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SMTN Gene

protein-coding   GIFtS: 56
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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 glomus tumor, and digeorge syndrome. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000022.11  NT_011520.13  NC_018933.2  
Regulatory elements:
   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 Chromatin IP Primers for SMTN

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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:
31,500,743 bp from pter
Size:
40,653 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SMTN_HUMAN, P53814 (See protein sequence)
Recommended Name: Smoothelin  
Size: 917 amino acids; 99059 Da
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SMTN Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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  

    SMTN Human Recombinant Protein Products:

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    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

    SMTN Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SMTN
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    SMTN Assay Products:

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    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)
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    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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/body  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: Let us create your new Knockout/Knockin mouse model for SMTN
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
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    2 qRT-PCR Assays for microRNAs that regulate SMTN:
    hsa-miR-374a* hsa-miR-32*
    SwitchGear 3'UTR luciferase reporter plasmidSMTN 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for SMTN
    Predesigned siRNA for gene silencing in human, mouse, rat SMTN

    Gene Editing
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    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

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMTN


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SMTN_HUMAN, P53814: Cytoplasm, cytoskeleton. Note=Exhibits a filamentous organization
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol3
    nucleus3
    extracellular2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton TAS8707825
    GO:0015629actin cytoskeleton IDA--

    SMTN for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Arrays including SMTN: 
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SMTN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for SMTN (P538143 ENSP000003515934) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    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:    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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    SMTN for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    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:
         
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    2 qRT-PCR Assays for microRNAs that regulate SMTN:
    hsa-miR-374a* hsa-miR-32*
    SwitchGear 3'UTR luciferase reporter plasmidSMTN 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SMTN
    Predesigned siRNA for gene silencing in human, mouse, rat SMTN
    Clone
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    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
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SMTN
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SMTN
      QuantiTect SYBR Green Assays in human, mouse, rat SMTN
      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 

    Selected 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 

    Selected AceView cDNA sequences (see all 369):

    AL602594 BM554266 CB269964 NM_134270 BQ685833 AL703054 NM_134269 BC012026 
    BM559955 BM835256 AI536682 AL602667 CA975997 BQ877384 BQ717212 BU149377 
    CB044038 BM850665 H39017 BM558806 BM741881 CR606811 BM757128 CB143080 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SMTN expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 9) fully expand
     
     Smooth Muscle (Muscoskeletal System)    fully expand to see all 9 entries
             Vascular Smooth Muscle Cells Splanchnic Mesoderm
             Neuroectoderm-derived smooth muscle cells
     
     Endothelium (Cardiovascular System)
             Vascular Smooth Muscle Cells Veins
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)
             Vascular Smooth Muscle Cells Splanchnic Mesoderm
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
             Hindgut
     
     Heart (Cardiovascular System)
             Vascular Smooth Muscle Cells Aortic Arch Arteries
    SMTN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SMTN Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.149098

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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SMTN: 
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat

    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SMTN
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    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SMTN gene from Selected 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 82.79(n)1
    82.06(a)1
      11 (2.47 cM)5
    298561  NM_001284427.11  NP_001271356.11 
     35175235 
    chicken
    (Gallus gallus)
    Aves SMTN6
    smoothelin
    68(a)
    1 ↔ 1
    15(9972759-9987617)
    lizard
    (Anolis carolinensis)
    Reptilia SMTN6
    smoothelin
    50(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 smtnb6
    smoothelin b
    54(a)
    1 ↔ 1
    5(72150092-72176308) ENSDARG00000059442
    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)
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    Paralogs for SMTN gene
    MICALL22  MICAL22  EHBP12  MICAL32  SPECC12  SMTNL22  MICALL12  MICALCL2  
    MICAL12  SPECC1L-ADORA2A2  EHBP1L12  SPECC1L2  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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SMTN (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 - 31500743 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

    Site Specific Mutation Identification with 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.)
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    OMIM gene information: 602127    OMIM disorders: --

    Selected diseases for SMTN (see all 21):    
    About MalaCards
    glomus tumor    digeorge syndrome    cavernous malformation    cerebral cavernous malformation
    barrett's esophagus    bladder carcinoma    choroiditis    hepatitis c virus
    cerebritis    hepatitis c    breast and colorectal cancer    ischemia
    myocardial infarction    hypertension    hepatocellular carcinoma    endotheliitis
    hepatitis    melanoma    colorectal cancer    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)
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    PubMed articles for SMTN gene, integrated from 10 sources (see all 92):
    (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.L....van Eys G.J.J.M. (J. Cell Biol. 1996)
    2. Identification and characterization of novel smoothelin isoforms in vascular smooth muscle. (PubMed id 11316948)1, 2, 9 Kraemer J.... Leonhardt H. (J. Vasc. Res. 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. (Cardiovasc. Res. 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. (Genomics 1997)
    5. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I.... Wright H. (Nature 1999)
    6. A novel isoform of the smooth muscle cell differentiation marker smoothelin. (PubMed id 10023782)1, 2 Kraemer J.... Leonhardt H. (J. Mol. Med. 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. (Cell Struct. Funct. 1997)
    8. Smoothelin is a specific marker for smooth muscle neoplasms of the gastrointestinal tract. (PubMed id 19950405)1, 9 Coco D.P....Hornick J.L. (Am. J. Surg. Pathol. 2009)
    9. Smoothelin in adult and developing human arteries and myocardium. (PubMed id 10550614)1, 9 Johansson B....Thornell L. (Histochem. Cell Biol. 1999)
    10. Pitfalls in the use of smoothelin to identify muscularis propria invasion by urothelial carcinoma. (PubMed id 20154589)1, 9 Miyamoto H....Epstein J.I. (Am. J. Surg. Pathol. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 6525 HGNC: 11126 AceView: SMTN Ensembl:ENSG00000183963 euGenes: HUgn6525
    ECgene: SMTN H-InvDB: SMTN

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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



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