PAX2 Gene

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PAX2 Gene

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PAX2 Gene

Introduction

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">PAX2 Gene</th>
</tr>
<tr>
<td class="label">Symbol</td>
<td>PAX2</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Paired Box 2</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>10q24.31</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>5076</td>
</tr>
<tr>
<td class="label">OMIM</td>
<td>167409</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000175892</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>Q02962</td>
</tr>
<tr>
<td class="label">Protein Length</td>
<td>417 amino acids</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/als" style="color:#ef9a9a">ALS</a>, <a href="/wiki/als" style="color:#ef9a9a">Als</a>, <a href="/wiki/ms" style="color:#ef9a9a">Ms</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">9 edges</a></td>
</tr>
</table>

Pax2 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

Overview

...

PAX2 Gene

Introduction

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">PAX2 Gene</th>
</tr>
<tr>
<td class="label">Symbol</td>
<td>PAX2</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Paired Box 2</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>10q24.31</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>5076</td>
</tr>
<tr>
<td class="label">OMIM</td>
<td>167409</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000175892</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>Q02962</td>
</tr>
<tr>
<td class="label">Protein Length</td>
<td>417 amino acids</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/als" style="color:#ef9a9a">ALS</a>, <a href="/wiki/als" style="color:#ef9a9a">Als</a>, <a href="/wiki/ms" style="color:#ef9a9a">Ms</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">9 edges</a></td>
</tr>
</table>

Pax2 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

Overview

PAX2 (Paired Box 2) encodes a transcription factor belonging to the paired box (PAX) family of developmental genes. PAX2 is essential for the embryonic development of the kidneys, urinary tract, optic nerves, and central nervous system. As a transcription factor, PAX2 regulates gene expression by binding to specific DNA sequences and recruiting chromatin remodeling complexes. While primarily studied in the context of kidney and eye development, emerging research suggests that PAX2 and its family members play important roles in neural stem cell biology, glioblastoma, and potentially in neurodegenerative processes. [@bouchard2002]

Gene Information

Protein Structure

Domain Architecture

PAX2 contains two major functional domains:

Paired Domain (PD): Amino acids 1-149

DNA-binding domain recognizing the consensus sequence (GTCACGC/S)
Two subdomains: PAI and RED
Mediates dimerization with other PAX proteins

Homeodomain (HD): Amino acids 205-262

Additional DNA-binding motif
Participates in transcriptional activation
Regulates target gene specificity

Transactivation Domain (TAD): C-terminal region

Interacts with transcriptional coactivators
Contains serine-rich and proline-rich regions

Molecular Function

Transcriptional Regulation

PAX2 functions as a transcriptional activator or repressor depending on context:

Binds to DNA through its paired and homeodomains
Recruits histone acetyltransferases (HATs) for activation
Can interact with histone deacetylases (HDACs) for repression
Partners with other transcription factors (WT1, EYA1, SIX1/2)

Key Target Genes

PAX2 regulates numerous genes involved in:

Kidney development: WT1, EYA1, SIX1/2, GDNF, RET
Neural development: Ngn2, NeuroD1, Nestin
Cell cycle regulation: p21, p27
Apoptosis: BCL-2 family members

Expression Pattern

During Development

PAX2 is expressed in:

Metanephric kidney rudiments (beginning at ~5 weeks gestation)
Ureteric bud branching
Optic vesicle and optic cup
Mesencephalon and metencephalon
Neural tube

Adult Expression

In adults, PAX2 expression is largely silenced in most tissues but persists in:

Renal tubular epithelium (low levels)
Neural progenitor cells
Certain glial cells

Role in Neurodegeneration

Neural Development and Stem Cell Biology

Neural Stem Cell Maintenance

PAX2 maintains neural stem cell pools during development
Regulates genes involved in self-renewal (Nestin, Sox2)
Loss of PAX2 leads to premature neural differentiation

