Functions and Diseases

RBP Type Non-canonical_RBPs
Diseases Disease
Drug N.A.
Main interacting RNAs N.A.
Moonlighting functions TF
Localizations N.A.
BulkPerturb-seq

Description

Ensembl ID ENSG00000007372 Gene ID 5080 Accession 8620
Symbol PAX6 Alias AN;AN1;AN2;FVH1;MGDA;WAGR;ASGD5;D11S812E Full Name paired box 6
Status Confidence Length 33183 bases Strand Minus strand
Position 11 : 31784779 - 31817961 RNA binding domain N.A.
Summary 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]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal
30667104 LncRNA Riken-201 and Riken-203 modulates neural development by regulating the Sox6 through sequestering miRNAs. Lei Zhang 2019-05-01 Cell proliferation
33544864 PAUPAR and PAX6 sequentially regulate human embryonic stem cell cortical differentiation. Yanxin Xu 2021-02-26 Nucleic acids research
34206504 The lncRNAs in HBV-Related HCCs: Targeting Chromatin Dynamics and Beyond. Vincenzo Alfano 2021-06-22 Cancers
30999923 OCT4 and PAX6 determine the dual function of SOX2 in human ESCs as a key pluripotent or neural factor. Shuchen Zhang 2019-04-18 Stem cell research & therapy

Transcripts

Name Transcript ID bp Protein Translation ID
PAX6-230 ENST00000606377 6888 436aa ENSP00000480026
PAX6-253 ENST00000639386 6509 286aa ENSP00000492658
PAX6-209 ENST00000419022 6888 436aa ENSP00000404100
PAX6-281 ENST00000643871 6944 422aa ENSP00000495109
PAX6-243 ENST00000638914 6922 436aa ENSP00000492315
PAX6-271 ENST00000640610 2730 422aa ENSP00000491295
PAX6-208 ENST00000379132 2576 422aa ENSP00000368427
PAX6-203 ENST00000379109 3182 422aa ENSP00000368403
PAX6-207 ENST00000379129 2614 436aa ENSP00000368424
PAX6-257 ENST00000639916 2622 422aa ENSP00000490963
PAX6-268 ENST00000640368 2743 436aa ENSP00000492024
PAX6-235 ENST00000638685 2372 302aa ENSP00000492316
PAX6-202 ENST00000379107 2579 436aa ENSP00000368401
PAX6-255 ENST00000639409 2450 436aa ENSP00000492476
PAX6-280 ENST00000640975 2553 436aa ENSP00000491872
PAX6-244 ENST00000638963 1580 473aa ENSP00000491948
PAX6-245 ENST00000638965 979 221aa ENSP00000492769
PAX6-201 ENST00000241001 1736 422aa ENSP00000241001
PAX6-216 ENST00000474783 4392 No protein -
PAX6-234 ENST00000638629 2844 286aa ENSP00000490971
PAX6-256 ENST00000639548 1417 286aa ENSP00000491944
PAX6-262 ENST00000640125 1375 286aa ENSP00000492166
PAX6-217 ENST00000481563 1587 286aa ENSP00000492205
PAX6-236 ENST00000638696 1203 400aa ENSP00000492756
PAX6-237 ENST00000638755 1161 386aa ENSP00000492181
PAX6-214 ENST00000470027 3587 No protein -
PAX6-266 ENST00000640287 1485 422aa ENSP00000492822
