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Aliases for PAX6 Gene

Aliases for PAX6 Gene

  • Paired Box 6 2 3
  • AN2 3 4 6
  • Aniridia Type II Protein 3 4
  • Oculorhombin 3 4
  • MGDA 3 6
  • Paired Box Gene 6 (Aniridia, Keratitis) 2
  • Paired Box Homeotic Gene-6 3
  • Paired Box Protein Pax-6 3
  • Keratitis 2
  • Aniridia 2
  • D11S812E 3
  • WAGR 3
  • FVH1 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 paired box gene 6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to the hallmark feature of this gene family, a conserved paired box domain, the encoded protein also contains a homeo box domain. Both domains are known to bind DNA and function as regulators of gene transcription. This gene is expressed in the developing nervous system, and in developing eyes. Mutations in this gene are known to cause ocular disorders such as aniridia and Peter's anomaly. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

GeneCards Summary for PAX6 Gene

PAX6 (Paired Box 6) is a Protein Coding gene. Diseases associated with PAX6 include peters anomaly and aniridia. Among its related pathways are L1CAM interactions and Regulation of beta-cell development. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription factor 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

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

Antibody Products

No data available for DME Specific Peptides for PAX6 Gene

Domains for PAX6 Gene

Gene Families for PAX6 Gene

HGNC:
  • PAX :Paired boxes
  • PRD :Homeoboxes / PRD class

Graphical View of Domain Structure for InterPro Entry

P26367

UniProtKB/Swiss-Prot:

PAX6_HUMAN :
  • P26367
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 IEA --
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IDA 20592023
GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity IDA 20592023
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA --
GO:0001227 RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription IEA --
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

CRISPR Products

miRNA for PAX6 Gene

miRTarBase miRNAs that target PAX6

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 Targeting 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
cytosol 3
cytoskeleton 2
extracellular 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 --
genes like me logo Genes that share ontologies with PAX6: view

Pathways 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 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

Compounds for PAX6 Gene

(12) Novoseek inferred chemical compound relationships for PAX6 Gene

Compound -log(P) Hits PubMed IDs
proglucagon 34.6 2
retinoic acid 34.5 5
serine 12.1 7
proline 4.32 6
oxygen 0.81 2
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

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

Primer Products

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 (16.0) and Brain - Cerebellum (13.3).

Integrated Proteomics: protein expression 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 expressions with PAX6: view

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
chimpanzee
(Pan troglodytes)
Mammalia PAX6 35
  • 99.15 (n)
  • 99.49 (a)
PAX6 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia PAX6 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PAX6 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pax6 35
  • 93.68 (n)
  • 99.76 (a)
chicken
(Gallus gallus)
Aves PAX-6 36
  • 99 (a)
OneToOne
PAX6 35
  • 87.54 (n)
  • 99.31 (a)
lizard
(Anolis carolinensis)
Reptilia PAX6 36
  • 98 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC52531 35
tropical clawed frog
(Silurana tropicalis)
Amphibia pax6 35
  • 83.02 (n)
  • 98.58 (a)
zebrafish
(Danio rerio)
Actinopterygii pax6a 35
  • 81.64 (n)
  • 96.53 (a)
pax6a 36
  • 90 (a)
OneToMany
pax6b 35
pax6b 36
  • 90 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000067 35
  • 65.76 (n)
  • 72.66 (a)
fruit fly
(Drosophila melanogaster)
Insecta ey 36
  • 30 (a)
ManyToMany
toy 35
  • 58.48 (n)
  • 65.94 (a)
toy 36
  • 48 (a)
ManyToMany
toy 37
  • 50 (a)
sv 37
  • 73 (a)
ey 37
  • 93 (a)
Poxn 37
  • 64 (a)
worm
(Caenorhabditis elegans)
Secernentea vab-3 35
  • 55.87 (n)
  • 57.07 (a)
vab-3 36
  • 45 (a)
OneToMany
K07C11.1 37
  • 66 (a)
egl-38 37
  • 68 (a)
vab-3 37
  • 50 (a)
K06B9.5 37
  • 69 (a)
mab-18 37
  • 44 (a)
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

Relevant External Links for PAX6 Gene

HapMap Linkage Disequilibrium report
PAX6
Human Gene Mutation Database (HGMD)
PAX6
Locus Specific Mutation Databases (LSDB)
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

MalaCards: The human disease database. (28) Diseases for PAX6 Gene including...

Search for PAX6 Gene in MalaCards »

(8) OMIM Diseases for PAX6 Gene (607108)

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.
  • 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.
  • 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.
  • 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. 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, 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.

(48) Novoseek inferred disease relationships for PAX6 Gene

Disease -log(P) Hits PubMed IDs
aniridia 97.8 242
anomaly peters 91.3 24
wagr syndrome 91.2 11
eye abnormalities 79.5 14
microphthalmia 76.7 7

Relevant External Links for PAX6

GeneTests
PAX6
GeneReviews
PAX6
Genetic Association Database (GAD)
PAX6
Human Genome Epidemiology (HuGE) Navigator
PAX6
genes like me logo Genes that share disorders with PAX6: view

Publications for PAX6 Gene

  1. Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. (PMID: 1684738) Ton C.C.T. … Saunders G.F. (Cell 1991) 3 4 23
  2. The human PAX6 gene is mutated in two patients with aniridia. (PMID: 1302030) Jordan T. … van Heyningen V. (Nat. Genet. 1992) 2 3 23
  3. Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing. (PMID: 7958875) Epstein J.A. … Maas R.L. (Genes Dev. 1994) 3 4 23
  4. Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. (PMID: 8162071) Hanson I.M. … van Heyningen V. (Nat. Genet. 1994) 3 4 23
  5. PAX6 mutations in aniridia. (PMID: 8364574) Hanson I.M. … van Heyningen V. (Hum. Mol. Genet. 1993) 3 4 23

Products for PAX6 Gene

Sources for PAX6 Gene

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