Home
GeneCards Guide
Suite
- GeneALaCart
- GeneDecks
- GeneIP
- GeneNote
- GeneAnnot
- GeneLoc
- GeneTide
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

PAX6 Gene

protein-coding GIFtS: 68

GC11M031501

paired box 6
(Previous names: paired box gene 6 (aniridia, keratitis) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: AN2)

		Products

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases & Descriptions
paired box 6¹ ²		OTTHUMP00000038837²
AN2² ³ ⁵		OTTHUMP00000038834²
WAGR¹ ²		paired box protein Pax-6²
D11S812E¹ ²		oculorhombin²
AN¹ ²		MGC17209²
Aniridia type II protein² ³		OTTHUMP00000038840²
MGDA² ⁵		paired box homeotic gene-6²
paired box gene 6 (aniridia, keratitis)¹		OTTHUMP00000038836²
OTTHUMP00000038839²		Oculorhombin³
OTTHUMP00000038838²

External Ids:	HGNC: 8620¹	Entrez Gene: 5080²	Ensembl: ENSG00000007372⁷	UniProtKB: P26367³

Export aliases for PAX6 gene to outside databases

Previous GC identifers: GC11M033407 GC11M032586 GC11M031849 GC11M031775 GC11M031768

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PAX6:

This 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 either the same or different

isoform have been found for this gene. (provided by RefSeq)

UniProtKB/Swiss-Prot: PAX6_HUMAN, P26367

Function: Transcription factor with important functions in the development of the eye, nose, central nervous system and

pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity). Competes with PAX4 in

binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the

ventral neuron subtypes by establishing the correct progenitor domains (By similarity). Isoform 5a appears to function

as a molecular switch that specifies target genes

Gene Wiki entry for PAX6

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PAX6 gene promoter:
         Sox9   PPAR-gamma2   PPAR-gamma1   AREB6   Chx10   ATF   POU2F1   deltaCREB   CREB   Cdc5
         Other transcription factors

Search SABiosciences Chromatin IP Primers for PAX6

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for PAX6

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p13 Ensembl cytogenetic band: 11p13 HGNC cytogenetic band: 11p13

PAX6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PAX6 gene location

GeneLoc gene densities for chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M031501: view genomic region (about GC identifiers)

Start:	31,501,758 bp from pter
End:	31,535,259 bp from pter
Size:	33,502 bases
Orientation:	minus strand

1 alternative location:

Chr11- 31,806,340-31,839,509

RefSeq DNA sequence:

NC_000011.9 NT_009237.18

(According to ¹UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: PAX6_HUMAN, P26367 (See protein sequence)

Recommended Name: Paired box protein Pax-6

Size: 422 amino acids; 46683 Da

Subunit: Interacts with MAF and MAFB (By similarity). Interacts with TRIM11; this interaction leads to ubiquitination

and proteasomal degradation, as well as inhibition of transactivation, possibly in part by preventing PAX6 binding to

consensus DNA sequences (By similarity)

Subcellular location: Nucleus

Developmental stage: Expressed in the developing eye and brain

PDB structure from and Proteopedia :

2CUE (3D)

6PAX (3D)

Secondary accessions: Q6N006 Q99413

Alternative splicing: 3 isoforms: P26367-1 P26367-2 P26367-3

Explore the universe of human proteins at neXtProt for PAX6: NX_P26367

Post-translational modifications:

Ubiquitinated by TRIM11, leading to ubiquitination and proteasomal degradation (By similarity)¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (3 alternative transcripts):

NP_000271.1 NP_001121084.1 NP_001595.2

ENSEMBL proteins:

ENSP00000405776 ENSP00000368410 ENSP00000368418 ENSP00000368403 ENSP00000368406 ENSP00000368427

ENSP00000368424 ENSP00000368401 ENSP00000397384 ENSP00000388132 ENSP00000404356 ENSP00000404100

ENSP00000407893 ENSP00000319499 ENSP00000241001

Human Recombinant Proteins

	Millipore Purified and/or Recombinant PAX6 Protein
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate: PAX6
	GenScript Custom Purified and Recombinant Proteins Services for PAX6
	Novus Biologicals Proteins for PAX6
	Novus Biologicals Lysate for PAX6
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins

