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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. 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

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
GH22H031077 1.6 Ensembl ENCODE dbSUPER 21.3 +18.8 18793 10 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 TUG1 MORC2 SELENOM SMTN SF3A1 INPP5J TBC1D10A PRR14L PES1 DEPDC5
GH22H030967 1.1 ENCODE 21.1 -94.9 -94864 3 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 ZNF143 TUG1 SF3A1 SMTN MORC2 PES1 PRR14L DEPDC5 OSBP2 ENSG00000276664
GH22H030605 1.4 FANTOM5 ENCODE 6.2 -456.0 -456035 5 PKNOX1 FOXA2 ARID4B SIN3A YY1 ZNF766 GLIS2 ZNF143 FOS ATF7 TCN2 TUG1 MORC2 PES1 OSM SLC35E4 ENSG00000250318 SEC14L6 SMTN DUSP18
GH22H031209 1.6 FANTOM5 ENCODE dbSUPER 5.2 +147.5 147510 4 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 LIMK2 RNF185 ENSG00000214125 PLA2G3 PIK3IP1 SMTN RNF185-AS1
GH22H030944 0.7 ENCODE 11.2 -117.3 -117317 3 CTCF ZNF654 TRIM22 REST RAD21 ZFP69B GATA3 SMC3 MLLT1 PRDM1 MORC2-AS1 MORC2 TUG1 SMTN PES1 TCN2 ENSG00000223831 OSBP2 PIR35344
- Elite enhancer and/or Elite enhancer-gene association 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

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:

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:

Animal Model Products

CRISPR 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
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:

CRISPR 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

Primer Products

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 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
rs1000082660 -- 31,094,992(+) TTCCC(C/T)TCTGT intron-variant
rs1000222471 -- 31,086,264(+) AGAGC(C/T)ATCTT intron-variant
rs1000382273 -- 31,092,104(+) ATCTC(C/T)GATCC 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
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

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

Disorder Aliases PubMed IDs
glomuvenous malformations
  • glomuvenous malformation
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 FT … van Eys GJ (The Journal of cell biology 1996) 2 3 4 22 60
  2. Expression of the smoothelin gene is mediated by alternative promoters. (PMID: 12176134) Rensen SS … Van Eys GJ (Cardiovascular research 2002) 3 4 22 60
  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 60
  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 60
  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 60

Products for SMTN Gene

Sources for SMTN Gene

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