QuickView for PAX6 (gene)

Gene Symbol:

PAX6 Homo sapiens

Full name:

paired box 6

Synonyms:

AN, AN2, ASGD5, D11S812E, FVH1, MGDA, WAGR, paired box protein Pax-6, aniridia type II protein, oculorhombin, paired box homeotic gene-6

Genomic Location:

Chr 11: 31767034-31789455

Description:

This gene encodes a homeobox and paired domain-containing protein that binds DNA and functions as a regulator of transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene o...

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This gene encodes a homeobox and paired domain-containing protein that binds DNA and functions as a regulator of transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. Use of alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Bos taurus ,  Danio rerio ,  Gallus gallus ,  Canis lupus familiaris ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

NKX25_01 ,  TGGAAA_NFAT_Q4_01 ,  GATTGGY_NFY_Q6_01 ,  HNF4ALPHA_Q6 ,  GTATTAT_MIR3693P ,  OCT1_05 ,  TFIIA_Q6 ,  MAZR_01 ,  OCT1_B ,  DR3_Q4 ,  STAT1_02 ,  ETS_Q4 ,  TTANTCA_UNKNOWN ,  FOXJ2_02 ,  ARNT_01 ,  OCT1_04 ,  MAZ_Q6 ,  EFC_Q6 ,  OCT1_01 ,  MYC_Q2 ,  YATGNWAAT_OCT_C ,  OCT_Q6 ,  MYCMAX_03 ,  CACGTG_MYC_Q2 ,  E2F4DP1_01 ,  NKX3A_01 ,  NFY_C ,  AAANWWTGC_UNKNOWN ,  CTTTGCA_MIR527 ,  PEA3_Q6 ,  VDR_Q6 ,  ATCMNTCCGY_UNKNOWN ,  WGTTNNNNNAAA_UNKNOWN ,  SRY_01 ,  ZIC3_01 ,  CTTTGA_LEF1_Q2 ,  IRF1_Q6 ,  STAT1_03 ,  GTGCAAA_MIR507 ,  COUP_01 ,  GGGCATT_MIR365 ,  MAF_Q6 ,  RFX1_01 ,  OCT1_Q5_01 ,  OCT_C ,  TGACCTY_ERR1_Q2 ,  MYAATNNNNNNNGGC_UNKNOWN ,  AML1_01 ,  CTTTGTA_MIR524 ,  WTGAAAT_UNKNOWN ,  GGGAGGRR_MAZ_Q6 ,  CEBP_Q2 ,  OCT1_Q6 ,  LEF1_Q2 ,  PAX4_02 ,  E2F_Q6 ,  TITF1_Q3 ,  FOXO3_01 ,  E2F1_Q6_01 ,  CDX2_Q5 ,  CAGGTG_E12_Q6 ,  ETS2_B ,  TST1_01 ,  ZID_01 ,  E2F_Q4 ,  GTCTTCC_MIR7 ,  RRAGTTGT_UNKNOWN ,  GTAAGAT_MIR200A ,  GCAAAAA_MIR129 ,  AACYNNNNTTCCS_UNKNOWN ,  CATRRAGC_UNKNOWN ,  E2F1DP2_01 ,  USF_C ,  AAGWWRNYGGC_UNKNOWN ,  NERF_Q2 ,  GAANYNYGACNY_UNKNOWN ,  MGGAAGTG_GABP_B ,  NFY_Q6 ,  AHRARNT_01 ,  E2F1DP1_01 ,  AML1_Q6 ,  EN1_01 ,  OCT1_02 ,  CHX10_01 ,  ELK1_01 ,  TAATTA_CHX10_01 ,  TTGTTT_FOXO4_01 ,  E2F1DP1RB_01 ,  PIT1_Q6 ,  E2F_02 ,  TEF_Q6 ,  RGAGGAARY_PU1_Q6 ,  COUP_DR1_Q6 ,  CTGCAGY_UNKNOWN ,  T3R_Q6 ,  KMCATNNWGGA_UNKNOWN ,  E2F1_Q3 ,  TGACAGNY_MEIS1_01 ,  E2F4DP2_01 ,  CTTTGT_LEF1_Q2 ,  ER_Q6_02 ,  FOXM1_01 ,  USF2_Q6 ,  CCAATNNSNNNGCG_UNKNOWN ,  AACTTT_UNKNOWN ,  PPAR_DR1_Q2 ,  CRX_Q4 ,  TCF1P_Q6 ,  ETS1_B ,  COREBINDINGFACTOR_Q6 ,  ELF1_Q6 ,  ACATATC_MIR190 ,  RACTNNRTTTNC_UNKNOWN ,  CP2_01 ,  GGGTGGRR_PAX4_03 ,  E2F1_Q6

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Cytogenetic Map:

11p13

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