Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SMTN Gene

protein-coding   GIFtS: 57
GCID: GC22P031460

Smoothelin

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
smoothelin1 2
SMSMO3

External Ids:    HGNC: 111261   Entrez Gene: 65252   Ensembl: ENSG000001839637   OMIM: 6021275   UniProtKB: P538143   

Export aliases for SMTN gene to outside databases

Previous GC identifers: GC22P028173 GC22P029801 GC22P014439


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 vascular malformations, and glomus tumor. GO annotations related to this gene include structural constituent of muscle and actin binding. An important paralog of this gene is MICALL2.

UniProtKB/Swiss-Prot: SMTN_HUMAN, P53814
Function: Structural protein of the cytoskeleton

Gene Wiki entry for SMTN Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NT_011520.12  NC_018933.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SMTN gene promoter:
         SRF   SRF (504 AA)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSMTN promoter sequence
   Search SABiosciences Chromatin IP Primers for SMTN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMTN


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q12.2   Ensembl cytogenetic band:  22q12.2   HGNC cytogenetic band: 22q12

SMTN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMTN gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P031460:  view genomic region     (about GC identifiers)

Start:
31,460,091 bp from pter      End:
31,500,610 bp from pter
Size:
40,520 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SMTN_HUMAN, P53814 (See protein sequence)
Recommended Name: Smoothelin  
Size: 917 amino acids; 99059 Da
Subcellular location: Cytoplasm, cytoskeleton. Note=Exhibits a filamentous organization
Sequence caution: Sequence=AAL36149.1; Type=Frameshift; Positions=362, 384; Sequence=AAL36150.1; Type=Frameshift;
Positions=362, 384; Sequence=CAA73884.2; Type=Frameshift; Positions=362, 384;
1 PDB 3D structure from and Proteopedia for SMTN:
2D87 (3D)    
Secondary accessions: O00569 O95769 O95937 Q8N4H8 Q8WWW1 Q8WWW2 Q9P1S8 Q9UIT1 Q9UIT2
Alternative promoter usage, Alternative splicing: 4 isoforms:  P53814-1   P53814-2   P53814-5   P53814-6   (Contains a phosphothreonine at position 373)

Explore the universe of human proteins at neXtProt for SMTN: NX_P53814

Explore proteomics data for SMTN at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P53814

  • SMTN Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SMTN Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001193946.1  NP_001193947.1  NP_008863.3  NP_599031.1  NP_599032.2  

    ENSEMBL proteins: 
     ENSP00000398663   ENSP00000390453   ENSP00000399432   ENSP00000401341   ENSP00000351593  
     ENSP00000328635   ENSP00000329532   ENSP00000409925   ENSP00000409990   ENSP00000394637  
     ENSP00000392329   ENSP00000383919  

    Human Recombinant Protein Products for SMTN: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for SMTN
    OriGene Protein Over-expression Lysate for SMTN
    OriGene MassSpec for SMTN 
    OriGene Custom Protein Services for SMTN
    GenScript Custom Purified and Recombinant Proteins Services for SMTN
    Novus Biologicals SMTN Protein
    Novus Biologicals SMTN Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SMTN 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton TAS8707825
    GO:0015629actin cytoskeleton TAS8707825

    SMTN for ontologies           About GeneDecksing



    SMTN Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of SMTN
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for SMTN
    GenScript Custom Superior Antibodies Services for SMTN
    Novus Biologicals SMTN Antibodies
    Abcam antibodies for SMTN
    Cloud-Clone Corp. Antibodies for SMTN 
    ThermoFisher Antibodies for SMTN
    LSBio Antibodies in human, mouse, rat for SMTN 

    Assay Products for SMTN: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SMTN
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SMTN
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SMTN 
    Cloud-Clone Corp. CLIAs for SMTN


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR001715 CH-domain
     IPR022189 Smoothelin

