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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 Glomuvenous Malformations and Atrophy Of Prostate. Gene Ontology (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

Additional gene information for SMTN Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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
GH22I031077 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 550.4 +18.8 18792 10.3 HDGF PKNOX1 SMAD1 FOXA2 MLX ARID4B SIN3A DMAP1 ZBTB7B YY1 ENSG00000273387 SMTN TUG1 MORC2 SELENOM SF3A1 INPP5J TBC1D10A PRR14L PES1
GH22I031090 Promoter/Enhancer 1.2 EPDnew ENCODE dbSUPER 550.3 +28.6 28585 4.4 ZFHX2 GLIS2 GLIS1 SCRT2 SP2 EGR2 SMTN SELENOM OSM SFI1 ENSG00000273387 INPP5J
GH22I031062 Enhancer 0.9 ENCODE 550.8 -0.2 -165 1.9 FOXA2 ARID4B DMAP1 ZNF2 YY1 POLR2B FOS ATF7 YY2 NCOA1 SMTN SELENOM MORC2 INPP5J TUG1 PES1 TCN2 ENSG00000223831 RN7SL633P ENSG00000278920
GH22I030605 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 6.2 -456.0 -456034 5.5 PKNOX1 FOXA2 ARID4B SIN3A YY1 ZNF766 ZNF143 FOS SP5 JUNB TCN2 PES1 TUG1 MORC2 OSM SLC35E4 ENSG00000250318 SEC14L6 SMTN DUSP18
GH22I031209 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.2 +147.5 147510 4.3 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 LIMK2 RNF185 SF3A1 TUG1 ENSG00000214125 PLA2G3 PRR14L MORC2 TBC1D10A PIK3IP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SMTN on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SMTN gene promoter:

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)

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

No Post-translational modifications

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

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 :
  • 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

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.

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: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:

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 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Actin filaments (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SMTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
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

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: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

Unigene Clusters for SMTN Gene

Smoothelin:
Representative Sequences:

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
ECgene alternative splicing isoforms for
SMTN

Expression for SMTN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, 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).

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 33 34
  • 98.66 (n)
dog
(Canis familiaris)
Mammalia SMTN 33 34
  • 89.18 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SMTN 34
  • 87 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SMTN 33 34
  • 85.28 (n)
mouse
(Mus musculus)
Mammalia Smtn 33 16 34
  • 82.79 (n)
rat
(Rattus norvegicus)
Mammalia Smtn 33
  • 81.91 (n)
chicken
(Gallus gallus)
Aves SMTN 34
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMTN 34
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smtn 33
  • 64.75 (n)
Str.1497 33
African clawed frog
(Xenopus laevis)
Amphibia MGC68765 33
zebrafish
(Danio rerio)
Actinopterygii smtnb 34
  • 54 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T15B12.1 35 34
  • 48 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10261 34
  • 54 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9420 33
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 Variation AA Info Type
rs777851029 A colorectal cancer sample 31,096,781(+) G/A/C 3_prime_UTR_variant, coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant, missense_variant
VAR_035658 A colorectal cancer sample p.Ala763Val
rs1000082660 -- 31,094,992(+) T/C intron_variant
rs1000222471 -- 31,086,264(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000382273 -- 31,092,104(+) T/C intron_variant

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
nsv9896 CNV gain 18304495
nsv953069 CNV deletion 24416366

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

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

Disorders for SMTN Gene

MalaCards: The human disease database

(6) MalaCards diseases for SMTN Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
glomuvenous malformations
  • gvm
atrophy of prostate
endometriosis of uterus
  • adenomyosis
retroperitoneum carcinoma
  • carcinoma of retroperitoneum
bizarre leiomyoma
  • atypical leiomyoma
- 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 22 58
  2. Expression of the smoothelin gene is mediated by alternative promoters. (PMID: 12176134) Rensen SS … Van Eys GJ (Cardiovascular research 2002) 3 4 22 58
  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 22 58
  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 22 58
  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 22 58

Products for SMTN Gene

Sources for SMTN Gene

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