This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to a conserved paired box domain, a hallmark feature of this gene family, the encoded protein also contains a homeobox domain. Both domains are known to bind DNA and function as regulators of gene transcription. Activity of this protein is key in the devel... See more...

Aliases for PAX6 Gene

Aliases for PAX6 Gene

  • Paired Box 6 2 3 5
  • Paired Box Protein Pax-6 3 4
  • Aniridia Type II Protein 3 4
  • Oculorhombin 3 4
  • Aniridia 1 2 3
  • Aniridia 2 2 3
  • D11S812E 2 3
  • WAGR 2 3
  • AN2 3 4
  • AN 2 3
  • Paired Box Gene 6 (Aniridia, Keratitis) 2
  • Paired Box Homeotic Gene-6 3
  • Aniridia, Keratitis 2
  • ASGD5 3
  • FVH1 3
  • MGDA 3
  • PAX6 5
  • AN1 3

External Ids for PAX6 Gene

Previous HGNC Symbols for PAX6 Gene

  • AN1
  • AN2

Previous GeneCards Identifiers for PAX6 Gene

  • GC11M033407
  • GC11M032586
  • GC11M031849
  • GC11M031775
  • GC11M031768
  • GC11M031501
  • GC11M031806

Summaries for PAX6 Gene

Entrez Gene Summary for PAX6 Gene

  • This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to a conserved paired box domain, a hallmark feature of this gene family, the encoded protein also contains a homeobox domain. Both domains are known to bind DNA and function as regulators of gene transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. Use of alternate promoters and alternative splicing results in multiple transcript variants encoding different isoforms. Interestingly, inclusion of a particular alternate coding exon has been shown to increase the length of the paired box domain and alter its DNA binding specificity. Consequently, isoforms that carry the shorter paired box domain regulate a different set of genes compared to the isoforms carrying the longer paired box domain. [provided by RefSeq, Mar 2019]

GeneCards Summary for PAX6 Gene

PAX6 (Paired Box 6) is a Protein Coding gene. Diseases associated with PAX6 include Coloboma Of Optic Nerve and Foveal Hypoplasia 1. Among its related pathways are Regulation of beta-cell development and Ectoderm Differentiation. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is PAX7.

UniProtKB/Swiss-Prot Summary for PAX6 Gene

  • 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). Isoform 5a appears to function as a molecular switch that specifies target genes.

Gene Wiki entry for PAX6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PAX6 Gene

Genomics for PAX6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PAX6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J031811 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.4 +7.3 7294 7.1 RNF2 CREB1 ATF7 PRDM10 ZNF629 ZNF512 IKZF1 ZNF692 JUND PRDM1 ENSG00000285283 PAUPAR PAX6-AS1 PAX6 lnc-IMMP1L-6 lnc-IMMP1L-7 lnc-ELP4-8 ELP4
GH11J031815 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 600.7 +1.0 960 2.4 CREB1 ZNF629 ZNF692 PRDM1 ZIC2 PKNOX1 POLR2A PATZ1 EZH2 ZNF600 PAX6 lnc-ELP4-2 lnc-IMMP1L-7 ENSG00000285283 PAUPAR PAX6-AS1 lnc-ELP4-8
GH11J031813 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE dbSUPER 600.4 +13.1 13123 2 POLR2A EZH2 NFE2 EBF1 CBX8 ZBTB33 SMARCA4 IKZF1 SP1 EGR1 lnc-IMMP1L-6 PAX6 ENSG00000285283 lnc-IMMP1L-5 lnc-ELP4-8 ELP4
GH11J031821 Enhancer 0.5 ENCODE dbSUPER 600.7 -1.7 -1748 0.2 EZH2 CBX8 PAX6 lnc-ELP4-2 lnc-IMMP1L-7 ENSG00000285283 PAUPAR PAX6-AS1 lnc-PAX6-5 lnc-ELP4-8 RCN1
GH11J031818 Enhancer 0.4 ENCODE dbSUPER 600.7 -0.9 -907 0.1 EZH2 PAX6 lnc-ELP4-2 lnc-IMMP1L-7 ENSG00000285283 PAUPAR PAX6-AS1 lnc-PAX6-5 lnc-ELP4-8 RCN1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PAX6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PAX6

