Aliases for PAX6 Gene
Aliases for PAX6 Gene
External Ids for PAX6 Gene
- HGNC: 8620
- Entrez Gene: 5080
- Ensembl: ENSG00000007372
- OMIM: 607108
- UniProtKB: P26367
Previous HGNC Symbols for PAX6 Gene
- AN2
Previous GeneCards Identifiers for PAX6 Gene
- GC11M033407
- GC11M032586
- GC11M031849
- GC11M031775
- GC11M031768
- GC11M031501
Summaries 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 Coloboma Of Optic Nerve and Foveal Hypoplasia 1. Among its related pathways are Ectoderm Differentiation and Peptide hormone metabolism. 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 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.
Additional gene information for PAX6 Gene
- Monarch Initiative
- Search for PAX6 at DataMed
- Search for PAX6 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PAX6 Gene
Genomics for PAX6 Gene
GeneHancer (GH) Regulatory Elements for PAX6 Gene
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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH11I031809 | Promoter/Enhancer | 1.9 | EPDnew Ensembl ENCODE dbSUPER | 550.4 | +5.6 | 5625 | 7.8 | PKNOX1 FOXA2 SIN3A FEZF1 ZNF2 E2F8 FOS REST SMARCB1 CBX8 | PAX6-AS1 RCN1 PAX6 GC11P031817 | |
| GH11I031817 | Promoter/Enhancer | 1.2 | EPDnew ENCODE dbSUPER | 550.8 | +0.1 | 55 | 0.1 | USF1 SUZ12 CREB1 ATF2 EZH2 | GC11P031817 GC11P031819 PAX6 RCN1 PAX6-AS1 | |
| GH11I031819 | Enhancer | 0.9 | FANTOM5 ENCODE dbSUPER | 559.8 | -2.0 | -1960 | 0.4 | SUZ12 ZNF143 SIN3A EZH2 | PAX6 GC11P031819 GC11P031824 RCN1 PAX6-AS1 | |
| GH11I031818 | Enhancer | 0.5 | ENCODE dbSUPER | 550.8 | -0.8 | -806 | 0.1 | EZH2 | GC11P031819 PAX6 GC11P031817 PAX6-AS1 RCN1 | |
| GH11I031821 | Enhancer | 0.5 | ENCODE dbSUPER | 550.8 | -1.6 | -1647 | 0.2 | EZH2 | GC11P031819 PAX6 GC11P031817 GC11P031824 PAX6-AS1 RCN1 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around PAX6 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the PAX6 gene promoter:
Regulatory Element Products
Genomic Locations for PAX6 Gene
Genomic Locations for PAX6 Gene
- chr11:31,784,779-31,818,062
- (GRCh38/hg38)
- Size:
- 33,284 bases
- Orientation:
- Minus strand
- chr11:31,806,340-31,839,509
- (GRCh37/hg19)
Genomic View for PAX6 Gene
Genes around PAX6 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11p13 by Ensembl
- 11p13 by Entrez Gene
- 11p13 by HGNC
PAX6 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression 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:
-
- ENSP00000241001
- ENSP00000368403
- ENSP00000368406
- ENSP00000368410
- ENSP00000368418
- ENSP00000368424
- ENSP00000368427
- ENSP00000388132
- ENSP00000397384
- ENSP00000404100
- ENSP00000404356
- ENSP00000431585
- ENSP00000436365
- ENSP00000480026
- ENSP00000490963
- ENSP00000490971
- ENSP00000491065
- ENSP00000491210
- ENSP00000491214
- ENSP00000491229
- ENSP00000491267
- ENSP00000491280
- ENSP00000491295
- ENSP00000491324
- ENSP00000491365
- ENSP00000491492
- ENSP00000491517
- ENSP00000491679
- ENSP00000491779
- ENSP00000491862
- ENSP00000491872
- ENSP00000491904
- ENSP00000491944
- ENSP00000491948
- ENSP00000492024
- ENSP00000492081
- ENSP00000492111
- ENSP00000492129
- ENSP00000492166
- ENSP00000492177
- ENSP00000492181
- ENSP00000492205
- ENSP00000492296
- ENSP00000492315
- ENSP00000492316
- ENSP00000492397
- ENSP00000492409
- ENSP00000492437
- ENSP00000492476
- ENSP00000492587
- ENSP00000492658
- ENSP00000492756
- ENSP00000492769
- ENSP00000492802
- ENSP00000492808
- ENSP00000492822
- ENSP00000368401
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for PAX6 (Pax6)
-
Custom Antibody ServicesOriGene Antibodies for PAX6
- Novus Biologicals Antibodies for PAX6
-
Abcam antibodies for PAX6
- Invitrogen Antibodies for PAX6
- antibodies-online: Search results for 263 available PAX6 Antibodies ranked by validation data
- Compare Top PAX6 Antibodies
-
Recommended
- 1 IHC (p) Antibody (anti-mouse)
- 2 FACS Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 80 WB Antibodies (anti-mouse)
- 1 IHC Antibody (anti-human)
- 2 IF/ICC Antibodies (anti-human)
- 4 FACS Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 37 IHC (p) Antibodies (anti-human)
- 166 WB Antibodies (anti-human)
- 1 IHC (p) Antibody (anti-rat)
- 2 FACS Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 69 WB Antibodies (anti-rat)
- GeneTex PAX6 antibody for PAX6
-
Santa Cruz Biotechnology (SCBT) Antibodies for PAX6
Protein Products
-
OriGene Purified Proteins for PAX6
- Search Origene for MassSpec and Protein Over-expression Lysates for PAX6
- Origene Custom Protein Services for PAX6
- Search GeneTex for Proteins for PAX6
-
Abcam proteins for PAX6
Assay Products
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:
- ProtoNet:
Suggested Antigen Peptide Sequences for PAX6 Gene
Graphical View of Domain Structure for InterPro Entry
P26367- Family:
-
- Belongs to the paired homeobox family.
