PANX3: Pannexin 3 Gene
A gap junction protein involved in skeletal development and cancer
Gene Information Card
| Symbol | PANX3 |
|---|---|
| Full Name | Pannexin 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q24.2 |
| NCBI Gene ID | 116337 ncbi.nlm.nih.gov/gene/116337 |
| Ensembl ID | ENSG00000154162 |
| UniProt ID | Q96QZ0 |
| OMIM ID | 608422 |
| HGNC ID | 20577 |
| Aliases | PANX3, pannexin-3 |
Description
PANX3 encodes pannexin 3, a member of the pannexin family of gap junction proteins. It forms hexameric channels that mediate ATP release and calcium signaling, playing a critical role in osteoblast differentiation, chondrocyte maturation, and skeletal development. PANX3 is also implicated in cancer progression and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoarthritis | Altered PANX3 expression disrupts chondrocyte ATP signaling and matrix homeostasis | PMID: 25982116 |
| Osteosarcoma | PANX3 overexpression promotes tumor growth and metastasis via ATP release | PMID: 28431213 |
| Breast cancer | PANX3 expression correlates with poor prognosis and bone metastasis | PMID: 29533785 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone | 12.5 | Medium |
| Cartilage | 8.3 | Low |
| Skin | 6.1 | Low |
| Lung | 4.2 | Not detected |
| Breast | 3.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Saos-2 (osteosarcoma) | 15.2 | High expression |
| MG-63 (osteosarcoma) | 10.1 | Moderate expression |
| MCF-7 (breast cancer) | 2.3 | Low expression |
| HEK293 (embryonic kidney) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.412C>T (p.Arg138Trp) | Missense | 0.01% | Unknown functional effect |
| c.856G>A (p.Gly286Arg) | Missense | 0.005% | Predicted damaging (SIFT) |
| c.1021_1023del (p.Phe341del) | In-frame deletion | 0.002% | Loss of channel function |
Mutation functional classification
Loss of Function (LOF)
c.1021_1023del (p.Phe341del) reduces ATP release and channel activity
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • gap junction channel activity (GO:0005243) | • alpha-type channel activity (GO:0015268) |
| • plasma membrane (GO:0005886) | • connexin complex (GO:0005922) |
| • cell differentiation (GO:0030154) | • skeletal system development (GO:0001501) |
Pathways
• Gap junction trafficking and regulation (Reactome: R-HSA-190828)
• ATP signaling via P2X receptors (Reactome: R-HSA-139853)
Protein Summary
Pannexin 3 is a 392-amino acid transmembrane protein with four alpha-helical domains. It forms hexameric channels that allow passage of ions and small molecules (e.g., ATP). The protein is glycosylated at Asn254 and localizes to the plasma membrane. It is essential for osteoblast and chondrocyte function, and its dysregulation contributes to skeletal disorders and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PANX3 Knockout HEK293 Cell Line | EDJ-KQ7563 | Human | 116337 | Details Get a Quote |
| PANX3 Knockout HeLa Cell Line | EDJ-KQ57980 | Human | 116337 | Details Get a Quote |
| PANX3 Knockout A-549 Cell Line | EDJ-KQ66469 | Human | 116337 | Details Get a Quote |
| PANX3 Knockout HCT 116 Cell Line | EDJ-KQ74890 | Human | 116337 | Details Get a Quote |
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