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This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to a conserved paired box domain, a hallmark feature of this gene family, the encoded protein also contains a homeobox domain. Both domains are known to bind DNA and function as regulators of gene transcription. Activity of this protein is key in the devel... See more...
Aliases for PAX6 Gene
Aliases for PAX6 Gene
External Ids for PAX6 Gene
- HGNC: 8620
- Entrez Gene: 5080
- Ensembl: ENSG00000007372
- OMIM: 607108
- UniProtKB: P26367
Previous HGNC Symbols for PAX6 Gene
- AN1
- AN2
Previous GeneCards Identifiers for PAX6 Gene
- GC11M033407
- GC11M032586
- GC11M031849
- GC11M031775
- GC11M031768
- GC11M031501
- GC11M031806
Summaries for PAX6 Gene
-
This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to a conserved paired box domain, a hallmark feature of this gene family, the encoded protein also contains a homeobox domain. Both domains are known to bind DNA and function as regulators of gene transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. Use of alternate promoters and alternative splicing results in multiple transcript variants encoding different isoforms. Interestingly, inclusion of a particular alternate coding exon has been shown to increase the length of the paired box domain and alter its DNA binding specificity. Consequently, isoforms that carry the shorter paired box domain regulate a different set of genes compared to the isoforms carrying the longer paired box domain. [provided by RefSeq, Mar 2019]
GeneCards Summary for PAX6 Gene
PAX6 (Paired Box 6) is a Protein Coding gene. Diseases associated with PAX6 include Coloboma Of Optic Nerve and Foveal Hypoplasia 1. Among its related pathways are Regulation of beta-cell development and Ectoderm Differentiation. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is PAX7.
UniProtKB/Swiss-Prot Summary for PAX6 Gene
-
Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity). Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains (By similarity). Isoform 5a appears to function as a molecular switch that specifies target genes.
Additional gene information for PAX6 Gene
- HGNC(8620)
- Entrez Gene(5080)
- Ensembl(ENSG00000007372)
- OMIM(607108)
- UniProtKB(P26367)
- Open Targets Platform(ENSG00000007372)
- Monarch Initiative
- Search for PAX6 at DataMed
- Search for PAX6 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PAX6 Gene
Genomics for PAX6 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PAX6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around PAX6 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PAX6
- Top Transcription factor binding sites by QIAGEN in the PAX6 gene promoter:
-
- PPAR-gamma1
- PPAR-gamma2
Genomic Locations for PAX6 Gene
Genomic Locations for PAX6 Gene
- chr11:31,784,779-31,817,961
- (GRCh38/hg38)
- Size:
- 33,183 bases
- Orientation:
- Minus strand
- chr11:31,806,340-31,839,509
- (GRCh37/hg19)
- Size:
- 33,170 bases
- Orientation:
- Minus strand
Genomic View for PAX6 Gene
Genes around PAX6 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11p13 by HGNC
- 11p13 by Entrez Gene
- 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:
-
- ENSP00000480026
- ENSP00000492024
- ENSP00000492658
- ENSP00000404100
- ENSP00000495109
- ENSP00000492315
- ENSP00000491295
- ENSP00000368427
- ENSP00000368403
- ENSP00000368424
- ENSP00000490963
- ENSP00000492316
- ENSP00000368401
- ENSP00000492476
- ENSP00000491872
- ENSP00000491948
- ENSP00000492769
- ENSP00000241001
- ENSP00000490971
- ENSP00000491944
- ENSP00000492166
- ENSP00000492205
- ENSP00000492756
- ENSP00000492181
- ENSP00000492822
- ENSP00000492587
- ENSP00000388132
- ENSP00000491324
- ENSP00000491214
- ENSP00000492397
- ENSP00000368406
- ENSP00000491862
- ENSP00000491365
- ENSP00000368418
- ENSP00000431585
- ENSP00000491065
- ENSP00000492177
- ENSP00000491904
- ENSP00000491280
- ENSP00000492802
- ENSP00000492437
- ENSP00000491267
- ENSP00000368410
- ENSP00000491210
- ENSP00000492808
- ENSP00000491517
- ENSP00000404356
- ENSP00000492081
- ENSP00000491229
- ENSP00000491779
- ENSP00000491679
- ENSP00000491492
- ENSP00000492129
- ENSP00000492409
- ENSP00000397384
- ENSP00000492111
- ENSP00000436365
- REFSEQ proteins:
-
- NP_000271.1
- NP_001121084.1
- NP_001245391.1