5 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	--	--
GO:0005634	nucleus	IDA	17291498
GO:0005730	NOT nucleolus	IDA	18029348
GO:0005737	cytoplasm	IDA	18029348
GO:0044424	intracellular part	--	--

About this table

PAX6 for ontologies About GeneDecksing

Antibodies for PAX6:

	Millipore Mono- and Polyclonal Antibodies for the study of PAX6
	Sigma-Aldrich Antibodies for PAX6
	R&D Systems Antibodies for PAX6
	OriGene Antibodies (see all 2): PAX6
	GenScript Custom Superior Antibodies Services for PAX6
	Novus Biologicals Antibodies for PAX6
	Epitomics antibodies for PAX6

Assays for PAX6:

	Browse Kits and Assays available from Millipore
	Browse ELISAs at Sigma-Aldrich
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for PAX6
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for PAX6

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PAX6 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR001523 Paired_box_N

IPR012287 Homeodomain-rel

IPR011991 WHTH_trsnscrt_rep_DNA-bd

IPR001356 Homeobox

IPR017970 Homeobox_CS

Graphical View of Domain Structure for InterPro Entry P26367

ProtoNet protein and cluster: P26367

1 Blocks protein family: IPB001523 Paired box protein

UniProtKB/Swiss-Prot: PAX6_HUMAN, P26367

Similarity: Belongs to the paired homeobox family

Similarity: Contains 1 homeobox DNA-binding domain

Similarity: Contains 1 paired domain

(According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

UniProtKB/Swiss-Prot: PAX6_HUMAN, P26367

Function: Transcription factor with important functions in the development of the eye, nose, central nervous system and

pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity). Competes with PAX4 in

binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the

ventral neuron subtypes by establishing the correct progenitor domains (By similarity). Isoform 5a appears to function

as a molecular switch that specifies target genes

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich esiRNA and siRNA for PAX6 Sigma-Aldrich shRNA for PAX6
		OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): PAX6 OriGene shRNA RFP (see all 3): PAX6 OriGene basic RS shRNA (see all 3): PAX6 OriGene siRNA (see all 3): PAX6
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PAX6

miRNA:		Sigma-Aldrich microRNA Mimics for PAX6 Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PAX6
		8/12 SABiosciences Assays for microRNAs that regulate PAX6 (see all 12):
		hsa-miR-365 hsa-miR-520d-5p hsa-miR-557 hsa-miR-578 hsa-miR-7 hsa-miR-190b hsa-miR-455-3p hsa-miR-369-3p

Gene
Editing:

Browse CompoZr Knockout ZFN at Sigma-Aldrich

Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
		Browse iPSC Reprogramming Factors at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): PAX6 OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): PAX6 OriGene untagged cDNA clones in CMV expression vector (see all 3): PAX6 OriGene 3'-UTR clone (see all 3): PAX6 Browse MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for PAX6
		Browse Sino Biological Human cDNA Clones

Cell
Lines:

GenScript Custom overexpressing Cell Line Services for PAX6

Genatlas biochemistry entry for PAX6:

paired box (DNA binding) containing protein 6,with homeo domain,expressed in the central nervous system and endocrine

pancreas,key regulator of eye development and regulator of glial precursors in the ventral neural tube

5/7 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 7):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	TAS	10441571
GO:0003700	sequence-specific DNA binding transcription factor activity	IEA	--
GO:0004842	ubiquitin-protein ligase activity	ISS	--
GO:0005515	protein binding	IPI	16098226
GO:0010843	promoter binding	--	--

About this table

PAX6 for ontologies About GeneDecksing

Animal Models: 15/25 MGI mutant phenotypes (inferred from 36 alleles) (MGI details for Pax6) (see all 25):

behavior/neurological	cardiovascular system	craniofacial	digestive/alimentary	embryogenesis
endocrine/exocrine gland	growth/size	hearing/vestibular/ear	homeostasis/metabolism	immune system
lethality-postnatal	lethality-prenatal/perinatal	life span-post-weaning/aging	muscle	nervous system

