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Gene Model: Pax6

NomenclatureGenomic Location
SymbolPax6Chromosome2
NamePaired box protein Pax-6Linkage mapunknown
SpeciesDracomimus familiarisGenome CoordinatesChr2: 18 Mbp

Molecular 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. 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. Isoform 5a appears to function as a molecular switch that specifies target genes.

Molecular Function Terms:

binding
   nucleic acid binding
      DNA binding
         sequence-specific DNA binding
   protein binding
      enzyme binding
         ubiquitin protein ligase binding
      SMAD binding

nucleic acid binding transcription factor activity
   sequence-specific DNA binding transcription factor activity

Human Disease Association

Defects in PAX6 are the cause of aniridia (AN) [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.

Defects in PAX6 are a cause of Peters anomaly (PAN) [MIM:604229]. Peters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea.

Defects in PAX6 are a cause of foveal hypoplasia (FOVHYP) [MIM:136520]. Foveal hypoplasia can be isolated or associated with presenile cataract. Inheritance is autosomal dominant.

Defects in PAX6 are a cause of keratitis hereditary (KERH) [MIM:148190]. An ocular disorder characterized by corneal opacification, recurrent stromal keratitis and vascularization.

Defects in PAX6 are a cause of coloboma ocular (COLO) [MIM:120200]; also known as uveoretinal coloboma or coloboma of iris, choroid and retina. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Severe colobomatous malformations may cause as much as 10% of the childhood blindness. The clinical presentation of ocular coloboma 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.

Defects in PAX6 are a cause of coloboma of optic nerve (COLON) [MIM:120430].

Defects in PAX6 are a cause of bilateral optic nerve hypoplasia (BONH) [MIM:165550]; also known as bilateral optic nerve aplasia. A congenital anomaly in which the optic disc 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.

Defects in PAX6 are a cause of aniridia cerebellar ataxia and mental deficiency (ACAMD) [MIM:206700]; also known as Gillespie syndrome. A rare condition consisting of partial rudimentary iris, cerebellar impairment of the ability to perform coordinated voluntary movements, and mental retardation.

Predicted Transcript
     1 CGCCCCGCAGGTCACAGCGGCGTCAACCAGCTCGGCGGCGTGTTCGTGAACGGCCGGCCG
    61 CTGCCCGATTCCACCCGGCAGAAAATCGTGGAACTGGCCCACAGCGGGGCCCGGCCCTGC
   121 GACATCTCCCGAATCCTGCAGACCCATGCAGATGCAAAAGTCCAAGTGCTGGACAATCAA
   181 AACGTATCGAATGGCTGTGTGAGTAAAATTCTGGGCAGGTATTACGAAACTGGCTCCATC
   241 CGACCGCGGGCAATCGGAGGTAGTAAGCCGAGAGTAGCGACTCCAGAAGTTGTAAGCAAA
   301 ATAGCACAGTATAAACGGGAGTGCCCCTCCATCTTTGCTTGGGAGATCCGAGACAGATTA
   361 CTATCGGAGGGGGTCTGTACCAACGATAATATACCCAGCGTCTCGTCGATCAACAGAGTC
   421 CTCCGCAACCTGGCTAGCGAAAAGCAACAGATGGGTGCCGATGGAATGTATGACAAGCTG
   481 AGGATGCTGAACGGGCAAAGCGGGACGTGGGGCACGAGGCCGGGCTGGTACCCGGGCACC
   541 TCTGTCCCAGGGCAGCCGGCGCCAGATGGCTGCCCACAACAGGAAGGAGGGGCTGAAAAT
   601 ACTAACTCCATCAGTTCCAACGGTGAAGATTCAGACGAAGCTCAAATGAGACTCCAGCTG
   661 AAAAGGAAGTTACAGAGAAATCGGACTTCCTTTACCCAAGAACAAATTGAAGCGCTCGAG
   721 AAAGAATTTGAGAGAACTCATTATCCTGATGTTTTTGCCAGAGAGAGACTAGCTGCCAAA
   781 ATAGACTTGCCTGAAGCAAGAATACAGGTGTGGTTTTCCAATCGGAGGGCCAAGTGGAGA
   841 CGAGAAGAGAAGCTAAGGAACCAGAGAAGACAAGCCAGCAACACCCCCAGTCATATTCCC
   901 ATCAGCAGTAGTTTCAGCACAAGTGTCTACCAACCAATCCCACAGCCCACAACACCTGTT
   961 TCCTCTTTCACATCAGGTTCAATGCTGGGCAGAACAGACACCGCGCTAACAAACACATAC
  1021 AGTGCTTTGCCACCCATGCCTAGCTTCACAATGGCTAACAACCTGCCTATGCAACCCCCA
  1081 GTACCCAGCCAGACTTCTTCCTACTCTTGCATGCTGCCCACAAGTCCGTCAGTAAATGGG
  1141 AGGAGCTATGATACATACACCCCTCCCCACATGCAGACACATATGAACAGCCAGCCAATG
  1201 GGCACTTCTGGCACCACTTCAACAGGTCTTATTTCTCCGGGAGTGTCCGTTCCTGTTCAA
  1261 GTTCCCGGCAGTGAACCGGATATGTCTCAGTATTGGCCAAGATTACAGTAA

Predicted Protein Product
RPAGHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQ
NVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRL
LSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQSGTWGTRPGWYPGT
SVPGQPAPDGCPQQEGGAENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE
KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIP
ISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPP
VPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQ
VPGSEPDMSQYWPRLQ
Protein Alignment to Mouse
sp|P63015|PAX6_MOUSE Paired box protein Pax-6 OS=Mus musculus GN=Pax6 PE=1
            SV=1
      MGI:97490 Pax6 paired box gene 6 (Chr 2)
        Length = 422

 Score = 1862 (660.5 bits), Expect = 7.1e-193, P = 7.1e-193
 Identities = 364/432 (84%), Positives = 366/432 (84%)

Query:     5 HSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSN 64
             HSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQ              VSN
Sbjct:     5 HSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQ--------------VSN 50

Query:    65 GCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEG 124
             GCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEG
Sbjct:    51 GCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEG 110

Query:   125 VCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQSGTWGTRPGWYPGTSVPG 184
             VCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQ+G+WGTRPGWYPGTSVPG
Sbjct:   111 VCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPG 170

Query:   185 QPAPDGCPQQEGGAENTNSISSNGEDSDEAQMXXXXXXXXXXNRTSFTQEQIEALEKEFE 244
             QP  DGC QQEGG ENTNSISSNGEDSDEAQM          NRTSFTQEQIEALEKEFE
Sbjct:   171 QPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFE 230

Query:   245 RTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNXXXXXXXXXX 304
             RTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASN          
Sbjct:   231 RTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSS 290

Query:   305 XXXXVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQ 364
                 VYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQ
Sbjct:   291 FSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQ 350

Query:   365 TSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMXXXXXXXXXLIXXXXXXXXXXXXX 424
             TSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPM         LI             
Sbjct:   351 TSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGS 410

Query:   425 XXDMSQYWPRLQ 436
               DMSQYWPRLQ
Sbjct:   411 EPDMSQYWPRLQ 422