- NP_001245392.1
- NP_001245393.1
- NP_001245394.1
- NP_001297087.1
- NP_001297088.1
- NP_001297089.1
- NP_001297090.1
- NP_001355816.1
- NP_001355817.1
- NP_001355818.1
- NP_001355819.1
- NP_001355820.1
- NP_001355821.1
- NP_001355822.1
- NP_001355823.1
- NP_001355828.1
- NP_001355829.1
- NP_001355830.1
- NP_001355831.1
- NP_001355832.1
- NP_001355833.1
- NP_001355834.1
- NP_001355835.1
- NP_001355836.1
- NP_001355837.1
- NP_001355838.1
- NP_001355839.1
- NP_001355840.1
- NP_001355841.1
- NP_001355842.1
- NP_001355843.1
- NP_001355844.1
- NP_001355845.1
- NP_001355846.1
- NP_001355847.1
- NP_001355848.1
- NP_001355849.1
- NP_001355850.1
- NP_001355851.1
- NP_001355852.1
- NP_001355853.1
- NP_001355854.1
- NP_001355855.1
- NP_001355856.1
- NP_001355857.1
- NP_001355858.1
- NP_001355859.1
- NP_001595.2
Antibody Products
- G Biosciences Immunotag™ Pax-6 Antibody and Immunotag™ PAX6 Antibody
- NSJ Bioreagents PAX6 Antibody
- Creative Diagnostics Anti-PAX6 monoclonal antibody, clone QBY6J437
-
Custom Antibody ServicesOriGene Antibodies for PAX6
- Novus Biologicals Antibodies for PAX6
-
Abcam antibodies for PAX6
- Invitrogen Antibodies for PAX6 (AFLGC-Pax6)
- antibodies-online: Show 71 available PAX6 Antibodies ranked by validation data
- Compare Top PAX6 Antibodies
-
Recommended
- 100 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 2 FACS Antibodies (anti-rat)
- 2 IHC (fro) Antibodies (anti-rat)
- 2 IHC (p) Antibodies (anti-rat)
- 213 WB Antibodies (anti-human)
- 36 IHC (p) Antibodies (anti-human)
- 21 IHC (f) Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 6 FACS Antibodies (anti-human)
- 4 IHC Antibodies (anti-human)
- 2 IHC (fro) Antibodies (anti-human)
- 116 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 2 FACS Antibodies (anti-mouse)
- 2 IHC (fro) Antibodies (anti-mouse)
- 2 IHC (p) Antibodies (anti-mouse)
-
Santa Cruz Biotechnology (SCBT) Antibodies for PAX6
Protein Products
- Creative Biomart Recombinant Human PAX6
- Search Origene for MassSpec and Protein Over-expression Lysates for PAX6
- Origene Custom Protein Services for PAX6
-
Abcam proteins for PAX6
Assay Products
- Creative Diagnostics Human PAX6 ELISA Matched Antibody Pair
- antibodies-online: Show 9 available PAX6 Elisa Kits ranked by validation data
- Compare Top PAX6 Elisa Kits
-
Quality Products:
-
Signalway ELISA kits for PAX6
No data available for DME Specific Peptides for PAX6 Gene
Domains & Families for PAX6 Gene
Gene Families for PAX6 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Predicted membrane proteins
- Transcription factors
Protein Domains for PAX6 Gene
- InterPro:
- Blocks:
-
- Paired box protein, N-terminal
- ProtoNet:
Suggested Antigen Peptide Sequences for PAX6 Gene
- GenScript: Design optimal peptide antigens:
-
- Paired box protein 6 isoform c (D1KF47_HUMAN)
- Paired box gene 6 (Aniridia, keratitis), isoform CRA_a (D3DQZ8_HUMAN)
- Paired box 6 (E5LBD7_HUMAN)
- Paired box protein Pax-6 (F1T0F8_HUMAN)
- Oculorhombin (PAX6_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P26367- 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 | DNA-binding transcription factor activity, RNA polymerase II-specific | IDA,ISM | 19274049 |
| GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IEA | -- |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA | -- |
Phenotypes for PAX6 Gene
- MGI mutant phenotypes for PAX6:
-
inferred from 42 alleles
- nervous system phenotype
- immune system phenotype
- respiratory system phenotype
- normal phenotype
- cardiovascular system phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- renal/urinary system phenotype
- neoplasm
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- skeleton phenotype
- integument phenotype
- embryo phenotype
- pigmentation 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
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PAX6 - Select products 50% OFF >
- * PAX6 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PAX6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PAX6
-
Santa Cruz Biotechnology (SCBT) CRISPR for PAX6
miRNA for PAX6 Gene
- miRTarBase miRNAs that target PAX6
-
- hsa-miR-10b-5p (MIRT006925)
- hsa-miR-365a-3p (MIRT053153)
- mmu-miR-295-5p (MIRT053239)
- mmu-miR-294-5p (MIRT053240)
- mmu-miR-291a-3p (MIRT053241)
- 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)
