Details for: PAX6

Gene ID: 5080

Symbol: PAX6

Ensembl ID: ENSG00000007372

Description: paired box 6

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 9.4454
    Cell Significance Index: 495.9200
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 6.5704
    Cell Significance Index: 93.5300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 4.9930
    Cell Significance Index: 306.1200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 4.4885
    Cell Significance Index: 76.9200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 4.4399
    Cell Significance Index: 249.1400
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: 2.6371
    Cell Significance Index: 27.4700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 1.6040
    Cell Significance Index: 167.0100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.1006
    Cell Significance Index: 35.2500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.0488
    Cell Significance Index: 1974.7400
  • Cell Name: granule cell (CL0000120)
    Fold Change: 1.0049
    Cell Significance Index: 11.4400
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 0.9877
    Cell Significance Index: 10.9700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.9095
    Cell Significance Index: 326.2300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.8028
    Cell Significance Index: 79.4200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7477
    Cell Significance Index: 675.0900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.7372
    Cell Significance Index: 1134.9300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.6769
    Cell Significance Index: 1248.4200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.6608
    Cell Significance Index: 125.7500
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 0.6036
    Cell Significance Index: 8.4400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.4734
    Cell Significance Index: 54.0400
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.4642
    Cell Significance Index: 3.5100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4372
    Cell Significance Index: 71.1000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3930
    Cell Significance Index: 42.7500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.3731
    Cell Significance Index: 9.5900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.3418
    Cell Significance Index: 217.0900
  • Cell Name: glioblast (CL0000030)
    Fold Change: 0.3058
    Cell Significance Index: 1.9200
  • Cell Name: amacrine cell (CL0000561)
    Fold Change: 0.3050
    Cell Significance Index: 3.8200
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: 0.2863
    Cell Significance Index: 3.5700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.2212
    Cell Significance Index: 13.2800
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.2205
    Cell Significance Index: 1.8200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.2028
    Cell Significance Index: 4.3200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1805
    Cell Significance Index: 12.4900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1623
    Cell Significance Index: 10.2300
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.1507
    Cell Significance Index: 2.6100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.1428
    Cell Significance Index: 194.1900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0954
    Cell Significance Index: 66.0100
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.0741
    Cell Significance Index: 0.5700
  • Cell Name: sensory neuron (CL0000101)
    Fold Change: 0.0440
    Cell Significance Index: 0.2500
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: 0.0325
    Cell Significance Index: 0.4100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0253
    Cell Significance Index: 3.6800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0162
    Cell Significance Index: 0.5700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0090
    Cell Significance Index: 0.2600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.0074
    Cell Significance Index: 1.5500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.0029
    Cell Significance Index: 0.0400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.0027
    Cell Significance Index: 2.0100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0011
    Cell Significance Index: 0.0500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0023
    Cell Significance Index: -1.4300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0053
    Cell Significance Index: -2.9900
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: -0.0074
    Cell Significance Index: -0.0800
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0077
    Cell Significance Index: -0.3400
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0080
    Cell Significance Index: -0.1200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0092
    Cell Significance Index: -0.2000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0139
    Cell Significance Index: -6.3300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0154
    Cell Significance Index: -2.6300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0240
    Cell Significance Index: -10.6100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0247
    Cell Significance Index: -0.6900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0254
    Cell Significance Index: -18.6400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0325
    Cell Significance Index: -17.7400
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.0337
    Cell Significance Index: -0.2000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0374
    Cell Significance Index: -7.5100
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.0516
    Cell Significance Index: -0.6400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0636
    Cell Significance Index: -18.3100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0810
    Cell Significance Index: -4.9800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0825
    Cell Significance Index: -14.8700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0843
