PAX6
  • 3
    Haplo
    Score
  • 1
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PAX6 (HGNC:8620) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
paired box 6
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
AN1, AN2
Alias symbols
D11S812E, AN, WAGR
%HI
0.78(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.23(Read more about gnomAD LOEUF score)
Cytoband
11p13
Genomic Coordinates
GRCh37/hg19: chr11:31810574-31839509 NCBI Ensembl UCSC
GRCh38/hg38: chr11:31789026-31817961 NCBI Ensembl UCSC
MANE Select Transcript
NM_001368894.2 ENST00000640368.2 (Read more about MANE Select)
Function
Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity). Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains (By similarity). Acts as a transcriptional repressor of NFATC1- mediated gene expression (By ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-33176
ClinGen Curation ID:
CCID:007618
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Read full report...
Triplosensitivity:
Little Evidence for Triplosensitivity (1)
Read full report...
Related Links:
Last Evaluated:
11/05/2015

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
HI Evidence Comments:
Heterozygous deletions and loss of function mutations in PAX6 cause isolated aniridia. Larger deletions that also encompass the WT1 gene lead to WAGR syndrome (Wilms tumor-aniridia-genital anomalies-retardation). Rare reports of homozygous loss of function mutations have been reported in association with severe craniofacial anomalies, anophthalmia, absent adrenal glands, and central nervous system malformations. Additionally, missense and other mutations in PAX6 have been found in individuals with other types of eye abnormalities (see Gene Reviews). Deletions downstream of PAX6 not including its coding region disrupt a putative enhancer causing sporadic, and familial isolated aniridia. This cis-regulatory element, termed the PAX6 downstream regulatory region (DRR), was initially mapped from the 3' end of PAX6 for approximately 1 Mb, including the genes: ELP4, IMMP1L, DPH4, DCDC1, and others (Davis LK, 2008; Byrakli, 2009; Lauderdale, 2000). A recent study (Balay et al., 2015; PMID 26419218) suggests that the PAX6 DRR lies closer to the PAX6 gene, within the gene ELP4.

Triplosensitivity (TS) Score Details

TS Score:
1
TS Evidence Strength:
Little Evidence for Triplosensitivity (Disclaimer)
TS Published Evidence:
  • PUBMED: 21271670
    Aradhya (2010): report of a girl with a de novo duplication encompassing all of PAX6 and the first non-coding exon of the adjacent ELP4. The patient has a history of seizures, developmental delay, hyptonia, microcephaly, ADHD, autistic features, mild ocular findings, and mild dymorphic facial features. All other metabolic and molecular testing was normal.
TS Evidence Comments:
Other reports of duplications including PAX6 are rare and have been large duplications that include a number of other genes (PMID: 9415682).

Genomic View

Select assembly: (NC_000011.9) (NC_000011.10)