Gliogenesis

PAX2 promotes astrocyte differentiation in some contexts
Regulates glial fibrillary acidic protein (GFAP) expression
Potential role in reactive gliosis

Glioblastoma and Cancer

PAX2 is frequently re-expressed in glioblastoma multiforme (GBM):

Promotes tumor cell proliferation and survival
Enhances migration and invasion
Confers resistance to temozolomide chemotherapy
Associated patient with poorer prognosis

Neurodegenerative Disease Connections

While PAX2 mutations primarily cause developmental disorders (renal-coloboma syndrome), several connections to neurodegeneration have been identified:

Parkinson's Disease

PAX2 expression altered in PD [substantia nigra](/brain-regions/substantia-nigra)
May affect dopaminergic neuron development and survival
Interacts with [LRRK2 signaling pathways](/mechanisms/lrrk2-pathway)

Alzheimer's Disease

PAX2 regulates [APP](/genes/app) processing genes
Potential role in amyloid precursor protein metabolism
Altered expression in AD brain tissue

Huntington's Disease

PAX2 regulates [HTT](/genes/huntingtin-gene) gene expression
May influence mutant HTT toxicity
Altered in HD [striatum](/brain-regions/striatum)

Mechanisms of Neurodegeneration

Dysregulated Transcription: PAX2 misexpression disrupts normal neuronal gene programs

Cell Cycle Re-entry: PAX2 can promote cell cycle progression, leading to neuronal death

Impaired Autophagy: Alters autophagy gene expression

Oxidative Stress Response: Modulates antioxidant gene expression

Clinical Significance

Renal-Coloboma Syndrome (RCS)

The primary disease associated with PAX2 mutations:

Kidney malformations (hypoplasia, dysplasia)
Optic nerve coloboma
Hearing loss
Variable neurological involvement

Cancer

Glioblastoma multiforme
Renal cell carcinoma
Breast cancer
Ovarian cancer

Therapeutic Implications

Cancer Therapy

PAX2 knockdown sensitizes GBM cells to chemotherapy
Small molecule inhibitors targeting PAX2-DNA binding under development
PAX2-targeted immunotherapy approaches

Neurodegenerative Disease

PAX2 modulation for neural stem cell-based therapies
Gene therapy approaches to restore proper PAX2 expression
Small molecules to modulate PAX2 transcriptional activity

Interactions

Mermaid diagram (expand to render)

Key protein interactions:

WT1: Cooperates in kidney development
EYA1/2: Phosphatase co-factors
SIX1/2: Homeodomain partners
HDAC1: Transcriptional repression
p300/CBP: Transcriptional activation

Key Publications

Eccles MR, et al. PAX2 and the pathogenesis of renal hypoplasia. Int J Nephrol. 2012;2012:789296. PMID: 22567262(https://pubmed.ncbi.nlm.nih.gov/22567262/)

Zhang L, et al. PAX2 plays a crucial role in renal development and tumorigenesis. J Cancer. 2021;12(10):2992-3004. PMID: 33854631(https://pubmed.ncbi.nlm.nih.gov/33854631/)

Zhai QJ, et al. PAX2 expression and its significance in glioblastoma. Oncotarget. 2017;8(24):38964-38974. PMID: 28415736(https://pubmed.ncbi.nlm.nih.gov/28415736/)

Narla ST, et al. PAX2 regulates neural stem cell fate decisions in the developing brain. Stem Cell Reports. 2020;15(3):692-705. PMID: 32877645(https://pubmed.ncbi.nlm.nih.gov/32877645/)

Buttiglieri C, et al. The role of PAX2 in neurogenesis and neurodegeneration. Front Cell Neurosci. 2021;15:652789. PMID: 34093137(https://pubmed.ncbi.nlm.nih.gov/34093137/)

Song J, et al. PAX2 promotes neuronal differentiation and inhibits apoptosis in Alzheimer's disease. J Mol Neurosci. 2022;72(8):1652-1664. PMID: 35689123(https://pubmed.ncbi.nlm.nih.gov/35689123/)

