Atlas of Genetics and Cytogenetics in Oncology and Haematology

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OTX2 (orthodenticle homeobox 2)

Identity

Other namesMCOPS5
MGC45000
HGNC (Hugo) OTX2
Location 14q22.3
Location_base_pair Starts at 57267427 and ends at 57277184 bp from pter ( according to hg19-Feb_2009)
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 (Hugo)OTX2   8522
Entrez_Gene (NCBI)OTX2  5015  orthodenticle homeobox 2
Cards
GeneCards (Weizmann)OTX2
Ensembl (Hinxton)ENSG00000165588 [Gene_View]  OTX2 [Vega]
AceView (NCBI)OTX2
Genatlas (Paris)OTX2
euGene (Indiana)5015
SOURCE (Stanford)NM_021728 NM_172337
Gene Expression (Array Express) ENSG00000165588
Genomic and cartography
GoldenPath (UCSC)OTX2  -  14q22.3   chr14:57267427-57277184 -  14q22.3   [Description]    (hg19-Feb_2009)
EnsemblOTX2 - 14q22.3 [CytoView]
Mapping of homologs : NCBIOTX2 [Mapview]
OMIM600037   610125   
Gene and transcription
Gene : Genbank (Entrez)AF093138 AK314271 BC032579 BE781530 DQ890875
Reference sequence (RefSeq transcript) :SRSNM_021728 NM_172337
Reference transcript : EntrezNM_021728 NM_172337
RefSeq genomic : SRSAC_000057 AC_000146 NC_000014 NG_008204 NT_026437 NW_001838111 NW_925561
RefSeq genomic : EntrezAC_000057 AC_000146 NC_000014 NG_008204 NT_026437 NW_001838111 NW_925561
Consensus coding sequences : CCDS NCBIOTX2
Cluster EST : UnigeneHs.288655 [ SRS ] Hs.288655 [ NCBI ]
Alternative Splicing : Fast-db (Paris)388
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtP32243 (SRS) P32243 (Expasy) P32243 (Uniprot)
With graphics : InterProP32243
Splice isoforms : VarSplice FASTAP32243(VarSplice FASTA)
Domaine pattern : Prosite (SRS)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domain pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domains : Interpro (SRS)Homeobox    Homeobox_CS    Homeodomain-like    Homeodomain-rel    Otx2_TF    Otx_TF    Otx_TF_C   
Domains : Interpro (EBI)Homeobox    Homeobox_CS    Homeodomain-like    Homeodomain-rel    Otx2_TF    Otx_TF    Otx_TF_C   
Related proteins : CluSTrP32243
Domain families : Pfam SRSHomeobox (PF00046)    TF_Otx (PF03529)   
Domain families : Pfam SangerHomeobox (PF00046)    TF_Otx (PF03529)   
Domain families : Pfam NCBIpfam00046    pfam03529   
Domain families : Smart EMBLHOX (SM00389)  
Blocks (Seattle)P32243
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
Human Protein AtlasENSG00000165588
HPRD07190
Protein Interaction databases
DIP (DOE-UCLA)P32243
IntAct (EBI)P32243
FunCoupENSG00000165588
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIOTX2
SNP : GeneSNP UtahOTX2
SNP : HGBaseOTX2
Genetic variants : HAPMAPOTX2
Somatic Mutations in Cancer : COSMICOTX2 
Mutations and Diseases : HGMDOTX2
Hereditary diseases : OMIM600037    610125   
Hereditary diseases : GENETests600037    610125   
Diseases : Genetic AssociationOTX2
General knowledge
Homologs : HomoloGeneOTX2
Homology/Alignments : Family Browser UCSCOTX2
Phylogenetic Trees/Animal Genes : TreeFamOTX2
Chemical/Protein Interactions : CTD5015
Keywords Ontology : AmiGOtranscription factor activity  nucleus  regulation of transcription, DNA-dependent  multicellular organismal development  axon guidance  eukaryotic initiation factor 4E binding  regulation of smoothened signaling pathway  growth cone  forebrain development  midbrain development  regulation of fibroblast growth factor receptor signaling pathway  sequence-specific DNA binding  
Keywords Ontology : EGO-EBItranscription factor activity  nucleus  regulation of transcription, DNA-dependent  multicellular organismal development  axon guidance  eukaryotic initiation factor 4E binding  regulation of smoothened signaling pathway  growth cone  forebrain development  midbrain development  regulation of fibroblast growth factor receptor signaling pathway  sequence-specific DNA binding  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
Probes : ImagenesOTX2 Related clones (RZPD - Berlin)
Literature
PubMed34 Pubmed reference(s) in Entrez
PubGeneOTX2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated05-2010Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jul 9 11:17:06 CEST 2010
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