PAX6 for phenotypes About GeneDecksing

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section

PAX6 for pathways About GeneDecksing

2 Millipore Pathways for PAX6

	Selected targets of Oct-3/4
	Transcription factors in neurogenesis

2 Cell Signaling Technology (CST) Pathways for PAX6

	MAPK/Erk in Growth and Differentiation
	SAPK/JNK Signaling Cascades

1 Kegg Pathway (Kegg details for PAX6):

hsa04950 Maturity onset diabetes of the young

SABiosciences Pathway-Focused PCR Arrays including PAX6 (see all 3): PAHS-075A PAHS-081A

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for PAX6

5 Interacting proteins for PAX6 (P26367^{1, 2} ENSP00000368424³) via UniProtKB, MINT, and/or STRING

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
IPO13	O94829², ENSP00000361418³	MINT-67030 STRING: ENSP00000361418
HOMER3	Q9NSC5¹	EBI-747278,EBI-748420
TRIM11	Q96F44¹	EBI-747278,EBI-851809
--	P31016²	MINT-7974222

About this table

5/51 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 51):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001654	eye development	TAS	10747901
GO:0001709	cell fate determination	--	--
GO:0001764	neuron migration	--	--
GO:0002052	positive regulation of neuroblast proliferation	--	--
GO:0002088	lens development in camera-type eye	--	--

About this table

PAX6 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

PAX6 for compounds About GeneDecksing

Browse Small Molecules at Sigma-Aldrich

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PAX6
10/12 Novoseek chemical compound relationships for PAX6 gene (see all 12)

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
proglucagon	34.6	2	12697711 (1), 16407227 (1)
retinoic acid	34.5	6	10394471 (1), 17525239 (1), 14743441 (1), 9503603 (1) (see all 5)
serine	12.1	7	19917615 (2), 17893655 (1), 9516413 (1), 11553050 (1) (see all 6)
proline	4.32	6	19917615 (2), 10737978 (1), 9516413 (1), 10955655 (1) (see all 5)
oxygen	0.81	2	15193293 (1), 17318412 (1)
glucose	0	23	19034419 (6), 11756345 (5), 15842522 (2), 16079311 (1) (see all 5)
threonine	0	4	19917615 (2), 11309364 (1), 17374606 (1)
bromodeoxyuridine	0	6	17277739 (2), 17291498 (1), 19378256 (1)
alanine	0	1	10737978 (1)
arginine	0	5	10737978 (1), 10955655 (1), 19806579 (1), 10887930 (1) (see all 5)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich esiRNA and siRNA for PAX6 Sigma-Aldrich shRNA for PAX6
		OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): PAX6 OriGene shRNA RFP (see all 3): PAX6 OriGene basic RS shRNA (see all 3): PAX6 OriGene siRNA (see all 3): PAX6
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PAX6

miRNA:		Sigma-Aldrich microRNA Mimics for PAX6 Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PAX6
		8/12 SABiosciences Assays for microRNAs that regulate PAX6 (see all 12):
		hsa-miR-365 hsa-miR-520d-5p hsa-miR-557 hsa-miR-578 hsa-miR-7 hsa-miR-190b hsa-miR-455-3p hsa-miR-369-3p

Clones:		Sigma-Aldrich FLAG tag genes for PAX6
		OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): PAX6 OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): PAX6 OriGene untagged cDNA clones in CMV expression vector (see all 3): PAX6 OriGene 3'-UTR Clone (see all 3): PAX6 Browse OriGene MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for PAX6

Primers:		OriGene genome-wide validated SYBR primer pairs: PAX6 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for PAX6: PPH02598A

REFSEQ mRNAs for PAX6 gene (3 alternative transcripts):

NM_000280.3 NM_001127612.1 NM_001604.4

Additional cDNA sequence:

AK074881.1 AK094172.1 AK094249.1 AK314470.1 AY047583.1 AY707088.1 BC011953.1 BX640762.1

GQ141695.1 M77844.1 M93650.1

24/25 DOTS entries (see all 25):

