KEGG   Homo sapiens (human): 5080Help
Entry
5080              CDS       T01001                                 

Gene name
PAX6, AN, AN2, D11S812E, FVH1, MGDA, WAGR
Definition
paired box 6
Orthology
K08031  
paired box protein 6
Organism
hsa  Homo sapiens (human)
Pathway
Signaling pathways regulating pluripotency of stem cells
Maturity onset diabetes of the young
Disease
H00271  
Polymicrogyria
H00635  
Aniridia
H01075  
Peters anomaly
H01114  
Ocular coloboma
H01159  
Anterior segment dysgenesis (ASD)
H01202  
Cataract
H01256  
Foveal hypoplasia
H01273  
Autosomal dominant keratitis (ADK)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Cellular Processes
  Cellular commiunity
   04550 Signaling pathways regulating pluripotency of stem cells
    5080 (PAX6)
 Human Diseases
  Endocrine and metabolic diseases
   04950 Maturity onset diabetes of the young
    5080 (PAX6)
Transcription factors [BR:hsa03000]
 Eukaryotic Type
  Helix-turn-helix
   Paired box plus homeo domain
    5080 (PAX6)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
LinkDB All DBs
Structure
PDB: 

Jmol
Position
11p13
AA seq 422 aa AA seqDB search
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRY
YETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSV
SSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQ
EGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR
ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIP
QPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPT
SPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPR
LQ
NT seq 1269 nt NT seq  +upstreamnt  +downstreamnt
atgcagaacagtcacagcggagtgaatcagctcggtggtgtctttgtcaacgggcggcca
ctgccggactccacccggcagaagattgtagagctagctcacagcggggcccggccgtgc
gacatttcccgaattctgcaggtgtccaacggatgtgtgagtaaaattctgggcaggtat
tacgagactggctccatcagacccagggcaatcggtggtagtaaaccgagagtagcgact
ccagaagttgtaagcaaaatagcccagtataagcgggagtgcccgtccatctttgcttgg
gaaatccgagacagattactgtccgagggggtctgtaccaacgataacataccaagcgtg
tcatcaataaacagagttcttcgcaacctggctagcgaaaagcaacagatgggcgcagac
ggcatgtatgataaactaaggatgttgaacgggcagaccggaagctggggcacccgccct
ggttggtatccggggacttcggtgccagggcaacctacgcaagatggctgccagcaacag
gaaggagggggagagaataccaactccatcagttccaacggagaagattcagatgaggct
caaatgcgacttcagctgaagcggaagctgcaaagaaatagaacatcctttacccaagag
caaattgaggccctggagaaagagtttgagagaacccattatccagatgtgtttgcccga
gaaagactagcagccaaaatagatctacctgaagcaagaatacaggtatggttttctaat
cgaagggccaaatggagaagagaagaaaaactgaggaatcagagaagacaggccagcaac
acacctagtcatattcctatcagcagtagtttcagcaccagtgtctaccaaccaattcca
caacccaccacaccggtttcctccttcacatctggctccatgttgggccgaacagacaca
gccctcacaaacacctacagcgctctgccgcctatgcccagcttcaccatggcaaataac
ctgcctatgcaacccccagtccccagccagacctcctcatactcctgcatgctgcccacc
agcccttcggtgaatgggcggagttatgatacctacacccccccacatatgcagacacac
atgaacagtcagccaatgggcacctcgggcaccacttcaacaggactcatttcccctggt
gtgtcagttccagttcaagttcccggaagtgaacctgatatgtctcaatactggccaaga
ttacagtaa

DBGET integrated database retrieval system