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

SMOC1 Gene

protein-coding   GIFtS: 48
GCID: GC14P070346

SPARC Related Modular Calcium Binding 1

  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
SPARC Related Modular Calcium Binding 11 2
Secreted Modular Calcium-Binding Protein 12 3
OAS2
SPARC-Related Modular Calcium-Binding Protein 12
SMOC-13

External Ids:    HGNC: 203181   Entrez Gene: 640932   Ensembl: ENSG000001987327   OMIM: 6084885   UniProtKB: Q9H4F83   

Export aliases for SMOC1 gene to outside databases

Previous GC identifers: GC14P067851 GC14P064142 GC14P068336 GC14P069415 GC14P050514


(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 SMOC1 Gene:
This gene encodes a multi-domain secreted protein that may have a critical role in ocular and limb development.
Mutations in this gene are associated with microphthalmia and limb anomalies. Alternatively spliced transcript
variants encoding different isoforms have been found for this gene. (provided by RefSeq, Mar 2011)

GeneCards Summary for SMOC1 Gene: 
SMOC1 (SPARC related modular calcium binding 1) is a protein-coding gene. Diseases associated with SMOC1 include microphthalmia with limb anomalies, and microphthalmia. GO annotations related to this gene include extracellular matrix binding and calcium ion binding. An important paralog of this gene is SMOC2.

UniProtKB/Swiss-Prot: SMOC1_HUMAN, Q9H4F8
Function: Plays essential roles in both eye and limb development. Probable regulator of osteoblast differentiation




(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_000014.8  NT_026437.12  NC_018925.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SMOC1 gene promoter:
         SRF   p53   HTF   SRF (504 AA)   Nkx2-5   Tal-1beta   HNF-4alpha1   E47   AREB6   ZID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSMOC1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SMOC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMOC1


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

Entrez Gene cytogenetic band: 14q24.2   Ensembl cytogenetic band:  14q24.2   HGNC cytogenetic band: 14q24.1

SMOC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMOC1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P070346:  view genomic region     (about GC identifiers)

Start:
70,320,848 bp from pter      End:
70,499,083 bp from pter
Size:
178,236 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: SMOC1_HUMAN, Q9H4F8 (See protein sequence)
Recommended Name: SPARC-related modular calcium-binding protein 1 precursor  
Size: 434 amino acids; 48163 Da
Subcellular location: Secreted, extracellular space, extracellular matrix, basement membrane. Note=In or around
the basement membrane
Secondary accessions: A8K1S3 B2R7P5 Q96F78
Alternative splicing: 2 isoforms:  Q9H4F8-1   Q9H4F8-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SMOC1: NX_Q9H4F8

Explore proteomics data for SMOC1 at MOPED 

Post-translational modifications:

  • UniProtKB: Glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H4F8

  • SMOC1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SMOC1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001030024.1  NP_071420.1  

    ENSEMBL proteins: 
     ENSP00000355110   ENSP00000370680  

    Human Recombinant Protein Products for SMOC1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for SMOC1 (SMOC-1)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for SMOC1
    OriGene Protein Over-expression Lysate for SMOC1
    OriGene MassSpec for SMOC1 
    OriGene Custom Protein Services for SMOC1
    GenScript Custom Purified and Recombinant Proteins Services for SMOC1
    Novus Biologicals SMOC1 Proteins
    Novus Biologicals SMOC1 Lysates
    Sino Biological Recombinant Protein for SMOC1
    Sino Biological Cell Lysate for SMOC1 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SMOC1 

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

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

    SMOC1 for ontologies           About GeneDecksing



    SMOC1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for SMOC1 (SMOC-1)
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for SMOC1
    GenScript Custom Superior Antibodies Services for SMOC1
    Novus Biologicals SMOC1 Antibodies
    Search for Antibodies for SMOC1 at Abcam
    Cloud-Clone Corp. Antibodies for SMOC1 
    ThermoFisher Antibodies for SMOC1
    LSBio Antibodies in human, mouse, rat for SMOC1 

    Assay Products for SMOC1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SMOC1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SMOC1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SMOC1 
    Cloud-Clone Corp. CLIAs for SMOC1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR018247 EF_Hand_1_Ca_BS
     IPR002350 Kazal_dom
     IPR011992 EF-hand-like_dom
     IPR019577 SPARC/Testican_Ca-bd-dom
     IPR000716 Thyroglobulin_1

    Graphical View of Domain Structure for InterPro Entry Q9H4F8

    ProtoNet protein and cluster: Q9H4F8

    UniProtKB/Swiss-Prot: SMOC1_HUMAN, Q9H4F8
    Similarity: Contains 2 EF-hand domains
    Similarity: Contains 1 Kazal-like domain
    Similarity: Contains 2 thyroglobulin type-1 domains


