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SMOC2 Gene

protein-coding   GIFtS: 57
GCID: GC06P168841

SPARC Related Modular Calcium Binding 2

  See SMOC2-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
SPARC Related Modular Calcium Binding 21 2     MSTP1172
SMAP22 3 5     MSTP1402
Secreted Modular Calcium-Binding Protein 22 3     bA270C4A.12
Smooth Muscle-Associated Protein 22 3     bA37D8.12
SMAP-22 3     dJ421D16.12
SMOC-22 3     Smooth Muscle Associated Protein 22
DTDP12 5     SPARC-Related Modular Calcium-Binding Protein 22
MST1172     Thyroglobulin Type-1 Repeat Containing Protein2

External Ids:    HGNC: 203231   Entrez Gene: 640942   Ensembl: ENSG000001125627   OMIM: 6072235   UniProtKB: Q9H3U73   

Export aliases for SMOC2 gene to outside databases

Previous GC identifers: GC06P168042 GC06P168563 GC06P168599 GC06P168660 GC06P168584 GC06P166268


(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 SMOC2 Gene:
This gene encodes a member of the SPARC family (secreted protein acidic and rich in cysteine/osteonectin/BM-40),
which are highly expressed during embryogenesis and wound healing. The gene product is a matricellular protein
which promotes matrix assembly and can stimulate endothelial cell proliferation and migration, as well as
angiogenic activity. Associated with pulmonary function, this secretory gene product contains a Kazal domain, two
thymoglobulin type-1 domains, and two EF-hand calcium-binding domains. The encoded protein may serve as a target
for controlling angiogenesis in tumor growth and myocardial ischemia. Alternative splicing results in multiple
transcript variants. (provided by RefSeq, Oct 2009)

GeneCards Summary for SMOC2 Gene:
SMOC2 (SPARC related modular calcium binding 2) is a protein-coding gene. Diseases associated with SMOC2 include dentin dysplasia, type i, with microdontia and misshapen teeth, and pulmonary function. GO annotations related to this gene include heparin binding and calcium ion binding. An important paralog of this gene is SMOC1.

UniProtKB/Swiss-Prot: SMOC2_HUMAN, Q9H3U7
Function: Promotes matrix assembly and cell adhesiveness (By similarity). Can stimulate endothelial cell
proliferation, migration, as well as angiogenesis

Gene Wiki entry for SMOC2 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 at NCBI GenBank:
NC_000006.11  NC_018917.2  NT_025741.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the SMOC2 gene promoter:
         C/EBPbeta   AML1a   NRSF form 1   FOXO3   MyoD   IRF-1   NRSF form 2   Sox9   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSMOC2 promoter sequence
   Search Chromatin IP Primers for SMOC2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SMOC2


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

Entrez Gene cytogenetic band: 6q27   Ensembl cytogenetic band:  6q27   HGNC cytogenetic band: 6q27

SMOC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMOC2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P168841:  view genomic region     (about GC identifiers)

Start:
168,841,831 bp from pter      End:
169,073,984 bp from pter
Size:
232,154 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: SMOC2_HUMAN, Q9H3U7 (See protein sequence)
Recommended Name: SPARC-related modular calcium-binding protein 2 precursor  
Size: 446 amino acids; 49674 Da
Subunit: Binds various proteins from the extracellular matrix (By similarity)
Sequence caution: Sequence=AAQ13639.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B3KPS7 Q4G169 Q5TAT7 Q5TAT8 Q86VV9 Q96SF3 Q9H1L3 Q9H1L4 Q9H3U0 Q9H4F7
Q9HCV2
Alternative splicing: 2 isoforms:  Q9H3U7-1   Q9H3U7-2   

Explore the universe of human proteins at neXtProt for SMOC2: NX_Q9H3U7

Explore proteomics data for SMOC2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn206, Asn362
  • Modification sites at PhosphoSitePlus

  • See SMOC2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001159884.1  NP_071421.1  

    ENSEMBL proteins: 
     ENSP00000348630   ENSP00000346537   ENSP00000375949   ENSP00000398696  

    SMOC2 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for SMOC2
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    Novus Biologicals SMOC2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SMOC2

