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Symbol PAX2 contributors: mct/npt/pgu - updated : 15-06-2015
HGNC name paired box 2
HGNC id 8616
Corresponding disease
ONCR optic nerve colobomas with renal disease
RADP2 renal adysplasia 2
Location 10q24.31      Physical location : 102.505.467 - 102.589.697
Synonym name
  • paired box gene 2
  • paired box homeotic gene 2
  • Synonym symbol(s) PAPRS
    TYPE functioning gene
    STRUCTURE 84.23 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map see WNT8B
    TRANSCRIPTS type messenger
    text with an alternatively spliced form PAX2D, extended C terminus (PMID: 9439670)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 splicing 4137 - 396 - 1994 7819127
  • also called PAX2-Ic
  • a conserved 83-nucleotide segment in the 3prime coding sequence
  • transcripts with the 83-nucleotide insertion encoding a putative protein with an alternative COOH-terminus
  • 11 splicing 4123 44.7 416 - 1994 7819127
    also called PAX2-Ia
    10 splicing 4054 - 393 fetal kidney 1994 7819127
    also called PAX2-Ib
    11 splicing 4104 - 431 - 1994 7819127
    also called PAX2-Ie
    10 splicing 4035 - 408 - 1994 7819127
    also called PAX2-Id
    - splicing - - - in B-cell neoplasia and in solid tumors on mRNA and protein level 2009 19467152
    intron 9
    Type restricted
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumear     Homo sapiensFetal
    Nervousbrainmidbrain    Homo sapiensFetal
     brainhindbrain    Homo sapiensFetal
     spinal cord     Homo sapiensFetal
    Urinarykidney   highly Homo sapiensFetal
    Visualeye     Homo sapiensFetal
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    SystemCellPubmedSpeciesStageRna symbol
    Urinarymesenchymal cell
    cell lineage
    cell lines
    at STAGE
    physiological period fetal, pregnancy
    Text kidney, throughout the branching ureteric bud Wolffian and Mullerian ducts, primitive cell of kidney, ureter, eye, ear and central nervous system
  • paired domain with 2 similar globular protein sub-domains, known as N (AAs 16-74) and C (AAs 88-148) subdomains, linked by the extended 12-AA polypeptide chain (AAs 75-87) similar to that of PAX6 paired domain
  • two structurally distinct N terminal (NTS)
  • a homonucleotide tracts of seven guanines
  • C terminal subdomains
  • a truncated helix-turn helix DNA binding domain and an intermediary octapeptide motif
    interspecies homolog to murine Pax2
  • paired box gene family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    basic FUNCTION
  • playing an essential role for the branching of ureteric bud during the development of renal epithelium
  • playing a role in the regulation of the progesterone response of the mature mammary gland
  • may play a role in early ureteric obstruction and subsequent renal maldevelopment
  • expressed in condensing metanephrogenic mesenchyme and arborizing ureteric bud, and plays an important role in kidney development
  • promotes assembly of an H3K4 methyltransferase complex through the ubiquitously expressed nuclear factor PAXIP1
  • developmental nuclear transcription factor, which is primarily expressed during embryogenesis in kidneys, eyes, ears and in the central nervous system
  • may function as transcriptional regulator, participating in a hierarchical network of gene regulation during embryogenesis
  • transcription factor that is up-regulated during nephrogenesis and becomes silenced in mature epithelium of the glomeruli, the proximal, and distal tubules
  • necessary for mesenchymal to epithelial transformation that occurs within the metanephros
  • suppresses DEFB1 expression in cancer and further implicate PAX2 as a novel therapeutic target for prostate cancer treatment
  • role in optic fissure development and in retinal vasculature patterning
  • plays an important role in kidney development, differentiation, and renal cell proliferation (
  • pivotal in kidney development and it is implicated in the pathogenesis of renal interstitial fibrosis (RIF) and glomerulosclerosis (GS)
  • promotes proliferation of colon cancer cells through JUN
  • CELLULAR PROCESS nucleotide, transcription
    signaling sensory transduction/hearing , sensory transduction/vision
  • biological function of menin-WT1 regulated PAX2 signaling in endocrine neoplasia and renal disease
  • potential signaling pathway between PAX2 and CD2AP in the renal interstitial fibrosis disease
  • a component
    DNA binding (truncated homeodomain)
    small molecule
  • interacting with PKD1
  • novel role of HNF1B as a modifier of the PAX2 haplo-insufficient phenotype and these two transcription factors operate in common pathways governing both kidney morphogenesis and ureter differentiation
  • cross-talk between TP53 and PAX2 provides a transcriptional platform that promotes nephrogenesis, thus contributing to nephron endowment
  • is a positive regulator of expression of CCND1 (PAX2 induces CCND1 through AP1)
  • PPM1B can dephosphorylate the PAX2 activation domain and displace the adaptor protein PAXIP1, thus inhibiting H3K4 methylation and gene activation
  • cell & other
    repressed by WT1 in podocyte during early stage of nephrogenesis
    Other TLX during retinal development
    corresponding disease(s) ONCR , RADP2
    related resource PAX2 Mutation Database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    in breast cancer
    constitutional mosaic      
    germinal mosaicism
    constitutional     --low  
    dysregulated and leading to diseases in cases of haploinsufficiency(see ONCRV) or persistent expression (see DDS)
    activated by oestrogen and tamoxifen in endometrial carcinomas
    tumoral       loss of function
    reactivation of PAX2 frequently observed in clear cell renal cell carcinoma (ccRCC), a tumor type characterized by loss of von Hippel-Lindau (VHL) tumor suppressor function
    tumoral       gain of function
    in low-grade ovarian serous carcinoma
    tumoral     --over  
    in human colon cancers (
    Variant & Polymorphism
    Candidate gene
  • strong candidate gene for cases in which human patients have optic disc coloboma not associated with renal dysplasia
  • Marker
  • biomarker for a more aggressive medulloblastoma phenotype
  • Therapy target
    therapeutic target for prostate cancer treatment
    appropriate target for the development of novel therapies for PKD1
    potential therapeutic gene target in renal cancer and adjunctive PAX2 knockdown may enhance the efficacy of other chemotherapeutic agents
    may represent a novel therapeutic target in medulloblastoma
  • homozygous Pax2 knockout mice fail to develop kidneys, ureters and genital tracts
  • heterozygous mice for Hnf1b and Pax2 null alleles display phenotypes similar to severe congenital anomalies of the kidney and the urinary tract (CAKUT), including strong hypoplasia of the kidneys, caudal ectopic aborted ureter buds, duplex kidneys, megaureters and hydronephrosis