    Cell Significance Index: -16.7200
  • Cell Name: neuroblast (sensu Nematoda and Protostomia) (CL0000338)
    Fold Change: -0.1265
    Cell Significance Index: -1.1500
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1283
    Cell Significance Index: -2.8100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1299
    Cell Significance Index: -17.8400
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: -0.1375
    Cell Significance Index: -1.0000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.1377
    Cell Significance Index: -16.9300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1470
    Cell Significance Index: -18.9900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1500
    Cell Significance Index: -10.6100
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: -0.1509
    Cell Significance Index: -2.3000
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: -0.1537
    Cell Significance Index: -1.0000
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.1609
    Cell Significance Index: -1.0900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1671
    Cell Significance Index: -19.1400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1779
    Cell Significance Index: -20.7300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1821
    Cell Significance Index: -18.6000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1841
    Cell Significance Index: -21.7100
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.2121
    Cell Significance Index: -2.4100
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.2122
    Cell Significance Index: -2.5300
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.2143
    Cell Significance Index: -2.5000
  • Cell Name: astrocyte (CL0000127)
    Fold Change: -0.2307
    Cell Significance Index: -2.6400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2367
    Cell Significance Index: -18.7500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2590
    Cell Significance Index: -19.3000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2909
    Cell Significance Index: -19.5600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2961
    Cell Significance Index: -22.7300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.3134
    Cell Significance Index: -20.2200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3350
    Cell Significance Index: -17.4500
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: -0.3421
    Cell Significance Index: -3.8900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.3811
    Cell Significance Index: -17.9100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.3873
    Cell Significance Index: -18.0600
  • Cell Name: L5/6 near-projecting glutamatergic neuron (CL4030067)
    Fold Change: -0.4068
    Cell Significance Index: -2.1300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.4175
    Cell Significance Index: -21.6900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.4284
    Cell Significance Index: -18.9500
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.4515
    Cell Significance Index: -18.5000
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.4651
    Cell Significance Index: -14.7100
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: -0.4837
    Cell Significance Index: -5.6000
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: -0.5048
    Cell Significance Index: -7.0900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.5115
    Cell Significance Index: -19.3700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.5287
    Cell Significance Index: -18.5200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** PAX6 is a transcription factor that belongs to the paired box (PAX) family of genes. It is a DNA-binding protein that regulates the expression of target genes by binding to specific DNA sequences. PAX6 is characterized by its ability to activate or repress the expression of target genes, depending on the context. It is also known for its ability to interact with other transcription factors and co-regulators to regulate gene expression. **Pathways and Functions** PAX6 is involved in a wide range of biological processes, including: 1. **Central Nervous System Development**: PAX6 is essential for the development of the central nervous system, including the formation of the forebrain, midbrain, and hindbrain. 2. **Eye Development**: PAX6 is crucial for the development of the eyes, including the formation of the lens, retina, and optic nerve. 3. **Pancreas Development**: PAX6 is involved in the development of the pancreas, including the formation of islet cells and the regulation of glucose homeostasis. 4. **Cell Fate Determination**: PAX6 regulates the determination of cell fate in various tissues, including the development of neurons and other cell types. 5. **Gene Regulation**: PAX6 regulates the expression of target genes by binding to specific DNA sequences and interacting with other transcription factors and co-regulators. **Clinical Significance** PAX6 mutations have been associated with a range of developmental disorders, including: 1. **Aniridia**: A rare genetic disorder characterized by the absence or partial absence of the iris and lens. 2. **Cerebral Dysgenesis**: A condition characterized by abnormal development of the cerebral cortex and other brain structures. 3. **Pancreas Developmental Disorders**: Mutations in PAX6 have been associated with disorders of pancreas development, including pancreatic agenesis and islet cell dysplasia. 4. **Neurodevelopmental Disorders**: PAX6 mutations have also been associated with neurodevelopmental disorders, including autism spectrum disorder and intellectual disability. In conclusion, PAX6 is a critical transcription factor that plays a central role in the development and function of various tissues and organs in the body. Its mutations have been associated with a range of developmental disorders, highlighting the importance of this gene in human development and disease. Further research is needed to fully understand the mechanisms by which PAX6 regulates gene expression and to develop effective treatments for disorders associated with this gene.

