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SMOC1 Gene

protein-coding   GIFtS: 50
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)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
SPARC Related Modular Calcium Binding 11 2
Secreted Modular Calcium-Binding Protein 12 3
OAS2 5
SPARC-Related Modular Calcium-Binding Protein 12
SMOC-13

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

Export aliases for SMOC1 gene to outside databases

Previous GC identifers: GC14P067851 GC14P064142 GC14P068336 GC14P069415 GC14P050514


(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 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 anophthalmos 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   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 Chromatin IP Primers for SMOC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: SMOC1_HUMAN, Q9H4F8 (See protein sequence)
Recommended Name: SPARC-related modular calcium-binding protein 1 precursor  
Size: 434 amino acids; 48163 Da
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: 

  • Glycosylated1
  • Glycosylation2 at Ser37, Thr163, Ser168, Ser172, Asn214, Thr300, Thr301, Ser351, Asn374
  • Modification sites at PhosphoSitePlus

  • See SMOC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000355110   ENSP00000370680  

    SMOC1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for SMOC1
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    Novus Biologicals SMOC1 Proteins
    Novus Biologicals SMOC1 Lysates
    Sino Biological Recombinant Protein for SMOC1
    Sino Biological Cell Lysate for SMOC1
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    Cloud-Clone Corp. Proteins for SMOC1

    SMOC1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for SMOC1 (SMOC-1)
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    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

    SMOC1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    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)
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    5 InterPro protein domains:
     IPR002350 Kazal_dom
     IPR011992 EF-hand-dom_pair
     IPR000716 Thyroglobulin_1
     IPR018247 EF_Hand_1_Ca_BS
     IPR019577 SPARC/Testican_Ca-bd-dom

    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,
    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: 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:    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 3 alleles(MGI details for Smoc1):
     behavior/neurological  cellular  craniofacial  digestive/alimentary  embryogenesis 
     growth/size/body  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: Let us create your new Knockout/Knockin mouse model for SMOC1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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:
        
    miRTarBase miRNAs that target SMOC1:
    hsa-mir-1260b (MIRT052734)

    Block miRNA regulation of human, mouse, rat SMOC1 using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for SMOC1
    Predesigned siRNA for gene silencing in human, mouse, rat SMOC1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for SMOC1

    Clone
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    OriGene clones in human, mouse for SMOC1 (see all 13)
    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

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for SMOC1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMOC1


    (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
    SMOC1_HUMAN, Q9H4F8: Secreted, extracellular space, extracellular matrix, basement membrane. Note=In or around
    the basement membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    mitochondrion1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    SMOC1 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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SMOC1
    Interactions:

        Search GeneGlobe Interaction Network 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): Selected biological process terms (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, 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 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,
    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 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:
         
    Block miRNA regulation of human, mouse, rat SMOC1 using miScript Target Protectors
    Selected qRT-PCR 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:
         
    OriGene RNAi products in human, mouse, rat for SMOC1
    Predesigned siRNA for gene silencing in human, mouse, rat SMOC1
    Clone
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    OriGene clones in human, mouse for SMOC1 (see all 13)
    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
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SMOC1
    OriGene qSTAR qPCR primer pairs in human, mouse for SMOC1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SMOC1
      QuantiTect SYBR Green Assays in human, mouse, rat SMOC1
      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 

    Selected AceView cDNA sequences (see all 142):

    BG911818 CR613515 BF939659 BU617984 BF515671 AI922772 CR610837 BF516292 
    AI421689 AI991974 BE222666 AI675952 AI417304 BQ183777 BE500929 BQ716564 
    BI224222 AW273926 AI197833 AI621294 BX362829 CR615496 BC008608 CR626369 

    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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    SMOC1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 9) fully expand
     
     Limb (Muscoskeletal System)    fully expand to see all 6 entries
             Interzone Cells Stylopod Synovial Joint
             Zeugopod
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Mesenchymal Condensate Cells Zeugopod
             Autopod Long Bone
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Interzone Cells Stylopod Synovial Joint
     
     Epithelial Cells
             Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
    SMOC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SMOC1 Protein Expression

    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

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    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SMOC1 gene from Selected species (see all 14)    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 81.97(n)
    89.9(a)
      768688  XM_001231760.3  XP_001231761.2 
    lizard
    (Anolis carolinensis)
    Reptilia SMOC16
    SPARC related modular calcium binding 1
    81(a)
    1 ↔ 1
    GL343318.1(807200-870873)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia smoc11 SPARC related modular calcium binding 1 76.25(n)
    86.01(a)
      100145733  NM_001127107.1  NP_001120579.1 
    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 (T04F3.2) mRNA, complete cds
    25(a)
    1 → many
    V(11757668-11758592) WBGene00011437


    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)
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    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), 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 SMOC1 (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) Selected 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
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608488   
    OMIM disorders: 206920  
    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

  • 9 diseases for SMOC1:    
    About MalaCards
    anophthalmos with limb anomalies    microphthalmia    anophthalmia/microphthalmia    syndactyly
    hepatitis b    retinitis    multiple myeloma    hepatitis
    myeloma

    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)
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    PubMed articles for SMOC1 gene, integrated from 10 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. (J. Biol. Chem. 2002)
    2. SMOC1 is essential for ocular and limb development in humans and mice. (PubMed id 21194678)1, 2 Okada I.... Saitsu H. (Am. J. Hum. Genet. 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. (Am. J. Hum. Genet. 2011)
    4. Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. (PubMed id 21750680)1, 2 Rainger J.... Fitzpatrick D.R. (PLoS Genet. 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. (J. Proteome Res. 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. (Genome Res. 2004)
    7. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)1, 2 Heilig R.... Weissenbach J. (Nature 2003)
    8. IL-17A but not IL-22 suppresses the replication of hepatitis 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. (Antiviral Res. 2013)
    9. Genetic association suggests that SMOC1 mediates between prenatal sex hormones and digit ratio. (PubMed id 23263445)1 Lawrance-Owen A.J....Mollon J.D. (Hum. Genet. 2013)
    10. Mutations in ALDH1A3 cause Microphthalmia. (PubMed id 23646827)2 Aldahmesh M.A.... Alkuraya F.S. (Clin. Genet. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 64093 HGNC: 20318 AceView: SMOC1 Ensembl:ENSG00000198732 euGenes: HUgn64093
    ECgene: SMOC1 H-InvDB: SMOC1

    (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 SMOC1 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 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



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