PAX2Gene Detail-Gene Database-Genelibs

PAX2 (paired box 2)

symbol

PAX2

locus group

protein-coding gene

location

10q24.31

gene_family

PRD class homeoboxes and pseudogenes|Paired boxes

alias symbol

PAX-2

alias name

None

entrez id

5076

ensembl gene id

ENSG00000075891

ucsc gene id

uc001kro.4

refseq accession

NM_000278

hgnc_id

HGNC:8616

approved reserved

1993-06-07

10q24.31

ChineseEnglish

PAX2（Paired Box 2）基因属于PAX基因家族，该家族由9个成员（PAX1-PAX9）组成，编码的蛋白质均含有保守的配对盒（paired box）DNA结合结构域，部分成员还包含八聚体结构域或同源结构域。PAX家族基因在胚胎发育中起关键调控作用，尤其在组织器官的形成和细胞命运决定中发挥重要作用。PAX2基因位于人类10号染色体（10q24.31），编码的转录因子在泌尿系统、中枢神经系统、眼睛和耳朵的发育过程中至关重要。它通过调控下游靶基因的表达，参与肾小管形成、视神经发育以及中耳和内耳结构的构建。PAX2蛋白在肾脏中促进间充质向上皮细胞的转化，对肾单位的正常发育不可或缺。PAX2突变可导致多种疾病，最常见的包括肾-视神经综合征（Papillorenal综合征），表现为肾脏发育异常（如肾缺如或多囊肾）和视神经发育缺陷（如视盘异常）。此外，PAX2突变还与局灶节段性肾小球硬化（FSGS）和先天性听力损失相关。某些癌症（如肾细胞癌和卵巢癌）中可观察到PAX2的异常表达，可能与肿瘤发生有关。PAX2表达水平的变化对机体影响显著：过表达可能导致细胞增殖异常，促进肿瘤发生，尤其在肾脏和生殖系统中；而表达降低或缺失则会导致严重的发育缺陷，如肾脏发育不全、视力障碍或听力损失。在基因调控网络中，PAX2与WT1、GDNF等基因相互作用，共同调控泌尿系统的发育。PAX2的表达受多个信号通路（如WNT和FGF）的调节，同时它自身也调控下游靶基因（如EYA1和SIX1）的表达。在PAX基因家族中，各成员虽功能各异，但均通过配对盒结构域结合DNA，参与胚胎发育和细胞分化，其中PAX2、PAX5和PAX8在器官形成中作用尤为突出。研究PAX2不仅有助于理解发育生物学机制，也为相关遗传病和癌症的治疗提供潜在靶点。

PAX2配对进行编码的基因盒2，果蝇基因珠三角的许多人类同源之一。这个转录因子基因家族的核心特点是保守的DNA结合配对盒结构域。 PAX2的被认为是通过肿瘤抑制基因WT1是转录supression的一个目标。 PAX2内突变已显示导致视神经colobomas和肾发育不全。这个基因的选择性剪接的结果在多个转录变体。 [由RefSeq的，2014年12月提供]

PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central feature of this transcription factor gene family is the conserved DNA-binding paired box domain. PAX2 is believed to be a target of transcriptional supression by the tumor suppressor gene WT1. Mutations within PAX2 have been shown to result in optic nerve colobomas and renal hypoplasia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]

OMIM entry for PAX2 Wikipedia entry for PAX2

Nucleotide sequence of PAX2:[NCBI]

Loading Gene Browser...

Protein Sequence

1MDMHCKADPF SAMHPGHGGV NQLGGVFVNG RPLPDVVRQR
41IVELAHQGVR PCDISRQLRV SHGCVSKILG RYYETGSIKP
81
GVIGGSKPK VATPKVVDKI AEYKRQNPTM FAWEIRDRLL
121AEGICDNDTV PSVSSINRII RTKVQQPFHP TPDGAGTGVT
161A
PGHTIVPS TASPPVSSAS NDPVGSYSIN GILGIPRSNG
201EKRKRDEVEV YTDPAHIRGG GGLHLVWTLR DVSEGSVPNG
241DS
QSGVDSL RKHLRADTFT QQQLEALDRV FERPSYPDVF
281QASEHIKSEQ GNEYSLPALT PGLDEVKSSL SASTNPELGS
321NVS
GTQTYP VVTGRDMAST TLPGYPPHVP PTGQGSYPTS
361TLAGMVPGSE FSGNPYSHPQ YTAYNEAWRF SNPALLSSPY
401YYSA
APRGS APAAAAAAYD RH

Structure predicted by AlphaFold DB(UniProt: Q02962). Color indicates pLDDT confidence (dark blue = high, yellow/orange = low).

