PRRX2: Paired Related Homeobox 2 Gene
A key regulator of mesenchymal development and craniofacial morphogenesis
Gene Information Card
| Symbol | PRRX2 |
|---|---|
| Full Name | Paired Related Homeobox 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 9q34.11 |
| NCBI Gene ID | 51450 ncbi.nlm.nih.gov/gene/51450 |
| Ensembl ID | ENSG00000107175 |
| UniProt ID | Q99811 |
| OMIM ID | 604675 |
| HGNC ID | 9143 |
| Aliases | PRX2, PMX2, PHOX2, PRRX2A, PRRX2B |
Description
PRRX2 (Paired Related Homeobox 2) encodes a member of the paired-related homeobox family of transcription factors. This protein plays a critical role in mesenchymal cell differentiation and craniofacial development. PRRX2 is involved in the regulation of cell proliferation and migration during embryogenesis, particularly in the formation of the mandibular arch and limb mesenchyme. It functions as a transcriptional activator or repressor depending on the cellular context and interacting partners.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Craniofacial anomalies | PRRX2 mutations disrupt mesenchymal patterning during embryonic development, leading to malformations of the mandible and facial bones. | OMIM #604675; PMID: 10677325 |
| Orofacial clefting | Loss-of-function variants in PRRX2 are associated with non-syndromic cleft lip with or without cleft palate. | ClinVar; PMID: 23541342 |
| Skeletal dysplasia | PRRX2 dysregulation affects chondrogenesis and osteogenesis, contributing to abnormal bone formation. | NCBI Gene; PMID: 12032722 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Bone marrow | 8.3 | Low |
| Lung | 6.1 | Low |
| Spleen | 5.4 | Low |
| Testis | 4.8 | Low |
| Adipose tissue | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 2.1 | Low expression |
| K562 | 1.5 | Very low expression |
| HUVEC | 0.8 | Not detected |
| MCF7 | 3.0 | Low expression |
| HEK293 | 1.2 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.404G>A (p.Arg135Gln) | Missense | <0.01% | Altered DNA-binding affinity; associated with craniofacial defects |
| c.523C>T (p.Arg175Ter) | Nonsense | <0.01% | Premature truncation; loss of function |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of translation initiation; complete loss of function |
| c.688_689del (p.Leu230fs) | Frameshift | <0.01% | Frameshift leading to premature stop; loss of function |
Mutation functional classification
Loss of Function (LOF)
PRRX2 loss-of-function mutations (nonsense, frameshift, start loss) impair transcriptional activity, leading to haploinsufficiency and craniofacial developmental defects.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in PRRX2.
Dominant Negative (DN)
Missense mutations in the homeodomain (e.g., p.Arg135Gln) may act in a dominant-negative manner by interfering with wild-type PRRX2 DNA binding.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Developmental Biology (Reactome: R-HSA-1266738)
• Transcriptional regulation by homeobox proteins (Reactome: R-HSA-5617472)
• Craniofacial development (KEGG: hsa05200)
Protein Summary
The PRRX2 protein (UniProt Q99811) is a 246-amino acid transcription factor containing a paired-type homeodomain. It localizes to the nucleus and binds specific DNA sequences to regulate gene expression. PRRX2 is essential for mesenchymal cell fate determination and craniofacial morphogenesis. The protein interacts with other transcription factors and co-regulators to modulate target gene activity during embryonic development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRRX2 Knockout HEK293 Cell Line | EDJ-KQ51317 | Human | 51450 | Details Get a Quote |
| PRRX2 Knockout HeLa Cell Line | EDJ-KQ56313 | Human | 51450 | Details Get a Quote |
| PRRX2 Knockout A-549 Cell Line | EDJ-KQ64802 | Human | 51450 | Details Get a Quote |
| PRRX2 Knockout HCT 116 Cell Line | EDJ-KQ73245 | Human | 51450 | Details Get a Quote |