     
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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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    HGNC Gene Families:
    EFHAND: EF-hand domain containing

    Selected InterPro protein domains (see all 6):
     IPR002350 Kazal_dom
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR000716 Thyroglobulin_1
     IPR018247 EF_Hand_1_Ca_BS

    Graphical View of Domain Structure for InterPro Entry Q9H3U7

    ProtoNet protein and cluster: Q9H3U7

    1 Blocks protein domain: IPB000716 Thyroglobulin type-1

    UniProtKB/Swiss-Prot: SMOC2_HUMAN, Q9H3U7
    Similarity: Contains 2 EF-hand domains
    Similarity: Contains 1 Kazal-like domain
    Similarity: Contains 2 thyroglobulin type-1 domains


    Find genes that share domains with SMOC2           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SMOC2_HUMAN, Q9H3U7
    Function: Promotes matrix assembly and cell adhesiveness (By similarity). Can stimulate endothelial cell
    proliferation, migration, as well as angiogenesis

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
    GO:0005539glycosaminoglycan binding ----
    GO:0008201heparin binding IEA--
         
    Find genes that share ontologies with SMOC2           About GenesLikeMe


    Phenotypes:
         1 MGI phenotypic allele for Smoc2 (no phenotypes)

    Find genes that share phenotypes with SMOC2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Smoc2tm1(KOMP)Vlcg for SMOC2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SMOC2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SMOC2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SMOC2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SMOC2

    miRNA
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    miRTarBase miRNAs that target SMOC2:
    hsa-mir-335-5p (MIRT017988)

    Block miRNA regulation of human, mouse, rat SMOC2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SMOC2 (see all 50):
    hsa-miR-140-5p hsa-miR-548j hsa-miR-513a-5p hsa-miR-548k hsa-miR-106a hsa-miR-301a hsa-miR-519a hsa-miR-548l
    SwitchGear 3'UTR luciferase reporter plasmidSMOC2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SMOC2
    Predesigned siRNA for gene silencing in human, mouse, rat SMOC2

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): SMOC2 (NM_022138)
    Sino Biological Human cDNA Clone for SMOC2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SMOC2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMOC2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMOC2


    (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
    SMOC2_HUMAN, Q9H3U7: Secreted, extracellular space, extracellular matrix, basement membrane (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular3
    nucleus1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix ----
    GO:0005604basement membrane IEA--
    GO:0005614interstitial matrix IEA--
    GO:0031012extracellular matrix ----

    Find genes that share ontologies with SMOC2           About GenesLikeMe


    (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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    SuperPaths for SMOC2 About    
    See pathways by source

    SuperPathContained pathways About
    1Gastric cancer network 1
    Gastric cancer network 1


    1 BioSystems Pathway for SMOC2
        Gastric cancer network 1



        Pathway & Disease-focused RT2 Profiler PCR Array including SMOC2: 
              Polycomb & Trithorax Target Genes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SMOC2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for SMOC2 (Q9H3U73 ENSP000003465374) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BANF1O755313, ENSP000003102754I2D: score=1 STRING: ENSP00000310275
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction IEA--
    GO:0010811positive regulation of cell-substrate adhesion IEA--
    GO:0030198extracellular matrix organization IEA--

    Find genes that share ontologies with SMOC2           About GenesLikeMe



    (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 SMOC2



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SMOC2 gene (2 alternative transcripts): 
    NM_001166412.1  NM_022138.2  

    Unigene Cluster for SMOC2:

    SPARC related modular calcium binding 2
    Hs.487200  [show with all ESTs]
    Unigene Representative Sequence: NM_022138
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000356284(uc003qws.2 uc011egu.2) ENST00000354536(uc003qwr.2)
    ENST00000392100 ENST00000417208 ENST00000477998
    miRNA
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    Block miRNA regulation of human, mouse, rat SMOC2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SMOC2 (see all 50):
    hsa-miR-140-5p hsa-miR-548j hsa-miR-513a-5p hsa-miR-548k hsa-miR-106a hsa-miR-301a hsa-miR-519a hsa-miR-548l
    SwitchGear 3'UTR luciferase reporter plasmidSMOC2 3' UTR sequence
    Inhib. RNA
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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 2): SMOC2 (NM_022138)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SMOC2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMOC2
    Primer
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    OriGene qPCR primer pairs and template standards for SMOC2
    OriGene qSTAR qPCR primer pairs in human, mouse for SMOC2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SMOC2
      QuantiTect SYBR Green Assays in human, mouse, rat SMOC2
      QuantiFast Probe-based Assays in human, mouse, rat SMOC2

