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Aliases for PAX6 Gene

Aliases for PAX6 Gene

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

External Ids for PAX6 Gene

Previous HGNC Symbols for PAX6 Gene

  • AN2

Previous GeneCards Identifiers for PAX6 Gene

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

Summaries for PAX6 Gene

Entrez Gene Summary for PAX6 Gene

  • This gene encodes a homeobox and paired domain-containing protein that binds DNA and functions as a regulator of 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 result in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]

GeneCards Summary for PAX6 Gene

PAX6 (Paired Box 6) is a Protein Coding gene. Diseases associated with PAX6 include aniridia and peters anomaly. Among its related pathways are Developmental Biology and Regulation of beta-cell development. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and chromatin binding. An important paralog of this gene is PAX4.

UniProtKB/Swiss-Prot 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PAX6 Gene

Genomics for PAX6 Gene

Regulatory Elements for PAX6 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PAX6 Gene

Chromosome:
11
Start:
31,784,792 bp from pter
End:
31,817,961 bp from pter
Size:
33,170 bases
Orientation:
Minus strand

Genomic View for PAX6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for PAX6 Gene at MOPED

Post-translational modifications for PAX6 Gene

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

No data available for DME Specific Peptides for PAX6 Gene

Domains & Families for PAX6 Gene

Gene Families for PAX6 Gene

Graphical View of Domain Structure for InterPro Entry

P26367

UniProtKB/Swiss-Prot:

PAX6_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the paired homeobox family.
Domain:
  • Contains 1 homeobox DNA-binding domain.
  • Contains 1 paired domain.
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

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
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.

Gene Ontology (GO) - Molecular Function for PAX6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding --
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IDA 20592023
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IDA 20592023
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding --
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding --
genes like me logo Genes that share ontologies with PAX6: view
genes like me logo Genes that share phenotypes with PAX6: view

Animal Models for PAX6 Gene

MGI Knock Outs for PAX6:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PAX6

In Situ Assay Products

Flow Cytometry Products

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

Localization for PAX6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAX6 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PAX6 Gene COMPARTMENTS Subcellular localization image for PAX6 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 2
extracellular 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PAX6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 20592023
GO:0005622 intracellular --
GO:0005634 nucleus 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

PCR Array Products

Gene Ontology (GO) - Biological Process for PAX6 Gene

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

No data available for SIGNOR curated interactions for PAX6 Gene

Drugs & Compounds for PAX6 Gene

(6) Drugs for PAX6 Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
bromodeoxyuridine Pharma 4
alanine Nutra 97
arginine Nutra 346
proline Nutra 20
serine Nutra 420

(6) Additional Compounds for PAX6 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
glucose
glutamate
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
Proglucagon
retinoic acid
302-79-4
genes like me logo Genes that share compounds with PAX6: view

Transcripts for PAX6 Gene

Unigene Clusters for PAX6 Gene

Paired box 6:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PAX6

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
PAX6

Expression for PAX6 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for PAX6 Gene



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
genes like me logo Genes that share expression patterns with PAX6: view

Protein tissue co-expression partners for PAX6 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for PAX6 Gene

This gene was present in the common ancestor of animals.

Orthologs for PAX6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PAX6 35
  • 97 (n)
  • 99.76 (a)
PAX6 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pax6 35
  • 94.34 (n)
  • 99.77 (a)
Pax6 16
Pax6 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PAX6 35
  • 99.15 (n)
  • 99.49 (a)
PAX6 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pax6 35
  • 93.68 (n)
  • 99.76 (a)
oppossum
(Monodelphis domestica)
Mammalia PAX6 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PAX6 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves PAX6 35
  • 87.54 (n)
  • 99.31 (a)
PAX-6 36
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PAX6 36
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pax6 35
  • 83.02 (n)
  • 98.58 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC52531 35
zebrafish
(Danio rerio)
Actinopterygii pax6a 35
  • 81.64 (n)
  • 96.53 (a)
pax6b 35
pax6a 36
  • 90 (a)
OneToMany
pax6b 36
  • 90 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta ey 37
  • 93 (a)
Poxn 37
  • 64 (a)
sv 37
  • 73 (a)
toy 37
  • 50 (a)
toy 35
  • 58.48 (n)
  • 65.94 (a)
ey 36
  • 30 (a)
ManyToMany
toy 36
  • 48 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000067 35
  • 65.76 (n)
  • 72.66 (a)
worm
(Caenorhabditis elegans)
Secernentea egl-38 37
  • 68 (a)
K06B9.5 37
  • 69 (a)
K07C11.1 37
  • 66 (a)
mab-18 37
  • 44 (a)
vab-3 37
  • 50 (a)
vab-3 35
  • 55.87 (n)
  • 57.07 (a)
vab-3 36
  • 45 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14207 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToMany
Species with no ortholog for PAX6:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for PAX6 Gene