    Graphical View of Domain Structure for InterPro Entry P53814

    ProtoNet protein and cluster: P53814

    UniProtKB/Swiss-Prot: SMTN_HUMAN, P53814
    Similarity: Belongs to the smoothelin family
    Similarity: Contains 1 CH (calponin-homology) domain


    SMTN for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SMTN_HUMAN, P53814
    Function: Structural protein of the cytoskeleton

         Genatlas biochemistry entry for SMTN:
    smoothelin,protein,59kDa,expressed in contractile smooth muscle cells (short isoform) and in all vascularized
    organs (long isoform)

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding TAS8707825
    GO:0005515protein binding ----
    GO:0008307structural constituent of muscle TAS8707825
         
    SMTN for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SMTN:
     Increased gamma-H2AX phosphory 

         10 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Smtn):
     adipose tissue  cardiovascular system  digestive/alimentary  growth/size  immune system 
     integument  mortality/aging  muscle  normal  reproductive system 

    SMTN for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SMTN: Smtntm1Gve Smtntm2Gve

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SMTN 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SMTN

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SMTN 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SMTN 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SMTN
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate SMTN:
    hsa-miR-374a* hsa-miR-32*
    SwitchGear 3'UTR luciferase reporter plasmidSMTN 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SMTN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SMTN

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SMTN
    Sirion Biotech Customized adenovirus for overexpression of SMTN

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for SMTN (see all 15)
    OriGene ORF clones in mouse, rat for SMTN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): SMTN (NM_134269)
    Sino Biological Human cDNA Clone for SMTN
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SMTN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMTN
    Sirion Biotech Customized lentivirus for stable overexpression of SMTN 
                         Customized lentivirus expression plasmids for stable overexpression of SMTN 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SMTN
    Search LifeMap BioReagents cell lines for SMTN
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMTN


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SMTN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/11 Interacting proteins for SMTN (P538143 ENSP000003515934) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTA1P681333, ENSP000003556454I2D: score=1 STRING: ENSP00000355645
    BRMS1Q9HCU93, ENSP000003960524I2D: score=1 STRING: ENSP00000396052
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    PTENP604843, ENSP000003610214I2D: score=1 STRING: ENSP00000361021
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006939smooth muscle contraction TAS8707825
    GO:0007517muscle organ development TAS8707825

    SMTN for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SMTN for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SMTN

    1 Novoseek inferred chemical compound relationship for SMTN gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dihydrotestosterone 47.5 1 12390831 (1)

    Search CenterWatch for drugs/clinical trials and news about SMTN

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SMTN gene (5 alternative transcripts): 
    NM_001207017.1  NM_001207018.1  NM_006932.4  NM_134269.2  NM_134270.2  

    Unigene Cluster for SMTN:

    Smoothelin
    Hs.149098  [show with all ESTs]
    Unigene Representative Sequence: AK128627
    18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000432777 ENST00000422839 ENST00000426927 ENST00000482444 ENST00000440425
    ENST00000475548 ENST00000497697 ENST00000358743 ENST00000347557(uc003ajl.2 uc011ale.2)
    ENST00000333137(uc003ajk.2 uc003ajm.2 uc011alf.2 uc003ajn.2 uc011alg.2)
    ENST00000489337 ENST00000438223 ENST00000416786 ENST00000431481 ENST00000460658
    ENST00000466272 ENST00000455608 ENST00000404574(uc003ajo.2 uc010gwe.2)

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SMTN
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate SMTN:
    hsa-miR-374a* hsa-miR-32*
    SwitchGear 3'UTR luciferase reporter plasmidSMTN 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SMTN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SMTN
    Clone
    Products:
         
    OriGene clones in human, mouse for SMTN (see all 15)
    OriGene ORF clones in mouse, rat for SMTN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): SMTN (NM_134269)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SMTN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMTN
    Sirion Biotech Customized lentivirus for stable overexpression of SMTN 
                         Customized lentivirus expression plasmids for stable overexpression of SMTN 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SMTN
    OriGene qSTAR qPCR primer pairs in human, mouse for SMTN
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SMTN
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SMTN
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SMTN

