PAX7 Gene
Paired Box 7: A Key Regulator in Muscle Development and Stem Cell Biology
Gene Information Card
| Symbol | PAX7 |
|---|---|
| Full Name | Paired Box 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 5081 ncbi.nlm.nih.gov/gene/5081 |
| Ensembl ID | ENSG00000109738 |
| UniProt ID | P23759 |
| OMIM ID | 167410 |
| HGNC ID | 8621 |
| Aliases | HUP1, PAX7B, RMS2 |
Description
PAX7 (Paired Box 7) is a transcription factor belonging to the PAX family, characterized by a paired box DNA-binding domain. It plays a critical role in embryonic development, particularly in myogenesis (skeletal muscle formation) and the maintenance of muscle satellite cells (adult muscle stem cells). PAX7 is also involved in neural crest development and has been implicated in various cancers, most notably alveolar rhabdomyosarcoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alveolar Rhabdomyosarcoma (ARMS) | PAX7 fuses with FOXO1 (or other partners) via chromosomal translocation t(1;13)(p36;q14), generating a PAX7-FOXO1 fusion oncoprotein that drives aberrant transcription and tumorigenesis. | COSMIC; PMID: 8388781 |
| Rhabdomyosarcoma 2 (RMS2) | Germline mutations or amplifications of PAX7 are associated with increased susceptibility to rhabdomyosarcoma. | OMIM #268220 |
| Osteosarcoma | PAX7 overexpression is observed in some osteosarcoma cases, potentially contributing to tumor progression. | PMID: 21573173 |
| Melanoma | PAX7 expression is linked to melanoma cell proliferation and invasion, possibly through regulation of MITF. | PMID: 22006536 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal Muscle | 12.5 | High |
| Brain (Cerebellum) | 1.2 | Low |
| Testis | 0.8 | Low |
| Thyroid | 0.5 | Low |
| Adipose Tissue | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| RH30 (Rhabdomyosarcoma) | 15.0 | High expression; PAX7-FOXO1 fusion positive |
| RD (Rhabdomyosarcoma) | 8.2 | Moderate expression; PAX7 wild-type |
| A673 (Ewing Sarcoma) | 0.1 | Not detected |
| HEK293 (Embryonic Kidney) | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| PAX7-FOXO1 fusion | Gene fusion | Rare in general population; common in ARMS | Oncogenic; constitutive activation of PAX7 target genes |
| c.452G>A (p.Arg151His) | Missense | <0.01% (gnomAD) | Unknown; likely benign |
| c.1033C>T (p.Arg345*) | Nonsense | <0.01% (gnomAD) | Loss of function; predicted to cause nonsense-mediated decay |
Mutation functional classification
Loss of Function (LOF)
Nonsense or frameshift mutations leading to truncated protein or mRNA decay; associated with reduced satellite cell function and muscle regeneration defects.
Gain of Function (GOF)
PAX7-FOXO1 fusion acts as a gain-of-function oncoprotein, driving uncontrolled proliferation in rhabdomyosarcoma.
Dominant Negative (DN)
Not well documented; some missense mutations in the paired domain may impair DNA binding and act in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Myogenesis (WP:WP383)
• PAX7 signaling in satellite cells (WP:WP3982)
• Rhabdomyosarcoma (WP:WP3631)
Protein Summary
PAX7 is a 520-amino acid transcription factor containing a paired box domain (DNA-binding), an octapeptide motif, and a homeodomain. It is essential for the specification and self-renewal of muscle satellite cells. The protein heterodimerizes with PAX3 and interacts with co-repressors or co-activators to regulate target genes such as MYF5, MYOD1, and MYOG. In cancer, the PAX7-FOXO1 fusion protein retains the PAX7 DNA-binding domain but gains a strong transcriptional activation domain from FOXO1, leading to oncogenic transformation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PAX7 Knockout HEK293 Cell Line | EDJ-KQ2911 | Human | 5081 | Details Get a Quote |
| PAX7 Knockout HeLa Cell Line | EDJ-KQ54085 | Human | 5081 | Details Get a Quote |
| PAX7 Knockout A-549 Cell Line | EDJ-KQ62573 | Human | 5081 | Details Get a Quote |
| PAX7 Knockout HCT 116 Cell Line | EDJ-KQ71043 | Human | 5081 | Details Get a Quote |
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