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UniProtKB - O00167 (EYA2_HUMAN)

Entry version 190 (02 Dec 2020)
Sequence version 2 (02 May 2002)
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Protein

Eyes absent homolog 2

Gene

EYA2

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

Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (PubMed:12500905, PubMed:23435380). Tyrosine phosphatase that dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress (PubMed:19351884). Its function as histone phosphatase may contribute to its function in transcription regulation during organogenesis. Plays an important role in hypaxial muscle development together with SIX1 and DACH2; in this it is functionally redundant with EYA1 (PubMed:12500905).4 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mg2+1 PublicationNote: Binds 1 Mg2+ ion per subunit.1 Publication

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=1.9 µM for H2AXY142ph1 Publication
  2. KM=80 µM for H2AXS139ph1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei274Nucleophile1 Publication1
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi274Magnesium1 Publication1
    Active sitei276Proton donor1 Publication1
    Metal bindingi276Magnesium; via carbonyl oxygen1 Publication1
    Metal bindingi502Magnesium1 Publication1

    <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 functionActivator, Chromatin regulator, Developmental protein, Hydrolase, Protein phosphatase
    Biological processDNA damage, DNA repair, Transcription, Transcription regulation
    LigandMagnesium, Metal-binding

    Enzyme and pathway databases

    BRENDA Comprehensive Enzyme Information System

    More...    BRENDAi    		3.1.3.48, 2681

    Pathway Commons web resource for biological pathway data

    More...    PathwayCommonsi    		O00167

    Reactome - a knowledgebase of biological pathways and processes

    More...    Reactomei    		R-HSA-5693565, Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks

    SABIO-RK: Biochemical Reaction Kinetics Database

    More...    SABIO-RKi    		O00167

    <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:
    Eyes absent homolog 2 (EC:3.1.3.481 Publication)
    <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:EYA2
    Synonyms:EAB1
    <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 20

    Organism-specific databases

    Eukaryotic Pathogen and Host Database Resources

    More...    EuPathDBi    		HostDB:ENSG00000064655.18

    Human Gene Nomenclature Database

    More...    HGNCi    		HGNC:3520, EYA2

    Online Mendelian Inheritance in Man (OMIM)

    More...    MIMi    		601654, gene

    neXtProt; the human protein knowledge platform

    More...    neXtProti    		NX_O00167

    <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

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

    Keywords - Cellular componenti

    Cytoplasm, 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

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi516P → R: Strongly reduces SIX1 binding. 1 Publication1
    Mutagenesisi532A → R: Abolishes interaction with SIX1. 1 Publication1

    Organism-specific databases

    DisGeNET

    More...    DisGeNETi    		2139

    Open Targets

    More...    OpenTargetsi    		ENSG00000064655

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...    PharmGKBi    		PA27932

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...    Pharosi    		O00167, Tbio

    Chemistry databases

    ChEMBL database of bioactive drug-like small molecules

    More...    ChEMBLi    		CHEMBL1293275

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...    BioMutai    		EYA2

    <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_00002186461 – 538Eyes absent homolog 2Add BLAST538

    Proteomic databases

    jPOST - Japan Proteome Standard Repository/Database

    More...    jPOSTi    		O00167

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...    MassIVEi    		O00167

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

    More...    PaxDbi    		O00167

    PeptideAtlas

    More...    PeptideAtlasi    		O00167

    PRoteomics IDEntifications database

    More...    PRIDEi    		O00167

    ProteomicsDB: a multi-organism proteome resource

    More...    ProteomicsDBi    		47756 [O00167-1]
    47757 [O00167-2]
    47758 [O00167-3]

    PTM databases

    DEPOD human dephosphorylation database

    More...    DEPODi    		EYA2

    iPTMnet integrated resource for PTMs in systems biology context

    More...    iPTMneti    		O00167

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

    More...    PhosphoSitePlusi    		O00167

    <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 a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

    Highest expression in muscle with lower levels in kidney, placenta, pancreas, brain and heart.1 Publication

    <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 the begin of fourth week of development detected in cytoplasm of somite cells. Between the sixth and eighth week of development detected in cytoplasm of limb bud cells.1 Publication

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...    Bgeei    		ENSG00000064655, Expressed in calcaneal tendon and 167 other tissues

    ExpressionAtlas, Differential and Baseline Expression

    More...    ExpressionAtlasi    		O00167, baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...    Genevisiblei    		O00167, HS

    Organism-specific databases

    Human Protein Atlas

    More...    HPAi    		ENSG00000064655, Tissue enhanced (enhanced)

    <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 the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

    Interacts with DACH2 and SIX1, and probably with SIX2, SIX4 and SIX5.

    Interacts with CAPN8 (By similarity).

    Interacts with GNAZ and GNAI2; this precludes interaction with SIX1.

    By similarity5 Publications

    <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    		108440, 119 interactors

    Database of interacting proteins

    More...    DIPi    		DIP-40707N

    Protein interaction database and analysis system

    More...    IntActi    		O00167, 40 interactors

    Molecular INTeraction database

    More...    MINTi    		O00167

    STRING: functional protein association networks

    More...    STRINGi    		9606.ENSP00000333640

    Miscellaneous databases

    RNAct, Protein-RNA interaction predictions for model organisms.