    SMOC1 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: SMOC1_HUMAN, Q9H4F8
    Function: Plays essential roles in both eye and limb development. Probable regulator of osteoblast differentiation

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI--
    GO:0050840extracellular matrix binding IEA--
         
    SMOC1 for ontologies           About GeneDecksing


    Phenotypes:
         15 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Smoc1):
     behavior/neurological  cellular  craniofacial  digestive/alimentary  embryogenesis 
     growth/size  homeostasis/metabolism  integument  limbs/digits/tail  mortality/aging 
     nervous system  other  pigmentation  skeleton  vision/eye 

    SMOC1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SMOC1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SMOC1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SMOC1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SMOC1 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SMOC1
    8/66 QIAGEN miScript miRNA Assays for microRNAs that regulate SMOC1 (see all 66):
    hsa-miR-300 hsa-miR-199a-3p hsa-miR-106a hsa-miR-1260b hsa-miR-519a hsa-miR-93 hsa-miR-130b hsa-miR-20a
    SwitchGear 3'UTR luciferase reporter plasmidSMOC1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SMOC1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SMOC1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SMOC1
    Sirion Biotech Customized adenovirus for overexpression of SMOC1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for SMOC1 (see all 15)
    OriGene ORF clones in mouse, rat for SMOC1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SMOC1 (NM_001034852)
    Sino Biological Human cDNA Clone for SMOC1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SMOC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMOC1
    Sirion Biotech Customized lentivirus for stable overexpression of SMOC1 
                         Customized lentivirus expression plasmids for stable overexpression of SMOC1 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SMOC1
    Search LifeMap BioReagents cell lines for SMOC1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMOC1


    (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 SMOC1

    1 Interacting protein for SMOC1 (Q9H4F81) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    Hoxa1P090221EBI-2801103,EBI-3957603
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001654eye development IMP--
    GO:0007165signal transduction IEA--
    GO:0010811positive regulation of cell-substrate adhesion IEA--
    GO:0030154cell differentiation IEA--
    GO:0030198extracellular matrix organization IEA--

    SMOC1 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SMOC1

    Search CenterWatch for drugs/clinical trials and news about SMOC1

    (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 SMOC1 gene (2 alternative transcripts): 
    NM_001034852.2  NM_022137.5  

    Unigene Cluster for SMOC1:

    SPARC related modular calcium binding 1
    Hs.497349  [show with all ESTs]
    Unigene Representative Sequence: NM_001034852
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000555917 ENST00000361956 ENST00000381280(uc001xlt.2 uc001xls.2)
    ENST00000553839 ENST00000557483
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SMOC1
    8/66 QIAGEN miScript miRNA Assays for microRNAs that regulate SMOC1 (see all 66):
    hsa-miR-300 hsa-miR-199a-3p hsa-miR-106a hsa-miR-1260b hsa-miR-519a hsa-miR-93 hsa-miR-130b hsa-miR-20a
    SwitchGear 3'UTR luciferase reporter plasmidSMOC1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SMOC1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SMOC1
    Clone
    Products:
         
    OriGene clones in human, mouse for SMOC1 (see all 15)
    OriGene ORF clones in mouse, rat for SMOC1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SMOC1 (NM_001034852)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SMOC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMOC1
    Sirion Biotech Customized lentivirus for stable overexpression of SMOC1 
                         Customized lentivirus expression plasmids for stable overexpression of SMOC1 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SMOC1
    OriGene qSTAR qPCR primer pairs in human, mouse for SMOC1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SMOC1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SMOC1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SMOC1

    Additional mRNA sequence: 

    AJ249900.1 AK098441.1 AK289988.1 AK313063.1 BC008608.1 BC011548.1 

    5 DOTS entries:

    DT.442228  DT.91756411  DT.95147330  DT.97838768  DT.100780435 

    24/142 AceView cDNA sequences (see all 142):

    AI401785 BM726404 BU947888 BQ446289 AI351686 BU947628 BU785718 BC011548 
    AI371885 CR613515 BF939659 BU617984 BF515671 AI922772 CR610837 BF516292 
    AI421689 AI991974 BE222666 AI675952 AI417304 BQ183777 BE500929 BQ716564 

    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™, 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

    SMOC1 expression in normal human tissues (normalized intensities)      SMOC1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGACGGCGC
    SMOC1 Expression
    About this image


    SMOC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/14 selected tissues (see all 14) fully expand
     
     Limb (Muscoskeletal System)    fully expand to see all 7 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod
             limb/hindlimb/leg   
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Mesenchymal Condensate Cells Zeugopod
             Autopod Long Bone
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...
             visceral organ/gut/foregut-midgut junction   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Mesenchymal Condensate Cells Zeugopod

