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UniProtKB - P32243 (OTX2_HUMAN)

Entry version 205 (25 May 2022)
Sequence version 1 (01 Oct 1993)
Previous versions | rss
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Protein

Homeobox protein OTX2

Gene

OTX2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Transcription factor probably involved in the development of the brain and the sense organs. Can bind to the bicoid/BCD target sequence (BTS): 5'-TCTAATCCC-3'.

1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi38 – 97HomeoboxPROSITE-ProRule annotationAdd BLAST60

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein, DNA-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P32243

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P32243

SIGNOR Signaling Network Open Resource

More...SIGNORi		P32243

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

More...MoonDBi		P32243, Predicted

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Homeobox protein OTX2
Alternative name(s):
Orthodenticle homolog 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:OTX2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:8522, OTX2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600037, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P32243

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000165588

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Microphthalmia, syndromic, 5 (MCOPS5)4 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionPatients 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_02935489R → G in MCOPS5. 1 PublicationCorresponds to variant dbSNP:rs104894464Ensembl.1
Natural variantiVAR_06595290R → S in MCOPS5; does not affect the expression or nuclear localization of the protein but inhibits its DNA-binding activity as well as its transactivation capability; the protein is non-functional. 1 Publication1
Natural variantiVAR_029355133P → T in MCOPS5. 1 PublicationCorresponds to variant dbSNP:rs376333965Ensembl.1
Natural variantiVAR_029356134P → A in MCOPS5. 1 PublicationCorresponds to variant dbSNP:rs753783256Ensembl.1
Pituitary hormone deficiency, combined, 6 (CPHD6)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionCombined 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078446134P → R in CPHD6; unknown pathological significance; loss of transcriptional activity, when tested on bicoid binding sites; decreases transactivation mediated by the wild-type protein, when tested on bicoid binding sites; no effect on DNA-binding. 1 PublicationCorresponds to variant dbSNP:rs199761861Ensembl.1
Natural variantiVAR_065953225N → S in CPHD6; acts as a dominant inhibitor of the HESX1 gene. 1 PublicationCorresponds to variant dbSNP:rs370761964Ensembl.1
Retinal dystrophy, early-onset, with or without pituitary dysfunction (RDEOP)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn 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 Rathke's cleft cyst. Some patients manifest pituitary dysfunction.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07379379E → K in RDEOP. 1 PublicationCorresponds to variant dbSNP:rs786205224Ensembl.1

Keywords - Diseasei

Disease variant, Microphthalmia

Organism-specific databases

DisGeNET

More...DisGeNETi		5015

MalaCards human disease database

More...MalaCardsi		OTX2
MIMi610125, phenotype
613986, phenotype

Open Targets

More...OpenTargetsi		ENSG00000165588

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		990, Agnathia-holoprosencephaly-situs inversus syndrome
99001, Butterfly-shaped pigment dystrophy
98938, Colobomatous microphthalmia
95494, Combined pituitary hormone deficiencies, genetic forms
35612, Nanophthalmos
3157, Septo-optic dysplasia spectrum
178364, Syndromic microphthalmia type 5

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA32849

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P32243, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		OTX2

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000492101 – 289Homeobox protein OTX2Add BLAST289

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P32243

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P32243

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P32243

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P32243

PeptideAtlas

More...PeptideAtlasi		P32243

PRoteomics IDEntifications database

More...PRIDEi		P32243

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		54851 [P32243-1]
54852 [P32243-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		P32243, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P32243

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P32243

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

At Carnegie stage (CS) 14, widely expressed throughout the telencephalon and mesencephalon, with a sharp cutoff at the midbrain-hindbrain boundary. At CS16, found in the lamina terminalis and the floor of the telencephalon. At CS16-CS19, in the developing eye, strongly expressed in the retinal pigment epithelium layer and more weakly in the neural retina, not expressed in the optic nerve itself (at protein level). Retinal expression peaks between CS19 and CS21 and decline in older fetuses. At CS22, detected in the choroid plexus, the dorsal thalamus, and the roof of the mesencephalon. In the developing nasal structures, expressed in the olfactory epithelium of the nasal pits at CS18.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000165588, Expressed in pigmented layer of retina and 53 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P32243, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P32243, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000165588, Group enriched (choroid plexus, retina)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		111055, 66 interactors