Paralogs for PAX6 Gene

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

Variants for PAX6 Gene

Sequence variations from dbSNP and Humsavar for PAX6 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs1506 -- 31,788,750(-) ACAGC(A/T)GGGTG utr-variant-3-prime
rs592859 -- 31,797,787(-) TTATC(C/G)TGGGG intron-variant
rs608293 -- 31,786,732(-) ATGGT(A/G)AACAA utr-variant-3-prime
rs628224 -- 31,797,626(+) AGTTC(A/G)TTACT intron-variant
rs640258 -- 31,792,182(-) GCAGG(C/G)CCTCA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv825815 CNV Gain 20364138
nsv7728 CNV Loss 18451855
nsv897188 CNV Loss 21882294
nsv825816 CNV Gain 20364138

Variation tolerance for PAX6 Gene

Residual Variation Intolerance Score: 14.25% 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)

Relevant External Links for PAX6 Gene

HapMap Linkage Disequilibrium report
PAX6
Human Gene Mutation Database (HGMD)
PAX6

PCR Panel Products

  • Copy Number PCR Panels: for PAX6

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

Disorders for PAX6 Gene

MalaCards: The human disease database

(57) MalaCards diseases for PAX6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
aniridia
  • cataract with late-onset corneal dystrophy
peters anomaly
  • peters-plus syndrome
autosomal dominant keratitis
  • hereditary keratitis
morning glory syndrome
  • ectasic coloboma
keratitis
  • keratitis, hereditary
- elite association
Search PAX6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PAX6_HUMAN
  • Aniridia (AN) [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:21850189, 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.25, ECO:0000269 Ref.26}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Aniridia, cerebellar ataxia and mental deficiency (ACAMD) [MIM:206700]: A rare condition consisting of partial rudimentary iris, cerebellar impairment of the ability to perform coordinated voluntary movements, and mental retardation. {ECO:0000269 PubMed:17595013}. 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.
  • 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. 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.
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peters anomaly (PETAN) [MIM:604229]: Consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea. {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.

Relevant External Links for PAX6

Genetic Association Database (GAD)
PAX6
Human Genome Epidemiology (HuGE) Navigator
PAX6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PAX6
genes like me logo Genes that share disorders with PAX6: view

No data available for Genatlas for PAX6 Gene

Publications for PAX6 Gene

  1. PAX6 suppression of glioma angiogenesis and the expression of vascular endothelial growth factor A. (PMID: 19618119) Zhou Y.H. … Linskey M.E. (J. Neurooncol. 2010) 23 67
  2. Tumor suppressor PAX6 functions as androgen receptor co-repressor to inhibit prostate cancer growth. (PMID: 19790232) Shyr C.R. … Chang C. (Prostate 2010) 23 67
  3. A novel mutation of PAX6 in Chinese patients with new clinical features of Peters' anomaly. (PMID: 20405024) Jia X. … Zhang Q. (Mol. Vis. 2010) 23 67
  4. The beta subunit of voltage-gated Ca2+ channels interacts with and regulates the activity of a novel isoform of Pax6. (PMID: 19917615) Zhang Y. … Yang J. (J. Biol. Chem. 2010) 23 67
  5. Paired box 6 (PAX6) regulates glucose metabolism via proinsulin processing mediated by prohormone convertase 1/3 (PC1/3). (PMID: 19034419) Wen J.H. … Li L.S. (Diabetologia 2009) 23 67

Products for PAX6 Gene

Sources for PAX6 Gene

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