    Additional mRNA sequence: 

    AF064238.3 AJ010306.2 AK092487.1 AK092684.1 AK095916.1 AK128627.1 AK225648.1 AK295418.1 
    AK300854.1 AK301289.1 AK303424.1 AK304084.1 AK309502.1 AY061971.1 AY061972.1 BC034237.2 
    Y13492.2 Z49989.2 

    24/27 DOTS entries (see all 27):

    DT.95162077  DT.95162088  DT.100759024  DT.92429900  DT.100809882  DT.97854845  DT.100809887  DT.92429897 
    DT.100742784  DT.100030496  DT.316318  DT.86847413  DT.40232503  DT.100809889  DT.120660646  DT.97812642 
    DT.92001518  DT.120660586  DT.120660636  DT.75122251  DT.91747306  DT.100661455  DT.120660639  DT.91966993 

    24/369 AceView cDNA sequences (see all 369):

    CO246577 AL703054 H55267 BM741881 CO247405 BM687588 CB044038 BM555026 
    BM554899 BQ685833 BQ069275 BQ717212 H39017 BM756831 BX109137 T96497 
    BG253059 CB269964 BM051716 BU526709 NM_134269 BM464372 BM850665 BM796188 

    GeneLoc Exon Structure

    5/17 Alternative Splicing Database (ASD) splice patterns (SP) for SMTN (see all 17)    About this scheme

    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:                                                                                                              -     -     -     -                           

    ExUns: 18d ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b ^ 25a · 25b ^ 26 ^ 27a · 27b
    SP1:  -     -                       -                       -     -                           
    SP2:  -                                                     -     -                           
    SP3:  -     -                       -                       -     -           -               
    SP4:  -     -     -     -     -     -                       -     -                           
    SP5:  -     -     -     -     -     -                                                         


    ECgene alternative splicing isoforms for SMTN

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SMTN expression in normal human tissues (normalized intensities)      SMTN embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCAGCCAGT
    SMTN Expression
    About this image


    SMTN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/8 selected tissues (see all 8) fully expand
     
     Smooth Muscle (Muscoskeletal System)    fully expand to see all 4 entries
             Vascular Smooth Muscle Cells Splanchnic Mesoderm
             Smooth muscle-like cells ( Generation of endothelial progenitor cells and smooth...
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
             Hindgut
     
     Colon (Gastrointestinal Tract)
             rectum   
     
     Heart (Cardiovascular System)
             Vascular Smooth Muscle Cells Aortic Arch Arteries
     
     Endothelium (Cardiovascular System)
             Vascular Smooth Muscle Cells Veins

    See SMTN Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SMTN

    SOURCE GeneReport for Unigene cluster: Hs.149098

    UniProtKB/Swiss-Prot: SMTN_HUMAN, P53814
    Tissue specificity: Smooth muscle; contractile or vascular (for the long form)

        SABiosciences Expression via Pathway-Focused PCR Arrays including SMTN: 
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SMTN
    OriGene qSTAR qPCR primer pairs in human, mouse for SMTN
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SMTN
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SMTN
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SMTN
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMTN

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SMTN gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smtn1 , 5 smoothelin1, 5 81.69(n)1
    79.8(a)1
      11 (2.47 cM)5
    298561  NM_001159284.11  NP_001152756.11 
     35175235 
    chicken
    (Gallus gallus)
    Aves LOC1008588941 smoothelin-like 64.41(n)
    59.15(a)
      100858894  XM_003642227.1  XP_003642275.1 
    lizard
    (Anolis carolinensis)
    Reptilia SMTN6
    Uncharacterized protein
    45(a)
    1 ↔ 1
    GL343417.1(352160-380330)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC687652 hypothetical protein MGC68765 78.07(n)    BC061686.1 
    zebrafish
    (Danio rerio)
    Actinopterygii smtnb1 smoothelin b 62.3(n)
    55.61(a)
      664685  XM_002662194.1  XP_002662240.1 
    worm
    (Caenorhabditis elegans)
    Secernentea T15B12.13   -- 48(a)   III(5366440-5369612)   --


