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Aliases for BOC Gene

Aliases for BOC Gene

  • BOC Cell Adhesion Associated, Oncogene Regulated 2 3 5
  • Cell Adhesion Associated, Oncogene Regulated 2 2 3
  • Brother Of CDON 2 3
  • Brother Of CDO 2 3
  • Boc Homolog (Mouse) 2
  • Boc Homolog 3
  • Protein BOC 4
  • CDON2 3

External Ids for BOC Gene

Previous GeneCards Identifiers for BOC Gene

  • GC03P109713
  • GC03P112500
  • GC03P114211
  • GC03P114251
  • GC03P114252
  • GC03P114413
  • GC03P112929
  • GC03P110306

Summaries for BOC Gene

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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]

GeneCards Summary for BOC Gene

BOC (BOC Cell Adhesion Associated, Oncogene Regulated) is a Protein Coding gene. Diseases associated with BOC include Leber Congenital Amaurosis 4. Among its related pathways are Hedgehog Pathway and Ectoderm Differentiation. An important paralog of this gene is CDON.

UniProtKB/Swiss-Prot for BOC Gene

  • 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

Additional gene information for BOC Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BOC Gene

Genomics for BOC Gene

Regulatory Elements for BOC Gene

Enhancers for BOC Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H113742 1.4 ENCODE dbSUPER 12.7 +535.3 535293 8 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 ZNF143 NEPRO SPICE1 LOC101180897 CFAP44 BOC QTRT2 USF3 ATP6V1A NAA50 ENSG00000239280
GH03H112559 1.1 ENCODE 12.7 -649.4 -649399 4 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 SLC35A5 NEPRO SPICE1 LOC101180897 CFAP44 BOC CCDC80 MIR567 C3orf52 ENSG00000279349
GH03H112615 1 ENCODE dbSUPER 12.7 -595.2 -595168 1 BACH1 ZNF175 PYGO2 ZNF644 RELA IRF9 DIDO1 NFE2 ZNF639 RFX1 NEPRO SPICE1 LOC101180897 CFAP44 BOC CCDC80 LINC01279
GH03H113146 1.7 FANTOM5 Ensembl ENCODE dbSUPER 7.3 -61.2 -61214 7 PKNOX1 INSM2 FEZF1 ZNF366 RCOR1 ZNF391 ELF1 TSHZ1 ZNF488 ZEB2 LINC02044 BOC ZDHHC23 CD200R1 ENSG00000241219
GH03H113274 1.5 FANTOM5 Ensembl ENCODE dbSUPER 7.2 +65.3 65320 3 SIX4 SOX13 CTCF PKNOX1 ESRRA ATF1 SAP130 GATA3 EED SMC3 BOC SIDT1 CFAP44 GC03M113287 GC03M113216
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BOC on UCSC Golden Path with GeneCards custom track

Promoters for BOC Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000156681 697 1801 HDGF ARNT ZSCAN4 ZNF133 ZNF76 KLF17 SIN3A ZNF2 FOS KLF7

Genomic Location for BOC Gene

Chromosome:
3
Start:
113,211,003 bp from pter
End:
113,287,463 bp from pter
Size:
76,461 bases
Orientation:
Plus strand

Genomic View for BOC Gene

Genes around BOC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BOC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BOC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BOC Gene

Proteins for BOC Gene

  • Protein details for BOC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BWV1-BOC_HUMAN
    Recommended name:
    Brother of CDO
    Protein Accession:
    Q9BWV1
    Secondary Accessions:
    • A6NJ30
    • B2RMS8
    • D3DN70
    • Q6UXJ5
    • Q8N2P7
    • Q8NF26

    Protein attributes for BOC Gene

    Size:
    1114 amino acids
    Molecular mass:
    121059 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=BAC11057.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BOC Gene

    Alternative splice isoforms for BOC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BOC Gene

Post-translational modifications for BOC Gene

  • N-glycosylated.
  • Glycosylation at posLast=6565, posLast=7676, posLast=9898, Asn189, Asn275, Asn517, posLast=725725, and Asn759
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BOC Gene

Domains & Families for BOC Gene

Gene Families for BOC Gene

Suggested Antigen Peptide Sequences for BOC Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BOC: view

No data available for UniProtKB/Swiss-Prot for BOC Gene

Function for BOC Gene

Molecular function for BOC Gene

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

Phenotypes From GWAS Catalog for BOC Gene

Gene Ontology (GO) - Molecular Function for BOC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11782431
genes like me logo Genes that share ontologies with BOC: view
genes like me logo Genes that share phenotypes with BOC: view

Animal Models for BOC Gene

MGI Knock Outs for BOC:

Animal Model Products

  • Taconic Biosciences Mouse Models for BOC

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BOC Gene

Localization for BOC Gene

Subcellular locations from UniProtKB/Swiss-Prot for BOC Gene

Cell membrane; Single-pass type I membrane protein. Note=Enriched at sites of cell-cell contact.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BOC gene
Compartment Confidence
plasma membrane 5
nucleus 3
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BOC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0044295 axonal growth cone IEA --
genes like me logo Genes that share ontologies with BOC: view

