PAX2 (Paired box gene 2)

Identity

Other names	Paired box homeotic gene 2
Hugo	PAX2
Location	10q24

DNA/RNA

Description	12 exons, including alternative spliced exons 6 and 10
Transcription	7 alternative splicing isoforms
Pseudogene	No

Protein

Description	416 amino acids; 44.7 kDa
Expression	PAX2 is expressed in the developing eye, ear, central nervous system (CNS), spinal cord, pancreas and urogenital tract. PAX2 contains a DNA binding paired domain, a truncated homeodomain, an octapeptide region and a carboxyl-terminal transactivation domain.
Localisation	Nuclear.
Function	PAX2 is a transcription factor that acts to regulate the expression of genes involved in mediating cell proliferation and growth, resistance to apoptosis, and cell migration. PAX2 null mutant mice die perinatally with absent cochlea, kidneys, ureters, oviducts, vas deferens and epididymis, also demonstrating mid- and hindbrain deficiency and defective optic nerve.
Homology	PAX2 shares homology through the conserved paired box domain with the other members of the nine strong PAX gene family.

Mutations

Germinal	A number of PAX2 mutations have been reported as associated with Renal Coloboma Syndrome (see below), oligomeganephronia and isolated renal hypoplasia. These are collated on the Human PAX2 Allelic Variant Database (see below).
Somatic	see below.

Implicated in

Entity	Renal Coloboma Syndrome (RCS)
Note	Caused by heterozygous PAX2 mutations. Increased apoptosis arising as a result of impaired PAX2 function believed to be responsible for disrupted nephron formation and arrested cochlear outgrowth.
Prognosis	Renal Coloboma Syndrome is associated with end-stage renal failure and blindness.
Entity	Various cancers, including carcinomas of the kidney, carcinomas of the prostate, carcinomas of the breast and carcinomas of the ovary. Also Wilms¹ tumour and Kaposi¹s sarcoma.
Disease	PAX2 is overexpressed in a variety of cancers (see below). A detailed understanding of the mechanistic contribution mediated by PAX2 has yet to be established. However, inhibition of PAX2 expression in a number of cancer cell lines induces cell death, indicating a role for PAX2 in tumour cell survival.
Prognosis	PAX2 is not expressed in normal prostate tissue or benign prostatic hyperplasia, but is expressed in primary prostatic carcinomas suggesting that PAX2 expression may be a useful marker of prostate cancer. PAX2 expression correlates with proliferation index in the majority of kidney tumour subtypes, and expression levels are significantly higher in patients presenting metastatic disease. PAX2 may therefore provide a useful prognostic marker for determining the severity of kidney cancers.