Protein interaction database and analysis system

More...IntActi		P32243, 40 interactors

Molecular INTeraction database

More...MINTi		P32243

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000343819

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P32243, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		P32243

Biological Magnetic Resonance Data Bank

More...BMRBi		P32243

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P32243

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni93 – 143DisorderedSequence analysisAdd BLAST51

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi93 – 109Polar residuesSequence analysisAdd BLAST17
Compositional biasi120 – 143Polar residuesSequence analysisAdd BLAST24

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the paired homeobox family. Bicoid subfamily.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2251, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155014

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_064370_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P32243

Identification of Orthologs from Complete Genome Data

More...OMAi		KSPHYAM

Database of Orthologous Groups

More...OrthoDBi		935804at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P32243

TreeFam database of animal gene trees

More...TreeFami		TF351179

Family and domain databases

Conserved Domains Database

More...CDDi		cd00086, homeodomain, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR009057, Homeobox-like_sf
IPR017970, Homeobox_CS
IPR001356, Homeobox_dom
IPR003022, Otx2_TF
IPR003025, Otx_TF
IPR013851, Otx_TF_C

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00046, Homeodomain, 1 hit
PF03529, TF_Otx, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01257, OTX2HOMEOBOX
PR01255, OTXHOMEOBOX

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00389, HOX, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF46689, SSF46689, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00027, HOMEOBOX_1, 1 hit
PS50071, HOMEOBOX_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P32243-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MMSYLKQPPY AVNGLSLTTS GMDLLHPSVG YPATPRKQRR ERTTFTRAQL 
        60         70         80         90        100
DVLEALFAKT RYPDIFMREE VALKINLPES RVQVWFKNRR AKCRQQQQQQ 
       110        120        130        140        150
QNGGQNKVRP AKKKTSPARE VSSESGTSGQ FTPPSSTSVP TIASSSAPVS 
       160        170        180        190        200
IWSPASISPL SDPLSTSSSC MQRSYPMTYT QASGYSQGYA GSTSYFGGMD 
       210        220        230        240        250
CGSYLTPMHH QLPGPGATLS PMGTNAVTSH LNQSPASLST QGYGASSLGF 
       260        270        280 
NSTTDCLDYK DQTASWKLNF NADCLDYKDQ TSSWKFQVL
Length:289
Mass (Da):31,636
Last modified:October 1, 1993 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i66B86D5EAD6E2E7A
GO
Isoform 2 (identifier: P32243-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     32-32: P → PGPWASCPA