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.
Phenotypes From GWAS Catalog for PAX6 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
| 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 proximal promoter sequence-specific DNA binding | IEA | -- |
| GO:0001227 | transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding | IEA | -- |
Phenotypes for PAX6 Gene
- MGI mutant phenotypes for PAX6:
-
inferred from 42 alleles
- nervous system phenotype
- normal phenotype
- homeostasis/metabolism phenotype
- respiratory system phenotype
- muscle phenotype
- cardiovascular system phenotype
- mortality/aging
- immune system phenotype
- cellular phenotype
- behavior/neurological phenotype
- growth/size/body region phenotype
- neoplasm
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- integument phenotype
- embryo phenotype
- skeleton phenotype
- pigmentation phenotype
- renal/urinary system phenotype
- craniofacial phenotype
- taste/olfaction phenotype
- GenomeRNAi human phenotypes for PAX6:
Animal Models for PAX6 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for PAX6
-
-
ViGene Biosciences lentiviral particle packaged cDNA for PAX6 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PAX6 gene
- Search ViGene Biosciences for PAX6
CRISPR Products
-
OriGene CRISPR knockouts for PAX6
- genomics-online: gRNA clones - Search results for 161 available PAX6 gene related products
- Overview of 161 available PAX6 gene related products
- Applied Biological Materials CRISPR for PAX6
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PAX6
- GenScript: Design CRISPR guide RNA sequences for PAX6
miRNA for PAX6 Gene
- miRTarBase miRNAs that target PAX6
-
- hsa-mir-10b-5p (MIRT006925)
- hsa-mir-365a-3p (MIRT053153)
- hsa-mir-7-5p (MIRT438195)
- hsa-mir-140-5p (MIRT438364)
- hsa-mir-223-3p (MIRT438685)
- hsa-mir-653-5p (MIRT496212)
- hsa-mir-203a-3p (MIRT496213)
- hsa-mir-4289 (MIRT496214)
- hsa-mir-4478 (MIRT496215)
- hsa-mir-4419b (MIRT496216)
- hsa-mir-3929 (MIRT496217)
- hsa-mir-599 (MIRT497154)
- hsa-mir-3161 (MIRT497155)
- hsa-mir-510-3p (MIRT716587)
- hsa-mir-488-3p (MIRT716588)
- hsa-mir-3194-3p (MIRT716589)
- hsa-mir-31-3p (MIRT716590)
- hsa-mir-6728-3p (MIRT716591)
- hsa-mir-3121-5p (MIRT716592)
- hsa-mir-6834-3p (MIRT716593)
- hsa-mir-508-5p (MIRT716594)
- hsa-mir-6796-3p (MIRT716595)
- hsa-mir-3145-5p (MIRT716596)
- hsa-mir-335-3p (MIRT734114)
Targeted motifs for PAX6 Gene
HOMER Transcription Factor Regulatory Elements motif PAX6
- Consensus sequence: NGTGTTCAVTSAAGCGKAAA Submotif: canonical Cell Type: Forebrain GEO ID: GSE66961
miRNA Products
- Search ViGene Biosciences for PAX6
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for PAX6
- Browse OriGene Inhibitory RNA Products For PAX6
- genomics-online: shRNA clones - Search results for 161 available PAX6 gene related products
- Overview of 161 available PAX6 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for PAX6 gene
Clone Products
-
GenScript: Next-day shipping of latest version cDNA ORF clones for PAX6 in any vector
- NM_001310161.1
- XM_011520147.1
- XM_011520149.1
- XM_005252955.3
- NM_001604.5
- XM_006718246.2
- NM_001258465.1
- NM_001258463.1
- NM_001310159.1
- XM_011520146.1
- XM_005252954.3
- XM_011520151.1
- NM_000280.4
- XM_011520152.1
- NM_001127612.1
- XM_005252958.3
- NM_001310158.1
- NM_001310160.1
- XM_011520148.1
- XM_011520150.1
- XM_005252956.3
- NM_001258464.1
- XM_011520153.1
- NM_001258462.1
- Sino Biological Human cDNA Clone for PAX6
- VectorBuilder custom plasmid, inducible vectors for PAX6
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PAX6
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for PAX6
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for PAX6
-
ViGene Biosciences adenoviral particle packaged cDNA for PAX6 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for PAX6 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PAX6 gene
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
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| extracellular | 2 |
| cytoskeleton | 2 |
| plasma membrane | 1 |
