Otx2 orthodenticle homeobox 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Otx2provided by MGI
Official Full Name: orthodenticle homeobox 2provided by MGI
Primary source: MGI:MGI:97451
See related: Ensembl:ENSMUSG00000021848 AllianceGenome:MGI:97451
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; 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]
Expression: Biased expression in CNS E11.5 (RPKM 12.6), whole brain E14.5 (RPKM 5.2) and 3 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 C1; 14 25.36 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (48894238..48905101, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (48656781..48667644, complement)

Chromosome 14 - NC_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

c-Jun N-terminal kinase 1 (JNK1) phosphorylates OTX2 transcription factor that regulates early retinal development.
Title: c-Jun N-terminal kinase 1 (JNK1) phosphorylates OTX2 transcription factor that regulates early retinal development.
Orthodenticle homeobox 2 is transported to lysosomes by nuclear budding vesicles.
Title: Orthodenticle homeobox 2 is transported to lysosomes by nuclear budding vesicles.
Genetic alterations of TP53 and OTX2 indicate increased risk of relapse in WNT medulloblastomas.
Title: Genetic alterations of TP53 and OTX2 indicate increased risk of relapse in WNT medulloblastomas.
Exogenous Otx2 protects midbrain dopaminergic neurons from MPP(+) by interacting with ATP5a1 and promoting ATP synthesis.
Title: Exogenous Otx2 protects midbrain dopaminergic neurons from MPP(+) by interacting with ATP5a1 and promoting ATP synthesis.
Non-cell-autonomous OTX2 transcription factor regulates anxiety-related behavior in the mouse.
Title: Non-cell-autonomous OTX2 transcription factor regulates anxiety-related behavior in the mouse.
Transcription factor OTX2 silences the expression of cleavage embryo genes and transposable elements.
Title: Transcription factor OTX2 silences the expression of cleavage embryo genes and transposable elements.
Photoreceptor cKO of OTX2 Enhances OTX2 Intercellular Transfer in the Retina and Causes Photophobia.
Title: Photoreceptor cKO of OTX2 Enhances OTX2 Intercellular Transfer in the Retina and Causes Photophobia.
Direct repression of Nanog and Oct4 by OTX2 modulates the contribution of epiblast-derived cells to germline and somatic lineage.
Title: Direct repression of Nanog and Oct4 by OTX2 modulates the contribution of epiblast-derived cells to germline and somatic lineage.
Initiation of Otx2 expression in the developing mouse retina requires a unique enhancer and either Ascl1 or Neurog2 activity.
Title: Initiation of Otx2 expression in the developing mouse retina requires a unique enhancer and either Ascl1 or Neurog2 activity.
OTX2 Non-Cell Autonomous Activity Regulates Inner Retinal Function.
Title: OTX2 Non-Cell Autonomous Activity Regulates Inner Retinal Function.

Submit: New GeneRIF Correction See all GeneRIFs (88)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (42) 1 citation
Endonuclease-mediated (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Otx2 (e-PCR), detects polymorphism
- UniSTS:530694

Otx2 (e-PCR), detects polymorphism
- UniSTS:281113

OTX2_1019 (e-PCR)
- UniSTS:277547

OTX2_V273 (e-PCR)
- UniSTS:277547

Otx2 (e-PCR), detects polymorphism
- UniSTS:516143

Otx2 (e-PCR), detects polymorphism
- UniSTS:516144

Otx2 (e-PCR), detects polymorphism
- UniSTS:238144

BB256399 (e-PCR)
- UniSTS:209023

PMC304098P1 (e-PCR)
- UniSTS:272520

Otx2 (e-PCR), detects polymorphism
- UniSTS:527027

PMC263842P1 (e-PCR)
- UniSTS:272330

RH136748 (e-PCR)
- UniSTS:218837

Otx2 (e-PCR), detects polymorphism
- UniSTS:144103

Otx2 (e-PCR), detects polymorphism
- UniSTS:144104

Otx2 (e-PCR), detects polymorphism
- UniSTS:144105

Otx2 (e-PCR), detects polymorphism
- UniSTS:144106

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables cis-regulatory region sequence-specific DNA binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within anatomical structure development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within animal organ morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within anterior/posterior pattern specification	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within anterior/posterior pattern specification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axon guidance	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell differentiation	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within cell fate commitment	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to leukemia inhibitory factor	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within central nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within diencephalon morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within dopaminergic neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dopaminergic neuron differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within dorsal/ventral pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endoderm development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within eye photoreceptor cell fate commitment	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within forebrain development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within forebrain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner ear morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of mesendoderm development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within metencephalon development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within midbrain development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within midbrain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
involved_in multicellular organism development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within neuroepithelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron fate commitment	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron fate determination	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron fate specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within oligodendrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gastrulation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within primitive streak formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein-containing complex assembly	ISO Inferred from Sequence Orthology more info
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within somite rostral/caudal axis specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within telencephalon regionalization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in growth cone	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IC Inferred by Curator more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: homeobox protein OTX2

Names: orthodenticle homolog 2

NCBI Reference Sequences (RefSeq)

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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)

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

See identical proteins and their annotated locations for NP_001273410.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1, 5 and 6 encode the same isoform (a).

