OTX2

Protein identityUniProt · HPA

UniProt accession

P32243

Gene

OTX2

Ensembl

ENSG00000165588

Chromosome

14

Canonical length

289 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm,Vesicles

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

289 residues, UniProt reviewed canonical sequence.

>P32243|OTX2
     1  MMSYLKQPPY AVNGLSLTTS GMDLLHPSVG YPATPRKQRR ERTTFTRAQL DVLEALFAKT
    61  RYPDIFMREE VALKINLPES RVQVWFKNRR AKCRQQQQQQ QNGGQNKVRP AKKKTSPARE
   121  VSSESGTSGQ FTPPSSTSVP TIASSSAPVS IWSPASISPL SDPLSTSSSC MQRSYPMTYT
   181  QASGYSQGYA GSTSYFGGMD CGSYLTPMHH QLPGPGATLS PMGTNAVTSH LNQSPASLST
   241  QGYGASSLGF NSTTDCLDYK DQTASWKLNF NADCLDYKDQ TSSWKFQVL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against OTX2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.65

Highest tissue expression

260 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about OTX2.

Disease | AllUniProt

Conditions OTX2 is implicated in, by any mechanism.

• Microphthalmia, syndromic, 5 (MCOPS5) MIM:610125
• Pituitary hormone deficiency, combined, 6 (CPHD6) MIM:613986
• Retinal dystrophy, early-onset, with or without pituitary dysfunction (RDEOP) MIM:610125

Disease | GeneticClinVar

61 pathogenic / likely-pathogenic of 310 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Syndromic microphthalmia type 5
• Anophthalmia-microphthalmia syndrome
• OTX2-related disorder
• Anophthalmia
• Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.38

gnomAD pLI

0.92

gnomAD missense Z

1.05

DepMap mean gene effect

0.04

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• axon guidance
• dopaminergic neuron differentiation
• forebrain development
• midbrain development
• positive regulation of DNA-templated transcription
• positive regulation of embryonic development
• positive regulation of gastrulation
• positive regulation of transcription by RNA polymerase II
• primitive streak formation
• protein-containing complex assembly
• regulation of fibroblast growth factor receptor signaling pathway
• regulation of smoothened signaling pathway
• regulation of transcription by RNA polymerase II

Molecular functions

• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity, RNA polymerase II-specific
• eukaryotic initiation factor 4E binding
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• growth cone
• nucleus
• protein-containing complex

Protein domainsUniProt · Pfam · InterPro

• Homeodomain
• Transcription factor Otx
• Homedomain-like superfamily
• Transcription factor Otx, C-terminal
• Homeobox, conserved site
• Homeodomain
• Otx1 transcription factor
• Transcription factor Otx2

KeywordsUniProt

• Developmental protein
• DNA-binding
• Homeobox
• Microphthalmia
• Nucleus

InteractionsUniProt · HPA

Protein binding partners of OTX2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ATXN1