PAX6 (paired box 6)

Identity

Other names	AN
	AN2
	D11S812E
	MGC17209
	MGDA
	WAGR
HGNC	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
HGNC	PAX6   8620
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   chr11:31762916-31789455 -  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	AK314470 [ ENTREZ ]
RefSeq	NM_000280 [ SRS ]    NM_000280 [ ENTREZ ]
RefSeq	NM_001127612 [ SRS ]    NM_001127612 [ ENTREZ ]
RefSeq	NM_001604 [ SRS ]    NM_001604 [ ENTREZ ]
RefSeq	AC_000054 [ SRS ]    AC_000054 [ ENTREZ ]
RefSeq	AC_000143 [ SRS ]    AC_000143 [ ENTREZ ]
RefSeq	NC_000011 [ SRS ]    NC_000011 [ ENTREZ ]
RefSeq	NT_009237 [ SRS ]    NT_009237 [ ENTREZ ]
RefSeq	NW_001838022 [ SRS ]    NW_001838022 [ ENTREZ ]
RefSeq	NW_925006 [ SRS ]    NW_925006 [ ENTREZ ]
AceView	PAX6 AceView - NCBI
Unigene	Hs.714304 [ SRS ]    Hs.714304 [ NCBI ]     HS714304 [ spliceNest ]
Fast-db	4508 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	P26367 [ SRS]    P26367 [ EXPASY ]     P26367 [ INTERPRO ]     P26367 [ UNIPROT ]
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_001127612 [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_001127612
SOURCE	NM_001604
SMD	Hs.714304
SAGE	Hs.714304
GO	cell fate determination [Amigo]  cell fate determination
GO	neuron migration [Amigo]  neuron migration
GO	transcription factor activity [Amigo]  transcription factor activity
GO	protein binding [Amigo]  protein binding
GO	nucleus [Amigo]  nucleus
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 ToxicoGenomics Database]
	Other databases
	Probes
Probe	PAX6 Related clones (RZPD - Berlin)
	PubMed
PubMed	107 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

Search in all EBI   NCBI

Contributor(s)

Written	09-2002	Dessen P, Le Minor S
Updated	03-2008	Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Aug 11 20:23:46 2008