Show »
Length:297
Mass (Da):32,406
Checksum:iDB4A3AE99DDA6F6A
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V3P9G3V3P9_HUMAN
Homeobox protein OTX2
OTX2
238Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V3J3G3V3J3_HUMAN
Homeobox protein OTX2
OTX2
163Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A5F9ZHY1A0A5F9ZHY1_HUMAN
Homeobox protein OTX2
OTX2
168Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F1T0C9F1T0C9_HUMAN
Homeobox protein OTX2
OTX2
35Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07379379E → K in RDEOP. 1 PublicationCorresponds to variant dbSNP:rs786205224Ensembl.1
Natural variantiVAR_02935489R → G in MCOPS5. 1 PublicationCorresponds to variant dbSNP:rs104894464Ensembl.1
Natural variantiVAR_06595290R → S in MCOPS5; does not affect the expression or nuclear localization of the protein but inhibits its DNA-binding activity as well as its transactivation capability; the protein is non-functional. 1 Publication1
Natural variantiVAR_029355133P → T in MCOPS5. 1 PublicationCorresponds to variant dbSNP:rs376333965Ensembl.1
Natural variantiVAR_029356134P → A in MCOPS5. 1 PublicationCorresponds to variant dbSNP:rs753783256Ensembl.1
Natural variantiVAR_078446134P → R in CPHD6; unknown pathological significance; loss of transcriptional activity, when tested on bicoid binding sites; decreases transactivation mediated by the wild-type protein, when tested on bicoid binding sites; no effect on DNA-binding. 1 PublicationCorresponds to variant dbSNP:rs199761861Ensembl.1
Natural variantiVAR_065953225N → S in CPHD6; acts as a dominant inhibitor of the HESX1 gene. 1 PublicationCorresponds to variant dbSNP:rs370761964Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_02100632P → PGPWASCPA in isoform 2. 2 Publications1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF298117 Genomic DNA Translation: AAG16243.1
AF093138 mRNA Translation: AAD31385.1
AK314271 mRNA Translation: BAG36932.1
CH471061 Genomic DNA Translation: EAW80692.1
BC032579 mRNA Translation: AAH32579.1
AB037505 Genomic DNA Translation: BAA90425.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS41960.1 [P32243-1]
CCDS9728.1 [P32243-2]

NCBI Reference Sequences

More...RefSeqi		NP_001257452.1, NM_001270523.1 [P32243-1]
NP_001257453.1, NM_001270524.1 [P32243-1]
NP_001257454.1, NM_001270525.1 [P32243-2]
NP_068374.1, NM_021728.3 [P32243-2]
NP_758840.1, NM_172337.2 [P32243-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000339475.10; ENSP00000343819.5; ENSG00000165588.19
ENST00000408990.8; ENSP00000386185.3; ENSG00000165588.19
ENST00000554845.2; ENSP00000451357.2; ENSG00000165588.19 [P32243-2]
ENST00000555006.5; ENSP00000452336.1; ENSG00000165588.19
ENST00000555804.2; ENSP00000451272.2; ENSG00000165588.19
ENST00000672264.2; ENSP00000500115.1; ENSG00000165588.19 [P32243-2]
ENST00000673035.1; ENSP00000500061.1; ENSG00000165588.19
ENST00000673481.1; ENSP00000500595.1; ENSG00000165588.19 [P32243-2]
ENST00000685244.1; ENSP00000508798.1; ENSG00000165588.19

Database of genes from NCBI RefSeq genomes

More...GeneIDi		5015

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:5015

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000672264.2; ENSP00000500115.1; NM_021728.4; NP_068374.1 [P32243-2]

UCSC genome browser

More...UCSCi		uc001xcp.5, human [P32243-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF298117 Genomic DNA Translation: AAG16243.1
AF093138 mRNA Translation: AAD31385.1
AK314271 mRNA Translation: BAG36932.1
CH471061 Genomic DNA Translation: EAW80692.1
BC032579 mRNA Translation: AAH32579.1
AB037505 Genomic DNA Translation: BAA90425.1
CCDSiCCDS41960.1 [P32243-1]
CCDS9728.1 [P32243-2]
RefSeqiNP_001257452.1, NM_001270523.1 [P32243-1]
NP_001257453.1, NM_001270524.1 [P32243-1]
NP_001257454.1, NM_001270525.1 [P32243-2]
NP_068374.1, NM_021728.3 [P32243-2]
NP_758840.1, NM_172337.2 [P32243-1]

3D structure databases

AlphaFoldDBiP32243
BMRBiP32243
SMRiP32243
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi111055, 66 interactors
IntActiP32243, 40 interactors
MINTiP32243
STRINGi9606.ENSP00000343819

Protein family/group databases

MoonDBiP32243, Predicted

PTM databases

GlyGeniP32243, 1 site, 1 O-linked glycan (1 site)
iPTMnetiP32243
PhosphoSitePlusiP32243