Source sequence(s)

AC166574, AK053741, AV513527, BC029667, BQ959742

Consensus CDS

CCDS70575.1

UniProtKB/TrEMBL

Q8R0B5

Related

ENSMUSP00000112532.2, ENSMUST00000119070.8

Conserved Domains (2) summary

pfam00046
Location:50 → 102

Homeobox; Homeobox domain

pfam03529
Location:161 → 242

TF_Otx; Otx1 transcription factor
NM_001286482.1 → NP_001273411.1 homeobox protein OTX2 isoform b

See identical proteins and their annotated locations for 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

Related

ENSMUSP00000154066.2, ENSMUST00000227404.2

Conserved Domains (2) summary

pfam00046
Location:42 → 94

Homeobox; Homeobox domain

pfam03529
Location:153 → 234

TF_Otx; Otx1 transcription factor
NM_001286483.1 → NP_001273412.1 homeobox protein OTX2 isoform b

See identical proteins and their annotated locations for 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

ENSMUSP00000113690.2, ENSMUST00000118578.9

Conserved Domains (2) summary

pfam00046
Location:42 → 94

Homeobox; Homeobox domain

pfam03529
Location:153 → 234

TF_Otx; Otx1 transcription factor
NM_001360225.1 → NP_001347154.1 homeobox protein OTX2 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1, 5 and 6 encode the same isoform (a).

Source sequence(s)

AC166574, AK053741, BC017609, CF725076, CK621536

Consensus CDS

CCDS70575.1

UniProtKB/TrEMBL

Q8R0B5

Conserved Domains (2) summary

pfam00046
Location:50 → 102

Homeobox; Homeobox domain

pfam03529
Location:161 → 242

TF_Otx; Otx1 transcription factor
NM_001360226.1 → NP_001347155.1 homeobox protein OTX2 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1, 5 and 6 encode the same isoform (a).

Source sequence(s)

AC166574, AK053741, BC017609, CF725076

Consensus CDS

CCDS70575.1

UniProtKB/TrEMBL

Q8R0B5

Conserved Domains (2) summary

pfam00046
Location:50 → 102

Homeobox; Homeobox domain

pfam03529
Location:161 → 242

TF_Otx; Otx1 transcription factor
NM_144841.5 → NP_659090.1 homeobox protein OTX2 isoform b

See identical proteins and their annotated locations for 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, BC017609

Consensus CDS

CCDS49473.1

UniProtKB/TrEMBL

Q8VD35

Related

ENSMUSP00000113930.2, ENSMUST00000122009.8

Conserved Domains (2) summary

pfam00046
Location:42 → 94

Homeobox; Homeobox domain

pfam03529
Location:153 → 234

TF_Otx; Otx1 transcription factor

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000080.7 Reference GRCm39 C57BL/6J

Range

48894238..48905101 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017315914.2 → XP_017171403.1 homeobox protein OTX2 isoform X1

UniProtKB/TrEMBL

Q8R0B5

Conserved Domains (2) summary

pfam00046
Location:50 → 102

Homeobox; Homeobox domain

pfam03529
Location:161 → 242

TF_Otx; Otx1 transcription factor
XM_011244988.3 → XP_011243290.1 homeobox protein OTX2 isoform X1

See identical proteins and their annotated locations for XP_011243290.1

UniProtKB/TrEMBL

Q8R0B5

Conserved Domains (2) summary

pfam00046
Location:50 → 102

Homeobox; Homeobox domain

pfam03529
Location:161 → 242

TF_Otx; Otx1 transcription factor
XM_011244989.3 → XP_011243291.1 homeobox protein OTX2 isoform X2

See identical proteins and their annotated locations for XP_011243291.1

UniProtKB/TrEMBL

Q8VD35

Related

ENSMUSP00000154264.2, ENSMUST00000226501.2

Conserved Domains (2) summary

pfam00046
Location:42 → 94

Homeobox; Homeobox domain

pfam03529
Location:153 → 234

TF_Otx; Otx1 transcription factor
XM_030247685.1 → XP_030103545.1 homeobox protein OTX2 isoform X2

UniProtKB/TrEMBL

Q8VD35

Conserved Domains (2) summary

pfam00046
Location:42 → 94

Homeobox; Homeobox domain

pfam03529
Location:153 → 234

TF_Otx; Otx1 transcription factor
XM_017315917.2 → XP_017171406.1 homeobox protein OTX2 isoform X2

UniProtKB/TrEMBL

Q8VD35

Conserved Domains (2) summary

pfam00046
Location:42 → 94

Homeobox; Homeobox domain

pfam03529
Location:153 → 234

TF_Otx; Otx1 transcription factor