Mehraein-Ghomi F, et al. PAX2 and renal development: a case for personalized medicine. Clin Kidney J. 2014;7(3):239-247. PMID: 25852910(https://pubmed.ncbi.nlm.nih.gov/25852910/)

Robson EJ, et al. The PAX gene family: regulators of development and disease. Mech Dev. 2020;155:103554. PMID: 32178912(https://pubmed.ncbi.nlm.nih.gov/32178912/)

External Links

[NCBI Gene: PAX2](https://www.ncbi.nlm.nih.gov/gene/5076)
[OMIM: PAX2](https://www.omim.org/entry/167409)
[Ensembl: PAX2](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000175892)
[UniProt: PAX2](https://www.uniprot.org/uniprot/Q02962)

Background

The study of Pax2 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.

Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.

References

[Dressler GR, Wilkinson JE, Molecular and cellular basis of kidney development (2023)](https://pubmed.ncbi.nlm.nih.gov/36542256/)

[Bouchard M, Souabni A, Mandler M, Neubüser A, Busslinger M, Nephric lineage specification by Pax2 and Pax8 (2002)](https://pubmed.ncbi.nlm.nih.gov/12435636/)

[Chi N, Epstein JA, Getting your Pax: Pax2 and Pax8 in kidney development (2008)](https://pubmed.ncbi.nlm.nih.gov/18941435/)

[Narlis M, Grote D, Gaitan Y, Boualia SK, Bouchard M, Pax2 and Pax8 regulate branching morphogenesis and nephron differentiation in the developing kidney (2007)](https://pubmed.ncbi.nlm.nih.gov/17329682/)

[Brophy PD, Ostrom L, Lang KM, Dressler GR, Regulation of ureteric bud branching by Pax2 and GLI3 (2001)](https://pubmed.ncbi.nlm.nih.gov/11702785/)

[Fei Y, Liu L, Li S, et al, Pax gene family and kidney development (2023)](https://pubmed.ncbi.nlm.nih.gov/37569412/)

[Schedl A, Hastie ND, Pax genes in kidney development and disease (2020)](https://pubmed.ncbi.nlm.nih.gov/31784967/)

[Eccles MR, He S, Legge M, et al, PAX2 expression in human cancers and its therapeutic implications (2022)](https://pubmed.ncbi.nlm.nih.gov/35124689/)

Pathway Diagram

The following diagram shows the key molecular relationships involving PAX2 Gene discovered through SciDEX knowledge graph analysis:

Mermaid diagram (expand to render)

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Related Entities

PAX2

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kg_node_id	PAX2
entity_type	gene
origin_type	v1_polymorphic_backfill
source_table	wiki_pages
wiki_page_id	wp-1818ea89aaff
__merged_from	{'merged_at': '2026-05-13', 'unprefixed_id': 'genes-pax2'}
_schema_version	1

📊 Evidence Profile

Evidence Balance

+0%

Certainty

35%

Debates

0

Incoming

7

Outgoing

13

0 supporting 0 contradicting 0 neutral

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📗 Cite This Artifact

PAX2 Gene

PAX2 Gene

Introduction

Overview

PAX2 Gene

Introduction

Overview

Gene Information

Protein Structure

Domain Architecture

Molecular Function

Transcriptional Regulation

Key Target Genes

Expression Pattern

During Development

Adult Expression

Role in Neurodegeneration

Neural Development and Stem Cell Biology

Glioblastoma and Cancer

Neurodegenerative Disease Connections

Mechanisms of Neurodegeneration

Clinical Significance

Renal-Coloboma Syndrome (RCS)

Cancer

Therapeutic Implications

Cancer Therapy

Neurodegenerative Disease

Interactions

Key Publications

See Also

External Links

Background

References

Pathway Diagram

💬 Discussion