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 Transcriptional Regulatory Network in Embryonic Stem Cell and Incretin synthesis, secretion, and inactivation. 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH11J031809 | Promoter/Enhancer | 1.9 | EPDnew Ensembl ENCODE dbSUPER | 650.4 | +5.6 | 5625 | 7.8 | PKNOX1 FOXA2 SIN3A FEZF1 ZNF2 E2F8 FOS REST SMARCB1 ZNF610 | ENSG00000285283 PAX6-AS1 PAUPAR PAX6 GC11P031818 | |
| GH11J031817 | Promoter/Enhancer | 1.2 | EPDnew ENCODE dbSUPER | 650.7 | +0.1 | 55 | 0.1 | USF1 SUZ12 CREB1 ATF2 EZH2 | PAX6 GC11P031819 GC11P031818 PAUPAR PAX6-AS1 ENSG00000285283 | |
| GH11J031813 | Promoter/Enhancer | 1.2 | EPDnew ENCODE dbSUPER | 650.4 | +14.1 | 14084 | 0.3 | SP1 POLR2A SUZ12 IKZF1 NFE2 SPI1 | PAX6 PAUPAR PAX6-AS1 GC11P031784 | |
| GH11J031819 | Enhancer | 0.9 | FANTOM5 ENCODE dbSUPER | 659.7 | -2.0 | -1960 | 0.4 | SUZ12 ZNF143 SIN3A EZH2 | PAX6 GC11P031819 GC11P031824 ENSG00000285283 PAUPAR PAX6-AS1 | |
| GH11J031818 | Enhancer | 0.5 | ENCODE dbSUPER | 650.7 | -0.8 | -806 | 0.1 | EZH2 | GC11P031818 PAX6 GC11P031819 PAX6-AS1 PAUPAR ENSG00000285283 |
- 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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the PAX6 gene promoter:
-
- PPAR-gamma1
- PPAR-gamma2
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)
- 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:
-
- 11p13 by Entrez Gene
- 11p13 by HGNC
- 11p13 by Ensembl
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:
-
- ENSP00000404356
- ENSP00000492315
- ENSP00000492316
- ENSP00000492111
- ENSP00000491210
- ENSP00000491214
- ENSP00000491517
- ENSP00000491944
- ENSP00000491948
- ENSP00000241001
- ENSP00000494722
- ENSP00000368401
- ENSP00000368403
- ENSP00000368406
- ENSP00000397384
- ENSP00000492802
- ENSP00000492808
- ENSP00000492205
- ENSP00000492409
- ENSP00000431585
- ENSP00000492756
- ENSP00000492658
- ENSP00000491280
- ENSP00000368410
- ENSP00000368418
- ENSP00000492437
- ENSP00000404100
- ENSP00000495109
- ENSP00000492397
- ENSP00000492296
- ENSP00000368424
- ENSP00000368427
- ENSP00000491324
- ENSP00000491229
- ENSP00000491295
- ENSP00000490971
- ENSP00000491492
- ENSP00000480026
- ENSP00000492822
- ENSP00000492129
- ENSP00000492024
- ENSP00000492177
- ENSP00000492476
- ENSP00000492181
- ENSP00000492081
- ENSP00000492587
- ENSP00000491862
- ENSP00000491365
- ENSP00000491267
- ENSP00000491065
- ENSP00000490963
- ENSP00000388132
- ENSP00000492166
- ENSP00000492769
- ENSP00000491904
- ENSP00000491872
- ENSP00000491779
- ENSP00000491679
- ENSP00000436365
- 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 (AFLGC-PAX6)
- antibodies-online: Search results for 263 available PAX6 Antibodies ranked by validation data
- Compare Top PAX6 Antibodies
-
Recommended
- 69 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 2 FACS Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
- 166 WB Antibodies (anti-human)
- 37 IHC (p) Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 4 FACS Antibodies (anti-human)
- 2 IF/ICC Antibodies (anti-human)
- 1 IHC Antibody (anti-human)
- 80 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 2 FACS Antibodies (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 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
- 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
| 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 | RNA polymerase II transcription factor activity, sequence-specific DNA binding | IDA,NAS | 19274049 |
| 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
- cardiovascular system phenotype
- respiratory system phenotype
- pigmentation phenotype
- vision/eye phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- neoplasm
- integument phenotype
- taste/olfaction phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- muscle phenotype
- craniofacial phenotype
- reproductive system phenotype
- skeleton phenotype
- embryo phenotype
- normal phenotype
