Free for academic non-profit institutions. Other users need a Commercial license

Aliases for OTX2 Gene

Aliases for OTX2 Gene

  • Orthodenticle Homeobox 2 2 3 5
  • Orthodenticle Homolog 2 3 4
  • Orthodenticle Homolog 2 (Drosophila) 2
  • Homeobox Protein OTX2 3
  • MCOPS5 3
  • CPHD6 3

External Ids for OTX2 Gene

Previous GeneCards Identifiers for OTX2 Gene

  • GC14M054592
  • GC14M051063
  • GC14M055257
  • GC14M056337
  • GC14M057267
  • GC14M037431

Summaries for OTX2 Gene

Entrez Gene Summary for OTX2 Gene

  • This gene encodes a member of the bicoid subfamily of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and plays a role in brain, craniofacial, and sensory organ development. The encoded protein also influences the proliferation and differentiation of dopaminergic neuronal progenitor cells during mitosis. Mutations in this gene cause syndromic microphthalmia 5 (MCOPS5) and combined pituitary hormone deficiency 6 (CPHD6). This gene is also suspected of having an oncogenic role in medulloblastoma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Pseudogenes of this gene are known to exist on chromosomes two and nine. [provided by RefSeq, Jul 2012]

GeneCards Summary for OTX2 Gene

OTX2 (Orthodenticle Homeobox 2) is a Protein Coding gene. Diseases associated with OTX2 include Microphthalmia, Syndromic 5 and Pituitary Hormone Deficiency, Combined, 6. Among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and TP53 network. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is OTX1.

UniProtKB/Swiss-Prot for OTX2 Gene

  • Probably plays a role in the development of the brain and the sense organs. Can bind to the BCD target sequence (BTS): 5-TCTAATCCC-3.

Gene Wiki entry for OTX2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OTX2 Gene

Genomics for OTX2 Gene

Regulatory Elements for OTX2 Gene

Enhancers for OTX2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14F056815 0.5 FANTOM5 11.8 -5.0 -4985 0.3 CBX8 CBX2 OTX2 OTX2-AS1 RN7SL461P
GH14F056899 0.8 FANTOM5 ENCODE 5.3 -89.6 -89643 1.5 SMARCA4 SCRT2 TEAD4 OTX2 GC14P056899 RPL3P3
GH14F056796 0.7 FANTOM5 ENCODE 6 +14.0 13964 0.4 JUND REST OTX2 AP5M1 GC14M056800 ENSG00000258703
GH14F056760 0.7 FANTOM5 5.9 +50.0 49992 0.4 JUNB FEZF1 TSHZ1 ZEB2 ZNF843 ZNF366 ZNF692 ZNF530 FOXP2 WT1 OTX2 TMEM260 ENSG00000258703 GC14M056800
GH14F056905 0.8 FANTOM5 ENCODE 2.5 -95.1 -95112 0.6 RFX1 ZNF169 MAX OTX2 GC14P056899 RPL3P3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around OTX2 on UCSC Golden Path with GeneCards custom track

Genomic Location for OTX2 Gene

Chromosome:
14
Start:
56,799,905 bp from pter
End:
56,810,479 bp from pter
Size:
10,575 bases
Orientation:
Minus strand

Genomic View for OTX2 Gene

Genes around OTX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OTX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OTX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OTX2 Gene

Proteins for OTX2 Gene

  • Protein details for OTX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P32243-OTX2_HUMAN
    Recommended name:
    Homeobox protein OTX2
    Protein Accession:
    P32243
    Secondary Accessions:
    • B2RAN5
    • Q6GTV3
    • Q9HAW3
    • Q9P2R1

    Protein attributes for OTX2 Gene

    Size:
    289 amino acids
    Molecular mass:
    31636 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for OTX2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OTX2 Gene

Post-translational modifications for OTX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for OTX2 Gene

Domains & Families for OTX2 Gene

Gene Families for OTX2 Gene

Graphical View of Domain Structure for InterPro Entry

P32243

UniProtKB/Swiss-Prot:

OTX2_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the paired homeobox family. Bicoid subfamily.
Domain:
  • Contains 1 homeobox DNA-binding domain.
Family:
  • Belongs to the paired homeobox family. Bicoid subfamily.
genes like me logo Genes that share domains with OTX2: view

Function for OTX2 Gene

Molecular function for OTX2 Gene

GENATLAS Biochemistry:
Drosophila orthodenticle (otd) homolog,paired-like homeo domain encoding gene 2,expressed in the developing brain of the anterior neural plate,in mouse embryo,playing a major role in gastrulation,essential for the early specification of neuroectoderm destined to become fore midbrain
UniProtKB/Swiss-Prot Function:
Probably plays a role in the development of the brain and the sense organs. Can bind to the BCD target sequence (BTS): 5-TCTAATCCC-3.