SNP variants of PAX2: Showing partial SNPs

rs876670 rs876671 rs927638 rs998799 rs1006544 rs1006545 rs1800897 rs1800898 rs1812930 rs1969816 rs2077642 rs2270185 rs2296220 rs2495762 rs2863044 rs2863046 rs2863047

Tissue expression of PAX2: [UniProt]

Forward Primer

Forward Tm

Reverse Primer

Reverse Tm

Score

GATGCACCGTTGTCAAGAC

GACTTCGATTTCTTCTCGGAG

GAGGTATACACTGATCCTGCC

GAGCCCTCAGACACATCTC

AAGTTGAGTTTGAGAGGCGA

TTTGGTCCGGATGATTGGT

GATCCTACTCCATCAATGGGA

CCTCAGACACATCTTCATCAC

GATCCTACTCCATCAATGGGA

CCTCAGACACATCTTCATCAC

CAGAACCCGACTATGTTCG

TTTGGTCCGGATGATTCTG

GATCCTACTCCATCAATGGGA

TGTATACCTCAACTTCATCACG

GATCCTACTCCATCAATGGGA

CCTCAGACACATCTTCATCAC

GATCCTACTCCATCAATGGGA

CCTCAGACACATCTTCATCAC

CGCTCCAATGATGTGTCTG

GATCCAAAGCTTCCAGCTG

Transcription Factors

Target Gene

Interaction Type

PubMed References

PAX2

ADAM10

Unknown

21876729; 21880579

PAX2

ERBB2

Unknown

10991938

PAX2

L1CAM

Unknown

21880579

PAX2

NCAM1

Unknown

16406048; 19485921

PAX2

TP53

Repression

8521821

PAX2

WT1

Unknown

9178767

WT1

PAX2

Repression

9738017; 9916932

Subcellular localization of PAX2 (and its protein):

[UniProt] [GenomeNet]

plasma membrane
cytoplasm
extracellular
golgi
vesicle
cytoskeleton
endoplasmic reticulum
nucleus
endosome
lysosome
mitochondrion

Gene Ontology (GO) terms for PAX2:

GO ID

Protein

Source DB

GO:0003677

A0A0A0MRH7 (UniProtKB)

IEA

GO:0005634

A0A0A0MRH7 (UniProtKB)

IEA

GO:0006351

A0A0A0MRH7 (UniProtKB)

IEA

GO:0006355

A0A0A0MRH7 (UniProtKB)

IEA

GO:0007275

A0A0A0MRH7 (UniProtKB)

IEA

GO:0003677

G3V5S4 (UniProtKB)

IEA

GO:0005730

G3V5S4 (UniProtKB)

IDA

GO:0005794

G3V5S4 (UniProtKB)

IDA

GO:0006351

G3V5S4 (UniProtKB)

IEA

GO:0006355

G3V5S4 (UniProtKB)

IEA

GO:0007275

G3V5S4 (UniProtKB)

IEA

GO:0000987

Q02962 (UniProtKB)

IDA

GO:0001655

Q02962 (UniProtKB)

ISS

GO:0001658

Q02962 (UniProtKB)

ISS

GO:0001658

Q02962 (UniProtKB)

IEP

GO:0001709

Q02962 (UniProtKB)

ISS

GO:0001823

Q02962 (UniProtKB)

ISS

GO:0001843

Q02962 (UniProtKB)

ISS

GO:0002072

Q02962 (UniProtKB)

ISS

GO:0003337

Q02962 (UniProtKB)

ISS

GO:0003406

Q02962 (UniProtKB)

ISS

GO:0003677

Q02962 (UniProtKB)

ISS

GO:0003677

Q02962 (UniProtKB)

IDA

GO:0005515

Q02962 (UniProtKB)

IPI

GO:0005515

Q02962 (UniProtKB)

IPI

GO:0005634

Q02962 (UniProtKB)

IDA

GO:0005730

Q02962 (UniProtKB)

IDA

GO:0005764

Q02962 (UniProtKB)

IEA

GO:0005794

Q02962 (UniProtKB)

IDA

GO:0005815

Q02962 (UniProtKB)

IDA

GO:0006351

Q02962 (UniProtKB)

ISS

GO:0006366

Q02962 (UniProtKB)

TAS

GO:0007409

Q02962 (UniProtKB)

TAS

GO:0007501

Q02962 (UniProtKB)

ISS

GO:0007568

Q02962 (UniProtKB)

IEA

GO:0007601

Q02962 (UniProtKB)

TAS

GO:0008134

Q02962 (UniProtKB)

IPI

GO:0010001

Q02962 (UniProtKB)

