PAX2 paired box 2
Gene ID: 5076, updated on 28-Oct-2024Gene type: protein coding
Also known as: FSGS7; PAPRS; PAX-2
- See all available tests in GTR for this gene
- Go to complete Gene record for PAX2
- Go to Variation Viewer for PAX2 variants
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. [provided by RefSeq, Dec 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Anophthalmia-microphthalmia syndrome MedGen: C5680330GeneReviews: Not available | See labs |
| Focal segmental glomerulosclerosis 7 | See labs |
| Genome-wide scan of copy number variation in late-onset Alzheimer's disease. GeneReviews: Not available | |
| Renal coloboma syndrome | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2020-02-26) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-02-26) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 10q24.31
- Sequence:
- Chromosome: 10; NC_000010.11 (100735396..100829944)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PAX2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.