PAX6 (paired box 6)

Identity

Other names	AN
	AN2
	D11S812E
	MGC17209
	MGDA
	WAGR
Hugo	PAX6
Location	11p13
Note	Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

External links

	Nomenclature
Hugo	PAX6
GDB	PAX6
Entrez_Gene	PAX6  5080  paired box 6
	Cards
GeneCards	PAX6
Ensembl	PAX6 [Search_View]   ENSG00000007372 [Gene_View]
Genatlas	PAX6
GeneLynx	PAX6
eGenome	PAX6
euGene	5080
	Genomic and cartography
GoldenPath	PAX6  -  11p13   chr11:31767035-31789455 -  11p13   [Description]    (hg18-March_2006)
Ensembl	PAX6 - 11p13 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	PAX6
	Gene and transcription
Genbank	AB209177 [ ENTREZ ]
Genbank	AK074881 [ ENTREZ ]
Genbank	AK094172 [ ENTREZ ]
Genbank	AK094249 [ ENTREZ ]
Genbank	AY047583 [ ENTREZ ]
RefSeq	NM_000280 [ SRS ]    NM_000280 [ ENTREZ ]
RefSeq	NM_001604 [ SRS ]    NM_001604 [ ENTREZ ]
RefSeq	AC_000054 [ SRS ]    AC_000054 [ ENTREZ ]
RefSeq	NC_000011 [ SRS ]    NC_000011 [ ENTREZ ]
RefSeq	NT_009237 [ SRS ]    NT_009237 [ ENTREZ ]
RefSeq	NW_925006 [ SRS ]    NW_925006 [ ENTREZ ]
AceView	PAX6 AceView - NCBI
Unigene	Hs.591993 [ SRS ]    Hs.591993 [ NCBI ]     HS591993 [ spliceNest ]
Fast-db	4508 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	P26367 [ SRS]    P26367 [ EXPASY ]     P26367 [ INTERPRO ]
Prosite	PS00027 HOMEOBOX_1 [ SRS ]    PS00027 HOMEOBOX_1 [ Expasy ]
Prosite	PS50071 HOMEOBOX_2 [ SRS ]    PS50071 HOMEOBOX_2 [ Expasy ]
Prosite	PS00034 PAIRED_1 [ SRS ]    PS00034 PAIRED_1 [ Expasy ]
Prosite	PS51057 PAIRED_2 [ SRS ]    PS51057 PAIRED_2 [ Expasy ]
Interpro	IPR001356 Homeobox [ SRS ]    IPR001356 Homeobox [ EBI ]
Interpro	IPR012287 Homeodomain-rel [ SRS ]    IPR012287 Homeodomain-rel [ EBI ]
Interpro	IPR001523 Paired_box_N [ SRS ]    IPR001523 Paired_box_N [ EBI ]
Interpro	IPR011991 Wing_hlx_DNA_bd [ SRS ]    IPR011991 Wing_hlx_DNA_bd [ EBI ]
CluSTr	P26367
Pfam	PF00046 Homeobox [ SRS ]    PF00046 Homeobox [ Sanger ]    pfam00046 [ NCBI-CDD ]
Pfam	PF00292 PAX [ SRS ]    PF00292 PAX [ Sanger ]    pfam00292 [ NCBI-CDD ]
Smart	SM00389 HOX [EMBL]
Smart	SM00351 PAX [EMBL]
Prodom	PD000010 Homeobox[INRA-Toulouse]
Prodom	P26367 PAX6_HUMAN [ Domain structure ]   P26367 PAX6_HUMAN  [ sequences sharing at least 1 domain ]
Blocks	P26367
PDB	2CUE [ SRS ]    2CUE [ PdbSum ],   2CUE [ IMB ]   2CUE [ RSDB ]
PDB	6PAX [ SRS ]    6PAX [ PdbSum ],   6PAX [ IMB ]   6PAX [ RSDB ]
HPRD	06167
	Protein Interaction databases
DIP	P26367
IntAct	P26367
	Polymorphism : SNP, mutations, diseases
OMIM	106210;120200;120430;129750;136520;148190;165550;603807;607108    [ map ]
GENECLINICS	106210;120200;120430;129750;136520;148190;165550;603807;607108
SNP	PAX6 [dbSNP-NCBI]
SNP	NM_000280 [SNP-NCI]
SNP	NM_001604 [SNP-NCI]
SNP	PAX6 [GeneSNPs - Utah]  PAX6] [HGBASE - SRS]
HAPMAP	PAX6 [HAPMAP]
COSMIC	PAX6 [Somatic mutation (COSMIC-CGP-Sanger)]
HGMD	PAX6
	General knowledge
Family Browser	PAX6 [UCSC Family Browser]
SOURCE	NM_000280
SOURCE	NM_001604
SMD	Hs.591993
SAGE	Hs.591993
GO	cell fate determination [Amigo]  cell fate determination
GO	neuron migration [Amigo]  neuron migration
GO	DNA binding [Amigo]  DNA binding
GO	transcription factor activity [Amigo]  transcription factor activity
GO	protein binding [Amigo]  protein binding
GO	nucleus [Amigo]  nucleus
GO	transcription [Amigo]  transcription
GO	regulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GO	multicellular organismal development [Amigo]  multicellular organismal development
GO	axon guidance [Amigo]  axon guidance
GO	central nervous system development [Amigo]  central nervous system development
GO	salivary gland morphogenesis [Amigo]  salivary gland morphogenesis
GO	visual perception [Amigo]  visual perception
GO	negative regulation of cell proliferation [Amigo]  negative regulation of cell proliferation
GO	organ morphogenesis [Amigo]  organ morphogenesis
GO	dorsal/ventral axis specification [Amigo]  dorsal/ventral axis specification
GO	anterior/posterior pattern formation [Amigo]  anterior/posterior pattern formation
GO	pallium development [Amigo]  pallium development
GO	forebrain dorsal/ventral pattern formation [Amigo]  forebrain dorsal/ventral pattern formation
GO	commitment of a neuronal cell to a specific type of neuron in the forebrain [Amigo]  commitment of a neuronal cell to a specific type of neuron in the forebrain
GO	pituitary gland development [Amigo]  pituitary gland development
GO	cell differentiation [Amigo]  cell differentiation
GO	regulation of cell migration [Amigo]  regulation of cell migration
GO	forebrain development [Amigo]  forebrain development
GO	eye photoreceptor cell development [Amigo]  eye photoreceptor cell development
GO	camera-type eye development [Amigo]  camera-type eye development
GO	sequence-specific DNA binding [Amigo]  sequence-specific DNA binding
GO	negative regulation of neuron differentiation [Amigo]  negative regulation of neuron differentiation
GO	positive regulation of transcription from RNA polymerase II promoter [Amigo]  positive regulation of transcription from RNA polymerase II promoter
GO	regulation of neurogenesis [Amigo]  regulation of neurogenesis
KEGG	Maturity onset diabetes of the young
PubGene	PAX6
TreeFam	PAX6
CTD	5080 [Comparative Genomics Database]
	Other databases
	Probes
Probe	PAX6 Related clones (RZPD - Berlin)
	PubMed
PubMed	91 Pubmed reference(s) in LocusLink

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

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Contributor(s)

Written	09-2002	Dessen P, Le Minor S

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Thu May 22 20:20:25 2008