Gene: PAX2

Alternate names for this Gene: FSGS7|PAPRS

Gene Summary: 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.

Gene is located in Chromosome: 10

Location in Chromosome : 10q24.31

Description of this Gene: paired box 2

Type of Gene: protein-coding

rs886037754 in PAX2 gene and Abnormal renal function PMID 26571382 2015 Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome.

rs75462234 in PAX2 gene and Allanson Pantzar McLeod syndrome PMID 27657687 2017 Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

rs10748798 in PAX2 gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs886037754 in PAX2 gene and Coloboma of optic disc PMID 26571382 2015 Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome.

rs4551692 in PAX2 gene and Diastolic blood pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

rs1201078720 in PAX2 gene and FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 PMID 24676634 2014 Mutations in PAX2 associate with adult-onset FSGS.

rs1554865146 in PAX2 gene and Multiple congenital anomalies PMID 24676634 2014 Mutations in PAX2 associate with adult-onset FSGS.

rs104894170 in PAX2 gene and Papillorenal syndrome PMID 24676634 2014 Mutations in PAX2 associate with adult-onset FSGS.

PMID 9760197 1998 Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330).

PMID 19954729 2009 A case of renal-coloboma syndrome associated with mental developmental delay exhibiting a novel PAX2 gene mutation.

PMID 22213154 2012 Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

PMID 11168927 2001 PAX2 mutations in oligomeganephronia.

PMID 15652857 2005 Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation.

PMID 27657687 2017 Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

PMID 21326282 2011 Clinical utility gene card for: renal coloboma (Papillorenal) syndrome.

rs10883543 in PAX2 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.