BOC (BOC Cell Adhesion Associated, Oncogene Regulated)
BOC: A key regulator in cell adhesion, myogenesis, and hedgehog signaling with implications in cancer and developmental disorders.
Gene Information Card
| Symbol | BOC |
|---|---|
| Full Name | BOC cell adhesion associated, oncogene regulated |
| Gene Type | protein-coding |
| Chromosomal Location | 3q13.2 |
| NCBI Gene ID | 91653 ncbi.nlm.nih.gov/gene/91653 |
| Ensembl ID | ENSG00000144857 |
| UniProt ID | Q9BWV1 |
| OMIM ID | 608708 |
| HGNC ID | 10973 |
| Aliases | CDON2, FLJ20273, MGC138499 |
Description
BOC (Brother of CDO) is a transmembrane protein belonging to the immunoglobulin/fibronectin type III repeat family. It functions as a coreceptor for hedgehog signaling and plays critical roles in cell adhesion, myogenic differentiation, and neural tube development. BOC is also implicated in oncogenic processes, particularly in medulloblastoma and rhabdomyosarcoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Medulloblastoma | BOC acts as a coreceptor for Sonic hedgehog (Shh) signaling; aberrant activation promotes tumor growth. | PMID: 15619630, COSMIC |
| Rhabdomyosarcoma | BOC overexpression enhances hedgehog pathway activity, driving myogenic precursor cell transformation. | PMID: 19268528, COSMIC |
| Holoprosencephaly | BOC mutations disrupt hedgehog signaling, impairing forebrain development. | PMID: 21280147, ClinVar |
| Colorectal cancer | BOC expression is upregulated and associated with poor prognosis; promotes cell migration via hedgehog signaling. | PMID: 25944712, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Muscle | 8.3 | Low |
| Lung | 6.1 | Low |
| Heart | 4.7 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| A549 (lung carcinoma) | 7.8 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 2.1 | Low expression |
| MCF7 (breast carcinoma) | 1.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; associated with holoprosencephaly |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function; reported in developmental disorders |
| c.890A>G (p.Tyr297Cys) | Missense | <0.01% | Unknown significance; hedgehog signaling impairment suspected |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) lead to truncated protein, disrupting hedgehog coreceptor function and cell adhesion.
Gain of Function (GOF)
Not well characterized; overexpression in medulloblastoma and rhabdomyosarcoma suggests potential oncogenic gain-of-function via enhanced Shh signaling.
Dominant Negative (DN)
No dominant-negative mutations reported in BOC.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Hedgehog signaling pathway (Reactome: R-HSA-5358351)
• Cell adhesion molecules (CAMs) (KEGG: hsa04514)
Protein Summary
BOC is a 1,114-amino-acid transmembrane glycoprotein with five immunoglobulin-like domains and three fibronectin type III repeats in its extracellular region. It forms heterodimers with CDO and binds to Shh ligands, modulating hedgehog signal transduction. BOC also interacts with cadherins to promote cell-cell adhesion and myoblast fusion. Its expression is developmentally regulated, with highest levels in neural and muscle tissues. Dysregulation of BOC contributes to hedgehog-dependent cancers and congenital malformations.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BOC Knockout HEK293 Cell Line | EDJ-KQ882 | Human | 91653 | Details Get a Quote |
| BOC Knockout A-549 Cell Line | EDJ-KQ19709 | Human | 91653 | Details Get a Quote |
| BOC Knockout HCT 116 Cell Line | EDJ-KQ19710 | Human | 91653 | Details Get a Quote |
| BOC Knockout HeLa Cell Line | EDJ-KQ19711 | Human | 91653 | Details Get a Quote |
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