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Aliases for SMTN Gene

Aliases for SMTN Gene

  • Smoothelin 2 3 3 5
  • SMSMO 4

External Ids for SMTN Gene

Previous GeneCards Identifiers for SMTN Gene

  • GC22P028173
  • GC22P029801
  • GC22P031460
  • GC22P014439

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 Atrophy Of Prostate and Retroperitoneum Carcinoma. GO annotations related to this gene include actin binding and structural constituent of muscle. An important paralog of this gene is SMTNL2.

UniProtKB/Swiss-Prot for SMTN Gene

  • Structural protein of the cytoskeleton.

Gene Wiki entry for SMTN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMTN Gene

Genomics for SMTN Gene

Regulatory Elements for SMTN Gene

Enhancers for SMTN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22F030944 0.5 ENCODE 11.2 -117.3 -117317 3.6 ELF3 SIN3A ZSCAN9 RAD21 ZNF335 GLIS2 RCOR1 EGR2 PAF1 ZNF654 MORC2-AS1 MORC2 TUG1 SMTN PES1 TCN2 ENSG00000223831 OSBP2 PIR35344
GH22F030605 1.1 FANTOM5 ENCODE 6.2 -456.0 -456035 5.5 PKNOX1 ARID4B SIN3A YY1 GLIS2 ZNF143 FOS ZNF263 SP5 JUNB TCN2 OSM SLC35E4 ENSG00000250318 SEC14L6 SMTN DUSP18 TBC1D10A CCDC157 SF3A1
GH22F031209 1.1 FANTOM5 ENCODE 5.2 +147.5 147510 4.3 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 LIMK2 RNF185 ENSG00000214125 PLA2G3 PIK3IP1 SMTN RNF185-AS1
GH22F030559 0.2 ENCODE 5.1 -503.9 -503891 1.4 BCOR CTCF PKNOX1 SAP130 ZNF740 PPARG RAD21 RARA PBX2 SMAD4 SEC14L6 SFI1 SMTN GAL3ST1
GH22F030434 0.7 Ensembl ENCODE 4.7 -628.6 -628614 2.3 SIN3A ZBTB40 ETS1 RARA EGR1 ETV6 FOS CREM THAP11 ZHX2 SEC14L3 SEC14L2 ENSG00000249590 GATSL3 SMTN GC22P030436 PIR31582
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SMTN on UCSC Golden Path with GeneCards custom track

Genomic Location for SMTN Gene

Chromosome:
22
Start:
31,064,105 bp from pter
End:
31,104,757 bp from pter
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
    SequenceCaution:
    • Sequence=AAL36149.1; Type=Frameshift; Positions=362, 384; Evidence={ECO:0000305}; Sequence=AAL36150.1; Type=Frameshift; Positions=362, 384; Evidence={ECO:0000305}; Sequence=CAA73884.2; Type=Frameshift; Positions=362, 384; 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

Antibody Products

No data available for DME Specific Peptides for SMTN Gene

Domains & Families for SMTN Gene

Protein Domains for SMTN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SMTN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P53814

UniProtKB/Swiss-Prot:

SMTN_HUMAN :
  • Contains 1 CH (calponin-homology) domain.
  • Belongs to the smoothelin family.
Domain:
  • Contains 1 CH (calponin-homology) domain.
Family:
  • Belongs to the smoothelin family.
genes like me logo Genes that share domains with SMTN: view

No data available for Gene Families for SMTN Gene

Function for SMTN Gene

Molecular function for SMTN Gene

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

Gene Ontology (GO) - Molecular Function for SMTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding TAS 8707825
GO:0008307 structural constituent of muscle TAS 8707825
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

Clone Products

Flow Cytometry 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
Jensen Localization Image for SMTN Gene COMPARTMENTS Subcellular localization image for SMTN gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 3
extracellular 1

Gene Ontology (GO) - Cellular Components for SMTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton TAS 8707825
GO:0015629 actin cytoskeleton IDA --
genes like me logo Genes that share ontologies with SMTN: view

Pathways & Interactions for SMTN Gene

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
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

Unigene Clusters for SMTN Gene

Smoothelin:
Representative Sequences:

Clone Products

Flow Cytometry 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
ECgene alternative splicing isoforms for
SMTN

Expression for SMTN Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for SMTN Gene



Protein tissue co-expression partners for SMTN Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SMTN Gene:

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).
genes like me logo Genes that share expression patterns with SMTN: view

Primer Products

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 34 35
  • 98.66 (n)
dog
(Canis familiaris)
Mammalia SMTN 34 35
  • 89.18 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SMTN 35
  • 87 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SMTN 34 35
  • 85.28 (n)
mouse
(Mus musculus)
Mammalia Smtn 34 16 35
  • 82.79 (n)
rat
(Rattus norvegicus)
Mammalia Smtn 34
  • 81.91 (n)
chicken
(Gallus gallus)
Aves SMTN 35
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMTN 35
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smtn 34
  • 64.75 (n)
Str.1497 34
African clawed frog
(Xenopus laevis)
Amphibia MGC68765 34
zebrafish
(Danio rerio)
Actinopterygii smtnb 35
  • 54 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T15B12.1 36 35
  • 48 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10261 35
  • 54 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9420 34
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)

Paralogs for SMTN Gene

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

Variants for SMTN Gene

Sequence variations from dbSNP and Humsavar for SMTN Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs777851029 A colorectal cancer sample 31,096,781(+) GGGCC(A/C/G)GCCAG intron-variant, downstream-variant-500B, reference, missense, utr-variant-3-prime
VAR_035658 A colorectal cancer sample
rs1004243 -- 31,101,893(+) TTCCT(C/T)GGATG intron-variant
rs1008519 -- 31,095,677(-) GGACC(C/T)CAGAG intron-variant
rs10304 -- 31,104,550(+) CCACC(A/G)CTGCC downstream-variant-500B, utr-variant-3-prime

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)

Relevant External Links for SMTN Gene

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

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

Disorders for SMTN Gene

MalaCards: The human disease database

(2) MalaCards diseases for SMTN Gene - From: DISEASES

Disorder Aliases PubMed IDs
atrophy of prostate
retroperitoneum carcinoma
  • carcinoma of retroperitoneum
- elite association - COSMIC cancer census association via MalaCards
Search SMTN in MalaCards View complete list of genes associated with diseases

Relevant External Links for SMTN

Genetic Association Database (GAD)
SMTN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 F.T.L. … van Eys G.J.J.M. (J. Cell Biol. 1996) 2 3 4 22 64
  2. Expression of the smoothelin gene is mediated by alternative promoters. (PMID: 12176134) Rensen S.S. … Van Eys G.J.J.M. (Cardiovasc. Res. 2002) 3 4 22 64
  3. Identification and characterization of novel smoothelin isoforms in vascular smooth muscle. (PMID: 11316948) Kraemer J. … Leonhardt H. (J. Vasc. Res. 2001) 3 4 22 64
  4. Assignment of the human gene for smoothelin (SMTN) to chromosome 22q12 by fluorescence in situ hybridization and radiation hybrid mapping. (PMID: 9244445) Engelen J.J. … van Eys G.J. (Genomics 1997) 2 3 22 64
  5. Pitfalls in the use of smoothelin to identify muscularis propria invasion by urothelial carcinoma. (PMID: 20154589) Miyamoto H. … Epstein J.I. (Am. J. Surg. Pathol. 2010) 3 22 64

Products for SMTN Gene

Sources for SMTN Gene

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