    ENSEMBL Gene Tree for SMTN (if available)
    TreeFam Gene Tree for SMTN (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SMTN gene
    MICALL22  MICAL22  EHBP12  MICAL32  SPECC12  SMTNL22  MICALL12  MICALCL2  
    MICAL12  EHBP1L12  SPECC1L2  ENSG000002585552  SMTNL12  
    3 SIMAP similar genes for SMTN using alignment to 10 protein entries:     SMTN_HUMAN (see all proteins):
    DMD    SMTNL1    SMTNL2

    SMTN for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/642 SNPs in SMTN are shown (see all 642)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0356584
    A colorectal cancer sample4--see VAR_0356582 A V mis40--------
    VAR_0356574
    A colorectal cancer sample4--see VAR_0356572 R Q mis40--------
    rs2006772721,2
    C--14456379(+) ACAAGA/CCCCCC 5 -- int10--------
    rs57534541,2
    C,F,A,H--15397771(+) ACCCAG/AGCACT 3 -- us2k116Minor allele frequency- A:0.25NS EA NA 2210
    rs775164521,2
    C,F--15397776(+) GGCACT/AAAGGG 3 -- us2k13Minor allele frequency- A:0.08CSA WA NA 240
    rs1856791171,2
    --15397904(+) GTAGGA/GCAGGG 3 -- us2k10--------
    rs1168941491,2
    C,F--15397905(+) TAGGGC/TAGGGA 3 -- us2k11Minor allele frequency- T:0.05NA 120
    rs1418108671,2
    --15397998(+) CCTAGG/TTGTGC 3 -- us2k10--------
    rs758024561,2
    C,F--15398015(+) TGAAGG/AGGAGG 3 -- us2k11Minor allele frequency- A:0.05NA 120
    rs781146631,2
    F--15398035(+) ACGCGT/CGAATT 3 -- us2k11Minor allele frequency- C:0.04WA 118

    HapMap Linkage Disequilibrium report for SMTN (31460091 - 31500610 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SMTN:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv29436CNV Loss19812545
    nsv524366CNV Loss19592680
    dgv4956n71CNV Loss21882294
    nsv829173CNV Loss20364138
    nsv914976CNV Loss21882294
    nsv9896CNV Gain18304495

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SMTN
    DNA2.0 Custom Variant and Variant Library Synthesis for SMTN

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602127    OMIM disorders: --

    18 diseases for SMTN:    About MalaCards
    vascular malformations    glomus tumor    digeorge syndrome    intestinal pseudo-obstruction
    cavernous malformation    cerebral cavernous malformation    barrett's esophagus    bladder carcinoma
    choroiditis    cerebritis    hepatitis c    ischemia
    hypertension    hepatocellular carcinoma    hepatitis    endotheliitis
    prostatitis    breast cancer

    1 disease from the University of Copenhagen DISEASES database for SMTN:
    Intestinal pseudo-obstruction

