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Otx2 orthodenticle homolog 2 [ Mus musculus (house mouse) ]

Gene ID: 18424, updated on 19-Sep-2014
Official Symbol
Otx2provided by MGI
Official Full Name
orthodenticle homolog 2provided by MGI
Primary source
MGI:MGI:97451
See related
Ensembl:ENSMUSG00000021848; Vega:OTTMUSG00000032534
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
E130306E05Rik
Summary
This gene encodes a protein that belongs to the homeobox family of transcription factors. The encoded protein plays a role in the development and patterning of the head. This protein regulates development of the choroid plexuses in the brain affecting composition of cerebrospinal fluid in the developing brain and is thought to function in the development of sense organs in the embryo. In humans, mutations in this gene are associated with pituitary hormone deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2013]
See Otx2 in Epigenomics, MapViewer
Location:
14 C1; 14 25.36 cM
Exon count:
6
Annotation release Status Assembly Chr Location
104 current GRCm38.p2 (GCF_000001635.22) 14 NC_000080.6 (48657677..48667644, complement)

Chromosome 14 - NC_000080.6Genomic Context describing neighboring genes Neighboring gene transmembrane protein 260 Neighboring gene uncharacterized LOC102639459 Neighboring gene orthodenticle homolog 2 opposite strand 1 Neighboring gene predicted gene 3552 Neighboring gene transcription initiation factor TFIID subunit 13-like

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Dopminergic Neurogenesis, organism-specific biosystem (from WikiPathways)
    Dopminergic Neurogenesis, organism-specific biosystemhttp://www.michaeljfox.org/research_MJFFfundingPortfolio_searchableAwardedGrants_3.cfm?ID=141
  • PluriNetWork, organism-specific biosystem (from WikiPathways)
    PluriNetWork, organism-specific biosystemThe aim of the PluriNetWork is to give an overview of specific mechanisms associated with pluripotency in mouse. Each node represents a gene and its corresponding protein product. As stated, we inten...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by MGI

Process Evidence Code Pubs
anatomical structure development IGI
Inferred from Genetic Interaction
more info
PubMed 
anterior/posterior pattern specification IGI
Inferred from Genetic Interaction
more info
PubMed 
anterior/posterior pattern specification IMP
Inferred from Mutant Phenotype
more info
PubMed 
axon guidance ISO
Inferred from Sequence Orthology
more info
 
cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell fate commitment IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell fate specification IMP
Inferred from Mutant Phenotype
more info
PubMed 
central nervous system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
diencephalon morphogenesis IGI
Inferred from Genetic Interaction
more info
 
dorsal/ventral pattern formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
endoderm development IGI
Inferred from Genetic Interaction
more info
PubMed 
eye photoreceptor cell fate commitment IMP
Inferred from Mutant Phenotype
more info
PubMed 
forebrain development IGI
Inferred from Genetic Interaction
more info
PubMed 
forebrain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
inner ear morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
metencephalon development IGI
Inferred from Genetic Interaction
more info
 
midbrain development IGI
Inferred from Genetic Interaction
more info
PubMed 
midbrain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
multicellular organismal development IEA
Inferred from Electronic Annotation
more info
 
neuron differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuron fate commitment IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuron fate determination IMP
Inferred from Mutant Phenotype
more info
PubMed 
organ morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of embryonic development IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of gastrulation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter ISO
Inferred from Sequence Orthology
more info
 
positive regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
primitive streak formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein complex assembly ISO
Inferred from Sequence Orthology
more info
 
regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
somite rostral/caudal axis specification IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription from RNA polymerase II promoter ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
growth cone ISO
Inferred from Sequence Orthology
more info
 
nucleus IC
Inferred by Curator
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
protein complex ISO
Inferred from Sequence Orthology
more info
 
Preferred Names
homeobox protein OTX2
Names
homeobox protein OTX2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001286481.1NP_001273410.1  homeobox protein OTX2 isoform a

