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Aliases & Descriptions for OTX2
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases MCOPS5 2 , 5 MGC45000 2 OTTHUMP00000064776 2
Descriptions Orthodenticle homolog 2 2 , 3 homeobox protein OTX2 2 orthodenticle homeobox 2 2 orthodenticle homolog 2 (Drosophila) 1
Search outside databases for aliases for OTX2 genePrevious GC identifers: GC14M054592 GC14M051063 GC14M055257
Summaries for OTX2 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for OTX2 : This gene encodes a member of the bicoid sub-family of homeodomain-containing transcriptionfactors. The encoded protein acts as a transcription factor and may play a role in brain andsensory organ development. A similar protein in mice is required for proper forebrain development.Two transcript variants encoding distinct isoforms have been identified for this gene. Otheralternative splice variants may exist, but their full length sequences have not been determined.[provided by RefSeq] UniProtKB/Swiss-Prot: OTX2_HUMAN, P32243 Function : Probably plays a role in the development of the brain and the sense organs. Can bind tothe BCD target sequence (BTS): 5'-TCTAATCCC-3'
Gene Wiki entry for OTX2 (Orthodenticle_homeobox_2)
Genomic Location for OTX2
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
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Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the OTX2 gene Entrez Gene cytogenetic band: 14q21-q22 Ensembl cytogenetic band: 14q23.1 HGNC cytogenetic band: 14q22.3 OTX2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 14 GeneLoc Exon Structure
GeneLoc location for GC14M056337:
(about GC identifiers )
Start:
56,337,178 bp from pter
End:
56,346,940 bp from pter
Size:
9,763 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000014.7 NT_026437.11 Proteins for OTX2
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: OTX2_HUMAN, P32243 (See
protein sequence )Recommended Name: Homeobox protein OTX2 Size : 289 amino acids; 31636 Da
Subcellular location : Nucleus (Probable)
Developmental stage : Embryo
Secondary accessions : Q6GTV3 Q9HAW3 Q9P2R1Alternative splicing : 2 isoforms : P32243-1 P32243-2
REFSEQ proteins (2 alternative transcripts):
NP_068374.1 NP_758840.1 ENSEMBL proteins: ENSP00000386185 ENSP00000343819 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 2 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for OTX2: Assays for OTX2:
Protein
Domains/ Families for OTX2(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P32243 ProtoNet protein and cluster: P32243
2 Blocks protein families : IPB003022 Otx2 transcription factor signature IPB003025 Otx transcription factor signature UniProtKB/Swiss-Prot: OTX2_HUMAN, P32243 Similarity : Belongs to the paired homeobox family. Bicoid subfamilySimilarity : Contains 1 homeobox DNA-binding domain
Gene Function for OTX2
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
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Clones , and
Q-PCR Products
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SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_021728 Applied Biosystems Silencer ® siRNAs for OTX2 Sigma-Aldrich siRNA for OTX2 Sigma-Aldrich shRNA for OTX2 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_021728                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_021728                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_021728  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_021728 UniProtKB/Swiss-Prot: OTX2_HUMAN, P32243 Function : Probably plays a role in the development of the brain and the sense organs. Can bind tothe BCD target sequence (BTS): 5'-TCTAATCCC-3'
Genatlas biochemistry entry for OTX2 :Drosophila orthodenticle (otd) homolog,paired-like homeo domain encoding gene 2,expressed in thedeveloping brain of the anterior neural plate,in mouse embryo,playing a major role ingastrulation,essential for the early specification of neuroectoderm destined to become foremidbrain
15/20 MGI mutant phenotypes (inferred from 26 alleles ) (MGI details for Otx2) (see all 20
):3 Gene Ontology (GO) molecular function terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0003700 transcription factor activity
NAS -- GO:0008190 eukaryotic initiation factor 4E binding
TAS 15705863 GO:0043565 sequence-specific DNA binding
IEA --
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Pathways & Interactions for OTX2
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for OTX2 5/35 Interacting proteins for OTX2 (ENSP00000343819 3 P32243 2 ) via UniProtKB, MINT, and/or STRING (see all 35
)About this table 5/7 Gene Ontology (GO) biological process terms (links to tree view) (see all 7
):
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Drugs & Compounds for OTX2 (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 )
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Browse Tocris compounds for OTX2 1 Novoseek chemical compound relationship for OTX2 gene
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
oligonucleotide
7.17
2
12559959 (1)
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Transcripts for OTX2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
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 Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
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shRNA from
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_021728 Sigma-Aldrich siRNA for OTX2 Sigma-Aldrich shRNA for OTX2 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_021728 NM_172337