DT.95169354 DT.100784691 DT.101977743 DT.91760372 DT.99988304 DT.99956569 DT.100784690 DT.100028797

DT.97836474 DT.100784689 DT.97817296 DT.120745287 DT.120745340 DT.97846449 DT.99979680 DT.100028794

DT.100028796 DT.75183575 DT.120745294 DT.120745338 DT.120745385 DT.87046009 DT.97800437 DT.97846450

24/145 AceView cDNA sequences (see all 145):

AW139291 CA389929 AK094172 C00607 CA866216 BQ776519 AW514890 BM696268

CD675778 BG655782 BQ129988 CA941186 BI962649 BM697312 BM673393 BU735325

BC011953 CK430834 AY047583 BF980838 CD673930 BM548821 BI962615 BM712394

highest scoring ESTs for PAX6:

M93650 BC011953 BI822554 BX640762 CA389929 CA391688 F07809 AA773605 AB209177 AI337595

Unigene Cluster for PAX6:

Paired box 6

Hs.270303 [show with all ESTs]

Unigene Representative Sequence: NM_000280

GeneLoc Exon Structure

5/21 Alternative Splicing Database (ASD) splice patterns (SP) for PAX6 (see all 21)

ExUns:	1	^	2	^	3a	·	3b	·	3c	^	4	^	5a	·	5b	·	5c	·	5d	^	6a	·	6b	^	7	^	8	^	9a	·	9b	^	10	^	11a	·	11b	^	12	^	13	^	14	^	15a	·	15b	·	15c	·	15d	·
SP1:													-		-						-		-		-						-		-		-		-		-				-
SP2:																					-		-		-						-		-		-		-		-				-
SP3:																															-		-		-		-		-				-
SP4:													-		-						-		-		-						-		-		-		-		-
SP5:																																							-

ExUns:	15e	^	16	^	17a	·	17b	·	17c	^	18	^	19	^	20	^	21a	·	21b	·	21c	^	22a	·	22b	^	23a	·	23b	^	24
SP1:			-		-						-
SP2:			-		-						-
SP3:			-		-						-
SP4:
SP5:			-		-						-

About this scheme

ECgene alternative splicing isoforms for PAX6
18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):

ENST00000416339 ENST00000379115 ENST00000379123 ENST00000379109 ENST00000379111

ENST00000379132 ENST00000379129 ENST00000379107 ENST00000464174 ENST00000474783

ENST00000470027 ENST00000494377 ENST00000471303 ENST00000455099 ENST00000481563

ENST00000423822 ENST00000438681 ENST00000419022(uc001mtg.3)

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

PAX6 expression in normal and diseased human tissues

¹ / ² / ³

7 probe-sets matching PAX6 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
40740_at²^{, 3}	U95-A	1	1.00	1.00	0.81	0.77	M93650	1.00	1.00	1.00	1
89571_i_at²	U95-D	1	0.80	1.00	0.84	1.21	--	--	--	--	--
89573_f_at²	U95-D	1	0.73	1.00	0.75	1.03	--	--	--	--	--
235795_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AW088232	0.60	1.00	0.82	1
205646_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000280	0.60	1.00	0.82	1
235795_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
205646_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

About this table

PAX6 for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
About these images

PAX6 gene electronic northern expression

About these images

CGAP SAGE TAG: AACAGTCAGC

SOURCE GeneReport for Unigene cluster: Hs.270303

Expression variation in blood from EXPOLDB for PAX6

UniProtKB/Swiss-Prot: PAX6_HUMAN, P26367

Tissue specificity: Fetal eye, brain, spinal cord and olfactory epithelium. Isoform 5a is less abundant than the PAX6

shorter form

Primers:		OriGene genome-wide validated SYBR primer pairs: PAX6 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for PAX6: PPH02598A

SABiosciences Expression via Pathway-Focused PCR Arrays including PAX6 (see all 3): PAHS-075A PAHS-081A

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for PAX6 gene from 5/10 species (see all 10)