- mmu-miR-7a-5p (MIRT733298)
- 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
Clone Products
- Applied Biological Materials (abm): Clones for PAX6 - Select products 50% OFF >
- * PAX6 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG227546
- MR227546
- MR227546L3
- MR227546L4
- MR229831
- MR229832
- MR229905
- MR229906
- RC203815
- RC203815L1
- RC203815L2
- RC203815L3
- RC203815L4
- RC222644
- RC222644L1
- RC222644L2
- RC222644L3
- RC222644L4
- RC225676
- RC225676L3
- RC225676L4
- RC232693
- RC232694
- RC232724
- RC232725
- RG203815
- RG222644
- RG225676
- RG232693
- RG232694
- RG232724
- RG232725
- RR214647
- RR214647L3
- RR214647L4
- MR227546L3V
- MR227546L4V
- RC203815L1V
- RC203815L2V
- RC203815L3V
- RC203815L4V
- RC222644L1V
- RC222644L2V
- RC222644L3V
- RC222644L4V
- RC225676L3V
- RC225676L4V
- RR214647L3V
- RR214647L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PAX6
- Addgene plasmids for PAX6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PAX6
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 | 3 |
| cytoskeleton | 3 |
| plasma membrane | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000790 | nuclear chromatin | IDA,ISA | -- |
| GO:0005623 | cell | IEA | -- |
| GO:0005634 | nucleus | IEA,IDA | 17291498 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IDA | 17291498 |
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
- ERK Signaling
- Transcriptional Regulatory Network in Embryonic Stem Cell
Interacting Proteins for PAX6 Gene
Selected Interacting proteins:
P26367-PAX6_HUMAN
ENSP00000404100
for PAX6 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for PAX6
SIGNOR curated interactions for PAX6 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
| GO:0000132 | establishment of mitotic spindle orientation | IEA | -- |
| GO:0001568 | blood vessel development | IMP | 7550230 |
| GO:0001654 | eye development | TAS | 10747901 |
| GO:0001709 | cell fate determination | IEA | -- |
Drugs & Compounds for PAX6 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug Products
- Creative Biomart Recombinant Human PAX6
Transcripts for PAX6 Gene
mRNA/cDNA for PAX6 Gene
- 51 REFSEQ mRNAs :
- 42 NCBI additional mRNA sequence :
- 82 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000241001 1736 nts (view in UCSC)
- ENST00000379107 2579 nts (view in UCSC)
- ENST00000379109 3182 nts (view in UCSC)
- ENST00000379111 1718 nts (view in UCSC)
- ENST00000379115 1531 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PAX6 - Select products 50% OFF >
- * PAX6 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PAX6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PAX6
-
Santa Cruz Biotechnology (SCBT) CRISPR 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
Clone Products
- Applied Biological Materials (abm): Clones for PAX6 - Select products 50% OFF >
- * PAX6 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG227546
- MR227546
- MR227546L3
- MR227546L4
- MR229831
- MR229832
- MR229905
- MR229906
- RC203815
- RC203815L1
- RC203815L2
- RC203815L3
- RC203815L4
- RC222644
- RC222644L1
- RC222644L2
- RC222644L3
- RC222644L4
- RC225676
- RC225676L3
- RC225676L4
- RC232693
- RC232694
- RC232724
- RC232725
- RG203815
- RG222644
- RG225676
- RG232693
- RG232694
- RG232724
- RG232725
- RR214647
- RR214647L3
- RR214647L4
- MR227546L3V
- MR227546L4V
- RC203815L1V
- RC203815L2V
- RC203815L3V
- RC203815L4V
- RC222644L1V
- RC222644L2V
- RC222644L3V
- RC222644L4V
- RC225676L3V
- RC225676L4V
- RR214647L3V
- RR214647L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PAX6
- Addgene plasmids for PAX6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PAX6
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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Relevant External Links for PAX6 Gene
- GeneLoc Exon Structure for
- PAX6
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
- spinal cord/lateral wall/ventricular layer
-
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PAX6
SOURCE 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
- Nervous system(4.9)
- Eye(4.9)
- Lung(4.5)
- Pancreas(4.4)
- Skin(3.3)
- Blood(2.6)
- Muscle(2.4)
- Stomach(2.4)
- Heart(2.3)
- Intestine(2.2)
- Kidney(2.2)
- Liver(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PAX6 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- immune
