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MGP002204

Record overview

MGPD IDMGP002204
Gene ID5080
SpeciesHomo sapiens (Human)
Gene Namepaired box 6
Gene Symbol PAX6
SynonymsAN; AN2; FVH1; MGDA; WAGR; D11S812E;
Alternate namespaired box protein Pax-6; aniridia type II protein; oculorhombin; paired box homeotic gene-6;
Chromosome11
Map Location11p13
SummaryThis gene encodes paired box gene 6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to the hallmark feature of this gene family, a conserved paired box domain, the encoded protein also contains a homeo box domain. Both domains are known to bind DNA and function as regulators of gene transcription. This gene is expressed in the developing nervous system, and in developing eyes. Mutations in this gene are known to cause ocular disorders such as aniridia and Peter's anomaly. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
OrthologsView orthologs and multiple alignments for PAX6

Proteins

paired box protein Pax-6 isoform a
Refseq ID:NP_001121084
Protein GI:189083681
UniProt ID:P26367
mRNA ID:NM_001127612
Length:422
RefSeq Status:
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAW
EIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEA
QMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIP
QPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPG
VSVPVQVPGSEPDMSQYWPRLQ
 
paired box protein Pax-6 isoform a
Refseq ID:NP_001245394
Protein GI:386642917
UniProt ID:P26367
mRNA ID:NM_001258465
Length:422
RefSeq Status:
Protein sequence is identical to GI:189083681 (mRNA isoform)
 
paired box protein Pax-6 isoform a
Refseq ID:NP_001245393
Protein GI:386642915
UniProt ID:P26367
mRNA ID:NM_001258464
Length:422
RefSeq Status:
Protein sequence is identical to GI:189083681 (mRNA isoform)
 
paired box protein Pax-6 isoform a
Refseq ID:NP_000271
Protein GI:4505615
UniProt ID:P26367
mRNA ID:NM_000280
Length:422
RefSeq Status:
Protein sequence is identical to GI:189083681 (mRNA isoform)
 
paired box protein Pax-6 isoform b
Refseq ID:NP_001245391
Protein GI:386642911
UniProt ID:F1T0F8
mRNA ID:NM_001258462
Length:436
RefSeq Status:
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKVQVLDNQNVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSK
IAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGEN
TNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIP
ISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPM
GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ
 
paired box protein Pax-6 isoform b
Refseq ID:NP_001595
Protein GI:4580424
UniProt ID:P26367
mRNA ID:NM_001604
Length:436
RefSeq Status:
Protein sequence is identical to GI:386642911 (mRNA isoform)
 
paired box protein Pax-6 isoform b
Refseq ID:NP_001245392
Protein GI:386642913
UniProt ID:F1T0F8
mRNA ID:NM_001258463
Length:436
RefSeq Status:
Protein sequence is identical to GI:386642911 (mRNA isoform)
 
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