Gene Ontology (GO) - Molecular Function for OTX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 12559959
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 12559959
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
GO:0005515 protein binding IPI 20530484
genes like me logo Genes that share ontologies with OTX2: view
genes like me logo Genes that share phenotypes with OTX2: view

Human Phenotype Ontology for OTX2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for OTX2 Gene

MGI Knock Outs for OTX2:

Animal Model Products

miRNA for OTX2 Gene

miRTarBase miRNAs that target OTX2
Targeted motifs for OTX2 Gene
HOMER Transcription Factor Regulatory Elements motif OTX2
  • Consensus sequence: NYTAATCCYB Submotif: canonical Cell Type: EpiLC GEO ID: GSE56098

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for OTX2 Gene

Localization for OTX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OTX2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OTX2 gene
Compartment Confidence
nucleus 5
extracellular 1
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for OTX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 24399192
GO:0030426 growth cone IDA 16267555
GO:0043234 protein complex IDA 20530484
genes like me logo Genes that share ontologies with OTX2: view

Pathways & Interactions for OTX2 Gene

genes like me logo Genes that share pathways with OTX2: view

Pathways by source for OTX2 Gene

1 BioSystems pathway for OTX2 Gene

Gene Ontology (GO) - Biological Process for OTX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0006461 protein complex assembly IDA 20530484
GO:0007275 multicellular organism development IEA --
GO:0007411 axon guidance IDA 16267555
genes like me logo Genes that share ontologies with OTX2: view

No data available for SIGNOR curated interactions for OTX2 Gene

Drugs & Compounds for OTX2 Gene

(1) Additional Compounds for OTX2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with OTX2: view

Transcripts for OTX2 Gene

Unigene Clusters for OTX2 Gene

Orthodenticle homeobox 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for OTX2 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d · 5e
SP1: - - - -
SP2: - - - - -
SP3: - - - - - - -
SP4: - - -
SP5: - -
SP6: -
SP7:
SP8: - - -

Relevant External Links for OTX2 Gene

GeneLoc Exon Structure for
OTX2
ECgene alternative splicing isoforms for
OTX2

Expression for OTX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OTX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for OTX2 Gene

This gene is overexpressed in Brain - Cerebellum (x21.2), Brain - Cerebellar Hemisphere (x19.4), and Brain - Substantia nigra (x4.7).

Protein differential expression in normal tissues from HIPED for OTX2 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for OTX2 Gene



Protein tissue co-expression partners for OTX2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of OTX2 Gene:

OTX2

SOURCE GeneReport for Unigene cluster for OTX2 Gene:

Hs.288655

mRNA Expression by UniProt/SwissProt for OTX2 Gene:

P32243-OTX2_HUMAN
Tissue specificity: Expressed in brain.
genes like me logo Genes that share expression patterns with OTX2: view

Primer Products

Orthologs for OTX2 Gene

This gene was present in the common ancestor of animals.

Orthologs for OTX2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OTX2 34 35
  • 100 (n)
oppossum
(Monodelphis domestica)
Mammalia OTX2 35
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia OTX2 34 35
  • 96.66 (n)
dog
(Canis familiaris)
Mammalia OTX2 34 35
  • 96.52 (n)
mouse
(Mus musculus)
Mammalia Otx2 34 16 35
  • 94.84 (n)
rat
(Rattus norvegicus)
Mammalia LOC100911492 34
  • 94.39 (n)
chicken
(Gallus gallus)
Aves OTX2 35
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OTX2 35
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10021 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.11672 34
zebrafish
(Danio rerio)
Actinopterygii otx2 34 35
  • 79.47 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6859 34
fruit fly
(Drosophila melanogaster)
Insecta oc 35
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ttx-1 35
  • 22 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CS-OTX 35
  • 36 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3985 34
Species where no ortholog for OTX2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for OTX2 Gene

ENSEMBL:
Gene Tree for OTX2 (if available)
TreeFam:
Gene Tree for OTX2 (if available)