Top Transcription factor binding sites by QIAGEN in the PAX6 gene promoter:
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for PAX6 Gene

Genomic Locations for PAX6 Gene
chr11:31,784,779-31,817,961
(GRCh38/hg38)
Size:
33,183 bases
Orientation:
Minus strand
chr11:31,806,340-31,839,509
(GRCh37/hg19)
Size:
33,170 bases
Orientation:
Minus strand

Genomic View for PAX6 Gene

Genes around PAX6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAX6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PAX6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAX6 Gene

Proteins for PAX6 Gene

  • Protein details for PAX6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P26367-PAX6_HUMAN
    Recommended name:
    Paired box protein Pax-6
    Protein Accession:
    P26367
    Secondary Accessions:
    • Q6N006
    • Q99413

    Protein attributes for PAX6 Gene

    Size:
    422 amino acids
    Molecular mass:
    46683 Da
    Quaternary structure:
    • Interacts with MAF and MAFB. Interacts with TRIM11; this interaction leads to ubiquitination and proteasomal degradation, as well as inhibition of transactivation, possibly in part by preventing PAX6 binding to consensus DNA sequences.

    Three dimensional structures from OCA and Proteopedia for PAX6 Gene

    Alternative splice isoforms for PAX6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PAX6 Gene

Post-translational modifications for PAX6 Gene

  • Ubiquitinated by TRIM11, leading to ubiquitination and proteasomal degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PAX6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for PAX6

No data available for DME Specific Peptides for PAX6 Gene

Domains & Families for PAX6 Gene

Gene Families for PAX6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transcription factors

Protein Domains for PAX6 Gene

InterPro:
Blocks:
  • Paired box protein, N-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for PAX6 Gene

GenScript: Design optimal peptide antigens:
  • Paired box protein 6 isoform c (D1KF47_HUMAN)
  • Paired box gene 6 (Aniridia, keratitis), isoform CRA_a (D3DQZ8_HUMAN)
  • Paired box 6 (E5LBD7_HUMAN)
  • Paired box protein Pax-6 (F1T0F8_HUMAN)
  • Oculorhombin (PAX6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P26367

UniProtKB/Swiss-Prot:

PAX6_HUMAN :
  • Belongs to the paired homeobox family.
Family:
  • Belongs to the paired homeobox family.
genes like me logo Genes that share domains with PAX6: view

Function for PAX6 Gene

Molecular function for PAX6 Gene

UniProtKB/Swiss-Prot 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). Isoform 5a appears to function as a molecular switch that specifies target genes.
GENATLAS Biochemistry:
paired box (DNA binding) containing protein 6,with homeo domain,expressed in the central nervous system and endocrine pancreas,key regulator of eye development and regulator of glial precursors in the ventral neural tube

Phenotypes From GWAS Catalog for PAX6 Gene

Gene Ontology (GO) - Molecular Function for PAX6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 20592023
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IEA --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific IDA,ISM 19274049
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IEA --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA --
genes like me logo Genes that share ontologies with PAX6: view
genes like me logo Genes that share phenotypes with PAX6: view

Human Phenotype Ontology for PAX6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PAX6 Gene

MGI Knock Outs for PAX6:

Animal Model Products

CRISPR Products

Targeted motifs for PAX6 Gene
HOMER Transcription Factor Regulatory Elements motif PAX6
  • Consensus sequence: NGTGTTCAVTSAAGCGKAAA Submotif: canonical Cell Type: Forebrain GEO ID: GSE66961