    See proteins identical to NP_001273410.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC166574, AK053741, AV513527, BC029667, BQ959742
    Consensus CDS
    CCDS70575.1
    UniProtKB/TrEMBL
    Q8R0B5
    UniProtKB/TrEMBL
    Q8VD35
    Conserved Domains (2) summary
    cd00086
    Location:47102
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    pfam03529
    Location:161243
    TF_Otx; Otx1 transcription factor
  2. NM_001286482.1NP_001273411.1  homeobox protein OTX2 isoform b

    See proteins identical to NP_001273411.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The encoded protein (isoform b) is shorter than isoform a. Variants 2, 3 and 4 encode the same protein.
    Source sequence(s)
    AC166574, AK053741, AV513527, BC017609, BQ959742, CO424557
    Consensus CDS
    CCDS49473.1
    UniProtKB/TrEMBL
    Q8VD35
    Conserved Domains (2) summary
    cd00086
    Location:3994
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    pfam03529
    Location:153235
    TF_Otx; Otx1 transcription factor
  3. NM_001286483.1NP_001273412.1  homeobox protein OTX2 isoform b

    See proteins identical to NP_001273412.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The encoded protein (isoform b) is shorter than isoform a. Variants 2, 3 and 4 encode the same protein.
    Source sequence(s)
    AC166574, AK053741, AK081535, AV513527
    Consensus CDS
    CCDS49473.1
    UniProtKB/TrEMBL
    Q8VD35
    Related
    ENSMUSP00000113690, OTTMUSP00000043185, ENSMUST00000118578, OTTMUST00000080957
    Conserved Domains (2) summary
    cd00086
    Location:3994
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    pfam03529
    Location:153235
    TF_Otx; Otx1 transcription factor
  4. NM_144841.4NP_659090.1  homeobox protein OTX2 isoform b

    See proteins identical to NP_659090.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The encoded protein (isoform b) is shorter than isoform a. Variants 2, 3 and 4 encode the same protein.
    Source sequence(s)
    AC166574, AK053741, AV513527, BC017609
    Consensus CDS
    CCDS49473.1
    UniProtKB/TrEMBL
    Q8VD35
    Conserved Domains (2) summary
    cd00086
    Location:3994
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    pfam03529
    Location:153235
    TF_Otx; Otx1 transcription factor

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm38.p2 C57BL/6J

Genomic

  1. NC_000080.6 

    Range
    48657677..48667644
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006518690.1XP_006518753.1  

    See proteins identical to XP_006518753.1

    UniProtKB/TrEMBL
    Q8R0B5
    Conserved Domains (2) summary
    cd00086
    Location:47102
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    pfam03529
    Location:161243
    TF_Otx; Otx1 transcription factor
  2. XM_006518689.1XP_006518752.1  

    See proteins identical to XP_006518752.1

    UniProtKB/TrEMBL
    Q8R0B5
    Conserved Domains (2) summary
    cd00086
    Location:47102
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    pfam03529
    Location:161243
    TF_Otx; Otx1 transcription factor
  3. XM_006518694.1XP_006518757.1  

    See proteins identical to XP_006518757.1

    UniProtKB/TrEMBL
    Q8VD35
    Conserved Domains (2) summary
    cd00086
    Location:3994
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    pfam03529
    Location:153235
    TF_Otx; Otx1 transcription factor
  4. XM_006518693.1XP_006518756.1  

    See proteins identical to XP_006518756.1

    UniProtKB/TrEMBL
    Q8VD35
    Conserved Domains (2) summary
    cd00086
    Location:3994
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    pfam03529
    Location:153235
    TF_Otx; Otx1 transcription factor
  5. XM_006518692.1XP_006518755.1  

    See proteins identical to XP_006518755.1

    UniProtKB/TrEMBL
    Q8R0B5
    Conserved Domains (2) summary
    cd00086
    Location:47102
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    pfam03529
    Location:161243
    TF_Otx; Otx1 transcription factor
  6. XM_006518691.1XP_006518754.1  

    See proteins identical to XP_006518754.1

    UniProtKB/TrEMBL
    Q8R0B5
    Conserved Domains (2) summary
    cd00086
    Location:47102
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
    pfam03529
    Location:161243
    TF_Otx; Otx1 transcription factor

Alternate Mm_Celera

Genomic

  1. AC_000036.1 

    Range
    44857781..44867792
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)