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PAX2

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Gene Facts External Data Attribution

HGNC Symbol
PAX2 (HGNC:8616) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
paired box 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
PAX-2
GenCC Classifications
Moderate1 Definitive2 Strong2 Supportive2 (Read more about GenCC Classifications)
%HI
0.24(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD v4.0 pLI score)
LOEUF
0.45(Read more about gnomAD v4.0 LOEUF score)
pLI and LOEUF metrics based on ENST00000355243 transcript
ACMG SF v3.2 Gene?
No
Cytoband
10q24.31
Genomic Coordinates
GRCh37/hg19: chr10:102495153-102589701 NCBI Ensembl UCSC
GRCh38/hg38: chr10:100735396-100829944 NCBI Ensembl UCSC
MANE Select Transcript
NM_000278.5 ENST00000355243.8 (Read more about MANE Select)
Function
Transcription factor that may have a role in kidney cell differentiation (PubMed:24676634). Has a critical role in the development of the urogenital tract, the eyes, and the CNS. {ECO:0000269|PubMed:24676634}. (Source: Uniprot)
Group By Activity Group By Gene-Disease Pair

Gene-Disease Validity

Gene Disease MOI Expert Panel Classification Report & Date
PAX2
focal segmental glomerulosclerosis 7
MONDO:0014451
AD Glomerulopathy GCEP Definitive 09/13/2021
Lumping and Splitting is the process by which ClinGen curation groups determine which disease entity they will use for evaluation. Groups review current disease and/or phenotype assertions (e.g. OMIM MIM phenotypes) and select the included and excluded phenotypes according to current guidelines. MIM phenotypes represented below are those that were available on the stated evaluation date.
Included MIM Phenotypes :
MIM:616002 - Glomerulosclerosis, focal segmental, 7
Excluded MIM Phenotypes :
No Excluded MIM Phenotypes were specified
Evaluation Date :
09/13/2021
Curation Type :
Curate a “lumped” disease entity from this list (Read more about curation type)
Rationales :
Molecular mechanism, Phenotypic Variability (Read more about curation type)
PMIDs :
No PMIDs were specified
Notes :
No Notes were specified
Expert Panel:
No Secondary Contributors were specified
History:
None
Other Stuff:
Lorem Epsum
Gene Disease Working Group HI Score & TS Score Report & Date
PAX2 renal coloboma syndrome
MONDO:0007352
Dosage Sensitivity WG 3 (Sufficient Evidence for Haploinsufficiency) 02/26/2020
PAX2 Dosage Sensitivity WG 0 (No Evidence for Triplosensitivity) 02/26/2020