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PAX6

Clone Products

  • Addgene plasmids for PAX6

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for PAX6 Gene

Localization for PAX6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAX6 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PAX6 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 3
cytoskeleton 3
plasma membrane 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PAX6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA,ISA --
GO:0005623 cell IEA --
GO:0005634 nucleus IEA,IDA 17291498
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA 17291498
genes like me logo Genes that share ontologies with PAX6: view

Pathways & Interactions for PAX6 Gene

genes like me logo Genes that share pathways with PAX6: view

SIGNOR curated interactions for PAX6 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PAX6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0000132 establishment of mitotic spindle orientation IEA --
GO:0001568 blood vessel development IMP 7550230
GO:0001654 eye development TAS 10747901
GO:0001709 cell fate determination IEA --
genes like me logo Genes that share ontologies with PAX6: view

Drugs & Compounds for PAX6 Gene

(7) Drugs for PAX6 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for PAX6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PAX6: view

Transcripts for PAX6 Gene

mRNA/cDNA for PAX6 Gene

51 REFSEQ mRNAs :
42 NCBI additional mRNA sequence :
82 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PAX6

Clone Products

  • Addgene plasmids for PAX6

Alternative Splicing Database (ASD) splice patterns (SP) for PAX6 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c · 15d ·
SP1: - - - - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - -
SP4: - - - - - - - - - -
SP5: -
SP6: - - - - - - - - - - -
SP7: - - - - - - - - - - - -
SP8: - - - - -
SP9: - -
SP10:
SP11:
SP12: - - - - - - - - - - - - - -
SP13: - - - - - - - -
SP14: - - - - - - - - - - -
SP15:
SP16: - - - - - - - - - -
SP17: - - -
SP18: -
SP19: - - -
SP20:
SP21: -

ExUns: 15e ^ 16 ^ 17a · 17b · 17c ^ 18 ^ 19 ^ 20 ^ 21a · 21b · 21c ^ 22a · 22b ^ 23a · 23b ^ 24
SP1: - - -
SP2: - - -
SP3: - - -
SP4:
SP5: - - -
SP6:
SP7:
SP8: - -
SP9: - - -
SP10: - -
SP11:
SP12:
SP13:
SP14: - - - - - -
SP15: -
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:

Relevant External Links for PAX6 Gene

GeneLoc Exon Structure for
PAX6

Expression for PAX6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PAX6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PAX6 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x16.0) and Brain - Cerebellum (x13.3).

Protein differential expression in normal tissues from HIPED for PAX6 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PAX6 Gene



Protein tissue co-expression partners for PAX6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PAX6

SOURCE GeneReport for Unigene cluster for PAX6 Gene:

Hs.270303

mRNA Expression by UniProt/SwissProt for PAX6 Gene:

P26367-PAX6_HUMAN
Tissue specificity: Fetal eye, brain, spinal cord and olfactory epithelium. Isoform 5a is less abundant than the PAX6 shorter form.

Evidence on tissue expression from TISSUES for PAX6 Gene

  • Nervous system(4.9)
  • Eye(4.9)
  • Lung(4.5)
  • Pancreas(4.4)
  • Skin(3.3)
  • Blood(2.6)
  • Muscle(2.4)
  • Stomach(2.4)
  • Heart(2.3)
  • Intestine(2.2)
  • Kidney(2.2)
  • Liver(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PAX6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • skull
Abdomen:
  • kidney
Pelvis:
  • penis
  • testicle
  • urethra
General:
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with PAX6: view

Orthologs for PAX6 Gene

This gene was present in the common ancestor of animals.

