PAX2 Gene: Paired Box 2 Transcription Factor
Key regulator of kidney, eye, and ear development; associated with renal coloboma syndrome and Wilms tumor
Gene Information Card
| Symbol | PAX2 |
|---|---|
| Full Name | Paired box 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q24.31 |
| NCBI Gene ID | 5076 ncbi.nlm.nih.gov/gene/5076 |
| Ensembl ID | ENSG00000175899 |
| UniProt ID | Q02962 |
| OMIM ID | 167409 |
| HGNC ID | 8616 |
| Aliases | FSGS7, PAPB, PAX2A, PAX2B |
Description
PAX2 encodes a paired-box homeodomain transcription factor essential for the development of the kidney, ureter, eye, ear, and central nervous system. It regulates cell proliferation, differentiation, and apoptosis during embryogenesis. Mutations in PAX2 cause renal coloboma syndrome (papillorenal syndrome) and are associated with Wilms tumor and focal segmental glomerulosclerosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Renal coloboma syndrome (papillorenal syndrome) | Loss-of-function mutations disrupt PAX2 DNA binding, impairing kidney and optic nerve development | OMIM #120330; ClinVar |
| Wilms tumor (nephroblastoma) | PAX2 overexpression promotes cell survival and proliferation in renal progenitor cells; somatic mutations and copy number gains observed | COSMIC; PMID: 10646866 |
| Focal segmental glomerulosclerosis 7 (FSGS7) | Missense variants in PAX2 alter transcriptional activity, leading to podocyte dysfunction | OMIM #616002; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Eye (retina) | 8.3 | Medium |
| Inner ear (cochlea) | 6.1 | Medium |
| Brain (cerebellum) | 4.2 | Low |
| Testis | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 (embryonic kidney) | 15.2 | High expression; used in functional studies |
| A-549 (lung carcinoma) | 2.1 | Low expression |
| MCF7 (breast cancer) | 1.5 | Low expression |
| K562 (leukemia) | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.76dupG (p.Val26Glyfs*28) | Frameshift | Pathogenic; common in renal coloboma syndrome | Loss of function |
| c.70C>T (p.Arg24Trp) | Missense | Pathogenic; disrupts DNA binding | Loss of function |
| c.418C>T (p.Arg140*) | Nonsense | Pathogenic; premature truncation | Loss of function |
| c.452G>A (p.Arg151His) | Missense | Likely pathogenic; altered transactivation | Dominant negative |
Mutation functional classification
Loss of Function (LOF)
Frameshift, nonsense, and missense mutations that impair DNA binding or nuclear localization, leading to haploinsufficiency in renal coloboma syndrome.
Gain of Function (GOF)
Not well documented; PAX2 overexpression in Wilms tumor may act as an oncogenic gain-of-function through increased cell survival signaling.
Dominant Negative (DN)
Missense variants (e.g., p.Arg151His) that retain DNA binding but fail to activate transcription, interfering with wild-type PAX2 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• PAX2 in kidney development (KEGG: hsa05219 – Bladder cancer; indirect)
• Wnt signaling pathway (PAX2 is a downstream target of Wnt/β-catenin)
• Retinoic acid signaling (PAX2 expression regulated by retinoic acid during nephrogenesis)
• p53 pathway (PAX2 represses p53-mediated apoptosis in kidney progenitors)
Protein Summary
PAX2 is a 417-amino acid transcription factor containing a paired box DNA-binding domain and a partial homeodomain. It binds to specific DNA sequences to activate or repress target genes involved in cell proliferation, migration, and differentiation. During development, PAX2 is critical for the formation of the nephric duct, ureteric bud, optic stalk, and otic vesicle. In adults, PAX2 is expressed at low levels in kidney and eye tissues. Aberrant PAX2 expression is linked to Wilms tumor and other cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PAX2 Knockout HEK293 Cell Line | EDJ-KQ2242 | Human | 5076 | Details Get a Quote |
| PAX2 Knockout HCT 116 Cell Line | EDJ-KQ22536 | Human | 5076 | Details Get a Quote |
| PAX2 Knockout HeLa Cell Line | EDJ-KQ54081 | Human | 5076 | Details Get a Quote |
| PAX2 Knockout A-549 Cell Line | EDJ-KQ62569 | Human | 5076 | Details Get a Quote |
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