Fields »
ABOUT
HELP
BLOG
OTX2

Please wait until image is loaded before changing channels

GENERAL INFORMATION

Gene name

 OTX2

Gene description

 Orthodenticle homeobox 2

Protein class

 Disease related genes
Predicted intracellular proteins
Transcription factors

Predicted localization

 Intracellular

Number of transcripts

 7
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

Summary

RNA cell category

 Cell line enriched (NTERA-2)

Protein evidence

 Evidence at protein level

Main location

 Not available

DATA RELIABILITY

Reliability score

 Pending cell analysis.

ASSAYS
RNA expression

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enriched (NTERA-2)
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

GENE INFORMATION

Gene name

 OTX2

Synonyms

Description

 Orthodenticle homeobox 2 (HGNC Symbol)

Entrez gene summary

 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]

Chromosome

 14

Cytoband

 q22.3

Chromosome location (bp)

 56799905 - 56810479

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000165588 (version 83.38)

Entrez gene

 5015

UniProt

 P32243 (UniProt - Evidence at protein level)

neXtProt

 NX_P32243

Antibodypedia

 OTX2 antibodies

PROTEIN BROWSER
OTX2-001
OTX2-002
OTX2-003
OTX2-004
OTX2-005
OTX2-006
OTX2-007

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
OTX2-001
ENSP00000343819
ENST00000339475
P32243 [Direct mapping]
Homeobox protein OTX2
F1T0D1 [Target identity:100%; Query identity:100%]
Homeobox protein OTX2; Orthodenticle homolog 2 (Drosophila), isoform CRA_b
Show all
Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001708 [cell fate specification]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006461 [protein complex assembly]
GO:0007275 [multicellular organismal development]
GO:0007411 [axon guidance]
GO:0007417 [central nervous system development]
GO:0007492 [endoderm development]
GO:0008190 [eukaryotic initiation factor 4E binding]
GO:0008589 [regulation of smoothened signaling pathway]
GO:0009887 [organ morphogenesis]
GO:0009952 [anterior/posterior pattern specification]
GO:0009953 [dorsal/ventral pattern formation]
GO:0022037 [metencephalon development]
GO:0030154 [cell differentiation]
GO:0030182 [neuron differentiation]
GO:0030426 [growth cone]
GO:0030900 [forebrain development]
GO:0030901 [midbrain development]
GO:0032525 [somite rostral/caudal axis specification]
GO:0040019 [positive regulation of embryonic development]
GO:0040036 [regulation of fibroblast growth factor receptor signaling pathway]
GO:0042472 [inner ear morphogenesis]
GO:0042706 [eye photoreceptor cell fate commitment]
GO:0043234 [protein complex]
GO:0043565 [sequence-specific DNA binding]
GO:0045165 [cell fate commitment]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046982 [protein heterodimerization activity]
GO:0048663 [neuron fate commitment]
GO:0048664 [neuron fate determination]
GO:0048852 [diencephalon morphogenesis]
GO:0048856 [anatomical structure development]
GO:0090009 [primitive streak formation]
GO:2000543 [positive regulation of gastrulation]
Show all
 297 aa
32.4 kDa 		No 0
OTX2-002
ENSP00000452336
ENST00000555006
P32243 [Direct mapping]
Homeobox protein OTX2
Show all
Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006461 [protein complex assembly]
GO:0007275 [multicellular organismal development]
GO:0007411 [axon guidance]
GO:0008190 [eukaryotic initiation factor 4E binding]
GO:0008589 [regulation of smoothened signaling pathway]
GO:0030426 [growth cone]
GO:0030900 [forebrain development]
GO:0030901 [midbrain development]
GO:0040019 [positive regulation of embryonic development]
GO:0040036 [regulation of fibroblast growth factor receptor signaling pathway]
GO:0043234 [protein complex]
GO:0043565 [sequence-specific DNA binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0090009 [primitive streak formation]
GO:2000543 [positive regulation of gastrulation]
Show all
 289 aa
31.6 kDa 		No 0
OTX2-003
ENSP00000451272
ENST00000555804
G3V3J3 [Direct mapping]
Homeobox protein OTX2
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0005634 [nucleus]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0043565 [sequence-specific DNA binding]
Show all
 163 aa
18.1 kDa 		No 0
OTX2-004
ENSP00000450468
ENST00000554559
F1T0C9 [Direct mapping]
Homeobox protein OTX2
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
Show all
 35 aa
3.8 kDa 		No 0
OTX2-005
ENSP00000474486
ENST00000554788
F1T0C9 [Direct mapping]
Homeobox protein OTX2
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
Show all
 35 aa
3.8 kDa 		No 0
OTX2-006
ENSP00000451357
ENST00000554845
G3V3P9 [Direct mapping]
Homeobox protein OTX2
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005634 [nucleus]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0007275 [multicellular organismal development]
GO:0043565 [sequence-specific DNA binding]
Show all
 239 aa
26 kDa 		No 0
OTX2-007
ENSP00000386185
ENST00000408990
P32243 [Direct mapping]
Homeobox protein OTX2
Show all
Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006461 [protein complex assembly]
GO:0007275 [multicellular organismal development]
GO:0007411 [axon guidance]
GO:0008190 [eukaryotic initiation factor 4E binding]
GO:0008589 [regulation of smoothened signaling pathway]
GO:0030426 [growth cone]
GO:0030900 [forebrain development]
GO:0030901 [midbrain development]
GO:0040019 [positive regulation of embryonic development]
GO:0040036 [regulation of fibroblast growth factor receptor signaling pathway]
GO:0043234 [protein complex]
GO:0043565 [sequence-specific DNA binding]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0090009 [primitive streak formation]
GO:2000543 [positive regulation of gastrulation]
Show all
 289 aa
31.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.