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Gene : PAX2 Homo sapiens

Name  ? paired box 2 Cytological Location  10q24.31
Brief Description  paired box 2
Description  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]
  • synonyms:
  • paired box gene 2,
  • FSGS7,
  • NM_000278,
  • OTTHUMG00000018913,
  • PAPRS,
  • HGNC:8616,
  • PAX2,
  • uc001kro.4
  • identifiers:
  • 5076,
  • ENSG00000075891,
  • PAX2

Genome feature

Region: gene ? Length: 94549  
Location: 10:100735396-100829944 Cyto location: 10q24.31


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

0 SN Ps

5 Cross References

18 Data Sets

12 Homologues

0 Located Features

97 Rna Seq Results