    Additional mRNA sequence: 

    AB014730.1 AB014737.1 AF173892.1 AF176778.1 AJ249902.1 AJ420521.1 AK056700.1 AK297839.1 
    AK314613.1 AK315920.1 AL832303.1 BC028420.1 BC047583.1 

    8 DOTS entries:

    DT.116957  DT.100025804  DT.100780778  DT.40118653  DT.97797330  DT.121404528  DT.121404511  DT.91642353 

    Selected AceView cDNA sequences (see all 236):

    AW008428 CD679310 BQ004721 BM677616 CD676889 AA732827 W69579 AI095665 
    AI926591 AA601518 BU730968 BQ446435 BM670733 CK724923 BP345455 CD672368 
    AW192904 BF062703 AI445766 BM723084 AI918635 AI130013 BU789194 BP346044 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for SMOC2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
    SP1:                          -                 -                 -                                 
    SP2:                          -                                   -                                 
    SP3:                                            -                                                   


    ECgene alternative splicing isoforms for SMOC2

    (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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    SMOC2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCAATGTTGT
    SMOC2 Expression
    About this image


    SMOC2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 16) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Mesenchymal Condensate Cells Zeugopod
             Mandibular Process
             Chondrocyte-like cells
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Metanephric Mesenchyme Cells Metanephric Mesenchyme
             Metanephros
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Mesenchymal Condensate Cells Zeugopod
             Chondrocyte-like cells
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Endothelial Cells Blood Brain Barrier
             Cerebellum
     
     Intermediate Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             Mesonephric cells Mesonephros
             Mesonephros
    SMOC2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SMOC2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.487200
        Pathway & Disease-focused RT2 Profiler PCR Array including SMOC2: 
              Polycomb & Trithorax Target Genes in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMOC2

    (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 SMOC2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smoc21 , 5 SPARC related modular calcium binding 21, 5 84.45(n)1
    94.84(a)1
      17 (8.95 cM)5
    640741  NM_022315.21  NP_071710.21 
     142795065 
    chicken
    (Gallus gallus)
    Aves SMOC21 SPARC related modular calcium binding 2 79.02(n)
    90.4(a)
      421559  XM_419600.4  XP_419600.4 
    lizard
    (Anolis carolinensis)
    Reptilia SMOC26
    SPARC related modular calcium binding 2
    82(a)
    1 ↔ 1
    1(224243155-224442845)
    zebrafish
    (Danio rerio)
    Actinopterygii wufb75d102 wufb75d10 74.28(n)   322867  CK127336.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta magu6
    magu
    18(a)
    1 → many
    2R(5940048-5951218)
    worm
    (Caenorhabditis elegans)
    Secernentea T04F3.26
    Protein T04F3.2 (T04F3.2) mRNA, complete cds
    23(a)
    1 → many
    V(11757668-11758592) WBGene00011437


    ENSEMBL Gene Tree for SMOC2 (if available)
    TreeFam Gene Tree for SMOC2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SMOC2 gene
    SMOC12  
    2 SIMAP similar genes for SMOC2 using alignment to 3 protein entries:     SMOC2_HUMAN (see all proteins):
    SMOC1    SPARC