Genetic variation databases

BioMutaiOTX2

Proteomic databases

EPDiP32243
jPOSTiP32243
MassIVEiP32243
PaxDbiP32243
PeptideAtlasiP32243
PRIDEiP32243
ProteomicsDBi54851 [P32243-1]
54852 [P32243-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		49, 427 antibodies from 38 providers

The DNASU plasmid repository

More...DNASUi		5015

Genome annotation databases

EnsembliENST00000339475.10; ENSP00000343819.5; ENSG00000165588.19
ENST00000408990.8; ENSP00000386185.3; ENSG00000165588.19
ENST00000554845.2; ENSP00000451357.2; ENSG00000165588.19 [P32243-2]
ENST00000555006.5; ENSP00000452336.1; ENSG00000165588.19
ENST00000555804.2; ENSP00000451272.2; ENSG00000165588.19
ENST00000672264.2; ENSP00000500115.1; ENSG00000165588.19 [P32243-2]
ENST00000673035.1; ENSP00000500061.1; ENSG00000165588.19
ENST00000673481.1; ENSP00000500595.1; ENSG00000165588.19 [P32243-2]
ENST00000685244.1; ENSP00000508798.1; ENSG00000165588.19
GeneIDi5015
KEGGihsa:5015
MANE-SelectiENST00000672264.2; ENSP00000500115.1; NM_021728.4; NP_068374.1 [P32243-2]
UCSCiuc001xcp.5, human [P32243-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		5015
DisGeNETi5015

GeneCards: human genes, protein and diseases

More...GeneCardsi		OTX2
HGNCiHGNC:8522, OTX2
HPAiENSG00000165588, Group enriched (choroid plexus, retina)
MalaCardsiOTX2
MIMi600037, gene
610125, phenotype
613986, phenotype
neXtProtiNX_P32243
OpenTargetsiENSG00000165588
Orphaneti990, Agnathia-holoprosencephaly-situs inversus syndrome
99001, Butterfly-shaped pigment dystrophy
98938, Colobomatous microphthalmia
95494, Combined pituitary hormone deficiencies, genetic forms
35612, Nanophthalmos
3157, Septo-optic dysplasia spectrum
178364, Syndromic microphthalmia type 5
PharmGKBiPA32849
VEuPathDBiHostDB:ENSG00000165588

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2251, Eukaryota
GeneTreeiENSGT00940000155014
HOGENOMiCLU_064370_0_0_1
InParanoidiP32243
OMAiKSPHYAM
OrthoDBi935804at2759
PhylomeDBiP32243
TreeFamiTF351179

Enzyme and pathway databases

PathwayCommonsiP32243
SignaLinkiP32243
SIGNORiP32243

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		5015, 21 hits in 1092 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Orthodenticle_homeobox_2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		5015
PharosiP32243, Tbio

Protein Ontology

More...PROi		PR:P32243
RNActiP32243, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000165588, Expressed in pigmented layer of retina and 53 other tissues
ExpressionAtlasiP32243, baseline and differential
GenevisibleiP32243, HS

Family and domain databases

CDDicd00086, homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057, Homeobox-like_sf
IPR017970, Homeobox_CS
IPR001356, Homeobox_dom
IPR003022, Otx2_TF
IPR003025, Otx_TF
IPR013851, Otx_TF_C
PfamiView protein in Pfam
PF00046, Homeodomain, 1 hit
PF03529, TF_Otx, 1 hit
PRINTSiPR01257, OTX2HOMEOBOX
PR01255, OTXHOMEOBOX
SMARTiView protein in SMART
SM00389, HOX, 1 hit
SUPFAMiSSF46689, SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027, HOMEOBOX_1, 1 hit
PS50071, HOMEOBOX_2, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiOTX2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P32243
Secondary accession number(s): B2RAN5
, Q6GTV3, Q9HAW3, Q9P2R1
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1993
Last sequence update: October 1, 1993
Last modified: May 25, 2022
This is version 205 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
UniProt is an ELIXIR core data resource
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