External links

	Nomenclature
Hugo	PAX2
GDB	PAX2
Entrez_Gene	PAX2  5076  paired box 2
	Cards
Atlas	PAX2ID41642ch10q24
GeneCards	PAX2
Ensembl	PAX2 [Search_View]   ENSG00000075891 [Gene_View]
Genatlas	PAX2
GeneLynx	PAX2
eGenome	PAX2
euGene	5076
	Genomic and cartography
GoldenPath	PAX2  -  10q24   chr10:102495458-102579688 +  10q24   [Description]    (hg18-Mar_2006)
Ensembl	PAX2 - 10q24 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	PAX2
	Gene and transcription
Genbank	AY153483 [ ENTREZ ]
Genbank	AY153484 [ ENTREZ ]
Genbank	BC141452 [ ENTREZ ]
Genbank	BC148710 [ ENTREZ ]
Genbank	BM671839 [ ENTREZ ]
RefSeq	NM_000278 [ SRS ]    NM_000278 [ ENTREZ ]
RefSeq	NM_003987 [ SRS ]    NM_003987 [ ENTREZ ]
RefSeq	NM_003988 [ SRS ]    NM_003988 [ ENTREZ ]
RefSeq	NM_003989 [ SRS ]    NM_003989 [ ENTREZ ]
RefSeq	NM_003990 [ SRS ]    NM_003990 [ ENTREZ ]
RefSeq	AC_000053 [ SRS ]    AC_000053 [ ENTREZ ]
RefSeq	NC_000010 [ SRS ]    NC_000010 [ ENTREZ ]
RefSeq	NT_030059 [ SRS ]    NT_030059 [ ENTREZ ]
RefSeq	NW_924884 [ SRS ]    NW_924884 [ ENTREZ ]
AceView	PAX2 AceView - NCBI
Unigene	Hs.155644 [ SRS ]    Hs.155644 [ NCBI ]     HS155644 [ spliceNest ]
Fast-db	16431 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q02962 [ SRS]    Q02962 [ EXPASY ]     Q02962 [ INTERPRO ]
Prosite	PS00034 PAIRED_1 [ SRS ]    PS00034 PAIRED_1 [ Expasy ]
Prosite	PS51057 PAIRED_2 [ SRS ]    PS51057 PAIRED_2 [ Expasy ]
Interpro	IPR001523 Paired_box_N [ SRS ]    IPR001523 Paired_box_N [ EBI ]
Interpro	IPR011991 Wing_hlx_DNA_bd [ SRS ]    IPR011991 Wing_hlx_DNA_bd [ EBI ]
CluSTr	Q02962
Pfam	PF00292 PAX [ SRS ]    PF00292 PAX [ Sanger ]    pfam00292 [ NCBI-CDD ]
Smart	SM00351 PAX [EMBL]
Blocks	Q02962
HPRD	01330
	Protein Interaction databases
DIP	Q02962
IntAct	Q02962
	Polymorphism : SNP, mutations, diseases
OMIM	120330;167409    [ map ]
GENECLINICS	120330;167409
SNP	PAX2 [dbSNP-NCBI]
SNP	NM_000278 [SNP-NCI]
SNP	NM_003987 [SNP-NCI]
SNP	NM_003988 [SNP-NCI]
SNP	NM_003989 [SNP-NCI]
SNP	NM_003990 [SNP-NCI]
SNP	PAX2 [GeneSNPs - Utah]  PAX2] [HGBASE - SRS]
HAPMAP	PAX2 [HAPMAP]
HGMD	PAX2
	General knowledge
Family Browser	PAX2 [UCSC Family Browser]
SOURCE	NM_000278
SOURCE	NM_003987
SOURCE	NM_003988
SOURCE	NM_003989
SOURCE	NM_003990
SMD	Hs.155644
SAGE	Hs.155644
GO	DNA binding [Amigo]  DNA binding
GO	DNA binding [Amigo]  DNA binding
GO	nucleus [Amigo]  nucleus
GO	transcription [Amigo]  transcription
GO	regulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GO	transcription from RNA polymerase II promoter [Amigo]  transcription from RNA polymerase II promoter
GO	multicellular organismal development [Amigo]  multicellular organismal development
GO	axonogenesis [Amigo]  axonogenesis
GO	visual perception [Amigo]  visual perception
GO	cell differentiation [Amigo]  cell differentiation
PubGene	PAX2
TreeFam	PAX2
CTD	5076 [Comparative ToxicoGenomics Database]
	Other databases
Other database	PAX2 Allelic Variant Database http://pax2.hgu.mrc.ac.uk/
	Probes
Probe	PAX2 Related clones (RZPD - Berlin)
	PubMed
PubMed	49 Pubmed reference(s) in LocusLink

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Contributor(s)

Written	07-2005	Ewan Robson, Jess Whall, Michael Eccles
		Developmental Genetics Group, Department of Pathology, University of Otago, PO Box 913,Dunedin 9015, New Zealand

Citation

This paper should be referenced as such :

Robson E, Whall J, Eccles M . PAX2 (Paired box gene 2). Atlas Genet Cytogenet Oncol Haematol. July 2005 . URL : http://AtlasGeneticsOncology.org/Genes/PAX2ID41642ch10q24.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Wed Jul 2 08:25:51 2008