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
cow (Bos taurus)	PAX6¹	--	paired box 6	97(n) 99.76(a)	286857 NM_001040645.1 NP_001035735.1
rat (Rattus norvegicus)	Pax6¹	--	paired box 6	93.68(n) 99.76(a)	25509 NM_013001.1 NP_037133.1
mouse (Mus musculus)	Pax6^{1 , 5}	2 (55.31 cM)⁵	paired box gene 6^{1, 5}	94.27(n)¹ 99.77(a)¹	18508¹ NM_013627.3¹ NP_038655.1¹ AF008211⁵ AF008212⁵ (see all 29)
chicken (Gallus gallus)	PAX6¹	--	paired box gene 6	87.54(n) 99.31(a)	395943 NM_205066.1 NP_990397.1
zebrafish (Danio rerio)	pax6b²	--	paired box gene 6b	79.96(n)	60639 AF061252.1

About this table Species with no ortholog for PAX6

ENSEMBL Gene Tree for PAX6 (if available)

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for PAX6 gene

PAX7² PAX3² PAX4²

PAX6 for paralogs About GeneDecksing

(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

SNP ID	Valid	Chr 11 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
rs1506^1,2	C,F,A,H,	31810298(-)	`ACAGCT/AGGGTG`	2	--	ut3¹		17		MN NA EA NS WA	1184
rs495902^1,2	C,F,	31838181(-)	`TGGGCC/TGGGAT`	1	--	int¹		1		MN	184
rs592859^1,2	C,A,H,	31819335(-)	`TTATCC/GTGGGG`	3	--	int¹		8		NA EA WA	220
rs608293^1,2	C,	31808280(-)	`ATGGTA/GAACAA`	2	--	ut3¹		12		MN NS EA NA WA	760
rs628224^1,2	C,F,A,	31819174(+)	`AGTTCG/ATTACT`	3	--	int¹		12		EA NS NA WA	2088
rs644242^1,2	C,F,O,A,	31812801(-)	`TGGGGG/TTCATA`	3	--	int¹		11		MN NA NS EA WA	994
rs662702^1,2	C,F,O,A,	31809070(+)	`CCCTTC/TTCTGA`	2	--	ut3¹		104		MN NS NA EA PA EU CA WA	6880
rs667773^1,2	C,F,	31815362(-)	`TCCCAC/TCTGAT`	3	--	int¹		6		MN EA EU NA	2757
rs694617^1,2	C,	31825518(-)	`CTGCTC/ATCTAA`	3	--	int¹ ese³		12		NS EA NA WA	588
rs1476422^1,2	C	31826643(-)	`GCGGAG/TCATCC`	3	--	int¹		0	--	--	--	--

About this table

HapMap Linkage Disequilibrium images for PAX6 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for PAX6: --

Search QIAGEN SeqTarget long-range PCR primers for resequencing for PAX6

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PAX6 for disorders About GeneDecksing

OMIM: 607108 disorders: 106210 604229 604219 148190 136520 120430 165550 120200 206700

UniProtKB/Swiss-Prot: PAX6_HUMAN, P26367

Defects in PAX6 are the cause of aniridia (AN) [MIM:106210]. A congenital, bilateral, panocular disorder

characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in

iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus.

Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem

causing additional visual loss over time

Defects in PAX6 are a cause of Peters anomaly [MIM:604229]. Peters anomaly consists of a central corneal

leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular

attachments to the central aspect of the posterior cornea

Defects in PAX6 are a cause of ectopia pupillae [MIM:129750]. It is a congenital eye malformation in which the

pupils are displaced from their normal central position

Defects in PAX6 are a cause of foveal hypoplasia [MIM:136520]. Foveal hypoplasia can be isolated or associated

with presenile cataract. Inheritance is autosomal dominant

Defects in PAX6 are a cause of autosomal dominant keratitis [MIM:148190]. It is an eye disorder characterized

by corneal opacification and vascularization, and by foveal hypoplasia

Defects in PAX6 are a cause of ocular coloboma [MIM:120200]; also known as uveoretinal coloboma or coloboma of

iris, choroid and retina. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the

optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Severe colobomatous malformations may cause

as much as 10% of the childhood blindness. The clinical presentation of ocular coloboma is variable. Some individuals

may present with minimal defects in the anterior iris leaf without other ocular defects. More complex malformations

create a combination of iris, uveoretinal and/or optic nerve defects without or with microphthalmia or even

anophthalmia

Defects in PAX6 are a cause of coloboma of optic nerve (COLON) [MIM:120430]

