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BOC Gene

protein-coding   GIFtS: 58
GCID: GC03P112929

BOC Cell Adhesion Associated, Oncogene Regulated

(Previous name: Boc homolog (mouse))
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
BOC Cell Adhesion Associated, Oncogene Regulated1 2     Oncogene Regulated 21
Brother Of CDO1 2     CDON22
Brother Of CDON1 2     Boc Homolog2
Boc Homolog (Mouse)1     Cell Adhesion Associated, Oncogene Regulated 22
Cell Adhesion Associated1     Protein BOC3

External Ids:    HGNC: 171731   Entrez Gene: 916532   Ensembl: ENSG000001448577   OMIM: 6087085   UniProtKB: Q9BWV13   

Export aliases for BOC gene to outside databases

Previous GC identifers: GC03P109713 GC03P112500 GC03P114211 GC03P114251 GC03P114252 GC03P114413 GC03P110306


(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 BOC Gene:
The protein encoded by this gene is a member of the immunoglobulin/fibronectin type III repeat family. It is a
component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells,
and promotes myogenic differentiation. (provided by RefSeq, Sep 2011)

GeneCards Summary for BOC Gene:
BOC (BOC cell adhesion associated, oncogene regulated) is a protein-coding gene. Diseases associated with BOC include epiglottitis, and hereditary breast ovarian cancer. An important paralog of this gene is CDON.

UniProtKB/Swiss-Prot: BOC_HUMAN, Q9BWV1
Function: Component of a cell-surface receptor complex that mediates cell-cell interactions between muscle
precursor cells. Promotes differentiation of myogenic cells

Gene Wiki entry for BOC Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BOC gene promoter:
         p53   MyoD   POU3F2   C/EBPalpha   CHOP-10   PPAR-gamma1   Nkx6-1   FOXO4   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBOC promoter sequence
   Search Chromatin IP Primers for BOC

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


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

Entrez Gene cytogenetic band: 3q13.2   Ensembl cytogenetic band:  3q13.2   HGNC cytogenetic band: 3q13.2

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

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P112929:  view genomic region     (about GC identifiers)

Start:
112,929,850 bp from pter      End:
113,006,306 bp from pter
Size:
76,457 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: BOC_HUMAN, Q9BWV1 (See protein sequence)
Recommended Name: Brother of CDO precursor  
Size: 1114 amino acids; 121059 Da
Subunit: Part of a complex that contains BOC, CDON, NEO1, cadherins and CTNNB1. Interacts with NTN3 (By
similarity). Interacts with SHH, DHH and IHH. Interacts with CDH2 and CTNNB1. Interacts with CDH15 only during
the early stages of myoblast differentiation
Miscellaneous: The C-terminal cytoplasmic domain is not required for the stimuation of myogenesis
Sequence caution: Sequence=BAC11057.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
3 PDB 3D structures from and Proteopedia for BOC:
3N1G (3D)        3N1M (3D)        3N1P (3D)    
Secondary accessions: A6NJ30 B2RMS8 D3DN70 Q6UXJ5 Q8N2P7 Q8NF26
Alternative splicing: 3 isoforms:  Q9BWV1-1   Q9BWV1-2   Q9BWV1-3   (No experimental confirmation available. Incomplete sequence)

Explore the universe of human proteins at neXtProt for BOC: NX_Q9BWV1

Explore proteomics data for BOC at MOPED

Post-translational modifications: 

  • N-glycosylated1
  • Glycosylation2 at Asn65, Asn76, Asn98, Asn189, Asn275, Asn517, Asn725, Asn759

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

    REFSEQ proteins: NP_150279.1  
    ENSEMBL proteins: 
     ENSP00000417362   ENSP00000418663   ENSP00000419022   ENSP00000420154   ENSP00000418118  
     ENSP00000273395   ENSP00000418260   ENSP00000417337   ENSP00000420056   ENSP00000418182  
     ENSP00000347546  
    Reactome Protein details: Q9BWV1

    BOC Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for BOC
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    Novus Biologicals BOC Proteins
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    Cloud-Clone Corp. Proteins for BOC

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    BOC Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. CLIAs for BOC


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FN3: Fibronectin type III domain containing
    ISET: Immunoglobulin superfamily / I-set domain containing
    IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing

    Selected InterPro protein domains (see all 6):
     IPR003598 Ig_sub2
     IPR003961 Fibronectin_type3
     IPR013098 Ig_I-set
     IPR013783 Ig-like_fold
     IPR007110 Ig-like_dom

    Graphical View of Domain Structure for InterPro Entry Q9BWV1

    ProtoNet protein and cluster: Q9BWV1

    2 Blocks protein domains:
    IPB002052 N-6 Adenine-specific DNA methylase
    IPB003598 Immunoglobulin C-2 type


    UniProtKB/Swiss-Prot: BOC_HUMAN, Q9BWV1
    Similarity: Contains 3 fibronectin type-III domains
    Similarity: Contains 4 Ig-like C2-type (immunoglobulin-like) domains


    BOC 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: BOC_HUMAN, Q9BWV1
    Function: Component of a cell-surface receptor complex that mediates cell-cell interactions between muscle
    precursor cells. Promotes differentiation of myogenic cells

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11782431
         
    BOC for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for BOC:
     Decreased viability of wild-ty 

         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Boc):
     craniofacial  digestive/alimentary  limbs/digits/tail  mortality/aging  nervous system 
     normal  respiratory system  skeleton  vision/eye 

    BOC for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Boctm1Aok for BOC

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BOC
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BOC
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BOC

    miRNA
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    miRTarBase miRNAs that target BOC:
    hsa-mir-21-5p (MIRT030663), hsa-mir-128-3p (MIRT021881)

    Block miRNA regulation of human, mouse, rat BOC using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BOC (see all 10):
    hsa-miR-519c-3p hsa-miR-519a hsa-miR-410 hsa-miR-519b-3p hsa-miR-4314 hsa-miR-338-5p hsa-miR-466 hsa-miR-130b*
    SwitchGear 3'UTR luciferase reporter plasmidBOC 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for BOC
    Predesigned siRNA for gene silencing in human, mouse, rat BOC

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for BOC

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    OriGene ORF clones in mouse, rat for BOC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: BOC (NM_033254)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BOC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BOC

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


    (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
    BOC_HUMAN, Q9BWV1: Cell membrane; Single-pass type I membrane protein. Note=Enriched at sites of cell-cell
    contact
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    nucleus3
    mitochondrion2
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016021integral component of membrane IEA--
    GO:0030424axon ----
    GO:0030426growth cone ----
    GO:0043025neuronal cell body IEA--

    BOC 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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    SuperPaths for BOC About    
    See pathways by source

    SuperPathContained pathways About
    1CDO in myogenesis
    CDO in myogenesis1.00
    Myogenesis1.00
    2L1CAM interactions
    Developmental Biology0.63
    3Signaling events mediated by the Hedgehog family
    Signaling events mediated by the Hedgehog family

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for BOC
        Signaling events mediated by the Hedgehog family

    1 Reactome Pathway for BOC
        CDO in myogenesis



    BOC for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including BOC: 
              Hedgehog Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for BOC

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for BOC (Q9BWV13 ENSP000003475464) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDH2P190223, ENSP000002691414I2D: score=2 STRING: ENSP00000269141
    CDH15P552913, ENSP000002897464I2D: score=1 STRING: ENSP00000289746
    CDONQ4KMG03, ENSP000002635774I2D: score=2 STRING: ENSP00000263577
    CDH1P128303, ENSP000002617694I2D: score=1 STRING: ENSP00000261769
    CTNNB1P352223, ENSP000003444564I2D: score=2 STRING: ENSP00000344456
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--
    GO:0007224smoothened signaling pathway IEA--
    GO:0007411axon guidance IEA--
    GO:0030030cell projection organization ----
    GO:0042692muscle cell differentiation TAS--

    BOC 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 BOC



    (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 BOC gene: 
    NM_033254.2  

    Unigene Cluster for BOC:

    BOC cell adhesion associated, oncogene regulated
    Hs.591318  [show with all ESTs]
    Unigene Representative Sequence: NM_033254
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000464546 ENST00000495514(uc003dzx.3) ENST00000498710 ENST00000485230(uc003dzw.1 uc003eaa.1)
    ENST00000462425 ENST00000273395 ENST00000494687 ENST00000471963(uc010hqi.3)
    ENST00000484034 ENST00000477178 ENST00000466059(uc003eab.3) ENST00000479182
    ENST00000497495 ENST00000463971 ENST00000488486 ENST00000473008 ENST00000355385(uc003dzy.3 uc003dzz.3 uc003eac.3)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat BOC using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BOC (see all 10):
    hsa-miR-519c-3p hsa-miR-519a hsa-miR-410 hsa-miR-519b-3p hsa-miR-4314 hsa-miR-338-5p hsa-miR-466 hsa-miR-130b*
    SwitchGear 3'UTR luciferase reporter plasmidBOC 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for BOC
    Predesigned siRNA for gene silencing in human, mouse, rat BOC
    Clone
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    OriGene clones in human, mouse for BOC (see all 6)
    OriGene ORF clones in mouse, rat for BOC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: BOC (NM_033254)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BOC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BOC
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for BOC
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BOC
      QuantiTect SYBR Green Assays in human, mouse, rat BOC
      QuantiFast Probe-based Assays in human, mouse, rat BOC

    Additional mRNA sequence: 

    AK056359.1 AK309055.1 AL133599.1 AY027658.1 AY358328.1 BC032071.1 BC034614.1 BC075829.1 
    BC136390.1 

    18 DOTS entries:

    DT.432861  DT.95241239  DT.86821334  DT.120854395  DT.95356243  DT.95188668  DT.453380  DT.95356242 
    DT.120854375  DT.65288168  DT.97824436  DT.100027217  DT.120854365  DT.100785739  DT.65288545  DT.87046331 
    DT.99935939  DT.120854351 

    Selected AceView cDNA sequences (see all 33):

    AI382808 AI333754 BQ009631 BX109910 AK056359 BC034614 BE674430 BU848962 
    BE644731 R48752 BU556830 CA445904 BG681148 AI870233 BU844759 BF512920 
    AW024895 BU855677 CD243453 BE670724 BU623424 AI571379 BF447871 W81290 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for BOC (see all 17)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d · 8e · 8f · 8g ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a ·
    SP1:                    -     -     -     -     -     -           -                                                     -     -                 -           -   
    SP2:                                                              -                                                     -     -                 -           -   
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:              -     -     -     -     -     -     -           -                                                                                             

    ExUns: 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b
    SP1:                                      -           -                                                         
    SP2:                                      -           -                                                         
    SP3:                                      -           -                                                         
    SP4:                                      -           -                                                         
    SP5:                                                                                                            


    ECgene alternative splicing isoforms for BOC

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


    BOC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 6 entries
             Metencephalon
             Floor plate-like cells
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Adipose (Muscoskeletal System)
             Visceral White Adipose
     
     Neural Ectoderm (Nervous System)
             Neural ectoderm cells
    BOC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BOC Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591318

    UniProtKB/Swiss-Prot: BOC_HUMAN, Q9BWV1
    Tissue specificity: Detected in skeletal muscle, heart, thymus, kidney and small intestine. Detected at lower
    levels in brain, placenta, lung and colon mucosa

        Pathway & Disease-focused RT2 Profiler PCR Array including BOC: 
              Hedgehog Signaling Pathway in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BOC

    (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 BOC gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Boc1 , 5 biregional cell adhesion molecule-related/down-regulated by oncogenes (Cdon) binding protein less1, 5 84.52(n)1
    86.99(a)1
      16 (28.81 cM)5
    1176061  NM_172506.21  NP_766094.11 
     444850495 
    chicken
    (Gallus gallus)
    Aves BOC1 Boc homolog (mouse) 73.05(n)
    74.52(a)
      418361  XM_004938216.1  XP_004938273.1 
    lizard
    (Anolis carolinensis)
    Reptilia BOC6
    BOC cell adhesion associated, oncogene regulated
    69(a)
    1 ↔ 1
    3(176111564-176188967)
    African clawed frog
    (Xenopus laevis)
    Amphibia AF388036.12   -- 78.91(n)    AF388036.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AF461120.12   -- 75.45(n)    AF461120.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ihog6
    boi6
    brother of ihog
    23(a)
    19(a)
    many ↔ many
    many ↔ many
    2L(6945464-6948808)
    X(2338200-2364036)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BOC gene
    CDON2  
    1 SIMAP similar gene for BOC using alignment to 8 protein entries:     BOC_HUMAN (see all proteins):
    CDON