- hearing/vestibular/ear phenotype
- renal/urinary system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for PAX6:
-
- Dynamic nuclei (hole, folded or small irregular)
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased NF-kappaB reporter expression
- Increased viability
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
-
CRISPR Products
-
OriGene CRISPR knockouts for PAX6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products 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
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PAX6
- Browse OriGene Inhibitory RNA Products For PAX6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PAX6
- genomics-online: shRNA clones - Search results for 161 available PAX6 gene related products
- Overview of 161 available PAX6 gene related products
Clone Products
-
OriGene ORF clones in human for PAX6
- RC203815
- RC203815L1
- RC203815L2
- RC203815L3
- RC203815L4
- RC222644
- RC222644L1
- RC222644L2
- RC222644L3
- RC222644L4
- RC225676
- RC225676L1
- RC225676L2
- RC225676L3
- RC225676L4
- RC232693
- RC232694
- RC232724
- RC232725
- RG203815
- RG222644
- RG225676
- RG232693
- RG232694
- RG232724
- RG232725
- RC203815L1V
- RC203815L2V
- RC203815L3V
- RC203815L4V
- RC222644L1V
- RC222644L2V
- RC222644L3V
- RC222644L4V
- RC225676L1V
- RC225676L2V
- RC225676L3V
- RC225676L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PAX6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PAX6
- 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
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 | IDA,IEA | 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:
P26367-PAX6_HUMAN
ENSP00000368401
for PAX6 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for PAX6
| 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:
- (84) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000606377 6901 bps (uc021qfl.1)
- ENST00000640368 6975 bps
- ENST00000419022 6888 bps (uc021qfm.1)
- ENST00000643871 6944 bps
- ENST00000638914 7290 bps
CRISPR Products
-
OriGene CRISPR knockouts for PAX6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products 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
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PAX6
- Browse OriGene Inhibitory RNA Products For PAX6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PAX6
- genomics-online: shRNA clones - Search results for 161 available PAX6 gene related products
- Overview of 161 available PAX6 gene related products
Clone Products
-
OriGene ORF clones in human for PAX6
- RC203815
- RC203815L1
- RC203815L2
- RC203815L3
- RC203815L4
- RC222644
- RC222644L1
- RC222644L2
- RC222644L3
- RC222644L4
- RC225676
- RC225676L1
- RC225676L2
- RC225676L3
- RC225676L4
- RC232693
- RC232694
- RC232724
- RC232725
- RG203815
- RG222644
- RG225676
- RG232693
- RG232694
- RG232724
- RG232725
- RC203815L1V
- RC203815L2V
- RC203815L3V
- RC203815L4V
- RC222644L1V
- RC222644L2V
- RC222644L3V
- RC222644L4V
- RC225676L1V
- RC225676L2V
- RC225676L3V
- RC225676L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PAX6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PAX6
- 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 | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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: |
Expression for PAX6 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Eye (Sensory Organs)
- Glycinergic Amacrine Cells Inner Nuclear Layer
- Late Amacrine Horizontal Precursor Cells Retinal Neuroblastic Layer
- SEG Amacrine Cells Inner Nuclear Layer
- Anterior Lens Epithelial Cells Lens
- nGnG Amacrine Cells Inner Nuclear Layer
-
Neural Tube (Nervous System)
- Lateral Ganglionic Eminence Progenitor Cells Lateral Ganglionic Eminence
- Medial Hinge Point Cells Primitive Spinal Cord
- Astrocyte Precursor Cells pV2 Neural Domain
- d5 Neural Progenitor Cells dP5 Neural Domain
- Early MN Progenitor Cells Motor Neural Progenitor Domain
