Format

Send to:

Choose Destination
    • Showing Current items.

    BOC BOC cell adhesion associated, oncogene regulated [ Homo sapiens (human) ]

    Gene ID: 91653, updated on 17-Jun-2019

    Summary

    Official Symbol
    BOCprovided by HGNC
    Official Full Name
    BOC cell adhesion associated, oncogene regulatedprovided by HGNC
    Primary source
    HGNC:HGNC:17173
    See related
    Ensembl:ENSG00000144857 MIM:608708
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CDON2
    Summary
    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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]
    Expression
    Broad expression in skin (RPKM 11.2), prostate (RPKM 10.0) and 23 other tissues See more
    Orthologs

    Genomic context

    See BOC in Genome Data Viewer
    Location:
    3q13.2
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (113211003..113287463)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (112929850..113006306)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986114 Neighboring gene VISTA enhancer hs1685 Neighboring gene uncharacterized LOC102723430 Neighboring gene long intergenic non-protein coding RNA 2044 Neighboring gene cilia and flagella associated protein 44 Neighboring gene Rab geranylgeranyltransferase subunit beta pseudogene Neighboring gene PHD finger protein 5D pseudogene Neighboring gene CFAP44 antisense RNA 1 Neighboring gene microRNA 8076

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association scan of dental caries in the permanent dentition.
    NHGRI GWA Catalog
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Activation of SMO, organism-specific biosystem (from REACTOME)
      Activation of SMO, organism-specific biosystemActivation of the transmembrane protein SMO in response to Hh stimulation is a major control point in the Hh signaling pathway (reviewed in Ayers and Therond, 2010; Jiang and Hui, 2008). In the absen...
    • Axon guidance, organism-specific biosystem (from KEGG)
      Axon guidance, organism-specific biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
    • Axon guidance, conserved biosystem (from KEGG)
      Axon guidance, conserved biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
    • CDO in myogenesis, organism-specific biosystem (from REACTOME)
      CDO in myogenesis, organism-specific biosystemCDO/Cdon (cell-adhesion-molecule-related/downregulated by oncogenes) is a type I transmembrane multifunctional co-receptor consisting of five immunoglobulin and three fibronectin type III (FNIII) rep...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Ectoderm Differentiation, organism-specific biosystem (from WikiPathways)
      Ectoderm Differentiation, organism-specific biosystemModel depicting ectoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
    • Hedgehog 'on' state, organism-specific biosystem (from REACTOME)
      Hedgehog 'on' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
    • Hedgehog signaling pathway, organism-specific biosystem (from KEGG)
      Hedgehog signaling pathway, organism-specific biosystemThe Hedgehog (Hh) signaling pathway has numerous roles in the control of cell proliferation, tissue patterning, stem cell maintenance and development. The primary cilium is an important center for tr...
    • Hedgehog signaling pathway, conserved biosystem (from KEGG)
      Hedgehog signaling pathway, conserved biosystemThe Hedgehog (Hh) signaling pathway has numerous roles in the control of cell proliferation, tissue patterning, stem cell maintenance and development. The primary cilium is an important center for tr...
    • Ligand-receptor interactions, organism-specific biosystem (from REACTOME)
      Ligand-receptor interactions, organism-specific biosystemRepression of Hh signaling in the absence of ligand depends on the transmembrane receptor protein Patched (PTCH), which inhibits Smoothened (SMO) activity by an unknown mechanism. This promotes the p...
    • Myogenesis, organism-specific biosystem (from REACTOME)
      Myogenesis, organism-specific biosystemMyogenesis, the formation of muscle tissue, is a complex process involving steps of cell proliferation mediated by growth factor signaling, cell differentiation, reorganization of cells to form myotu...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Hedgehog, organism-specific biosystem (from REACTOME)
      Signaling by Hedgehog, organism-specific biosystemHedgehog (Hh) is a secreted morphogen that regulates developmental processes in vertebrates including limb bud formation, neural tube patterning, cell growth and differentiation (reviewed in Hui and ...
    • Signaling events mediated by the Hedgehog family, organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by the Hedgehog family, organism-specific biosystem
      Signaling events mediated by the Hedgehog family

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of muscle cell differentiation TAS
    Traceable Author Statement
    more info
     
    positive regulation of myoblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    axonal growth cone IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    brother of CDO
    Names
    Boc homolog
    brother of CDON
    cell adhesion associated, oncogene regulated 2

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001301861.2NP_001288790.1  brother of CDO isoform 1 precursor