    BOC 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 BOC (see all 1629)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0355034
    A breast cancer sample4--see VAR_0355032 V M mis40--------
    rs130705731,2
    C--112929574(+) GGTGGG/AGCCCA 1 -- us2k17Minor allele frequency- A:0.15NA CSA WA EA 366
    rs43641411,2
    C,F--112929617(+) CTGCTA/GCAGAT 1 -- us2k111Minor allele frequency- G:0.09NA WA CSA EA 373
    rs76418801,2
    C,F,A--112929621(+) TGCAGA/CTCAAG 1 -- us2k18Minor allele frequency- C:0.44WA NA CSA EA 368
    rs76420611,2
    C,F,A--112929748(+) CCCCAG/ACCCCA 1 -- us2k110Minor allele frequency- A:0.10NA WA CSA EA 371
    rs765383381,2
    F--112929831(+) TGGACG/CACGCG 1 -- us2k12Minor allele frequency- C:0.13NA EA 240
    rs676686491,2
    C,F--112929836(+) GACGCG/AGCAAA 1 -- us2k15Minor allele frequency- A:0.13NA EA 246
    rs76226011,2
    C,F,H--112929929(+) CCGCTG/ATCCCA 1 -- us2k112Minor allele frequency- A:0.08NS NA WA 1706
    rs1817157571,2
    --112929976(+) AGTTTA/GTCTTG 1 -- us2k10--------
    rs1382086661,2
    --112929986(+) GCAGAA/GGAAGA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for BOC (112929850 - 113006306 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for BOC:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv5231n71CNV Gain21882294
    nsv829677CNV Gain17160897
    nsv877348CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BOC
    DNA2.0 Custom Variant and Variant Library Synthesis for BOC

    (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: 608708    OMIM disorders: --

    17 diseases for BOC:    
    About MalaCards
    epiglottitis    hereditary breast ovarian cancer    diphtheria    dental caries
    tetanus    rhabdomyosarcoma    pertussis    ovarian cancer
    breast and colorectal cancer    hepatitis c    retinitis    hepatitis
    colorectal cancer    prostate cancer    cerebritis    neuronitis
    prostatitis

    1 disease from the University of Copenhagen DISEASES database for BOC:
    Hepatitis C

    BOC for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: BOC (1 document)

    Export disorders for BOC 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 BOC gene, integrated from 10 sources (see all 21):
    (articles sorted by number of sources associating them with BOC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. BOC, an Ig superfamily member, associates with CDO to positively regulate myogenic differentiation. (PubMed id 11782431)1, 2, 3 Kang J.-S.... Krauss R.S. (EMBO J. 2002)
    2. Promyogenic members of the Ig and cadherin families associate to positively regulate differentiation. (PubMed id 12634428)1, 2, 9 Kang J.-S.... Krauss R.S. (Proc. Natl. Acad. Sci. U.S.A. 2003)
    3. All mammalian Hedgehog proteins interact with cell adhesion molecule, down-regulated by oncogenes (CDO) and brother of CDO (BOC) in a conserved manner. (PubMed id 20519495)1, 2 Kavran J.M....Leahy D.J. (J. Biol. Chem. 2010)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    6. Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. (PubMed id 23535732)1 Eeles R.A....Easton D.F. (Nat. Genet. 2013)
    7. Genome-wide association scan of dental caries in the permanent dentition. (PubMed id 23259602)1 Wang X....Marazita M.L. (BMC Oral Health 2012)
    8. A three-stage genome-wide association study of general cognitive ability: hunting the small effects. (PubMed id 20306291)1 Davis O.S....Plomin R. (Behav. Genet. 2010)
    9. Segregation of ipsilateral retinal ganglion cell axons at the optic chiasm requires the Shh receptor Boc. (PubMed id 20053908)1 Fabre P.J....Charron F. (J. Neurosci. 2010)
    10. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (Science 2006)

    (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: 91653 HGNC: 17173 AceView: BOC Ensembl:ENSG00000144857 euGenes: HUgn91653
    ECgene: BOC H-InvDB: BOC

    (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 BOC 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 BOC gene:
    Search GeneIP for patents involving BOC

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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