Defects in PAX6 are a cause of bilateral optic nerve hypoplasia (BONH) [MIM:165550]; also known as bilateral

optic nerve aplasia. A congenital anomaly in which the optic disc appears abnormally small. It may be an isolated

finding or part of a spectrum of anatomic and functional abnormalities that includes partial or complete agenesis of

the septum pellucidum, other midline brain defects, cerebral anomalies, pituitary dysfunction, and structural

abnormalities of the pituitary

Defects in PAX6 are a cause of aniridia cerebellar ataxia and mental deficiency (ACAMD) [MIM:206700]; also

known as Gillespie syndrome. A rare condition consisting of partial rudimentary iris, cerebellar impairment of the

ability to perform coordinated voluntary movements, and mental retardation

10/48 Novoseek disease relationships for PAX6 gene (see all 48)

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
aniridia	97.8	328	17893655 (7), 15740668 (6), 15842522 (6), 8364574 (5) (see all 99)
anomaly peters	91.3	28	8162071 (5), 20405024 (3), 11756345 (2), 10441571 (1) (see all 17)
wagr syndrome	91.2	11	7896291 (2), 8529675 (1), 15779010 (1), 7527372 (1) (see all 10)
eye abnormalities	79.5	16	9415682 (2), 7951315 (1), 8689689 (1), 10412187 (1) (see all 13)
microphthalmia	76.7	7	17406642 (2), 18385072 (1), 17277739 (1), 19004499 (1) (see all 6)
hypoplasia	72.6	20	10441571 (1), 12953159 (1), 15740668 (1), 16803629 (1) (see all 17)
coloboma	69.2	1	11826019 (1)
anophthalmia	67	2	7951315 (1), 18385377 (1)
wilms tumor	66.1	27	12386836 (2), 1334370 (2), 8717056 (1), 15779010 (1) (see all 17)
microcornea	65.5	1	19004499 (1)

About this table

GeneTests: PAX6

Aniridia

Locus Specific Mutation Databases (LSDB): PAX6
Human Gene Mutation Database (HGMD): PAX6
Genetic Association Database (GAD): PAX6
Human Genome Epidemiology (HuGE) Navigator: PAX6 (18 documents)

Export disorders and mutations for PAX6 gene to outside databases

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶UniProtKB/TrEMBL, and/or ⁷Novoseek)
About This Section

10/418 PubMed articles for PAX6 gene, integrated from 7 sources (see all 418):
(articles sorted by number of sources associating them with PAX6)

Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function. (PubMed id 11309364)^{1, 2, 7} Singh S.... Saunders G.F. (2001)
Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. (PubMed id 9931324)^{1, 2, 7} Hanson I.M.... van Heyningen V. (1999)
Missense mutations in the DNA-binding region and termination codon in PAX6. (PubMed id 12552561)^{1, 2, 7} Chao L.Y....Saunders G.F. (2003)
Missense mutations in the PAX6 gene in aniridia. (PubMed id 9856761)^{1, 2, 7} Azuma N.... Yamada M. (1998)
Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. (PubMed id 8162071)^{1, 2, 7} Hanson I.M.... van Heyningen V. (1994)
PAX6 mutations in aniridia. (PubMed id 8364574)^{1, 2, 7} Hanson I.M.... van Heyningen V. (1993)
Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. (PubMed id 12721955)^{1, 2, 7} Azuma N....Yamada M. (2003)
Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. (PubMed id 10234503)^{1, 2, 7} Groenskov K.... Broendum-Nielsen K. (1999)
PAX6 mutations reviewed. (PubMed id 9482572)^{1, 2, 7} Prosser J. and van Heyningen V. (1998)
The human PAX6 gene is mutated in two patients with aniridia. (PubMed id 1302030)^{1, 3, 7} Jordan T....van Heyningen V. (1992)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 5080	HGNC: 8620	AceView: PAX6	Ensembl:ENSG00000007372	euGenes: HUgn5080
ECgene: PAX6	Kegg: 5080	H-InvDB: PAX6