Genular Protein ID: 834262227

Symbol: PAX6_HUMAN

Name: Paired box protein Pax-6

UniProtKB Accession Codes:

P26367 Q6N006 Q99413

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 2 CORUM 1 CTD 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 7 Ensembl 15 EvolutionaryTrace 1 ExpressionAtlas 1 GO 98 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 IDEAL 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 17 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 13 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PIR 1 PRINTS 1 PRO 1 PROSITE 4 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 5 RefSeq 7 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1684738

Title: Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region.

PubMed ID: 1684738

DOI: 10.1016/0092-8674(91)90284-6

PubMed ID: 1345175

Title: Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene.

PubMed ID: 1345175

DOI: 10.1038/ng1192-232

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7958875

Title: Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing.

PubMed ID: 7958875

DOI: 10.1101/gad.8.17.2022

PubMed ID: 7668281

Title: Mutation of the PAX6 gene in patients with autosomal dominant keratitis.

PubMed ID: 7668281

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19414065

Title: Expression of the homeobox genes PAX6, OTX2, and OTX1 in the early human fetal retina.

PubMed ID: 19414065

DOI: 10.1016/j.ijdevneu.2009.04.004

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 24290376

Title: Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia.

PubMed ID: 24290376

DOI: 10.1016/j.ajhg.2013.10.028

PubMed ID: 10346815

Title: Crystal structure of the human Pax-6 paired domain-DNA complex reveals specific roles for the linker region and carboxyl-terminal subdomain in DNA binding.

PubMed ID: 10346815

DOI: 10.1101/gad.13.10.1263

PubMed ID: 9482572

Title: PAX6 mutations reviewed.

PubMed ID: 9482572

DOI: 10.1002/(sici)1098-1004(1998)11:2<93::aid-humu1>3.0.co;2-m

PubMed ID: 8364574

Title: PAX6 mutations in aniridia.

PubMed ID: 8364574

DOI: 10.1093/hmg/2.7.915

PubMed ID: 8162071

Title: Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly.

PubMed ID: 8162071

DOI: 10.1038/ng0294-168

PubMed ID: 8640214

Title: PAX6 missense mutation in isolated foveal hypoplasia.

PubMed ID: 8640214

DOI: 10.1038/ng0696-141

PubMed ID: 9147640

Title: Functional analysis of paired box missense mutations in the PAX6 gene.

PubMed ID: 9147640

DOI: 10.1093/hmg/6.3.381

PubMed ID: 9281415

Title: Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations.

PubMed ID: 9281415

DOI: 10.1006/mcpr.1997.0117

PubMed ID: 9792406

Title: Ten novel mutations found in Aniridia.

PubMed ID: 9792406

DOI: 10.1002/(sici)1098-1004(1998)12:5<304::aid-humu3>3.0.co;2-d

PubMed ID: 9538891

Title: Missense mutation at the C-terminus of the PAX6 gene in ocular anterior segment anomalies.

PubMed ID: 9538891

PubMed ID: 9856761

Title: Missense mutations in the PAX6 gene in aniridia.

PubMed ID: 9856761

PubMed ID: 10441571

Title: Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies.

PubMed ID: 10441571

DOI: 10.1086/302529

PubMed ID: 10234503

Title: Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.

PubMed ID: 10234503

DOI: 10.1038/sj.ejhg.5200308

PubMed ID: 9931324

Title: Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.

PubMed ID: 9931324

DOI: 10.1093/hmg/8.2.165

PubMed ID: 10955655

Title: A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia.

PubMed ID: 10955655

DOI: 10.1007/s004170000124

PubMed ID: 10737978

Title: Mutation in the PAX6 gene in twenty patients with aniridia.

PubMed ID: 10737978

DOI: 10.1002/(sici)1098-1004(200004)15:4<332::aid-humu5>3.0.co;2-1

PubMed ID: 11553050

Title: PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.