    See SMOC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SMOC1

    SOURCE GeneReport for Unigene cluster: Hs.497349

    UniProtKB/Swiss-Prot: SMOC1_HUMAN, Q9H4F8
    Tissue specificity: Widely expressed in many tissues with a strongest signal in ovary. No expression in spleen

        SABiosciences Custom PCR Arrays for SMOC1
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SMOC1
    OriGene qSTAR qPCR primer pairs in human, mouse for SMOC1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SMOC1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SMOC1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SMOC1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMOC1

    (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 SMOC1 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smoc11 , 5 SPARC related modular calcium binding 15
    SPARC related modular calcium binding 11
    90.15(n)1
    96.07(a)1
      12 (37.28 cM)5
    640751  NM_001146217.11  NP_001139689.11 
     810268085 
    chicken
    (Gallus gallus)
    Aves SMOC11 SPARC related modular calcium binding 1 82.38(n)
    91.52(a)
      768688  XM_001231760.2  XP_001231761.1 
    lizard
    (Anolis carolinensis)
    Reptilia SMOC16
    --
    --
    80(a)
    40(a)
    1 ↔ 1
    possible ortholog
    GL343318.1(807200-870873)
    GL343958.1(46192-104927)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.140332 Transcribed sequence with moderate similarity to protein more 76.17(n)    BI841155.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta magu6
    magu
    17(a)
    1 → many
    2R(5940048-5951218)
    worm
    (Caenorhabditis elegans)
    Secernentea T04F3.26
    Protein T04F3.2
    25(a)
    1 → many
    V(11757668-11758592)


    ENSEMBL Gene Tree for SMOC1 (if available)
    TreeFam Gene Tree for SMOC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SMOC1 gene
    SMOC22  
    1 SIMAP similar gene for SMOC1 using alignment to 1 protein entry:     SMOC1_HUMAN:
    SMOC2

    SMOC1 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

    10/3354 SNPs in SMOC1 are shown (see all 3354)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0693274
    Ophthalmoacromelic syndrome (OAS)4--see VAR_0693272 T N mis40--------
    VAR_0693264
    Ophthalmoacromelic syndrome (OAS)4--see VAR_0693262 R C mis40--------
    VAR_0693284
    Ophthalmoacromelic syndrome (OAS)4--see VAR_0693282 R H mis40--------
    rs359062571,2
    C--50523960(+) TTTTTT/-CTTTT 2 -- int11Minor allele frequency- -:0.50NA 2
    rs361193491,2
    C--50555215(+) CCCCC-/CTTTCT 2 -- int11Minor allele frequency- C:0.00NA 2
    rs745548751,2
    F--50559985(+) GTAAGG/AGAGAG 2 -- int11Minor allele frequency- A:0.03NA 120
    rs114324711,2
    C--50560884(+) TTTTTT/-CAGTC 2 -- int1 trp31Minor allele frequency- -:0.50CSA 2
    rs576709741,2
    C--50563453(+) TCATT-/GGGGGG 2 -- int11Minor allele frequency- G:0.00CSA 2
    rs354509001,2
    C,F--50573337(+) CCCAG-/ACAAGA 2 -- int12Minor allele frequency- A:0.50NA CSA 4
    rs339849771,2
    C,F--50578513(+) GCTTTC/-CCCCC 2 -- int13Minor allele frequency- -:0.50NA CSA 6

    HapMap Linkage Disequilibrium report for SMOC1 (70320848 - 70499083 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/16 variations for SMOC1 (see all 16):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2748827CNV Deletion23290073
    esv2748828CNV Deletion23290073
    dgv293e201CNV Deletion23290073
    esv2748825CNV Deletion23290073
    esv2748822CNV Deletion23290073
    esv2658279CNV Deletion23128226
    esv2748824CNV Deletion23290073
    esv2748831CNV Deletion23290073
    esv2748823CNV Deletion23290073
    esv2405310CNV Deletion18987734


    Human Gene Mutation Database (HGMD): SMOC1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SMOC1
    DNA2.0 Custom Variant and Variant Library Synthesis for SMOC1

    (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: 608488    OMIM disorders: --

    UniProtKB/Swiss-Prot: SMOC1_HUMAN, Q9H4F8
  • Ophthalmoacromelic syndrome (OAS) [MIM:206920]: A rare disorder presenting with ocular anomalies, ranging
    from mild microphthalmia to true anophthalmia, and limb anomalies. Limb malformations include fused 4th and 5th
    metacarpals and short 5th finger in hands, and oligodactyly in foot (four toes). Most patients have bilateral
    anophthalmia/ microphthalmia, but unilateral abnormality is also noted. Other malformations are rare, but venous
    or vertebral anomaly was recognized each in single cases. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 4 diseases for SMOC1:    About MalaCards
    microphthalmia with limb anomalies    microphthalmia    anophthalmia/microphthalmia    syndactyly

