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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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BOC
BOC cell adhesion associated, oncogene regulated
Chromosome 3 · 3q13.2
NCBI Gene: 91653Ensembl: ENSG00000144857.15HGNC: HGNC:17173UniProt: Q96DN7
31PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membraneprotein bindingnervous system developmentaxon guidancepolyp of colonbenign colon neoplasmanal neoplasmcolonic neoplasm
✦AI Summary

BOC (BOC cell adhesion associated, oncogene regulated) is a cell-surface receptor component that mediates cell-cell interactions and promotes myogenic differentiation. As a member of the immunoglobulin superfamily of cell adhesion molecules, BOC functions in nervous system development and axon guidance through positive regulation of myoblast differentiation and smoothened signaling pathways 1. BOC variants have emerged as causal factors in nonsyndromic orofacial clefts (NSOFCs). Exome sequencing identified four BOC variants (three missense: p.R407W, p.G436S, p.D1018N; one nonsense: p.R681X) in unrelated cleft palate cases and a multiplex family with microform cleft lip 2. These variants function as hypomorphic alleles, reducing BOC function. Notably, epistatic interactions occur wherein BOC loss-of-function variants antagonize gain-of-function GLI2 mutations within the Sonic hedgehog (SHH) pathway, demonstrating a two-locus inheritance model for NSOFC pathogenesis 2. In glioblastoma, BOC expression is regulated through post-transcriptional modification. NAT10-catalyzed N4-acetylcytidine (ac4C) modification of BOC mRNA enhances its stability and translational efficiency, promoting tumor progression 1. HIF1α-mediated transcriptional activation of NAT10 under hypoxic conditions further increases BOC mRNA modification, linking BOC to hypoxia-driven glioblastoma advancement 1. These findings establish BOC as a critical developmental gene and emerging oncogenic target.

Sources cited
1
BOC missense and nonsense variants identified as causal in nonsyndromic orofacial clefts; hypomorphic alleles; epistatic antagonism with GLI2 in SHH pathway
PMID: 40464334
2
BOC mRNA is direct target of NAT10-mediated ac4C modification; enhancement of BOC stability and translation promotes glioblastoma progression; HIF1α regulates NAT10 transcription under hypoxia
PMID: 41507133
3
Hedgehog signaling pathway context for craniofacial development and receptor function
PMID: 26875496
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
polyp of colonOpen Targets
0.41Moderate
benign colon neoplasmOpen Targets
0.41Moderate
anal neoplasmOpen Targets
0.35Weak
colonic neoplasmOpen Targets
0.35Weak
rectal neoplasmOpen Targets
0.35Weak
adolescent idiopathic scoliosisOpen Targets
0.34Weak
colorectal cancerOpen Targets
0.33Weak
intestinal diseaseOpen Targets
0.32Weak
frozen shoulderOpen Targets
0.32Weak
type 2 diabetes mellitusOpen Targets
0.30Weak
diabetes mellitusOpen Targets
0.28Weak
device complicationOpen Targets
0.27Weak
placenta praeviaOpen Targets
0.27Weak
benign neoplasmOpen Targets
0.25Weak
idiopathic dilated cardiomyopathyOpen Targets
0.24Weak
stomach polypOpen Targets
0.21Weak
holoprosencephalyOpen Targets
0.13Weak
alcohol drinkingOpen Targets
0.13Weak
corneal neovascularizationOpen Targets
0.05Suggestive
Combined hyperlipidemiaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GAS1Protein interaction96%IHHProtein interaction96%PTCH1Protein interaction96%SHHProtein interaction96%SMOProtein interaction96%PTCH2Protein interaction96%
Tissue Expression6 tissues
Ovary
100%
Heart
33%
Brain
18%
Lung
9%
Liver
2%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
BOCGAS1IHHPTCH1SHHSMOPTCH2
PROTEIN STRUCTURE
Preparing viewer…
PDB3N1M · 1.69 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.79LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.65 [0.54–0.79]
RankingsWhere BOC stands among ~20K protein-coding genes
  • #11,673of 20,598
    Most Researched31
  • #6,518of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedBOC
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.
PMID: 40464334
Adv Sci (Weinh) · 2025
1.00
2
Microenvironments Matter: Advances in Brain-on-Chip.
PMID: 37232912
Biosensors (Basel) · 2023
0.90
3
Towards establishing human body-on-a-chip systems.
PMID: 35987699
Stem Cell Res Ther · 2022
0.80
4
Bone-on-a-Chip Systems for Hematological Cancers.
PMID: 40136973
Biosensors (Basel) · 2025
0.70
5
Biosensors-on-Chip: An Up-to-Date Review.
PMID: 33353220
Molecules · 2020
0.60