Orthologs for PAX6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PAX6 30 31
  • 99.15 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PAX6 30 31
  • 97 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pax6 30 17 31
  • 94.34 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pax6 30
  • 93.68 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia PAX6 31
  • 90 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PAX6 31
  • 90 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PAX-6 31
  • 99 (a)
OneToOne
PAX6 30
  • 87.54 (n)
Lizard
(Anolis carolinensis)
Reptilia PAX6 31
  • 98 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pax6 30
  • 83.02 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC52531 30
Zebrafish
(Danio rerio)
Actinopterygii pax6b 30 31
  • 90 (a)
OneToMany
pax6a 30 31
  • 81.64 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta sv 32
  • 73 (a)
Poxn 32
  • 64 (a)
toy 30 31 32
  • 58.48 (n)
ManyToMany
ey 31 32
  • 30 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000067 30
  • 65.76 (n)
Worm
(Caenorhabditis elegans)
Secernentea K06B9.5 32
  • 69 (a)
egl-38 32
  • 68 (a)
K07C11.1 32
  • 66 (a)
vab-3 30 31 32
  • 55.87 (n)
OneToMany
mab-18 32
  • 44 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 41 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.14207 30
Species where no ortholog for PAX6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PAX6 Gene

ENSEMBL:
Gene Tree for PAX6 (if available)
TreeFam:
Gene Tree for PAX6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PAX6: view image

Paralogs for PAX6 Gene

(18) SIMAP similar genes for PAX6 Gene using alignment to 19 proteins:

  • PAX6_HUMAN
  • B1B1I8_HUMAN
  • B1B1I9_HUMAN
  • B1B1J0_HUMAN
  • D1KF47_HUMAN
  • D3DQZ8_HUMAN
  • E5LBD7_HUMAN
  • E9PKM0_HUMAN
  • F1T0F8_HUMAN
  • L8E7A6_HUMAN
  • Q2XU31_HUMAN
  • Q2XU32_HUMAN
  • Q56H36_HUMAN
  • Q6RYC5_HUMAN
  • Q6VMN9_HUMAN
  • Q6VMP0_HUMAN
  • Q7Z5Y4_HUMAN
  • Q7Z6F0_HUMAN
  • Q8IVH0_HUMAN
genes like me logo Genes that share paralogs with PAX6: view

Variants for PAX6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PAX6 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
637045 Pathogenic: Aniridia 1 31,802,733(-) G/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
638055 Pathogenic: Coloboma of optic disc 31,789,935(-) TACTGTAA/T FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
648737 Uncertain Significance: Irido-corneo-trabecular dysgenesis; Aniridia 1 31,794,680(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
651977 Pathogenic: Irido-corneo-trabecular dysgenesis; Aniridia 1 31,802,732(-) CG/C FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
658913 Pathogenic: Irido-corneo-trabecular dysgenesis; Aniridia 1 31,802,809(-) AC/A FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for PAX6 Gene

Structural Variations from Database of Genomic Variants (DGV) for PAX6 Gene

Variant ID Type Subtype PubMed ID
esv3625830 CNV gain 21293372
nsv7728 CNV deletion 18451855
nsv825815 CNV gain 20364138
nsv825816 CNV gain 20364138

Variation tolerance for PAX6 Gene

Residual Variation Intolerance Score: 14.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.17; 3.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PAX6 Gene

Human Gene Mutation Database (HGMD)
PAX6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PAX6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAX6 Gene

