Secondary Accessions:
    • O00569
    • O95769
    • O95937
    • Q8N4H8
    • Q8WWW1
    • Q8WWW2
    • Q9P1S8
    • Q9UIT1
    • Q9UIT2

    Protein attributes for SMTN Gene

    Size:
    917 amino acids
    Molecular mass:
    99059 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • [Isoform A]: Produced by alternative promoter usage.
    SequenceCaution:
    • Sequence=AAL36149.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAL36150.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=CAA73884.2; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SMTN Gene

    Alternative splice isoforms for SMTN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMTN Gene

Post-translational modifications for SMTN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SMTN Gene

Domains & Families for SMTN Gene

Gene Families for SMTN Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SMTN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SMTN Gene

GenScript: Design optimal peptide antigens:
  • Smoothelin (SMTN_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P53814

UniProtKB/Swiss-Prot:

SMTN_HUMAN :
  • Belongs to the smoothelin family.
Family:
  • Belongs to the smoothelin family.
genes like me logo Genes that share domains with SMTN: view

Function for SMTN Gene

Molecular function for SMTN Gene

UniProtKB/Swiss-Prot Function:
Structural protein of the cytoskeleton.
GENATLAS Biochemistry:
smoothelin,protein,59kDa,expressed in contractile smooth muscle cells (short isoform) and in all vascularized organs (long isoform)

Phenotypes From GWAS Catalog for SMTN Gene

Gene Ontology (GO) - Molecular Function for SMTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding TAS 8707825
GO:0005515 protein binding IEA --
GO:0008307 structural constituent of muscle TAS 8707825
GO:0017137 Rab GTPase binding IEA --
genes like me logo Genes that share ontologies with SMTN: view
genes like me logo Genes that share phenotypes with SMTN: view

Animal Models for SMTN Gene

MGI Knock Outs for SMTN:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMTN

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SMTN Gene

Localization for SMTN Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMTN Gene

Cytoplasm, cytoskeleton. Note=Exhibits a filamentous organization.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SMTN gene
Compartment Confidence
cytoskeleton 5
nucleus 4
cytosol 3
extracellular 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SMTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IBA 21873635
GO:0005856 cytoskeleton TAS 8707825
GO:0015629 actin cytoskeleton TAS 8707825
genes like me logo Genes that share ontologies with SMTN: view

Pathways & Interactions for SMTN Gene

PathCards logo

SuperPathways for SMTN Gene

No Data Available

Gene Ontology (GO) - Biological Process for SMTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006939 smooth muscle contraction TAS 8707825
GO:0007517 muscle organ development TAS 8707825
GO:0030036 actin cytoskeleton organization IBA 21873635
GO:0032456 endocytic recycling IEA --
GO:0060452 positive regulation of cardiac muscle contraction IEA --
genes like me logo Genes that share ontologies with SMTN: view

No data available for Pathways by source and SIGNOR curated interactions for SMTN Gene

Drugs & Compounds for SMTN Gene

(1) Drugs for SMTN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SMTN: view

Transcripts for SMTN Gene

mRNA/cDNA for SMTN Gene

5 REFSEQ mRNAs :
26 NCBI additional mRNA sequence :
24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMTN

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMTN Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18a · 18b · 18c ·
SP1: - - - - -
SP2:
SP3: - - - -
SP4:
SP5: - - - -
SP6: - - -
SP7: - -
SP8: - - - -
SP9:
SP10: - - - -
SP11: -
SP12: - - - -
SP13:
SP14:
SP15: - - - -
SP16: - - - - -
SP17:

ExUns: 18d ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b ^ 25a · 25b ^ 26 ^ 27a · 27b
SP1: - - - - -
SP2: - - -
SP3: - - - - - -
SP4: - - - - - - - -
SP5: - - - - - -
SP6: - - - - - -
SP7:
SP8: - -
SP9: -
SP10:
SP11:
SP12: -
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for SMTN Gene

GeneLoc Exon Structure for
SMTN

Expression for SMTN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SMTN Gene

mRNA differential expression in normal tissues according to GTEx for SMTN Gene

This gene is overexpressed in Esophagus - Gastroesophageal Junction (x6.2), Colon - Sigmoid (x6.0), Esophagus - Muscularis (x5.9), and Artery - Tibial (x4.4).

Protein differential expression in normal tissues from HIPED for SMTN Gene

This gene is overexpressed in Colon muscle (15.8), Urinary Bladder (14.1), Colon (11.6), and Rectum (11.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SMTN Gene



Protein tissue co-expression partners for SMTN Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SMTN

SOURCE GeneReport for Unigene cluster for SMTN Gene:

Hs.149098

mRNA Expression by UniProt/SwissProt for SMTN Gene:

P53814-SMTN_HUMAN
Tissue specificity: Smooth muscle; contractile or vascular (for the long form).