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for PAX6	Genetics and Cytogenetics in Oncology and Haematology
Human PAX6 allelic variant database web site	http://pax6.hgu.mrc.ac.uk/
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PAX6

Intellectual Property for PAX6 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from XenneX, Inc.)

About This Section

Patent Information for PAX6 gene:
Search GeneIP for patents involving PAX6

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or Enzo Life Sciences)
About This Section

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for PAX6		Antibodies for PAX6
	Super-pooled esiRNAs for PAX6		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for PAX6		microRNA Mimics for PAX6
	"Your Favorite Gene" Pathways and Molecular Interaction Networks		Browse Nano Scale siRNA at Sigma-Aldrich
	Browse iPSC Reprogramming Factors at Sigma-Aldrich		Browse small molecules at Sigma-Aldrich
	FLAG tag genes for PAX6		Browse ELISAs at Sigma-Aldrich
	Browse microRNA Target Validation Systems at Sigma-Aldrich		Browse CompoZr Knockout ZFN at Sigma-Aldrich
	feedback

	Antibodies for PAX6 (Pax6)		Cell Culture Products
	ELISAs		Flow Cytometry Kits
	Primer Pairs		Kinase Activity Assays/Reagents
	ELISpot Kits/Development Modules		TFB/Immunoprecipitation Assays
	Apoptosis Detection Kits/Reagents		Protease Activity Assays/Reagents
	DNA Damage/Repair Kits/Reagents		Multiplex/Array Assay Kits/Reagents
	Cell Selection/Detection Kits/Reagents		ELISA/Assay Development Kits/Reagents
	Phosphatase Activity Assays/Reagents		Recombinant/Natural Proteins

	Tagged/untagged cDNA clones
	Validated SYBR primer pairs
	Purified proteins from HEK293T cells
	Lysates
	Western blot validated antibodies
	shRNA in GFP-retroviral vector
	siRNA
	Custom Immunoassay Development
	Fluorogenic Cell Assay Kits
	miRNA Primers for qPCR Assays
	3' UTR Clones for miRNA Target Studies
	miRNA Expression Plasmids

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PAX6
	Search QIAGEN SeqTarget long-range PCR primers for resequencing for PAX6
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for PAX6
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PAX6

	GenScript Custom Purified and Recombinant Proteins Services for PAX6		GenScript Custom cDNA clones with any tag delivered in your preferred vector Services for PAX6
	GenScript Custom Assay Services for PAX6		GenScript Custom Superior Antibodies Services for PAX6
	GenScript Custom overexpressing Cell Line Services for PAX6		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in PAX6 promoter
	Search Chromatin IP Primers for PAX6
	RT² qPCR Primer Assay for PAX6
	GNC Network for PAX6
	Assays for microRNAs that regulate PAX6
	SABiosciences PCR Arrays including PAX6

Search Tocris compounds for PAX6

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological cDNA Clones
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	Antibodies for PAX6
	Proteins for PAX6
	Lysates for PAX6

Antibodies for PAX6

Browse ProSpec Recombinant Proteins

ELISAs and CLIAs for PAX6

GeneCards Homepage - Last full update: 31 Dec 2010 - Incremental updates: 9 Jan 2011 , 10 Jan 2011

View Random Gene

Category
GIFtS Group

The GeneCards human gene database gene index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

PAX6 gene at Home site.

