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 2... See more...

Aliases for BOC Gene

Aliases for BOC Gene

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

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 Holoprosencephaly and Chromosome 10Q23 Deletion Syndrome. Among its related pathways are Signaling by GPCR and Signaling by Hedgehog. An important paralog of this gene is CDON.

UniProtKB/Swiss-Prot Summary 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

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BOC Gene

Genomics for BOC Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BOC Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J113210 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 256.4 +1.4 1351 4.8 EZH2 POLR2A ZIC2 ZBTB10 ZNF341 KLF7 SIN3A ZNF513 KLF9 YY1 BOC HSALNG0028085 HSALNG0028086 LINC02044 ZDHHC23 CFAP44
GH03J113209 Enhancer 0.2 Ensembl 255.6 -1.7 -1702 0.2 BOC HSALNG0028085 lnc-BOC-1 NEPRO
GH03J113742 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.7 +535.3 535293 8.5 BCLAF1 SP1 ZNF207 ZNF654 ZNF600 MYC IKZF1 SSRP1 ZNF580 ZNF592 ATP6V1A ENSG00000242659 NAA50 lnc-USF3-3 NEPRO SPICE1 ENSG00000240751 CFAP44 BOC QTRT2
GH03J112559 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 12.7 -649.6 -649602 4.8 ZNF207 ZNF600 MYC SSRP1 ZNF580 KLF9 POLR2A CEBPA ATF3 BRCA1 SLC35A5 ATG3 HSALNG0028050 lnc-CCDC80-3 NEPRO CFAP44 SPICE1 ENSG00000240751 BOC CCDC80
GH03J112615 Enhancer 1 Ensembl ENCODE dbSUPER 12.7 -594.8 -594802 2 ZNF592 YY1 NFE2 RELA IRF9 DIDO1 CAVIN1 RFX1 HDAC8 PYGO2 NEPRO SPICE1 ENSG00000240751 CFAP44 BOC CCDC80 SLC35A5 lnc-CCDC80-5 ATG3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BOC on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BOC

Top Transcription factor binding sites by QIAGEN in the BOC gene promoter:
  • C/EBPalpha
  • CHOP-10
  • FOXO4
  • MyoD
  • Nkx6-1
  • p53
  • POU3F2
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for BOC Gene

Latest Assembly
chr3:113,211,003-113,287,463
(GRCh38/hg38)
Size:
76,461 bases
Orientation:
Plus strand

Previous Assembly
chr3:112,930,404-113,006,306
(GRCh37/hg19 by Entrez Gene)
Size:
75,903 bases
Orientation:
Plus strand

chr3:112,929,850-113,006,303
(GRCh37/hg19 by Ensembl)
Size:
76,454 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.
    SequenceCaution:
    • Sequence=BAC11057.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • The C-terminal cytoplasmic domain is not required for the stimulation of myogenesis.
    • [Isoform 2]: Incomplete sequence.

    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 Asn65, Asn76, Asn275, Asn98, Asn189, Asn517, Asn725, 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

Protein Domains for BOC Gene

InterPro:
Blocks:
  • Immunoglobulin C-2 type
  • N-6 Adenine-specific DNA methylase

Suggested Antigen Peptide Sequences for BOC Gene

GenScript: Design optimal peptide antigens:
  • Brother of CDO (BOC_HUMAN)
  • cDNA FLJ31797 fis, clone NT2RI2008942, weakly similar to NEURAL CELL ADHESION MOLECULE L1 (Q96DN7_HUMAN)
genes like me logo Genes that share domains with BOC: view

No data available for Graphical View of Domain Structure and 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:
  • Boc Boc<tm1Rsk>
  • Boc Boc<tm2Rsk>
  • Boc Boc<tm1Aok>
  • Boc Boc<tm1b(KOMP)Wtsi>

Animal Models for research

  • Taconic Biosciences Mouse Models for BOC

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BOC

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 5
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Nuclear bodies (1)
  • Nucleoplasm (1)
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

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

No data available for SIGNOR curated interactions for BOC Gene

Drugs & Compounds for BOC Gene

No Compound Related Data Available

Transcripts for BOC Gene

mRNA/cDNA for BOC Gene

19 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BOC

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

Expression for BOC Gene

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



Protein tissue co-expression partners for BOC Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 for research

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 29 30
  • 97.5 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia BOC 29 30
  • 88.51 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BOC 29 30
  • 86.92 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Boc 29 16 30
  • 84.52 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Boc 29
  • 84.46 (n)
Oppossum
(Monodelphis domestica)
Mammalia BOC 30
  • 79 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia BOC 30
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves BOC 29 30
  • 73.05 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BOC 30
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia boc 29
  • 69.05 (n)
Zebrafish
(Danio rerio)
Actinopterygii boc 29 30
  • 63.54 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta ihog 30
  • 23 (a)
ManyToMany
boi 30
  • 19 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 35 (a)
ManyToMany
-- 30
  • 31 (a)
ManyToMany
Species where no ortholog for BOC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for BOC: view image
Alliance of Genome Resources:
Additional Orthologs for BOC

Paralogs for BOC Gene

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

  • BOC_HUMAN
  • C9J2L7_HUMAN
  • C9J7V2_HUMAN
  • C9J9M5_HUMAN
  • C9JZ38_HUMAN
  • H7C4U8_HUMAN
  • H7C5J2_HUMAN
  • Q96DN7_HUMAN
genes like me logo Genes that share paralogs with BOC: view

Variants for BOC Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BOC Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs141324680 Benign: not provided 113,283,568(+) C/T
NM_001301861.2(BOC):c.2592C>T (p.Gly864=)
SYNONYMOUS
rs146445958 Benign: not provided 113,281,113(+) G/A
NM_001301861.2(BOC):c.2394G>A (p.Gly798=)
SYNONYMOUS
rs150200848 Benign: not provided 113,283,462(+) C/G
NM_001301861.2(BOC):c.2486C>G (p.Pro829Arg)
MISSENSE
rs1553745274 Uncertain Significance: Holoprosencephaly sequence 113,278,222(+) G/A
NM_033254.4(BOC):c.1667G>A (p.Gly556Glu)
MISSENSE
rs16860782 Benign: not provided 113,279,945(+) A/G
NM_001301861.2(BOC):c.2145A>G (p.Ala715=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BOC Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for BOC Gene

Human Gene Mutation Database (HGMD)
BOC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BOC
Leiden Open Variation Database (LOVD)
BOC

SNP Genotyping and Copy Number Assays for research

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

Disorders for BOC Gene

MalaCards: The human disease database

(4) MalaCards diseases for BOC Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards
Search BOC in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BOC

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  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
  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
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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

Products for BOC Gene

Sources for BOC Gene