- integumentary
- nervous
- reproductive
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- skull
Abdomen:
- kidney
Pelvis:
- penis
- testicle
- urethra
General:
- peripheral nervous system
- skin
Primer Products
-
OriGene qPCR primer pairs for PAX6
-
OriGene qPCR primer pairs and template standards for PAX6
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 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PAX6 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Pax6 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Pax6 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PAX6 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | PAX6 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | PAX-6 31 |
|
OneToOne | |
| PAX6 30 |
|
||||
| Lizard (Anolis carolinensis) |
Reptilia | PAX6 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pax6 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC52531 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | pax6b 30 31 |
|
OneToMany | |
| pax6a 30 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | sv 32 |
|
|
|
| Poxn 32 |
|
|
|||
| toy 30 31 32 |
|
ManyToMany | |||
| ey 31 32 |
|
ManyToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000067 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | K06B9.5 32 |
|
|
|
| egl-38 32 |
|
|
|||
| K07C11.1 32 |
|
|
|||
| vab-3 30 31 32 |
|
OneToMany | |||
| mab-18 32 |
|
|
|||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.14207 30 |
|
- Species where no ortholog for PAX6 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- Dog (Canis familiaris)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for PAX6 Gene
- ENSEMBL:
- Gene Tree for PAX6 (if available)
- TreeFam:
- Gene Tree for PAX6 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PAX6: view image
Paralogs for PAX6 Gene
Paralogs for PAX6 Gene
- PAX7 5
- PAX3 5
- PAX4 5
- PAX8 5
- PAX2 5
- PAX5 5
- PAX1 5
- PAX9 5
- ARX 5
- VSX2 5
- NOBOX 5
- ALX3 5
- OTX2 5
- OTX1 5
- RAX 5
- PHOX2A 5
- EVX1 5
- UNCX 5
- DRGX 5
- ALX4 5
- PRRX1 5
- OTP 5
- DMBX1 5
- ALX1 5
- DUX4 5
- EVX2 5
- PHOX2B 5
- PRRX2 5
- CRX 5
- PITX1 5
- ESX1 5
- SHOX2 5
- GSC 5
- ISX 5
- SHOX 5
- MIXL1 5
- PITX2 5
- RAX2 5
- PROP1 5
- PITX3 5
- HESX1 5
- GSC2 5
- ARGFX 5
- RHOXF2 5
- RHOXF2B 5
- DUXB 5
- SEBOX 5
- RHOXF1 5
- DUXA 5
- DPRX 5
(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
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PAX6 Gene
| SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 637045 | Pathogenic: Aniridia 1 | 31,802,733(-) | G/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
| 638055 | Pathogenic: Coloboma of optic disc | 31,789,935(-) | TACTGTAA/T | FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT | |
| 648737 | Uncertain Significance: Irido-corneo-trabecular dysgenesis; Aniridia 1 | 31,794,680(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 651977 | Pathogenic: Irido-corneo-trabecular dysgenesis; Aniridia 1 | 31,802,732(-) | CG/C | FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
| 658913 | Pathogenic: Irido-corneo-trabecular dysgenesis; Aniridia 1 | 31,802,809(-) | AC/A | FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT |
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
(103) MalaCards diseases for PAX6 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| coloboma of optic nerve |
|
|
| foveal hypoplasia 1 |
|
|
| optic nerve hypoplasia, bilateral |
|
|
| keratitis, hereditary |
|
|
| aniridia 1 |
|
Search PAX6 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
PAX6_HUMAN- Aniridia 1 (AN1) [MIM:106210]: A congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time. {ECO:0000269 PubMed:10234503, ECO:0000269 PubMed:10737978, ECO:0000269 PubMed:11309364, ECO:0000269 PubMed:11553050, ECO:0000269 PubMed:11826019, ECO:0000269 PubMed:12552561, ECO:0000269 PubMed:12634864, ECO:0000269 PubMed:16493447, ECO:0000269 PubMed:17595013, ECO:0000269 PubMed:21850189, ECO:0000269 PubMed:24033328, ECO:0000269 PubMed:8364574, ECO:0000269 PubMed:9147640, ECO:0000269 PubMed:9281415, ECO:0000269 PubMed:9792406, ECO:0000269 PubMed:9856761, ECO:0000269 PubMed:9931324, ECO:0000269 Ref.27, ECO:0000269 Ref.28}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Anterior segment dysgenesis 