PubMed ID: 11553050

DOI: 10.1034/j.1399-0004.2001.600210.x

PubMed ID: 11309364

Title: Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function.

PubMed ID: 11309364

DOI: 10.1093/hmg/10.9.911

PubMed ID: 11826019

Title: National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology.

PubMed ID: 11826019

DOI: 10.1136/jmg.39.1.16

PubMed ID: 12721955

Title: Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.

PubMed ID: 12721955

DOI: 10.1086/375555

PubMed ID: 12634864

Title: Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects.

PubMed ID: 12634864

DOI: 10.1038/sj.ejhg.5200940

PubMed ID: 12552561

Title: Missense mutations in the DNA-binding region and termination codon in PAX6.

PubMed ID: 12552561

DOI: 10.1002/humu.10163

PubMed ID: 16493447

Title: Molecular analysis of a human PAX6 homeobox mutant.

PubMed ID: 16493447

DOI: 10.1038/sj.ejhg.5201579

PubMed ID: 17595013

Title: A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation.

PubMed ID: 17595013

DOI: 10.1002/ajmg.a.31808

PubMed ID: 21850189

Title: Mutation spectrum of PAX6 in Chinese patients with aniridia.

PubMed ID: 21850189

PubMed ID: 24033328

Title: Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

PubMed ID: 24033328

DOI: 10.1111/cge.12275

PubMed ID: 29914532

Title: Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.

PubMed ID: 29914532

DOI: 10.1186/s13023-018-0828-0

Sequence Information:

  • Length: 422
  • Mass: 46683
  • Checksum: C33CDD2C1B13C397
  • Sequence:
    • MQNSHSGVNQ LGGVFVNGRP LPDSTRQKIV ELAHSGARPC DISRILQVSN GCVSKILGRY 
YETGSIRPRA IGGSKPRVAT PEVVSKIAQY KRECPSIFAW EIRDRLLSEG VCTNDNIPSV 
SSINRVLRNL ASEKQQMGAD GMYDKLRMLN GQTGSWGTRP GWYPGTSVPG QPTQDGCQQQ 
EGGGENTNSI SSNGEDSDEA QMRLQLKRKL QRNRTSFTQE QIEALEKEFE RTHYPDVFAR 
ERLAAKIDLP EARIQVWFSN RRAKWRREEK LRNQRRQASN TPSHIPISSS FSTSVYQPIP 
QPTTPVSSFT SGSMLGRTDT ALTNTYSALP PMPSFTMANN LPMQPPVPSQ TSSYSCMLPT 
SPSVNGRSYD TYTPPHMQTH MNSQPMGTSG TTSTGLISPG VSVPVQVPGS EPDMSQYWPR 
LQ

Genular Protein ID: 2620824631

Symbol: A0A1W2PRA8_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A1W2PRA8

Database IDs:

ARBA 5 Antibodypedia 1 Bgee 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 4 Ensembl 6 GO 4 Gene3D 1 GeneTree 1 HGNC 1 InterPro 4 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 3 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 1 Proteomes 2 ProteomicsDB 1 RefSeq 2 RuleBase 1 SAM 1 SMART 1 SUPFAM 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

Sequence Information:

  • Length: 286
  • Mass: 31769
  • Checksum: B21F60204FC01176
  • Sequence:
    • MGADGMYDKL RMLNGQTGSW GTRPGWYPGT SVPGQPTQDG CQQQEGGGEN TNSISSNGED 
SDEAQMRLQL KRKLQRNRTS FTQEQIEALE KEFERTHYPD VFARERLAAK IDLPEARIQV 
WFSNRRAKWR REEKLRNQRR QASNTPSHIP ISSSFSTSVY QPIPQPTTPV SSFTSGSMLG 
RTDTALTNTY SALPPMPSFT MANNLPMQPP VPSQTSSYSC MLPTSPSVNG RSYDTYTPPH 
MQTHMNSQPM GTSGTTSTGL ISPGVSVPVQ VPGSEPDMSQ YWPRLQ