Disorders for PAX6 Gene

MalaCards: The human disease database

(103) MalaCards diseases for PAX6 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
coloboma of optic nerve
  • morning glory disc anomaly
foveal hypoplasia 1
  • fvh1
optic nerve hypoplasia, bilateral
  • optic nerve hypoplasia
keratitis, hereditary
  • keratitis
aniridia 1
  • an1
- elite association - COSMIC cancer census association via MalaCards
Search PAX6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PAX6_HUMAN
  • Aniridia 1 (AN1) [MIM:106210]: A congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time. {ECO:0000269 PubMed:10234503, ECO:0000269 PubMed:10737978, ECO:0000269 PubMed:11309364, ECO:0000269 PubMed:11553050, ECO:0000269 PubMed:11826019, ECO:0000269 PubMed:12552561, ECO:0000269 PubMed:12634864, ECO:0000269 PubMed:16493447, ECO:0000269 PubMed:17595013, ECO:0000269 PubMed:21850189, ECO:0000269 PubMed:24033328, ECO:0000269 PubMed:8364574, ECO:0000269 PubMed:9147640, ECO:0000269 PubMed:9281415, ECO:0000269 PubMed:9792406, ECO:0000269 PubMed:9856761, ECO:0000269 PubMed:9931324, ECO:0000269 Ref.27, ECO:0000269 Ref.28}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Anterior segment dysgenesis 5 (ASGD5) [MIM:604229]: A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. {ECO:0000269 PubMed:10441571, ECO:0000269 PubMed:12721955, ECO:0000269 PubMed:8162071}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Foveal hypoplasia 1 (FVH1) [MIM:136520]: An isolated form of foveal hypoplasia, a developmental defect of the eye defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Clinical features include absence of foveal pit on optical coherence tomography, absence of foveal hyperpigmentation, absence of foveal avascularity, absence of foveal and macular reflexes, decreased visual acuity, and nystagmus. Anterior segment anomalies and cataract are observed in some FVH1 patients. {ECO:0000269 PubMed:8640214, ECO:0000269 PubMed:9931324}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Keratitis hereditary (KERH) [MIM:148190]: An ocular disorder characterized by corneal opacification, recurrent stromal keratitis and vascularization. {ECO:0000269 PubMed:7668281}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Coloboma, ocular, autosomal dominant (COAD) [MIM:120200]: A set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). The clinical presentation is variable. Some individuals may present with minimal defects in the anterior iris leaf without other ocular defects. More complex malformations create a combination of iris, uveoretinal and/or optic nerve defects without or with microphthalmia or even anophthalmia. {ECO:0000269 PubMed:12721955}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Coloboma of optic nerve (COLON) [MIM:120430]: An ocular defect that is due to malclosure of the fetal intraocular fissure affecting the optic nerve head. In some affected individuals, it appears as enlargement of the physiologic cup with severely affected eyes showing huge cavities at the site of the disk. {ECO:0000269 PubMed:12721955}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Bilateral optic nerve hypoplasia (BONH) [MIM:165550]: A congenital anomaly in which the optic disk appears abnormally small. It may be an isolated finding or part of a spectrum of anatomic and functional abnormalities that includes partial or complete agenesis of the septum pellucidum, other midline brain defects, cerebral anomalies, pituitary dysfunction, and structural abnormalities of the pituitary. {ECO:0000269 PubMed:12721955}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Aniridia 2 (AN2) [MIM:617141]: A form of aniridia, a congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time. {ECO:0000269 PubMed:24290376}. Note=The gene represented in this entry is involved in disease pathogenesis. A mutation in a PAX6 long-range cis-regulatory element, known as SIMO, affects PAX6 expression in the developing eye and has pathological consequences. The mutation is located in ELP4 intron 9, 150 kb downstream of PAX6. {ECO:0000269 PubMed:24290376}.

Additional Disease Information for PAX6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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Publications for PAX6 Gene

  1. Expression of the homeobox genes PAX6, OTX2, and OTX1 in the early human fetal retina. (PMID: 19414065) Larsen KB … Møller M (International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2009) 3 4 23
  2. A novel missense mutation (Leu46Val) of PAX6 found in an autistic patient. (PMID: 19607881) Maekawa M … Yoshikawa T (Neuroscience letters 2009) 3 23 41
  3. Molecular analysis of a human PAX6 homeobox mutant. (PMID: 16493447) D'Elia AV … Damante G (European journal of human genetics : EJHG 2006) 3 4 23
  4. PAX6 missense mutations associated in patients with optic nerve malformation. (PMID: 16604056) Nallathambi J … Sundaresan P (Molecular vision 2006) 3 23 41
  5. Association studies of variants in the genes involved in pancreatic beta-cell function in type 2 diabetes in Japanese subjects. (PMID: 16873704) Yokoi N … Seino S (Diabetes 2006) 3 23 41

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