Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

PAX2

contributors: mct/npt/pgu - updated : 15-06-2015

HGNC name	paired box 2
HGNC id	8616

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

ONCR , RADP2

related resource

PAX2 Mutation Database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral         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) tumoral         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 (

Susceptibility

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
	System Type Disorder Pubmed cancer reproductive prostate therapeutic target for prostate cancer treatment tumor kidney   appropriate target for the development of novel therapies for PKD1 cancer urinary   potential therapeutic gene target in renal cancer and adjunctive PAX2 knockdown may enhance the efficacy of other chemotherapeutic agents cancer brain   may represent a novel therapeutic target in medulloblastoma

ANIMAL & CELL MODELS

	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