Genular Protein ID: 4212378419

Symbol: F1T0F8_HUMAN

Name: N/A

UniProtKB Accession Codes:

F1T0F8

Database IDs:

ARBA 9 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CDD 2 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 4 ExpressionAtlas 1 GO 73 Gene3D 2 InterPro 6 NCBI Taxonomy 1 OMA 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 5 PROSITE-ProRule 1 Pfam 2 RefSeq 4 RuleBase 1 SAM 1 SMART 2 SMR 1 SUPFAM 1 VEuPathDB 1

Citations:

PubMed ID: 21697133

Title: Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method.

PubMed ID: 21697133

DOI: 10.1167/iovs.11-7479

Sequence Information:

  • Length: 436
  • Mass: 48218
  • Checksum: 74926827347A20B5
  • Sequence:
    • MQNSHSGVNQ LGGVFVNGRP LPDSTRQKIV ELAHSGARPC DISRILQTHA DAKVQVLDNQ 
NVSNGCVSKI LGRYYETGSI RPRAIGGSKP RVATPEVVSK IAQYKRECPS IFAWEIRDRL 
LSEGVCTNDN IPSVSSINRV LRNLASEKQQ MGADGMYDKL RMLNGQTGSW GTRPGWYPGT 
SVPGQPTQDG CQQQEGGGEN TNSISSNGED SDEAQMRLQL KRKLQRNRTS FTQEQIEALE 
KEFERTHYPD VFARERLAAK IDLPEARIQV WFSNRRAKWR REEKLRNQRR QASNTPSHIP 
ISSSFSTSVY QPIPQPTTPV SSFTSGSMLG RTDTALTNTY SALPPMPSFT MANNLPMQPP 
VPSQTSSYSC MLPTSPSVNG RSYDTYTPPH MQTHMNSQPM GTSGTTSTGL ISPGVSVPVQ 
VPGSEPDMSQ YWPRLQ

Genular Protein ID: 3888642616

Symbol: D1KF47_HUMAN

Name: N/A

UniProtKB Accession Codes:

D1KF47

Database IDs:

ARBA 10 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 2 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 4 Ensembl 2 GO 3 Gene3D 2 GeneTree 1 HGNC 1 InterPro 7 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 6 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 2 Proteomes 2 ProteomicsDB 1 RefSeq 1 RuleBase 1 SAM 1 SMART 2 SUPFAM 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19917615

Title: The beta subunit of voltage-gated Ca2+ channels interacts with and regulates the activity of a novel isoform of Pax6.

PubMed ID: 19917615

DOI: 10.1074/jbc.M109.022236

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

Sequence Information:

  • Length: 401
  • Mass: 44315
  • Checksum: FD3875F97EA92EF5
  • Sequence:
    • MQNSHSGVNQ LGGVFVNGRP LPDSTRQKIV ELAHSGARPC DISRILQVSN GCVSKILGRY 
YETGSIRPRA IGGSKPRVAT PEVVSKIAQY KRECPSIFAW EIRDRLLSEG VCTNDNIPSV 
SSINRVLRNL ASEKQQMGAD GMYDKLRMLN GQTGSWGTRP GWYPGTSVPG QPTQDGCQQQ 
EGGGENTNSI SSNGEDSDEA QMRLQLKRKL QRNRTSFTQE QIEALEKEFE RTHYPDVFAR 
ERLAAKIDLP EARIQVWFSN RRAKWRREEK LRNQRRQASN TPSHIPISSS FSTSVYQPIP 
QPTTPVSSFT SGSMLGRTDT ALTNTYSALP PMPSFTMANN LPMQVSAAGG GLHNPGPREV 
RSGSGPADLI GCVCTLESFS HYSDWLDQSS RRQSIPSLLS D

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.