-
Pancreas (Endocrine System)
- Pancreatic Polypeptide Cells Islets of Langerhans
- Immature Beta Progenitor Cells Dorsal Pancreatic Bud
- Alpha Progenitor Cells Dorsal Pancreatic Bud
- Endocrine Progenitor Cells Dorsal Pancreatic Bud
- Bipotent Endocrine/Duct Progenitor Cells Dorsal Pancreatic Bud
-
Neurons
- Glycinergic Amacrine Cells Inner Nuclear Layer
- Late Amacrine Horizontal Precursor Cells Retinal Neuroblastic Layer
- SEG Amacrine Cells Inner Nuclear Layer
- nGnG Amacrine Cells Inner Nuclear Layer
- Cholinergic Amacrine Cells Inner Nuclear Layer
-
Brain (Nervous System)
- Lateral Ganglionic Eminence Progenitor Cells Lateral Ganglionic Eminence
- d5 Neural Progenitor Cells dP5 Neural Domain
- d4 Neural Progenitor Cells dP4 Neural Domain
- Mature Endothelial Cells Blood Brain Barrier
- Caudal Ganglionic Eminence Progenitor Cells Caudal Ganglionic Eminence
-
Epithelial Cells
- Anterior Lens Epithelial Cells Lens
- Endocrine Progenitor Cells Dorsal Pancreatic Bud
- Bipotent Endocrine/Duct Progenitor Cells Dorsal Pancreatic Bud
- Fetal Corneal Superficial Epithelial Cells Corneal Epithelium
- Duct Progenitor Cells Dorsal Pancreatic Bud
- NULL (Nervous System)
-
Neural Ectoderm (Nervous System)
- Medial Hinge Point Cells Primitive Spinal Cord
- Dorsolateral Hinge Point Cells Primitive Spinal Cord
- Dorsolateral Hinge Point Cells Prosencephalon
- Medial Hinge Point Cells Prosencephalon
- Cranial Neural Plate Cells Neural Plate
-
Spinal Cord (Nervous System)
- Early MN Progenitor Cells Motor Neural Progenitor Domain
- VA2 Fibrous Astrocyte Cells Spinal Cord White Matter
- Motor Neural Progenitor Cells Motor Neural Progenitor Domain
- VA1 Fibrous Astrocyte Cells Spinal Cord White Matter
- Motor neuron progenitors(Di Giorgio FP et. al. 2008)
-
Ectoderm (Gastrulation Derivatives)
- Intraembryonic Ectoderm Cells Ectoderm
- Ocular Surface Ectoderm Cells Ocular Surface Ectoderm
- Activin-induced cells(Lu K 2013)
-
Glial Cells
- VA2 Fibrous Astrocyte Cells Spinal Cord White Matter
- VA1 Fibrous Astrocyte Cells Spinal Cord White Matter
-
Endothelium (Cardiovascular System)
- Mature Endothelial Cells Blood Brain Barrier
- Endothelial Cells Blood Brain Barrier
- Tooth (Integumentary System)
- Bone (Muscoskeletal System)
- Mesenchymal Stem Cells
- Motor Neurons (Nervous System)
-
Gonad (Reproductive System)
- Primordial Germ Cells Primitive Gonad
-
Amnion (Extraembryonic Tissues)
- Amniotic Epithelial Cells Amniotic Membrane
- Head Mesenchyme (Muscoskeletal System)
- Intestine (Gastrointestinal Tract)
- Inner Cell Mass (Early Embryonic Tissues)
- Dopaminergic Neurons (Nervous System)
- Oligodendrocytes (Nervous System)
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, 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 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | PAX6 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Pax6 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Pax6 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | PAX6 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
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 34 33 |
|
OneToMany | |
| pax6a 34 33 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | sv 35 |
|
|
|
| Poxn 35 |
|
|
|||
| toy 34 35 33 |
|
ManyToMany | |||
| ey 34 35 |
|
ManyToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000067 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | K06B9.5 35 |
|
|
|
| egl-38 35 |
|
|
|||
| K07C11.1 35 |
|
|
|||
| vab-3 34 35 33 |
|
OneToMany | |||
| mab-18 35 |
|
|
|||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany | |
| Cin.14207 33 |
|
||||
| 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)
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
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.
- 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
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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