    Find genes that share paralogs with SMOC2           About GenesLikeMe



    (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 SMOC2 (see all 6877)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2074675981,2
    Cuntested1168970731(+) CTAGAC/G/TGGCAT 2 -- int10--------
    rs1913188131,2
    --168839869(+) CCAAAC/GCTGCC 2 -- us2k10--------
    rs594418181,2
    C,F--168839895(+) TTGGAC/GAAATG 2 -- us2k12Minor allele frequency- G:0.21WA 120
    rs1166311671,2
    F--168839958(+) AAGACG/ATGTTG 2 -- us2k11Minor allele frequency- A:0.01WA 118
    rs1407202931,2
    --168840002(+) ATTTTC/TTTCTG 2 -- us2k10--------
    rs753042371,2
    C,F--168840164(+) AAGTCT/CGCTTC 2 -- us2k11Minor allele frequency- C:0.09WA 118
    rs1451993951,2
    --168840190(+) GCAGCA/GGACGA 2 -- us2k10--------
    rs1838499511,2
    --168840283(+) CTTTAA/GTAGCA 2 -- us2k10--------
    rs38971881,2
    C,H--168840465(-) TGGGTC/GCAGAA 2 -- us2k17Minor allele frequency- G:0.00NS EA NA 546
    rs1870145771,2
    --168840554(+) GATTCA/CCTGGG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for SMOC2 (168841831 - 169073984 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SMOC2 (see all 110):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv821170CNV Deletion20802225
    esv1954927CNV Deletion18987734
    esv2733382CNV Deletion23290073
    esv2733381CNV Deletion23290073
    esv2659657CNV Deletion23128226
    esv1003442CNV Deletion20482838
    esv2733399CNV Deletion23290073
    dgv1091e201CNV Deletion23290073
    esv2733360CNV Deletion23290073
    esv2125624CNV Deletion18987734

    Human Gene Mutation Database (HGMD): SMOC2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SMOC2
    DNA2.0 Custom Variant and Variant Library Synthesis for SMOC2

    (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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    OMIM gene information: 607223   
    OMIM disorders: 125400  
    UniProtKB/Swiss-Prot: SMOC2_HUMAN, Q9H3U7
  • Dentin dysplasia 1 (DTDP1) [MIM:125400]: A dental defect in which both primary and secondary dentitions
    are affected. The clinical crowns of both permanent and deciduous teeth are of normal shape, form and color in
    most cases, although they may be slightly opalescent and blue or brown. Teeth may be very mobile and exfoliate
    spontaneously because of inadequate root formation. On radiographs, the roots are short and may be more pointed
    than normal. Pulp chambers are usually absent except for a chevron-shaped remnant in the crown. Root canals are
    usually absent. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 4 diseases for SMOC2:    
    About MalaCards
    dentin dysplasia, type i, with microdontia and misshapen teeth    pulmonary function    dentin dysplasia    ischemia

    1 disease from the University of Copenhagen DISEASES database for SMOC2:
    Dentin dysplasia

    Find genes that share disorders with SMOC2           About GenesLikeMe

    Genetic Association Database (GAD): SMOC2
    Human Genome Epidemiology (HuGE) Navigator: SMOC2 (3 documents)

    Export disorders for SMOC2 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 SMOC2 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with SMOC2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a novel smooth muscle associated protein, smap2, upregulated during neointima formation in a rat carotid endarterectomy model. (PubMed id 12031507)1, 2, 3 Nishimoto S....Komurasaki T. (Biochim. Biophys. Acta 2002)
    2. Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects. (PubMed id 22152679)1, 2 Bloch-Zupan A.... Dollfus H. (Am. J. Hum. Genet. 2011)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8. (PubMed id 19890347)1, 4 Birlea S.A....Spritz R.A. (J. Invest. Dermatol. 2010)
    5. SMOC2 gene variant and the risk of vitiligo in Jordanian Arabs. (PubMed id 20965805)1, 4 Alkhateeb A....Qarqaz F. (Eur J Dermatol 2010)
    6. The novel SPARC family member SMOC-2 potentiates angiogenic growth factor activity. (PubMed id 16774925)1, 2 Rocnik E.F.... Vaziri C. (J. Biol. Chem. 2006)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. Characterization of SMOC-2, a modular extracellular calcium-binding protein. (PubMed id 12741954)1, 2 Vannahme C.... Hartmann U. (Biochem. J. 2003)
    10. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)

    (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: 64094 HGNC: 20323 AceView: SMOC2 Ensembl:ENSG00000112562 euGenes: HUgn64094
    ECgene: SMOC2 H-InvDB: SMOC2

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for SMOC2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SMOC2 gene:
    Search GeneIP for patents involving SMOC2

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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