Pathways & Interactions for BOC Gene

genes like me logo Genes that share pathways with BOC: view

SIGNOR curated interactions for BOC Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for BOC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007224 smoothened signaling pathway IEA --
GO:0007411 axon guidance IEA --
GO:0045663 positive regulation of myoblast differentiation ISS --
GO:0051149 positive regulation of muscle cell differentiation TAS --
genes like me logo Genes that share ontologies with BOC: view

Drugs & Compounds for BOC Gene

No Compound Related Data Available

Transcripts for BOC Gene

Unigene Clusters for BOC Gene

BOC cell adhesion associated, oncogene regulated:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for BOC Gene

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: - - - - - - - -
SP6: - - - - - - - -
SP7: - - - - - - -
SP8: - -
SP9: - -
SP10: - - - - - - - - - - - - - - - - -
SP11: - - - - -
SP12:
SP13: -
SP14:
SP15:
SP16: - - - - - -
SP17:

ExUns: 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b
SP1: - -
SP2: - -
SP3: - -
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for BOC Gene

GeneLoc Exon Structure for
BOC
ECgene alternative splicing isoforms for
BOC

Expression for BOC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BOC Gene

mRNA differential expression in normal tissues according to GTEx for BOC Gene

This gene is overexpressed in Fallopian Tube (x4.5).

Protein differential expression in normal tissues from HIPED for BOC Gene

This gene is overexpressed in Vitreous humor (66.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for BOC Gene



Protein tissue co-expression partners for BOC Gene

NURSA nuclear receptor signaling pathways regulating expression of BOC Gene:

BOC

SOURCE GeneReport for Unigene cluster for BOC Gene:

Hs.591318

mRNA Expression by UniProt/SwissProt for BOC Gene:

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

Evidence on tissue expression from TISSUES for BOC Gene

  • Nervous system(4.6)
  • Spleen(4.1)
genes like me logo Genes that share expression patterns with BOC: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BOC Gene

Orthologs for BOC Gene

This gene was present in the common ancestor of animals.

Orthologs for BOC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BOC 33 34
  • 97.5 (n)
dog
(Canis familiaris)
Mammalia BOC 33 34
  • 88.51 (n)
cow
(Bos Taurus)
Mammalia BOC 33 34
  • 86.92 (n)
mouse
(Mus musculus)
Mammalia Boc 33 16 34
  • 84.52 (n)
rat
(Rattus norvegicus)
Mammalia Boc 33
  • 84.46 (n)
oppossum
(Monodelphis domestica)
Mammalia BOC 34
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BOC 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves BOC 33 34
  • 73.05 (n)
lizard
(Anolis carolinensis)
Reptilia BOC 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia boc 33
  • 69.05 (n)
zebrafish
(Danio rerio)
Actinopterygii boc 33 34
  • 63.54 (n)
fruit fly
(Drosophila melanogaster)
Insecta ihog 34
  • 23 (a)
ManyToMany
boi 34
  • 19 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 35 (a)
ManyToMany
-- 34
  • 31 (a)
ManyToMany
Species where no ortholog for BOC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BOC Gene

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

Paralogs for BOC Gene

Paralogs for BOC Gene

(1) SIMAP similar genes for BOC Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with BOC: view

Variants for BOC Gene

Sequence variations from dbSNP and Humsavar for BOC Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs367589886 A breast cancer sample 113,279,940(+) GGCCC(A/G)TGGCA nc-transcript-variant, reference, missense
rs1000020093 -- 113,265,632(+) AGCTC(A/C)AGCAA intron-variant
rs1000137851 -- 113,229,989(+) TTGCT(C/T)GAGGT intron-variant
rs1000153801 -- 113,220,967(+) AAGAT(G/T)GCTGT intron-variant
rs1000173671 -- 113,211,604(+) CTGGG(C/T)GCGGC intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for BOC Gene

Variant ID Type Subtype PubMed ID
nsv1013506 CNV gain 25217958
nsv591293 CNV loss 21841781
nsv829677 CNV gain 17160897

Variation tolerance for BOC Gene

Residual Variation Intolerance Score: 64% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.05; 68.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BOC Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BOC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BOC Gene

Disorders for BOC Gene

MalaCards: The human disease database

(1) MalaCards diseases for BOC Gene - From: DISEASES

Disorder Aliases PubMed IDs
leber congenital amaurosis 4
  • cone-rod dystrophy
- elite association - COSMIC cancer census association via MalaCards
Search BOC in MalaCards View complete list of genes associated with diseases

Relevant External Links for BOC

Human Genome Epidemiology (HuGE) Navigator
BOC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BOC
genes like me logo Genes that share disorders with BOC: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BOC Gene

Publications for BOC Gene

  1. Promyogenic members of the Ig and cadherin families associate to positively regulate differentiation. (PMID: 12634428) Kang JS … Krauss RS (Proceedings of the National Academy of Sciences of the United States of America 2003) 3 4 22 60
  2. BOC, an Ig superfamily member, associates with CDO to positively regulate myogenic differentiation. (PMID: 11782431) Kang JS … Krauss RS (The EMBO journal 2002) 2 3 4 60
  3. All mammalian Hedgehog proteins interact with cell adhesion molecule, down-regulated by oncogenes (CDO) and brother of CDO (BOC) in a conserved manner. (PMID: 20519495) Kavran JM … Leahy DJ (The Journal of biological chemistry 2010) 3 4 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 60

Products for BOC Gene

Sources for BOC Gene

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