- Nucleoplasm (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000790 | nuclear chromatin | IDA | 20592023 |
| GO:0005622 | intracellular | IEA | -- |
| GO:0005634 | nucleus | IEA,IDA | 17291498 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IDA | 17291498 |
Pathways & Interactions for PAX6 Gene
Pathways by source for PAX6 Gene
2 Sino Biological pathways for PAX6 Gene
4 BioSystems pathways for PAX6 Gene
2 KEGG pathways for PAX6 Gene
2 R&D Systems pathways for PAX6 Gene
2 Qiagen pathways for PAX6 Gene
Interacting Proteins for PAX6 Gene
Selected Interacting proteins:
ENSP00000368401
P26367-PAX6_HUMAN
for PAX6 Gene via
STRING
IID
UniProtKB
| 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 | -- |
No data available for SIGNOR curated interactions for PAX6 Gene
Transcripts for PAX6 Gene
mRNA/cDNA for PAX6 Gene
- (11) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (145) Selected AceView cDNA sequences:
- (82) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for PAX6
- genomics-online: gRNA clones - Search results for 161 available PAX6 gene related products
- Overview of 161 available PAX6 gene related products
- Applied Biological Materials CRISPR for PAX6
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PAX6
- GenScript: Design CRISPR guide RNA sequences for PAX6
miRNA Products
- Search ViGene Biosciences for PAX6
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for PAX6
- Browse OriGene Inhibitory RNA Products For PAX6
- genomics-online: shRNA clones - Search results for 161 available PAX6 gene related products
- Overview of 161 available PAX6 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for PAX6 gene
Clone Products
-
GenScript: Next-day shipping of latest version cDNA ORF clones for PAX6 in any vector
- NM_001310161.1
- XM_011520147.1
- XM_011520149.1
- XM_005252955.3
- NM_001604.5
- XM_006718246.2
- NM_001258465.1
- NM_001258463.1
- NM_001310159.1
- XM_011520146.1
- XM_005252954.3
- XM_011520151.1
- NM_000280.4
- XM_011520152.1
- NM_001127612.1
- XM_005252958.3
- NM_001310158.1
- NM_001310160.1
- XM_011520148.1
- XM_011520150.1
- XM_005252956.3
- NM_001258464.1
- XM_011520153.1
- NM_001258462.1
- Sino Biological Human cDNA Clone for PAX6
- VectorBuilder custom plasmid, inducible vectors for PAX6
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PAX6
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for PAX6
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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 | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| SP4: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
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| 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: |
Expression for PAX6 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Eye (Sensory Organs)
- Fetal Corneal Basal Epithelial Cells Corneal Epithelium
- Ocular Surface Ectoderm Cells Ocular Surface Ectoderm
- Cholinergic Amacrine Cells Ganglion Cell Layer
- AII Amacrine Cells Inner Nuclear Layer
- Transitional Lens Fiber Cells Lens
- Neural Tube (Nervous System)
- Pancreas (Endocrine System)
- Neurons
- Brain (Nervous System)
- Epithelial Cells
- NULL (Sensory Organs)
- Neural Ectoderm (Nervous System)
- Spinal Cord (Nervous System)
-
Ectoderm (Gastrulation Derivatives)
- Ocular Surface Ectoderm Cells Ocular Surface Ectoderm
- Activin-induced cells(Lu K 2013)
- Intraembryonic Ectoderm Cells Ectoderm
- Motor Neurons (Nervous System)
- Mesenchymal Stem Cells
- Bone (Muscoskeletal System)
- Tooth (Integumentary System)
-
Endothelium (Cardiovascular System)
- Endothelial Cells Blood Brain Barrier
- Mature Endothelial Cells Blood Brain Barrier
-
Glial Cells
- VA1 Fibrous Astrocyte Cells Spinal Cord White Matter
- VA2 Fibrous Astrocyte Cells Spinal Cord White Matter
- Oligodendrocytes (Nervous System)
- Dopaminergic Neurons (Nervous System)
- Inner Cell Mass (Early Embryonic Tissues)
- Intestine (Gastrointestinal Tract)
- Head Mesenchyme (Muscoskeletal System)
-
Amnion (Extraembryonic Tissues)
- Amniotic Epithelial Cells Amniotic Membrane
-
Gonad (Reproductive System)
- Primordial Germ Cells Primitive Gonad
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).