    SMTN for disorders           About GeneDecksing

    Genetic Association Database (GAD): SMTN

    Export disorders for SMTN gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SMTN gene, integrated from 9 sources (see all 89):
    (articles sorted by number of sources associating them with SMTN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Smoothelin, a novel cytoskeletal protein specific for smooth muscle cells. (PubMed id 8707825)1, 2, 3, 9 van der Loop F.T....van Eys G.J. (1996)
    2. Identification and characterization of novel smoothelin isoforms in vascular smooth muscle. (PubMed id 11316948)1, 2, 9 Kraemer J.... Leonhardt H. (2001)
    3. Expression of the smoothelin gene is mediated by alternative promoters. (PubMed id 12176134)1, 2, 9 Rensen S.S.... Van Eys G.J.J.M. (2002)
    4. Assignment of the human gene for smoothelin (SMTN) to chromosome 22q12 by fluorescence in situ hybridization and radiation hybrid mapping. (PubMed id 9244445)1, 3, 9 Engelen J.J....van Eys G.J. (1997)
    5. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)
    6. A novel isoform of the smooth muscle cell differentiation marker smoothelin. (PubMed id 10023782)1, 2 Kraemer J.... Leonhardt H. (1999)
    7. Smoothelin expression characteristics: development of a smooth muscle cell in vitro system and identification of a vascular variant. (PubMed id 9113392)1, 9 van Eys G.J....van der Loop F.T. (1997)
    8. Smoothelin is a specific marker for smooth muscle neo plasms of the gastrointestinal tract. (PubMed id 19950405)1, 9 Coco D.P....Hornick J.L. (2009)
    9. Smoothelin in adult and developing human arteries and myocardium. (PubMed id 10550614)1, 9 Johansson B....Thornell L. (1999)
    10. Pitfalls in the use of smoothelin to identify muscula ris propria invasion by urothelial carcinoma. (PubMed id 20154589)1, 9 Miyamoto H....Epstein J.I. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6525 HGNC: 11126 AceView: SMTN Ensembl:ENSG00000183963 euGenes: HUgn6525
    ECgene: SMTN H-InvDB: SMTN

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SMTN Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SMTN gene:
    Search GeneIP for patents involving SMTN

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of SMTN
     Browse for Gene Knock-down Tools from EMD Millipore
     Browse Small Molecules at EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for SMTN  
     OriGene qPCR primer pairs and template standards for SMTN   OriGene Protein Over-expression Lysate for SMTN  
     OriGene MassSpec something-or-other for SMTN   OriGene clones in human, mouse for SMTN  
     OriGene qSTAR qPCR primer pairs in human, mouse for SMTN   OriGene Purified Protein for SMTN  
     OriGene ORF clones in mouse, rat for SMTN   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SMTN   OriGene Custom Protein Services for SMTN  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SMTN
     QIAGEN SeqTarget long-range PCR primers for resequencing SMTN
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMTN
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SMTN
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SMTN
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SMTN
     GenScript Custom Purified and Recombinant Proteins Services for SMTN GenScript cDNA clones with any tag delivered in your preferred vector for SMTN
     GenScript Custom Assay Services for SMTN GenScript Custom Superior Antibodies Services for SMTN
     GenScript Custom overexpressing Cell Line Services for SMTN CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in SMTN promoter
     Search Chromatin IP Primers for SMTN
     RT2 qPCR Primer Assay in human, mouse, rat SMTN
     Search GNC Networks for SMTN
     SABiosciences PCR Arrays including human, mouse, rat SMTN
     Search Tocris compounds for SMTN
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     cDNA Clones for SMTN
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     SMTN antibodies
     SMTN proteins
     SMTN lysates
     Antibodies for SMTN
     See all of Abcam's Antibodies, Kits and Proteins for SMTN
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for SMTN
     Antibodies for SMTN
     ELISAs for SMTN
     CLIAs for SMTN
     Search LifeMap BioReagents cell lines for SMTN
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMTN
     SwitchGear 3'UTR luciferase reporter plasmids for SMTN
     SwitchGear Promoter luciferase reporter plasmids for SMTN
     ThermoFisher Antibodies for SMTN
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMTN
     inGenious Targeting Laboratory - Custom generated mouse model solutions for SMTN
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SMTN
    Customized:
     lentivirus for stable overexpression of SMTN
     lentivirus expression plasmids for stable overexpression of SMTN
     adenovirus for overexpression of SMTN
     LSBio Antibodies in human, mouse, rat for SMTN
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      SMTN gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4