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SMTNL2 Gene

protein-coding   GIFtS: 42
GCID: GC17P004487

Smoothelin-Like 2

  Search for SMTNL2
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
Smoothelin-Like 21 2
Smoothelin-Like Protein 22

External Ids:    HGNC: 247641   Entrez Gene: 3425272   Ensembl: ENSG000001881767   UniProtKB: Q2TAL53   

Export aliases for SMTNL2 gene to outside databases

Previous GC identifer: GC17P004435


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SMTNL2 Gene:
SMTNL2 (smoothelin-like 2) is a protein-coding gene. An important paralog of this gene is MICALL2.


(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_000017.11  NT_010718.17  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SMTNL2 gene promoter:
         AhR   Tal-1   c-Myb   E47   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSMTNL2 promoter sequence
   Search Chromatin IP Primers for SMTNL2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SMTNL2


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

Entrez Gene cytogenetic band: 17p13.2   Ensembl cytogenetic band:  17p13.2   HGNC cytogenetic band: 17p13.2

SMTNL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMTNL2 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P004487:  view genomic region     (about GC identifiers)

Start:
4,487,276 bp from pter      End:
4,511,614 bp from pter
Size:
24,339 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SMTL2_HUMAN, Q2TAL5 (See protein sequence)
Recommended Name: Smoothelin-like protein 2  
Size: 461 amino acids; 50196 Da
Secondary accessions: Q6ZVK6
Alternative splicing: 2 isoforms:  Q2TAL5-1   Q2TAL5-2   

Explore the universe of human proteins at neXtProt for SMTNL2: NX_Q2TAL5

Explore proteomics data for SMTNL2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SMTNL2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001108446.1  NP_940903.2  

    ENSEMBL proteins: 
     ENSP00000345143   ENSP00000373964   ENSP00000460663  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR001715 CH-domain

    Graphical View of Domain Structure for InterPro Entry Q2TAL5

    ProtoNet protein and cluster: Q2TAL5

    UniProtKB/Swiss-Prot: SMTL2_HUMAN, Q2TAL5
    Similarity: Belongs to the smoothelin family
    Similarity: Contains 1 CH (calponin-homology) domain


    SMTNL2 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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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    SMTNL2 for ontologies           About GeneDecksing


    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidSMTNL2 3' UTR sequence
    Inhib. RNA
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    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus2
    golgi apparatus1

    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SMTNL2
    Interactions:

        Search GeneGlobe Interaction Network for SMTNL2

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

    5 Interacting proteins for SMTNL2 (ENSP000003739644) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CAPZA1ENSP000002631684STRING: ENSP00000263168
    CAPZA2ENSP000003549474STRING: ENSP00000354947
    MYO1FENSP000003448714STRING: ENSP00000344871
    --ENSP000004079504STRING: ENSP00000407950
    --ENSP000003642874STRING: ENSP00000364287
    About this table

    (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 SMTNL2 (SMTL2)



    (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,
    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 SMTNL2 gene (2 alternative transcripts): 
    NM_001114974.1  NM_198501.2  

    Unigene Cluster for SMTNL2:

    Smoothelin-like 2
    Hs.441709  [show with all ESTs]
    Unigene Representative Sequence: BC110859
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000338859(uc002fye.2) ENST00000389313(uc002fyf.1) ENST00000572951
    ENST00000570526
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SMTNL2 (see all 10):
    hsa-miR-1321 hsa-miR-29a hsa-miR-29c hsa-miR-340 hsa-miR-221* hsa-miR-548g hsa-miR-1184 hsa-miR-3151
    SwitchGear 3'UTR luciferase reporter plasmidSMTNL2 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat SMTNL2

    Additional mRNA sequence: 

    AK124452.1 BC105050.1 BC110859.1 BC112177.1 

    3 DOTS entries:

    DT.430996  DT.101976287  DT.100646974 

    Selected AceView cDNA sequences (see all 37):

    F30803 AW139268 AA917052 Z25264 F29354 AW316561 F31427 BM722819 
    F30793 BM977185 NM_198501 BF940647 BQ016479 BX500818 AK124452 F35794 
    W73082 F22045 W79213 AI193973 AJ346691 BM923710 BI765270 F00312 