    More...    RNActi    		O00167, 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

    Secondary structure

    1538
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

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

    More...    SMRi    		O00167

    Database of comparative protein structure models

    More...    ModBasei    		Search...

    Protein Data Bank in Europe - Knowledge Base

    More...    PDBe-KBi    		Search...

    Miscellaneous databases

    Relative evolutionary importance of amino acids within a protein sequence

    More...    EvolutionaryTracei    		O00167

    <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

    <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 HAD-like hydrolase superfamily. EYA family.Curated

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...    eggNOGi    		KOG3107, Eukaryota

    Ensembl GeneTree

    More...    GeneTreei    		ENSGT00950000182978

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...    HOGENOMi    		CLU_021184_2_0_1

    InParanoid: Eukaryotic Ortholog Groups

    More...    InParanoidi    		O00167

    Identification of Orthologs from Complete Genome Data

    More...    OMAi    		YNSPYMS

    Database of Orthologous Groups

    More...    OrthoDBi    		1030296at2759

    Database for complete collections of gene phylogenies

    More...    PhylomeDBi    		O00167

    TreeFam database of animal gene trees

    More...    TreeFami    		TF319337

    Family and domain databases

    Conserved Domains Database

    More...    CDDi    		cd02601, HAD_Eya, 1 hit

    Gene3D Structural and Functional Annotation of Protein Families

    More...    Gene3Di    		3.40.50.12350, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...    InterProi    		View protein in InterPro
    IPR028473, EYA2
    IPR006545, EYA_dom
    IPR042577, EYA_dom_metazoan
    IPR038102, EYA_dom_sf
    IPR028472, EYA_fam
    IPR036412, HAD-like_sf

    The PANTHER Classification System

    More...    PANTHERi    		PTHR10190, PTHR10190, 1 hit
    PTHR10190:SF7, PTHR10190:SF7, 1 hit

    Superfamily database of structural and functional annotation

    More...    SUPFAMi    		SSF56784, SSF56784, 1 hit

    TIGRFAMs; a protein family database

    More...    TIGRFAMsi    		TIGR01658, EYA-cons_domain, 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 (3+)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 3 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
    Note: Experimental confirmation may be lacking for some isoforms.

    This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: O00167-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><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
    MVELVISPSL TVNSDCLDKL KFNRADAAVW TLSDRQGITK SAPLRVSQLF 
            60         70         80         90        100
    SRSCPRVLPR QPSTAMAAYG QTQYSAGIQQ ATPYTAYPPP AQAYGIPSYS 
           110        120        130        140        150
    IKTEDSLNHS PGQSGFLSYG SSFSTSPTGQ SPYTYQMHGT TGFYQGGNGL 
           160        170        180        190        200
    GNAAGFGSVH QDYPSYPGFP QSQYPQYYGS SYNPPYVPAS SICPSPLSTS 
           210        220        230        240        250
    TYVLQEASHN VPNQSSESLA GEYNTHNGPS TPAKEGDTDR PHRASDGKLR 
           260        270        280        290        300
    GRSKRSSDPS PAGDNEIERV FVWDLDETII IFHSLLTGTF ASRYGKDTTT 
           310        320        330        340        350
    SVRIGLMMEE MIFNLADTHL FFNDLEDCDQ IHVDDVSSDD NGQDLSTYNF 
           360        370        380        390        400
    SADGFHSSAP GANLCLGSGV HGGVDWMRKL AFRYRRVKEM YNTYKNNVGG 
           410        420        430        440        450
    LIGTPKRETW LQLRAELEAL TDLWLTHSLK ALNLINSRPN CVNVLVTTTQ 
           460        470        480        490        500
    LIPALAKVLL YGLGSVFPIE NIYSATKTGK ESCFERIMQR FGRKAVYVVI 
           510        520        530 
    GDGVEEEQGA KKHNMPFWRI SCHADLEALR HALELEYL
    Length:538
    Mass (Da):59,232
    Last modified:May 2, 2002 - v2
    <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:i3DBFC31D8BE1E85D
    GO
    Isoform 2 (identifier: O00167-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         99-122: Missing.

    Show »
    Length:514
    Mass (Da):56,688
    Checksum:i970E63DB345E484A
    GO
    Isoform 3 (identifier: O00167-3) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         401-479: Missing.