PAX6-227 ENST00000533333 6173 No protein -
PAX6-272 ENST00000640613 1525 368aa ENSP00000492587
PAX6-210 ENST00000423822 1521 367aa ENSP00000388132
PAX6-249 ENST00000639061 1473 283aa ENSP00000491324
PAX6-276 ENST00000640766 1797 283aa ENSP00000491214
PAX6-279 ENST00000640963 1267 382aa ENSP00000492397
PAX6-215 ENST00000471303 2423 No protein -
PAX6-204 ENST00000379111 1718 419aa ENSP00000368406
PAX6-260 ENST00000639950 2133 419aa ENSP00000491862
PAX6-213 ENST00000464174 846 No protein -
PAX6-218 ENST00000494377 1911 No protein -
PAX6-231 ENST00000638250 1483 282aa ENSP00000491365
PAX6-206 ENST00000379123 1923 282aa ENSP00000368418
PAX6-261 ENST00000640038 781 No protein -
PAX6-219 ENST00000524853 2221 417aa ENSP00000431585
PAX6-278 ENST00000640872 2367 281aa ENSP00000491065
PAX6-254 ENST00000639394 1988 163aa ENSP00000492177
PAX6-275 ENST00000640735 2060 No protein -
PAX6-251 ENST00000639109 2734 277aa ENSP00000491904
PAX6-240 ENST00000638853 1248 277aa ENSP00000491280
PAX6-270 ENST00000640460 1736 413aa ENSP00000492802
PAX6-242 ENST00000638913 2390 No protein -
PAX6-239 ENST00000638802 1505 263aa ENSP00000492437
PAX6-233 ENST00000638346 1863 260aa ENSP00000491267
PAX6-221 ENST00000530373 785 No protein -
PAX6-205 ENST00000379115 1531 335aa ENSP00000368410
PAX6-246 ENST00000639006 1507 249aa ENSP00000491210
PAX6-248 ENST00000639054 2254 No protein -
PAX6-267 ENST00000640335 964 205aa ENSP00000492808
PAX6-238 ENST00000638762 2580 238aa ENSP00000491517
PAX6-211 ENST00000438681 1395 320aa ENSP00000404356
PAX6-241 ENST00000638878 1369 231aa ENSP00000492081
PAX6-259 ENST00000639943 2584 314aa ENSP00000491229
PAX6-269 ENST00000640431 2037 370aa ENSP00000491779
PAX6-225 ENST00000532916 627 No protein -
PAX6-247 ENST00000639034 1794 401aa ENSP00000491679
PAX6-223 ENST00000531910 1958 No protein -
PAX6-263 ENST00000640172 2525 No protein -
PAX6-274 ENST00000640684 1557 415aa ENSP00000491492
PAX6-250 ENST00000639079 2608 263aa ENSP00000492129
PAX6-264 ENST00000640242 1298 341aa ENSP00000492409
PAX6-212 ENST00000455099 1202 241aa ENSP00000397384
PAX6-222 ENST00000530714 650 No protein -
PAX6-228 ENST00000534353 540 No protein -
PAX6-226 ENST00000533156 848 No protein -
PAX6-258 ENST00000639920 676 72aa ENSP00000492111
PAX6-229 ENST00000534390 1084 No protein -
PAX6-220 ENST00000527769 487 No protein -
PAX6-224 ENST00000532175 524 No protein -
PAX6-265 ENST00000640251 649 No protein -
PAX6-232 ENST00000638278 417 No protein -
PAX6-273 ENST00000640617 412 No protein -
PAX6-252 ENST00000639203 532 No protein -
PAX6-277 ENST00000640819 368 No protein -