REFSEQ mRNAs for OTX2 gene (2 alternative transcripts): NM_021728.2 NM_172337.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_021728 NM_172337
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_021728                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_021728                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_021728  
Additional cDNA sequence: AF093138.1 AK314271.1 BC032579.1
6 DOTS entries : DT.307876 DT.40263755 DT.100025424 DT.100755237 DT.100755238 DT.97842872
24/59 AceView cDNA sequences (see all 59
):BU162097 H08255 BE781530 BQ424035 BE778281 BM564760 BM904035 NM_172337 BU154244 BQ639181 BM676861 AA364594 BC032579 BU187294 BU176852 BE779765 BM799551 BM724395 BM903863 BM698799 BU741661 CA397809 BQ432088 AA334301
highest scoring ESTs for OTX2 :BC032579 BE779002 H08155 AA317337 AA334301 AA364594 AA365227 AF093138 AW953935 BE252764
Unigene Cluster for OTX2: Orthodenticle homeobox 2 Hs.288655 [show with all ESTs ] Unigene Representative Sequence: BC032579 GeneLoc Exon Structure 5/8 Alternative Splicing Database (ASD) splice patterns (SP) for OTX2 (see all 8
) ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d · 5e SP1 :       -   -     -   -                     SP2 :       -   -     -   -     -                 SP3 :       -   -     -   -     -   -   -             SP4 :             -   -     -                 SP5 :             -   -                    
About this scheme ECgene alternative splicing isoforms for OTX2 2 Ensembl transcripts including schematic representations : ENST00000408990
ENST00000339475
Expression for OTX2
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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OTX2 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for OTX2 1 / 2 / 3
5 probe-sets matching OTX2 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: ACCAACTGGTSOURCE GeneReport for Unigene cluster: Hs.288655 UniProtKB/Swiss-Prot: OTX2_HUMAN, P32243 Tissue specificity : Expressed in brain
Orthologs for OTX2
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for OTX2 gene from 5/11 species (see all 11
)
About this table Species with no ortholog for OTX2 ENSEMBL Gene Tree for OTX2 Paralogs for OTX2 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for OTX2 gene GSC 2 GSC2 2 OTX1 2 CRX 2
SNPs/Variants for OTX2 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for OTX2 (up to first 250kb)
Disorders & Mutations for OTX2
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 600037 disorders : 610125 UniProtKB/Swiss-Prot: OTX2_HUMAN, P32243
Defects in OTX2 are the cause of microphthalmia syndromic type 5 (MCOPS5) [MIM:610125].Microphthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size ofa single eye to complete bilateral absence of ocular tissues. Up to 80% of cases of microphthaliaoccur in association with syndromes that include non-ocular abnormalities. MCOPS5 patientsmanifest unilateral or bilateral microphthalmia/clinical anophthalmia and variable additionalfeatures including coloboma, microcornea, cataract, retinal dystrophy, hypoplasia or agenesis ofthe optic nerve, agenesis of the corpus callosum, developmental delay, joint laxity, hypotonia,and seizures
4 Novoseek disease relationships for OTX2 gene
About this table GeneTests: OTX2 Anophthalmia/Microphthalmia Human Gene Mutation Database : OTX2 Human Genome Epidemiology Navigator: OTX2 (3 documents)
Medical News for OTX2 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for OTX2 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/56 PubMed articles for OTX2 gene (see all 56
): Chromosome locations of human EMX and OTX genes. (PubMed id 7959790) 1, 2, 3 Kastury K....Boncinelli E. (1994) Heterozygous mutations of OTX2 cause severe ocular malformations. (PubMed id 15846561) 3, 4 Ragge N.K.... Hanson I.M. (2005) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Elements regulating the transcription of human interstitial retinoid- binding protein (IRBP) gene in cultured retinoblastoma cells. (PubMed id 10372988) 3, 4 Fong S.L. and Fong W.B. (1999) A vertebrate gene related to orthodenticle contains a homeodomain of the bicoid class and demarcates anterior neuroectoderm in the gastrulating mouse embryo. (PubMed id 8101484) 3, 4 Simeone A.... Boncinelli E. (1993) OTX2 regulates expression of DOPAchrome tautomerase in human retinal pigment epithelium. (PubMed id 12559959) 1, 3 Takeda K....Shibahara S. (2003) A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. (PubMed id 18728160) 1, 3 Diaczok D....Radovick S. (2008) Identification of OTX2 as a medulloblastoma oncogene whose product can be targeted by all-trans retinoic acid. (PubMed id 15705891) 1, 3 Di C....Yan H. (2005) BEST1 expression in the retinal pigment epithelium is modulated by OTX family members. (PubMed id 18849347) 1, 3 Esumi N....Zack D.J. (2009) Polymorphisms in the homeobox gene OTX2 may be a risk factor for bipolar disorder. (PubMed id 17541950) 1, 3 Sabunciyan S....Weis S. (2007)
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Genome Databases showing OTX2
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing OTX2
(According to HUGE )
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Specialized Databases showing OTX2 (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
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Name Description
GeneReviews http://www.genetests.org/query?gene=OTX2
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-- Services for OTX2 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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