    GeneLoc Exon Structure


    (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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    SMTNL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGACGGCACT
    SMTNL2 Expression
    About this image


    SMTNL2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Heart (Cardiovascular System)
             Endocardial Tube Cells Endocardium
     
     NULL (Uncategorized)
             Vascular endothelial growth factor-induced cells
    SMTNL2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SMTNL2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.441709
        Custom PCR Arrays for SMTNL2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMTNL2

    (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 SMTNL2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smtnl21 , 5 smoothelin-like 21, 5 84.58(n)1
    83.77(a)1
      11 (44.15 cM)5
    2768291  NM_177776.31  NP_808444.11 
     723891645 
    chicken
    (Gallus gallus)
    Aves SMTNL21 smoothelin-like 2 61.05(n)
    54.77(a)
      417687  XM_004946826.1  XP_004946883.1 
    lizard
    (Anolis carolinensis)
    Reptilia SMTNL26
    smoothelin-like 2
    70(a)
    1 ↔ 1
    GL344820.1(9856-13454)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004949681 smoothelin-like protein 2-like 58.94(n)
    54.41(a)
      100494968  XM_002933538.2  XP_002933584.1 
    zebrafish
    (Danio rerio)
    Actinopterygii smtnl1 smoothelin, like 56.21(n)
    50(a)
      399690  NM_212805.1  NP_997970.1 
    worm
    (Caenorhabditis elegans)
    Secernentea T15B12.16
    Protein T15B12.1, isoform b
    23(a)
    1 → many
    III(5288180-5298352) WBGene00020530


    ENSEMBL Gene Tree for SMTNL2 (if available)
    TreeFam Gene Tree for SMTNL2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SMTNL2 gene
    MICALL22  MICAL22  EHBP12  MICAL32  SPECC12  MICALL12  MICALCL2  MICAL12  
    SPECC1L-ADORA2A2  SMTN2  EHBP1L12  SPECC1L2  SMTNL12  
    2 SIMAP similar genes for SMTNL2 using alignment to 2 protein entries:     SMTL2_HUMAN (see all proteins):
    DMD    SMTN

    SMTNL2 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 SMTNL2 (see all 643)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1836722211,2
    --4485294(+) CCCAGG/TTTCCA 1 -- us2k10--------
    rs116535271,2
    H--4485355(+) tcttaA/Gggcct 1 -- us2k10--------
    rs1463780711,2
    --4485373(+) CCCGCC/TTCAGG 1 -- us2k10--------
    rs1879271841,2
    --4485414(+) TTTGAC/TTTTGT 1 -- us2k10--------
    rs1416666971,2
    --4485432(+) TGGCA-/GGGGGG 1 -- us2k10--------
    rs1395969321,2
    --4485550(+) AGGCGA/CCAGGG 1 -- us2k10--------
    rs1443309941,2
    --4485602(+) GACATA/CAGGGC 1 -- us2k10--------
    rs753730581,2
    C,F--4485641(+) TTCACG/AGGCCC 1 -- us2k12Minor allele frequency- A:0.10CSA WA 119
    rs1906597741,2
    --4485651(+) CTCACA/CTCCCT 1 -- us2k10--------
    rs129501321,2
    C--4485845(+) TTCCTC/TATGCT 2 -- us2k1 trp31Minor allele frequency- T:0.00NA 2

    HapMap Linkage Disequilibrium report for SMTNL2 (4487276 - 4511614 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SMTNL2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2715556CNV Deletion23290073
    esv997031CNV Deletion20482838
    nsv907616CNV Loss21882294
    nsv907615CNV Loss21882294
    nsv907617CNV Loss21882294
    dgv3050n71CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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      --

    (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 SMTNL2 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with SMTNL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (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: 342527 HGNC: 24764 AceView: FLJ42461 Ensembl:ENSG00000188176 euGenes: HUgn342527
    ECgene: SMTNL2 H-InvDB: SMTNL2

    (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 SMTNL2 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 SMTNL2 gene:
    Search GeneIP for patents involving SMTNL2

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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