      See identical proteins and their annotated locations for NP_001288790.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AA716090, AC026329, AK074556, AY027658, AY358328, BC075829, DA247804, DB349011
      Consensus CDS
      CCDS77788.1
      UniProtKB/Swiss-Prot
      Q9BWV1
      Related
      ENSP00000273395.4, ENST00000273395.8
      Conserved Domains (7) summary
      smart00408
      Location:245306
      IGc2; Immunoglobulin C-2 Type
      smart00060
      Location:486559
      FN3; Fibronectin type 3 domain
      smart00410
      Location:137212
      IG_like; Immunoglobulin like
      cd00063
      Location:607698
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:323406
      I-set; Immunoglobulin I-set domain
      pfam16625
      Location:409473
      ISET-FN3_linker; Unstructured linking region I-set and fnIII on Brother of CDO
      cl11960
      Location:143204
      Ig; Immunoglobulin domain
    2. NM_001301867.2NP_001288796.1  brother of CDO isoform 3 precursor

      See identical proteins and their annotated locations for NP_001288796.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks several exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 3 which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC026329, AK056359, BC034614, BC075829, DA721979
      Consensus CDS
      CCDS77789.1
      UniProtKB/TrEMBL
      Q96DN7
      Related
      ENSP00000420154.1, ENST00000485230.5
      Conserved Domains (1) summary
      pfam13927
      Location:36109
      Ig_3; Immunoglobulin domain
    3. NM_033254.4NP_150279.1  brother of CDO isoform 2 precursor

      See identical proteins and their annotated locations for NP_150279.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.
      Source sequence(s)
      AA716090, AK074556, AY027658, AY358328, BC075829, DA721979, DB349011
      Consensus CDS
      CCDS2971.1
      UniProtKB/Swiss-Prot
      Q9BWV1
      Related
      ENSP00000418663.1, ENST00000495514.5
      Conserved Domains (7) summary
      smart00408
      Location:245306
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:137212
      IG_like; Immunoglobulin like
      cd00063
      Location:606697
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:323406
      I-set; Immunoglobulin I-set domain
      pfam00041
      Location:486559
      fn3; Fibronectin type III domain
      pfam16625
      Location:409473
      ISET-FN3_linker; Unstructured linking region I-set and fnIII on Brother of CDO
      cl11960
      Location:143204
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      113211003..113287463
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017007446.1XP_016862935.1  brother of CDO isoform X1

    2. XM_017007448.1XP_016862937.1  brother of CDO isoform X1

    3. XM_017007451.2XP_016862940.1  brother of CDO isoform X4

      UniProtKB/Swiss-Prot
      Q9BWV1
      Conserved Domains (7) summary
      smart00408
      Location:245306
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:137212
      IG_like; Immunoglobulin like
      cd00063
      Location:606697
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:323406
      I-set; Immunoglobulin I-set domain
      pfam00041
      Location:486559
      fn3; Fibronectin type III domain
      pfam16625
      Location:409473
      ISET-FN3_linker; Unstructured linking region I-set and fnIII on Brother of CDO
      cl11960
      Location:143204
      Ig; Immunoglobulin domain
    4. XM_005247891.3XP_005247948.1  brother of CDO isoform X3

      See identical proteins and their annotated locations for XP_005247948.1

      UniProtKB/Swiss-Prot
      Q9BWV1
      Conserved Domains (7) summary
      smart00408
      Location:245306
      IGc2; Immunoglobulin C-2 Type
      smart00060
      Location:486559
      FN3; Fibronectin type 3 domain
      smart00410
      Location:137212
      IG_like; Immunoglobulin like
      cd00063
      Location:607698
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:323406
      I-set; Immunoglobulin I-set domain
      pfam16625
      Location:409473
      ISET-FN3_linker; Unstructured linking region I-set and fnIII on Brother of CDO
      cl11960
      Location:143204
      Ig; Immunoglobulin domain
    5. XM_017007454.2XP_016862943.1  brother of CDO isoform X8

      Conserved Domains (6) summary
      cd00063
      Location:431522
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam00041
      Location:310384
      fn3; Fibronectin type III domain
      pfam13927
      Location:51124
      Ig_3; Immunoglobulin domain
      pfam16625
      Location:235297
      ISET-FN3_linker; Unstructured linking region I-set and fnIII on Brother of CDO
      cl11960
      Location:125
      Ig; Immunoglobulin domain
      cl28434
      Location:144227
      I-set; Immunoglobulin I-set domain
    6. XM_017007441.2XP_016862930.1  brother of CDO isoform X1