Gene Model

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0000122involved_in negative regulation of transcription by RNA polymerase II1ISSHomo_sapiens(9606)Process
GO:0000132involved_in establishment of mitotic spindle orientation1IEAHomo_sapiens(9606)Process
GO:0000785part_of chromatin2IDA,ISAHomo_sapiens(9606)Component
GO:0000976enables transcription cis-regulatory region binding1ISSHomo_sapiens(9606)Function
GO:0000978enables RNA polymerase II cis-regulatory region sequence-specific DNA binding2IBA,IDAHomo_sapiens(9606)Function
GO:0000979enables RNA polymerase II core promoter sequence-specific DNA binding1IEAHomo_sapiens(9606)Function
GO:0000981enables DNA-binding transcription factor activity, RNA polymerase II-specific3IBA,IDA,ISAHomo_sapiens(9606)Function
GO:0001221enables transcription coregulator binding1ISSHomo_sapiens(9606)Function
GO:0001227enables DNA-binding transcription repressor activity, RNA polymerase II-specific1IEAHomo_sapiens(9606)Function
GO:0001228enables DNA-binding transcription activator activity, RNA polymerase II-specific1IEAHomo_sapiens(9606)Function
GO:0001568involved_in blood vessel development1IMPHomo_sapiens(9606)Process
GO:0001654involved_in eye development1TASHomo_sapiens(9606)Process
GO:0001709involved_in cell fate determination1IEAHomo_sapiens(9606)Process
GO:0001755involved_in neural crest cell migration1IEAHomo_sapiens(9606)Process
GO:0001933involved_in negative regulation of protein phosphorylation1IEAHomo_sapiens(9606)Process
GO:0002052involved_in positive regulation of neuroblast proliferation1IEAHomo_sapiens(9606)Process
GO:0002088involved_in lens development in camera-type eye1IEAHomo_sapiens(9606)Process
GO:0003309involved_in type B pancreatic cell differentiation1IEAHomo_sapiens(9606)Process
GO:0003322involved_in pancreatic A cell development1IMPHomo_sapiens(9606)Process
GO:0003677enables DNA binding1TASHomo_sapiens(9606)Function
GO:0003680enables minor groove of adenine-thymine-rich DNA binding1IEAHomo_sapiens(9606)Function
GO:0003700enables DNA-binding transcription factor activity1TASHomo_sapiens(9606)Function
GO:0003723enables RNA binding1IEAHomo_sapiens(9606)Function
GO:0005515enables protein binding1IPIHomo_sapiens(9606)Function
GO:0005634located_in nucleus1IDAHomo_sapiens(9606)Component
GO:0005654located_in nucleoplasm1IDAHomo_sapiens(9606)Component
GO:0005737located_in cytoplasm1IDAHomo_sapiens(9606)Component
GO:0005829located_in cytosol1IDAHomo_sapiens(9606)Component
GO:0006306involved_in DNA methylation1IEAHomo_sapiens(9606)Process
GO:0006338involved_in chromatin remodeling1IEAHomo_sapiens(9606)Process
GO:0006357involved_in regulation of transcription by RNA polymerase II1IBAHomo_sapiens(9606)Process
GO:0006366involved_in transcription by RNA polymerase II1IEAHomo_sapiens(9606)Process
GO:0006468involved_in protein phosphorylation1IEAHomo_sapiens(9606)Process
GO:0007224involved_in smoothened signaling pathway1IEAHomo_sapiens(9606)Process
GO:0007405involved_in neuroblast proliferation1IEAHomo_sapiens(9606)Process
GO:0007406involved_in negative regulation of neuroblast proliferation1IEAHomo_sapiens(9606)Process
GO:0007411involved_in axon guidance1IEAHomo_sapiens(9606)Process
GO:0007417involved_in central nervous system development1TASHomo_sapiens(9606)Process
GO:0007435involved_in salivary gland morphogenesis1IEAHomo_sapiens(9606)Process
GO:0007601involved_in visual perception1TASHomo_sapiens(9606)Process
GO:0009611involved_in response to wounding1IEPHomo_sapiens(9606)Process
GO:0009786involved_in regulation of asymmetric cell division1IEAHomo_sapiens(9606)Process
GO:0009887involved_in animal organ morphogenesis1TASHomo_sapiens(9606)Process
GO:0009950involved_in dorsal/ventral axis specification1IEAHomo_sapiens(9606)Process
GO:0010467involved_in gene expression1IEAHomo_sapiens(9606)Process
GO:0010628involved_in positive regulation of gene expression1IMPHomo_sapiens(9606)Process
GO:0010975involved_in regulation of neuron projection development1IEAHomo_sapiens(9606)Process
GO:0019901enables protein kinase binding1ISSHomo_sapiens(9606)Function
GO:0021517involved_in ventral spinal cord development1ISSHomo_sapiens(9606)Process
GO:0021549involved_in cerebellum development1IEAHomo_sapiens(9606)Process
GO:0021593involved_in rhombomere morphogenesis1IEAHomo_sapiens(9606)Process
GO:0021778involved_in oligodendrocyte cell fate specification1IEAHomo_sapiens(9606)Process