Paralogs for OTX2 Gene

Paralogs for OTX2 Gene

(12) SIMAP similar genes for OTX2 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for OTX2 Gene

genes like me logo Genes that share paralogs with OTX2: view

Variants for OTX2 Gene

Sequence variations from dbSNP and Humsavar for OTX2 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs104894464 Microphthalmia, syndromic, 5 (MCOPS5) [MIM:610125], Pathogenic 56,802,340(-) AGAAT(C/G/T)GAAGA nc-transcript-variant, reference, missense, stop-gained
rs370761964 Pituitary hormone deficiency, combined, 6 (CPHD6) [MIM:613986], Pathogenic 56,801,931(+) CTGCA(C/T)TGGTA nc-transcript-variant, reference, missense
rs376333965 Microphthalmia, syndromic, 5 (MCOPS5) [MIM:610125] 56,802,208(+) GGGGG(G/T)AGTGA nc-transcript-variant, reference, missense
rs753783256 Microphthalmia, syndromic, 5 (MCOPS5) [MIM:610125] 56,802,205(+) AGAGG(C/G)GGGAG nc-transcript-variant, reference, missense
rs786205224 Retinal dystrophy, early-onset, with or without pituitary dysfunction (RDEOP) [MIM:610125], Pathogenic 56,804,202(-) TGCCC(A/G)AGTCG intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for OTX2 Gene

Variant ID Type Subtype PubMed ID
nsv1048136 CNV gain 25217958

Variation tolerance for OTX2 Gene

Residual Variation Intolerance Score: 25.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.30; 6.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for OTX2 Gene

Human Gene Mutation Database (HGMD)
OTX2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OTX2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OTX2 Gene

Disorders for OTX2 Gene

MalaCards: The human disease database

(22) MalaCards diseases for OTX2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
microphthalmia, syndromic 5
  • retinal dystrophy, early-onset, with or without pituitary dysfunction
pituitary hormone deficiency, combined, 6
  • cphd6
combined pituitary hormone deficiencies, genetic forms
  • familial congenital hypopituitarism
butterfly-shaped pigment dystrophy
  • butterfly-shaped pigmentary macular dystrophy
otx2-related combined pituitary hormone deficiency
  • pituitary hormone deficiency, combined, 6
- elite association - COSMIC cancer census association via MalaCards
Search OTX2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

OTX2_HUMAN
  • Microphthalmia, syndromic, 5 (MCOPS5) [MIM:610125]: Patients manifest unilateral or bilateral microphthalmia/clinical anophthalmia and variable additional features including pituitary dysfunction, coloboma, microcornea, cataract, retinal dystrophy, hypoplasia or agenesis of the optic nerve, agenesis of the corpus callosum, developmental delay, joint laxity, hypotonia, and seizures. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. {ECO:0000269 PubMed:15846561, ECO:0000269 PubMed:20396904, ECO:0000269 PubMed:22577225, ECO:0000269 PubMed:24167467}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Pituitary hormone deficiency, combined, 6 (CPHD6) [MIM:613986]: Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD6 patients manifest neonatal hypoglycemia, and deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone. {ECO:0000269 PubMed:18728160}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Retinal dystrophy, early-onset, with or without pituitary dysfunction (RDEOP) [MIM:610125]: An autosomal dominant ocular disease characterized by pattern dystrophy of the retinal pigment epithelium, and photoreceptor degeneration. Mild developmental anomalies include optic nerve head dysplasia, microcornea, and Rathkes cleft cyst. Some patients manifest pituary dysfunction. {ECO:0000269 PubMed:19956411, ECO:0000269 PubMed:25293953}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for OTX2

Genetic Association Database (GAD)
OTX2
Human Genome Epidemiology (HuGE) Navigator
OTX2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OTX2
genes like me logo Genes that share disorders with OTX2: view

No data available for Genatlas for OTX2 Gene

Publications for OTX2 Gene

  1. A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency. (PMID: 20396904) Ashkenazi-Hoffnung L. … Gat-Yablonski G. (Hum. Genet. 2010) 3 4 22 64
  2. Expression of the homeobox genes PAX6, OTX2, and OTX1 in the early human fetal retina. (PMID: 19414065) Larsen K.B. … ller M. (Int. J. Dev. Neurosci. 2009) 3 4 22 64
  3. Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma. (PMID: 20057906) Zhang X. … Zhang Q. (Mol. Vis. 2009) 3 22 46 64
  4. A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. (PMID: 18728160) Diaczok D. … Radovick S. (J. Clin. Endocrinol. Metab. 2008) 3 4 22 64
  5. Polymorphisms in the homeobox gene OTX2 may be a risk factor for bipolar disorder. (PMID: 17541950) Sabunciyan S. … Weis S. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2007) 3 22 46 64

Products for OTX2 Gene

Sources for OTX2 Gene

Content
Loading form....