    7. XM_017007450.2XP_016862939.1  brother of CDO isoform X2

    8. XM_011513305.3XP_011511607.1  brother of CDO isoform X4

      See identical proteins and their annotated locations for XP_011511607.1

      UniProtKB/Swiss-Prot
      Q9BWV1
      Related
      ENSP00000347546.3, ENST00000355385.7
      Conserved Domains (7) summary
      smart00408
      Location:245306
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:137212
      IG_like; Immunoglobulin like
      cd00063
      Location:606697
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:323406
      I-set; Immunoglobulin I-set domain
      pfam00041
      Location:486559
      fn3; Fibronectin type III domain
      pfam16625
      Location:409473
      ISET-FN3_linker; Unstructured linking region I-set and fnIII on Brother of CDO
      cl11960
      Location:143204
      Ig; Immunoglobulin domain
    9. XM_005247897.3XP_005247954.1  brother of CDO isoform X5

      Conserved Domains (7) summary
      smart00408
      Location:245306
      IGc2; Immunoglobulin C-2 Type
      smart00060
      Location:395468
      FN3; Fibronectin type 3 domain
      smart00410
      Location:137212
      IG_like; Immunoglobulin like
      cd00063
      Location:516607
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:36125
      I-set; Immunoglobulin I-set domain
      pfam16625
      Location:321382
      ISET-FN3_linker; Unstructured linking region I-set and fnIII on Brother of CDO
      cl11960
      Location:143204
      Ig; Immunoglobulin domain
    10. XM_017007442.2XP_016862931.1  brother of CDO isoform X1

    11. XM_005247892.3XP_005247949.1  brother of CDO isoform X3

      See identical proteins and their annotated locations for XP_005247949.1

      UniProtKB/Swiss-Prot
      Q9BWV1
      Conserved Domains (7) summary
      smart00408
      Location:245306
      IGc2; Immunoglobulin C-2 Type
      smart00060
      Location:486559
      FN3; Fibronectin type 3 domain
      smart00410
      Location:137212
      IG_like; Immunoglobulin like
      cd00063
      Location:607698
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:323406
      I-set; Immunoglobulin I-set domain
      pfam16625
      Location:409473
      ISET-FN3_linker; Unstructured linking region I-set and fnIII on Brother of CDO
      cl11960
      Location:143204
      Ig; Immunoglobulin domain
    12. XM_024453818.1XP_024309586.1  brother of CDO isoform X7

      Conserved Domains (6) summary
      cd00063
      Location:610701
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam00041
      Location:489563
      fn3; Fibronectin type III domain
      pfam13927
      Location:230303
      Ig_3; Immunoglobulin domain
      pfam16625
      Location:414476
      ISET-FN3_linker; Unstructured linking region I-set and fnIII on Brother of CDO
      cl11960
      Location:143204
      Ig; Immunoglobulin domain
      cl28434
      Location:323406
      I-set; Immunoglobulin I-set domain
    13. XM_017007443.1XP_016862932.1  brother of CDO isoform X1

    14. XM_017007445.1XP_016862934.1  brother of CDO isoform X1

    15. XM_017007447.1XP_016862936.1  brother of CDO isoform X1

    16. XM_017007452.1XP_016862941.1  brother of CDO isoform X6

    17. XM_017007453.1XP_016862942.1  brother of CDO isoform X6

    18. XM_017007449.1XP_016862938.1  brother of CDO isoform X1

    19. XM_017007455.1XP_016862944.1  brother of CDO isoform X9

      UniProtKB/TrEMBL
      Q96DN7
      Related
      ENSP00000417337.1, ENST00000484034.1
      Conserved Domains (1) summary
      pfam13927
      Location:36109
      Ig_3; Immunoglobulin domain
    20. XM_017007444.1XP_016862933.1  brother of CDO isoform X1

    21. XM_024453819.1XP_024309587.1  brother of CDO isoform X8

      Conserved Domains (6) summary
      cd00063
      Location:431522
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam00041
      Location:310384
      fn3; Fibronectin type III domain
      pfam13927
      Location:51124
      Ig_3; Immunoglobulin domain
      pfam16625
      Location:235297
      ISET-FN3_linker; Unstructured linking region I-set and fnIII on Brother of CDO
      cl11960
      Location:125
      Ig; Immunoglobulin domain
      cl28434
      Location:144227
      I-set; Immunoglobulin I-set domain

    RNA

    1. XR_001740359.2 RNA Sequence

    Support Center