5 (ASGD5) [MIM:604229]: A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. {ECO:0000269 PubMed:10441571, ECO:0000269 PubMed:12721955, ECO:0000269 PubMed:8162071}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Foveal hypoplasia 1 (FVH1) [MIM:136520]: An isolated form of foveal hypoplasia, a developmental defect of the eye defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Clinical features include absence of foveal pit on optical coherence tomography, absence of foveal hyperpigmentation, absence of foveal avascularity, absence of foveal and macular reflexes, decreased visual acuity, and nystagmus. Anterior segment anomalies and cataract are observed in some FVH1 patients. {ECO:0000269 PubMed:8640214, ECO:0000269 PubMed:9931324}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Keratitis hereditary (KERH) [MIM:148190]: An ocular disorder characterized by corneal opacification, recurrent stromal keratitis and vascularization. {ECO:0000269 PubMed:7668281}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Coloboma, ocular, autosomal dominant (COAD) [MIM:120200]: A set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). The clinical presentation is variable. Some individuals may present with minimal defects in the anterior iris leaf without other ocular defects. More complex malformations create a combination of iris, uveoretinal and/or optic nerve defects without or with microphthalmia or even anophthalmia. {ECO:0000269 PubMed:12721955}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Coloboma of optic nerve (COLON) [MIM:120430]: An ocular defect that is due to malclosure of the fetal intraocular fissure affecting the optic nerve head. In some affected individuals, it appears as enlargement of the physiologic cup with severely affected eyes showing huge cavities at the site of the disk. {ECO:0000269 PubMed:12721955}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Bilateral optic nerve hypoplasia (BONH) [MIM:165550]: A congenital anomaly in which the optic disk appears abnormally small. It may be an isolated finding or part of a spectrum of anatomic and functional abnormalities that includes partial or complete agenesis of the septum pellucidum, other midline brain defects, cerebral anomalies, pituitary dysfunction, and structural abnormalities of the pituitary. {ECO:0000269 PubMed:12721955}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Aniridia 2 (AN2) [MIM:617141]: A form of aniridia, a congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time. {ECO:0000269 PubMed:24290376}. Note=The gene represented in this entry is involved in disease pathogenesis. A mutation in a PAX6 long-range cis-regulatory element, known as SIMO, affects PAX6 expression in the developing eye and has pathological consequences. The mutation is located in ELP4 intron 9, 150 kb downstream of PAX6. {ECO:0000269 PubMed:24290376}.
Additional Disease Information for PAX6
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for PAX6 Gene
Publications for PAX6 Gene
- Expression of the homeobox genes PAX6, OTX2, and OTX1 in the early human fetal retina. (PMID: 19414065) Larsen KB … Møller M (International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2009) 3 4 23
- A novel missense mutation (Leu46Val) of PAX6 found in an autistic patient. (PMID: 19607881) Maekawa M … Yoshikawa T (Neuroscience letters 2009) 3 23 41
- Molecular analysis of a human PAX6 homeobox mutant. (PMID: 16493447) D'Elia AV … Damante G (European journal of human genetics : EJHG 2006) 3 4 23
- PAX6 missense mutations associated in patients with optic nerve malformation. (PMID: 16604056) Nallathambi J … Sundaresan P (Molecular vision 2006) 3 23 41
- Association studies of variants in the genes involved in pancreatic beta-cell function in type 2 diabetes in Japanese subjects. (PMID: 16873704) Yokoi N … Seino S (Diabetes 2006) 3 23 41
ExternalLinks
Products for PAX6 Gene
- Custom Antibody ServicesOriGene Antibodies for PAX6
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for PAX6
- Origene Custom Protein Services for PAX6
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PAX6
- Browse OriGene Inhibitory RNA Products For PAX6
- OriGene qPCR primer pairs for PAX6
- OriGene qPCR primer pairs and template standards for PAX6
- OriGene CRISPR knockouts for PAX6