Evidence on tissue expression from TISSUES for SMTN Gene

  • Intestine(4.8)
  • Muscle(4.7)
  • Nervous system(4.5)
  • Heart(3.2)
  • Skin(3.1)
  • Kidney(2.7)
  • Stomach(2.5)
genes like me logo Genes that share expression patterns with SMTN: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SMTN Gene

Orthologs for SMTN Gene

This gene was present in the common ancestor of animals.

Orthologs for SMTN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMTN 31 30
  • 98.66 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SMTN 31 30
  • 89.18 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMTN 31
  • 87 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SMTN 31 30
  • 85.28 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Smtn 17 31 30
  • 82.79 (n)
rat
(Rattus norvegicus)
Mammalia Smtn 30
  • 81.91 (n)
chicken
(Gallus gallus)
Aves SMTN 31
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMTN 31
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smtn 30
  • 64.75 (n)
Str.1497 30
African clawed frog
(Xenopus laevis)
Amphibia MGC68765 30
zebrafish
(Danio rerio)
Actinopterygii smtnb 31
  • 54 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T15B12.1 31 32
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10261 31
  • 54 (a)
ManyToMany
Cin.9420 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9420 30
Species where no ortholog for SMTN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SMTN Gene

ENSEMBL:
Gene Tree for SMTN (if available)
TreeFam:
Gene Tree for SMTN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SMTN: view image

Paralogs for SMTN Gene

(3) SIMAP similar genes for SMTN Gene using alignment to 10 proteins:

  • SMTN_HUMAN
  • B5MCI0_HUMAN
  • C9JBH9_HUMAN
  • C9JGQ0_HUMAN
  • C9JP19_HUMAN
  • C9JQZ8_HUMAN
  • C9JV14_HUMAN
  • C9JYU8_HUMAN
  • H7BZZ8_HUMAN
  • H7C372_HUMAN
genes like me logo Genes that share paralogs with SMTN: view

No data available for Paralogs for SMTN Gene

Variants for SMTN Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SMTN Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
712286 Benign: not provided 31,089,937(+) C/T MISSENSE_VARIANT
721065 Benign: not provided 31,091,747(+) G/A MISSENSE_VARIANT
752255 Likely Benign: not provided 31,091,286(+) G/A SYNONYMOUS_VARIANT
784418 Benign: not provided 31,082,956(+) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
790897 Benign: not provided 31,090,868(+) C/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SMTN Gene

Structural Variations from Database of Genomic Variants (DGV) for SMTN Gene

Variant ID Type Subtype PubMed ID
esv29436 CNV loss 19812545
nsv1110864 OTHER inversion 24896259
nsv524366 CNV loss 19592680
nsv829173 CNV loss 20364138
nsv953069 CNV deletion 24416366
nsv9896 CNV gain 18304495

Variation tolerance for SMTN Gene

Residual Variation Intolerance Score: 84.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.60; 94.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SMTN Gene

Human Gene Mutation Database (HGMD)
SMTN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMTN

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMTN Gene

Disorders for SMTN Gene

MalaCards: The human disease database

(9) MalaCards diseases for SMTN Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search SMTN in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SMTN

genes like me logo Genes that share disorders with SMTN: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SMTN Gene

Publications for SMTN Gene

  1. Smoothelin, a novel cytoskeletal protein specific for smooth muscle cells. (PMID: 8707825) van der Loop FT … van Eys GJ (The Journal of cell biology 1996) 2 3 4 23 54
  2. Expression of the smoothelin gene is mediated by alternative promoters. (PMID: 12176134) Rensen SS … Van Eys GJ (Cardiovascular research 2002) 3 4 23 54
  3. Identification and characterization of novel smoothelin isoforms in vascular smooth muscle. (PMID: 11316948) Krämer J … Leonhardt H (Journal of vascular research 2001) 3 4 23 54
  4. Assignment of the human gene for smoothelin (SMTN) to chromosome 22q12 by fluorescence in situ hybridization and radiation hybrid mapping. (PMID: 9244445) Engelen JJ … van Eys GJ (Genomics 1997) 2 3 23 54
  5. Pitfalls in the use of smoothelin to identify muscularis propria invasion by urothelial carcinoma. (PMID: 20154589) Miyamoto H … Epstein JI (The American journal of surgical pathology 2010) 3 23 54

Products for SMTN Gene

Sources for SMTN Gene