ISS

GO:0016175

Q02962 (UniProtKB)

ISS

GO:0021554

Q02962 (UniProtKB)

ISS

GO:0021631

Q02962 (UniProtKB)

ISS

GO:0021633

Q02962 (UniProtKB)

ISS

GO:0021650

Q02962 (UniProtKB)

ISS

GO:0031667

Q02962 (UniProtKB)

IEA

GO:0032993

Q02962 (UniProtKB)

ISS

GO:0034451

Q02962 (UniProtKB)

IDA

GO:0035566

Q02962 (UniProtKB)

IMP

GO:0035799

Q02962 (UniProtKB)

ISS

GO:0039003

Q02962 (UniProtKB)

ISS

GO:0042472

Q02962 (UniProtKB)

ISS

GO:0043010

Q02962 (UniProtKB)

ISS

GO:0043066

Q02962 (UniProtKB)

IDA

GO:0043066

Q02962 (UniProtKB)

IMP

GO:0043069

Q02962 (UniProtKB)

ISS

GO:0043154

Q02962 (UniProtKB)

IDA

GO:0043154

Q02962 (UniProtKB)

IDA

GO:0043234

Q02962 (UniProtKB)

ISS

GO:0043491

Q02962 (UniProtKB)

ISS

GO:0044212

Q02962 (UniProtKB)

IDA

GO:0044212

Q02962 (UniProtKB)

IDA

GO:0044212

Q02962 (UniProtKB)

IDA

GO:0044212

Q02962 (UniProtKB)

IDA

GO:0045892

Q02962 (UniProtKB)

IMP

GO:0045893

Q02962 (UniProtKB)

IDA

GO:0045893

Q02962 (UniProtKB)

IDA

GO:0045893

Q02962 (UniProtKB)

IDA

GO:0045893

Q02962 (UniProtKB)

IDA

GO:0045918

Q02962 (UniProtKB)

IMP

GO:0045944

Q02962 (UniProtKB)

ISS

GO:0045944

Q02962 (UniProtKB)

IDA

GO:0048793

Q02962 (UniProtKB)

ISS

GO:0048854

Q02962 (UniProtKB)

ISS

GO:0048863

Q02962 (UniProtKB)

ISS

GO:0050679

Q02962 (UniProtKB)

IDA

GO:0055114

Q02962 (UniProtKB)

IEA

GO:0060231

Q02962 (UniProtKB)

ISS

GO:0061360

Q02962 (UniProtKB)

ISS

GO:0070301

Q02962 (UniProtKB)

ISS

GO:0071300

Q02962 (UniProtKB)

ISS

GO:0071333

Q02962 (UniProtKB)

ISS

GO:0071364

Q02962 (UniProtKB)

IEA

GO:0072075

Q02962 (UniProtKB)

ISS

GO:0072108

Q02962 (UniProtKB)

ISS

GO:0072162

Q02962 (UniProtKB)

ISS

GO:0072179

Q02962 (UniProtKB)

ISS

GO:0072189

Q02962 (UniProtKB)

ISS

GO:0072205

Q02962 (UniProtKB)

ISS

GO:0072207

Q02962 (UniProtKB)

IEP

GO:0072221

Q02962 (UniProtKB)

ISS

GO:0072289

Q02962 (UniProtKB)

ISS

GO:0072300

Q02962 (UniProtKB)

ISS

GO:0072305

Q02962 (UniProtKB)

ISS

GO:0072307

Q02962 (UniProtKB)

ISS

GO:0072593

Q02962 (UniProtKB)

ISS

GO:0090102

Q02962 (UniProtKB)

ISS

GO:0090103

Q02962 (UniProtKB)

ISS

GO:0090190

Q02962 (UniProtKB)

ISS

GO:1900212

Q02962 (UniProtKB)

ISS

GO:1900215

Q02962 (UniProtKB)

ISS

GO:1900218

Q02962 (UniProtKB)

ISS

GO:2000378

Q02962 (UniProtKB)

IDA

GO:2000594

Q02962 (UniProtKB)

ISS

GO:2000597

Q02962 (UniProtKB)

ISS

GO:0003677

Q5SZP1 (UniProtKB)

IEA

GO:0005730

Q5SZP1 (UniProtKB)

IDA

GO:0005794

Q5SZP1 (UniProtKB)

IDA

GO:0006351

Q5SZP1 (UniProtKB)

IEA

GO:0006355

Q5SZP1 (UniProtKB)

IEA

GO:0007275

Q5SZP1 (UniProtKB)