This gene is overexpressed in Retina (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PAX6 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of PAX6 Gene:
PAX6SOURCE GeneReport for Unigene cluster for PAX6 Gene:
Hs.270303mRNA 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
- Eye(4.9)
- Nervous system(4.9)
- Pancreas(4.3)
- Lung(4.2)
- Skin(2.2)
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
Primer Products
-
OriGene qPCR primer pairs for PAX6
-
OriGene qPCR primer pairs and template standards for PAX6
- genomics-online: primer clones - Search results for 161 available PAX6 gene related products
- Overview of 161 available PAX6 gene related products
Gene Expression Assay Products
Orthologs for PAX6 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PAX6 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | PAX6 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Pax6 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Pax6 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | PAX6 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | PAX6 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PAX-6 34 |
|
OneToOne | |
| PAX6 33 |
|
||||
| lizard (Anolis carolinensis) |
Reptilia | PAX6 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pax6 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC52531 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pax6b 33 34 |
|
||
| pax6a 33 34 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | ey 35 34 |
|
||
| sv 35 |
|
|
|||
| Poxn 35 |
|
|
|||
| toy 35 33 34 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000067 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | K06B9.5 35 |
|
|
|
| egl-38 35 |
|
|
|||
| K07C11.1 35 |
|
|
|||
| vab-3 35 33 34 |
|
||||
| mab-18 35 |
|
|
|||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany | |
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.14207 33 |
|
- Species where no ortholog for PAX6 was found in the sources mined by GeneCards:
-
- 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)
Paralogs for PAX6 Gene
(18) SIMAP similar genes for PAX6 Gene using alignment to 19 proteins:
Variants for PAX6 Gene
| SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1007144059 | uncertain-significance, Aniridia, Cerebellar Ataxia, And Intellectual Disability, Anophthalmia, Foveal hypoplasia and presenile cataract syndrome, Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome, Keratitis, hereditary, Aniridia, Peters anomaly | 31,806,856(-) | C/A | 5_prime_UTR_variant, genic_upstream_transcript_variant | |
| rs1021605444 | uncertain-significance, Aniridia, Cerebellar Ataxia, And Intellectual Disability, Anophthalmia, Peters anomaly, Aniridia, Foveal hypoplasia and presenile cataract syndrome, Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome, Keratitis, hereditary | 31,788,413(-) | G/A | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs1046513468 | uncertain-significance, Aniridia, Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome, Peters anomaly, Keratitis, hereditary, Foveal hypoplasia and presenile cataract syndrome, Anophthalmia, Aniridia, Cerebellar Ataxia, And Intellectual Disability | 31,786,026(-) | G/A | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs1057517780 | pathogenic, not provided, Aniridia 1 | 31,802,736(-) | CCCC/CCC/CCCCC | 5_prime_UTR_variant, coding_sequence_variant, frameshift | |
| rs1057517785 | pathogenic, not provided, Aniridia 1, Irido-corneo-trabecular dysgenesis | 31,793,521(-) | G/A | coding_sequence_variant, stop_gained |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAX6 Gene
Disorders for PAX6 Gene
(60) MalaCards diseases for PAX6 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| coloboma of optic nerve |
|
|
| foveal hypoplasia 1 |
|
|
| optic nerve hypoplasia, bilateral |
|
|
| coloboma, ocular, autosomal dominant |
|
|
| keratitis, hereditary |
|
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.
- 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}.
- 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.
- 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. {ECO:0000269 PubMed:12721955}. 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. {ECO:0000269 PubMed:7668281}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for PAX6
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for PAX6 Gene
Publications for PAX6 Gene
- A novel missense mutation (Leu46Val) of PAX6 found in an autistic patient. (PMID: 19607881) Maekawa M … Yoshikawa T (Neuroscience letters 2009) 3 22 44 58
- Molecular analysis of a human PAX6 homeobox mutant. (PMID: 16493447) D'Elia AV … Damante G (European journal of human genetics : EJHG 2006) 3 4 22 58
- PAX6 missense mutations associated in patients with optic nerve malformation. (PMID: 16604056) Nallathambi J … Sundaresan P (Molecular vision 2006) 3 22 44 58
- Missense mutations in the DNA-binding region and termination codon in PAX6. (PMID: 12552561) Chao LY … Saunders GF (Human mutation 2003) 3 4 22 58
- Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects. (PMID: 12634864) Vincent MC … Calvas P (European journal of human genetics : EJHG 2003) 3 4 22 58
Products for PAX6 Gene
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- antibodies-online: Search results for 263 available PAX6 Antibodies ranked by validation data
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