GO:0021796involved_in cerebral cortex regionalization1IEAHomo_sapiens(9606)Process
GO:0021798involved_in forebrain dorsal/ventral pattern formation1IEAHomo_sapiens(9606)Process
GO:0021902involved_in commitment of neuronal cell to specific neuron type in forebrain1IEAHomo_sapiens(9606)Process
GO:0021905involved_in forebrain-midbrain boundary formation1IEAHomo_sapiens(9606)Process
GO:0021983involved_in pituitary gland development1IEAHomo_sapiens(9606)Process
GO:0021986involved_in habenula development1IEAHomo_sapiens(9606)Process
GO:0022027involved_in interkinetic nuclear migration1IEAHomo_sapiens(9606)Process
GO:0023019involved_in signal transduction involved in regulation of gene expression1IEAHomo_sapiens(9606)Process
GO:0030216involved_in keratinocyte differentiation1IEAHomo_sapiens(9606)Process
GO:0030858involved_in positive regulation of epithelial cell differentiation1IEAHomo_sapiens(9606)Process
GO:0031490enables chromatin DNA binding1IEAHomo_sapiens(9606)Function
GO:0031625enables ubiquitin protein ligase binding1IEAHomo_sapiens(9606)Function
GO:0032808involved_in lacrimal gland development1IEAHomo_sapiens(9606)Process
GO:0032869involved_in cellular response to insulin stimulus1IEAHomo_sapiens(9606)Process
GO:0033365involved_in protein localization to organelle1IEAHomo_sapiens(9606)Process
GO:0035035enables histone acetyltransferase binding1ISSHomo_sapiens(9606)Function
GO:0042462involved_in eye photoreceptor cell development1IEAHomo_sapiens(9606)Process
GO:0042593involved_in glucose homeostasis1IMPHomo_sapiens(9606)Process
GO:0042660involved_in positive regulation of cell fate specification1IEAHomo_sapiens(9606)Process
GO:0044344involved_in cellular response to fibroblast growth factor stimulus1IEAHomo_sapiens(9606)Process
GO:0045471involved_in response to ethanol1IEAHomo_sapiens(9606)Process
GO:0045665involved_in negative regulation of neuron differentiation1IEAHomo_sapiens(9606)Process
GO:0045893involved_in positive regulation of DNA-templated transcription2IDA,IMPHomo_sapiens(9606)Process
GO:0045944involved_in positive regulation of transcription by RNA polymerase II2IMP,ISSHomo_sapiens(9606)Process
GO:0048505involved_in regulation of timing of cell differentiation1IEAHomo_sapiens(9606)Process
GO:0048596involved_in embryonic camera-type eye morphogenesis1IEAHomo_sapiens(9606)Process
GO:0048663involved_in neuron fate commitment1NASHomo_sapiens(9606)Process
GO:0048708involved_in astrocyte differentiation1IEAHomo_sapiens(9606)Process
GO:0048856involved_in anatomical structure development1IBAHomo_sapiens(9606)Process
GO:0050680involved_in negative regulation of epithelial cell proliferation1IEAHomo_sapiens(9606)Process
GO:0050768involved_in negative regulation of neurogenesis1ISSHomo_sapiens(9606)Process
GO:0060041involved_in retina development in camera-type eye1IEAHomo_sapiens(9606)Process
GO:0061034involved_in olfactory bulb mitral cell layer development1IEAHomo_sapiens(9606)Process
GO:0061072involved_in iris morphogenesis1IMPHomo_sapiens(9606)Process
GO:0061303involved_in cornea development in camera-type eye1IMPHomo_sapiens(9606)Process
GO:0070410enables co-SMAD binding1IEAHomo_sapiens(9606)Function
GO:0070412enables R-SMAD binding1IPIHomo_sapiens(9606)Function
GO:0071333involved_in cellular response to glucose stimulus1IEAHomo_sapiens(9606)Process
GO:0071380involved_in cellular response to prostaglandin E stimulus1IEAHomo_sapiens(9606)Process
GO:0071466involved_in cellular response to xenobiotic stimulus1IEAHomo_sapiens(9606)Process
GO:0071837enables HMG box domain binding1IEAHomo_sapiens(9606)Function
GO:0080111involved_in DNA demethylation1IEAHomo_sapiens(9606)Process
GO:0098598involved_in learned vocalization behavior or vocal learning1IEAHomo_sapiens(9606)Process
GO:0120008involved_in positive regulation of glutamatergic neuron differentiation1IEAHomo_sapiens(9606)Process
GO:1901142involved_in insulin metabolic process1IEAHomo_sapiens(9606)Process
GO:1904798involved_in positive regulation of core promoter binding1IDAHomo_sapiens(9606)Process
GO:1904937involved_in sensory neuron migration1IEAHomo_sapiens(9606)Process
GO:1990830involved_in cellular response to leukemia inhibitory factor1IEAHomo_sapiens(9606)Process
GO:1990837enables sequence-specific double-stranded DNA binding1IDAHomo_sapiens(9606)Function
GO:2001224involved_in positive regulation of neuron migration1IEAHomo_sapiens(9606)Process

Expression