IEA

microRNAs potentially regulating PAX2:

hsa-miR-423-5p

String

BioGrid

IntAct

mentha

MINT

Loading…

Interacting Gene	Interaction	Source/Score

Disease

Score

NofPmids

NofSnps

Source

Disease	Score	NofPmids	NofSnps	Source
Papillorenal syndrome	0.568957582	34	7	BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT
Endometriosis	0.120271442	1	0	BeFree_CTD_human
Kidney Failure, Chronic	0.120271442	2	0	BeFree_CTD_human
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7	0.12	2	0	UNIPROT
Female Urogenital Diseases	0.12	1	0	CTD_human
Bilateral renal hypoplasia	0.12	0	0	ORPHANET
Nephroblastoma	0.083800186	15	0	BeFree_RGD
Diabetic Nephropathy	0.08	1	0	RGD
Reperfusion Injury	0.08	1	0	RGD
Renal Cell Carcinoma	0.011158911	13	0	BeFree_LHGDN

Expanded Phenotype of PAX2-Related Papillorenal Syndrome: A Case Featuring FSGS, Atypical Retinopathy, Cerebellar Hypoplasia, and ADHD.

Sultana N, Mamun AA, Begum A Clin Case Rep IF: 0.6 2026-02-00

Screening for genetic kidney diseases in a dialysis cohort via exome sequencing.

Liu ZY, Zhang YL, Li Y, Han JF, Song ZR, Zhang JY, Qu TH, Xu R, Zhang H, Chen XL, Zhou XJ Clin Kidney J IF: 5.3 2026-02-00

Esculetin ameliorates autism-like behaviors in GABAergic neuron-specific Pax2 knockdown mice, accompanied by reduced Wnt/β-catenin signaling.

Zhang N, Xue L, Chai S, Wang T, Jiang Y, Lei J, Wei H Neuroscience IF: 3.3 2026-09-28

Atypical Microglandular Hyperplasia of the Cervix With a Deceptive Pseudoinvasive Pattern: A Report of Two Patients Mimicking Malignancy and a Review of the Literature.

Yang C, Wang R, Hu Y, Liu Y, Song J, Xu J Int J Surg Pathol IF: 0.9 2026-07-22

Flexibility of cell fates and functions across sex determination systems revealed by comparative single-cell analyses.

Acemel RD, Tezak B, Chung VWY, Hurtado A, Albertson S, Weber CJ, Capel B, Lupiáñez DG bioRxiv 2026-01-30

Gynecologic Tumors and Precursor Lesions, Including p53-Aberrant Atypical Hyperplasia-like Endometrial Lesions, in Li-Fraumeni Syndrome.

Nishikawa Y, Ceyhan-Birsoy O, Selenica P, Mandelkar D, Chui MH Mod Pathol IF: 6.6 2026-08-00

Genetic Characterization of Lithuanian Patients With Cystic Kidney.

Brazdziunaite D, Mazur G, Kerpauskiene A, Cerkauskiene R, Vareikiene L, Miglinas M, Utkus A Clin Genet IF: 2.1 2026-02-00

Epigenetic, Genetic, and Functional Germline Alterations of PAX Genes in Human Pathology: A Comprehensive Update.

Gomez VL, Wegner S, Ocejo S, Perez D, Jabbour D, Fernandez V, Abulaban A, Bahmad M, Elajami TK, Abou-Kheir W, Bahmad HF Curr Issues Mol Biol IF: 4.1 2026-02-23

Paired-Box (PAX) Gene Signatures as a Biomarker of Breast Cancer Progression.

Scimeca M, Scioli MP, Palumbo V, Funke L, Woodsmith J, Servadei F, Giacobbi E, Seghetti C, Buonomo OC, Candi E, Treglia M, Marsella LT, Melino G, Mauriello A, Bonfiglio R Int J Mol Sci IF: 3.226 2026-02-19

Integrative Analysis of Gene and Protein Expression Data Reveals Novel Clusters for Ovarian Cancer Prognosis.

Kim J, Cho SB Int J Mol Sci IF: 3.226 2026-08-09

View more publications »

Loading comments...

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.

Business Email

E-mail: [email protected]

PAX2 (paired box 2)

Gene Basic Information

Gene Basic Information

Chromosome Location

Chromosome Location

Gene Summary

Gene Summary

Gene Sequence

Gene Sequence

Encoded Protein

Encoded Protein

Gene Variants

Gene Variants

Gene Expression

Gene Expression

Gene Primers

Gene Primers

Transcription Factors

Transcription Factors

Gene Ontology

Related microRNA

Related microRNA

Gene Interactions

Gene Interactions

Related Diseases

Related Diseases

Related Publications

Related Publications

Related Services

Related Services

Comments

Comments

Contact

WeChat Official Account