hostname: www-ab3 db genecards_305 index build: 81e solr: 1.4

Advanced Search

Export list of displayed genes

PAX6 Gene

protein-coding GIFtS: 68

Aliases &
Descriptions
for PAX6 gene

Summaries
for PAX6 gene

Genomic Views
for PAX6 gene

Proteins
for PAX6 gene

Protein Domains/
Families
for PAX6 gene

Gene Function
for PAX6 gene

Pathways & Interactions
for PAX6 gene

Drugs & Compounds
for PAX6 gene

Transcripts
for PAX6 gene

Expression
for PAX6 gene

Orthologs
for PAX6 gene

Paralogs
for PAX6 gene

Genomic Variants
for PAX6 gene

Disorders & Mutations
for PAX6 gene

Medical News
for PAX6 gene

Publications
for PAX6 gene

External Searches for PAX6 gene

Genome Databases showing PAX6 gene

Other Databases showing PAX6 gene

Specialized Databases showing PAX6 gene

Intellectual Property
for PAX6 gene

Products
for PAX6 gene

View Random Gene

PAX6 (Gene Symbol)
paired box 6
AN2
WAGR
D11S812E
AN
Aniridia type II protein
MGDA
paired box gene 6 (aniridia, keratitis)
OTTHUMP00000038839
OTTHUMP00000038838
OTTHUMP00000038837
OTTHUMP00000038834
paired box protein Pax-6
oculorhombin
MGC17209
OTTHUMP00000038840
paired box homeotic gene-6
OTTHUMP00000038836
Oculorhombin

Developmental Disabilities
GLAUCOMA, CONGENITAL
Microcornea
glaucoma
Medulloblastoma
Anomaly Peters
Rieger syndrome
Retinoblastoma
MICROPHTHALMIA
Glioma
Astrocytoma
Congenital Cataract
Glucose Intolerance
Leukemia
Retinitis Pigmentosa
Ischemia
Eye Abnormalities
CORNEAL DYSTROPHY
congenital malformation
Coloboma
Cataract
Schizophrenia
IRIS COLOBOMA
disability
Cancer
Myopia
Eye Diseases
Wilms tumor
Hypoplasia
Microcephaly
Albinism
Colorectal Cancer
Aniridia
developmental delay
Hyperglycemia
Anophthalmia
GENITOURINARY ANOMALY
Retinal Degeneration
Chromosomal Aberrations
Keratitis
Mental Retardation
Tumors
Trisomy
Carcinoma Embryonal
WAGR Syndrome
Nystagmus Congenital
genetic disorder
Glioblastoma

Advanced Search

Export list of displayed genes

PAX6 Gene

protein-coding GIFtS: 68

Aliases & Descriptionsfor PAX6 gene

Summariesfor PAX6 gene

Genomic Viewsfor PAX6 gene

Proteinsfor PAX6 gene

Protein Domains/Familiesfor PAX6 gene

Gene Functionfor PAX6 gene

Pathways & Interactionsfor PAX6 gene

Drugs & Compoundsfor PAX6 gene

Transcriptsfor PAX6 gene

Expression for PAX6 gene

Orthologsfor PAX6 gene

Paralogsfor PAX6 gene

Genomic Variantsfor PAX6 gene

Disorders & Mutationsfor PAX6 gene

Medical Newsfor PAX6 gene

Publicationsfor PAX6 gene

External Searches for PAX6 gene

Genome Databases showing PAX6 gene

Other Databases showing PAX6 gene

Specialized Databases showing PAX6 gene

Intellectual Propertyfor PAX6 gene

Productsfor PAX6 gene

View Random Gene

Aliases &
Descriptions
for PAX6 gene

Summaries
for PAX6 gene

Genomic Views
for PAX6 gene

Proteins
for PAX6 gene

Protein Domains/
Families
for PAX6 gene

Gene Function
for PAX6 gene

Pathways & Interactions
for PAX6 gene

Drugs & Compounds
for PAX6 gene

Transcripts
for PAX6 gene

Expression
for PAX6 gene

Orthologs
for PAX6 gene

Paralogs
for PAX6 gene

Genomic Variants
for PAX6 gene

Disorders & Mutations
for PAX6 gene

Medical News
for PAX6 gene

Publications
for PAX6 gene

Intellectual Property
for PAX6 gene

Products
for PAX6 gene