    2 diseases from the University of Copenhagen DISEASES database for SMOC1:
    Microphthalmia     Syndactyly

    SMOC1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SMOC1

    Export disorders for SMOC1 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 SMOC1 gene, integrated from 9 sources (see all 19):
    (articles sorted by number of sources associating them with SMOC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of SMOC-1, a novel modular calcium-binding protein in basement membranes. (PubMed id 12130637)1, 2, 3 Vannahme C.... Hartmann U. (2002)
    2. SMOC1 is essential for ocular and limb development in humans and mice. (PubMed id 21194678)1, 2 Okada I....Saitsu H. (2011)
    3. Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome. (PubMed id 21194680)1, 2 Abouzeid H....Schorderet D.F. (2011)
    4. Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-a cromelic (Waardenburg Anophthalmia) syndrome in humans and mice. (PubMed id 21750680)1, 2 Rainger J....Fitzpatrick D.R. (2011)
    5. Secretome analysis of human BMSCs and identification of SMOC1 as an important ECM protein in osteoblast differentiation. (PubMed id 20359165)1, 2 Choi Y.A....Park E.K. (2010)
    6. 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. (2004)
    7. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)1, 2 Heilig R.... Weissenbach J. (2003)
    8. IL-17A but not IL-22 suppresses the replication of hep atitis B virus mediated by over-expression of MxA and OAS mRNA in the HepG2.2.15 cell line. (PubMed id 23274784)1 Wang B....Wang K. (2013)
    9. Genetic association suggests that SMOC1 mediates betwe en prenatal sex hormones and digit ratio. (PubMed id 23263445)1 Lawrance-Owen A.J....Mollon J.D. (2013)
    10. Mutations in ALDH1A3 cause Microphthalmia. (PubMed id 23646827)2 Aldahmesh M.A.... Alkuraya F.S. (2013)

    (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: 64093 HGNC: 20318 AceView: SMOC1 Ensembl:ENSG00000198732 euGenes: HUgn64093
    ECgene: SMOC1 H-InvDB: SMOC1

    (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 SMOC1 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 SMOC1 gene:
    Search GeneIP for patents involving SMOC1

    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

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Antibodies for SMOC1 (SMOC-1)   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   Recombinant/Natural Proteins for SMOC1 (SMOC-1)  
     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 SMOC1  
     OriGene qPCR primer pairs and template standards for SMOC1   OriGene Protein Over-expression Lysate for SMOC1  
     OriGene MassSpec something-or-other for SMOC1   OriGene clones in human, mouse for SMOC1  
     OriGene qSTAR qPCR primer pairs in human, mouse for SMOC1   OriGene Purified Protein for SMOC1  
     OriGene ORF clones in mouse, rat for SMOC1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SMOC1   OriGene Custom Protein Services for SMOC1  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SMOC1
     QIAGEN SeqTarget long-range PCR primers for resequencing SMOC1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMOC1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SMOC1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SMOC1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SMOC1
     GenScript Custom Purified and Recombinant Proteins Services for SMOC1 GenScript cDNA clones with any tag delivered in your preferred vector for SMOC1
     GenScript Custom Assay Services for SMOC1 GenScript Custom Superior Antibodies Services for SMOC1
     GenScript Custom overexpressing Cell Line Services for SMOC1 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 SMOC1 promoter
     Search Chromatin IP Primers for SMOC1
     RT2 qPCR Primer Assay in human, mouse, rat SMOC1
     Search GNC Networks for SMOC1
     SABiosciences Custom PCR Arrays for SMOC1
     Search Tocris compounds for SMOC1
     Proteins and Antibodies for SMOC1
     Cell Lysates for SMOC1
     cDNA Clones for SMOC1
     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
     SMOC1 antibodies
     SMOC1 proteins
     SMOC1 lysates
     Search for Antibodies for SMOC1 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for SMOC1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for SMOC1
     Antibodies for SMOC1
     ELISAs for SMOC1
     CLIAs for SMOC1
     Search LifeMap BioReagents cell lines for SMOC1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMOC1
     SwitchGear 3'UTR luciferase reporter plasmids for SMOC1
     SwitchGear Promoter luciferase reporter plasmids for SMOC1
     ThermoFisher Antibodies for SMOC1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMOC1
     inGenious Targeting Laboratory - Custom generated mouse model solutions for SMOC1
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SMOC1
    Customized:
     lentivirus for stable overexpression of SMOC1
     lentivirus expression plasmids for stable overexpression of SMOC1
     adenovirus for overexpression of SMOC1
     LSBio Antibodies in human, mouse, rat for SMOC1
    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      SMOC1 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4