    Show »
    Length:459
    Mass (Da):50,533
    Checksum:i774885A6F04CA6B2
    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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    		Gene namesLengthAnnotation
    E7ETN2E7ETN2_HUMAN
    Eyes absent homolog
    EYA2
    		508Annotation score:

    Annotation score:3 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>
    B1AKW3B1AKW3_HUMAN
    Eyes absent homolog
    EYA2
    		197Annotation 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>

    <p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

    The sequence AAH13882 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti296K → E in AAB42065 (PubMed:9049631).Curated1
    Sequence conflicti361G → A in AAP35328 (Ref. 4) Curated1
    Sequence conflicti361G → A in AAH08803 (PubMed:15489334).Curated1
    Sequence conflicti381A → S in AAB42065 (PubMed:9049631).Curated1
    Sequence conflicti419A → V in CAA07815 (PubMed:9887327).Curated1
    Sequence conflicti525D → N in AAB51120 (PubMed:9195991).Curated1

    Natural variant

    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_04896483P → S. Corresponds to variant dbSNP:rs2275596Ensembl.1
    Natural variantiVAR_048965238T → A. Corresponds to variant dbSNP:rs866936EnsemblClinVar.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_00149099 – 122Missing in isoform 2. 2 PublicationsAdd BLAST24
    Alternative sequenceiVSP_001491401 – 479Missing in isoform 3. 1 PublicationAdd BLAST79

    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
    		U71207 mRNA Translation: AAB51120.1
    Y10261 Genomic DNA Translation: CAA71310.1
    BT006682 mRNA Translation: AAP35328.1
    AL049540 AL022342 Genomic DNA Translation: CAI23166.1
    BC000289 mRNA Translation: AAH00289.2
    BC008803 mRNA Translation: AAH08803.1
    BC013882 mRNA Translation: AAH13882.2 Different initiation.
    U81601 mRNA Translation: AAB42065.1
    AJ007992 mRNA Translation: CAA07815.1

    The Consensus CDS (CCDS) project

    More...    CCDSi    		CCDS13403.1 [O00167-1]
    CCDS54471.1 [O00167-3]

    NCBI Reference Sequences

    More...    RefSeqi    		NP_005235.3, NM_005244.4 [O00167-1]
    NP_742108.2, NM_172110.3 [O00167-3]

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...    Ensembli    		ENST00000327619; ENSP00000333640; ENSG00000064655 [O00167-1]
    ENST00000357410; ENSP00000349986; ENSG00000064655 [O00167-3]
    ENST00000497062; ENSP00000417105; ENSG00000064655 [O00167-2]

    Database of genes from NCBI RefSeq genomes

    More...    GeneIDi    		2139

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...    KEGGi    		hsa:2139

    UCSC genome browser

    More...    UCSCi    		uc002xsm.3, human [O00167-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    <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

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    		U71207 mRNA Translation: AAB51120.1
    Y10261 Genomic DNA Translation: CAA71310.1
    BT006682 mRNA Translation: AAP35328.1
    AL049540 AL022342 Genomic DNA Translation: CAI23166.1
    BC000289 mRNA Translation: AAH00289.2
    BC008803 mRNA Translation: AAH08803.1
    BC013882 mRNA Translation: AAH13882.2 Different initiation.
    U81601 mRNA Translation: AAB42065.1
    AJ007992 mRNA Translation: CAA07815.1
    CCDSiCCDS13403.1 [O00167-1]
    CCDS54471.1 [O00167-3]
    RefSeqiNP_005235.3, NM_005244.4 [O00167-1]
    NP_742108.2, NM_172110.3 [O00167-3]

    3D structure databases

    Select the link destinations:

    Protein Data Bank Europe

    More...    PDBei

    Protein Data Bank RCSB

    More...    RCSB PDBi

    Protein Data Bank Japan

    More...    PDBji
    Links Updated
    		PDB entryMethodResolution (Å)ChainPositionsPDBsum
    3GEBX-ray2.40A/B/C/D268-538[»]
    3HB0X-ray2.50A/B/C/D268-538[»]
    3HB1X-ray2.51A/B/C/D268-538[»]
    4EGCX-ray1.99B253-538[»]
    5ZMAX-ray3.17A/B/C253-538[»]
    SMRiO00167
    ModBaseiSearch...
    PDBe-KBiSearch...

    Protein-protein interaction databases

    BioGRIDi108440, 119 interactors
    DIPiDIP-40707N
    IntActiO00167, 40 interactors
    MINTiO00167
    STRINGi9606.ENSP00000333640

    Chemistry databases

    ChEMBLiCHEMBL1293275

    PTM databases

    DEPODiEYA2
    iPTMnetiO00167
    PhosphoSitePlusiO00167

    Polymorphism and mutation databases

    BioMutaiEYA2

    Proteomic databases

    jPOSTiO00167
    MassIVEiO00167
    PaxDbiO00167
    PeptideAtlasiO00167
    PRIDEiO00167
    ProteomicsDBi47756 [O00167-1]
    47757 [O00167-2]
    47758 [O00167-3]

    Protocols and materials databases

    Antibodypedia a portal for validated antibodies

    More...    Antibodypediai    		13258, 256 antibodies

    The DNASU plasmid repository

    More...    DNASUi    		2139

    Genome annotation databases

    EnsembliENST00000327619; ENSP00000333640; ENSG00000064655 [O00167-1]
    ENST00000357410; ENSP00000349986; ENSG00000064655 [O00167-3]
    ENST00000497062; ENSP00000417105; ENSG00000064655 [O00167-2]
    GeneIDi2139
    KEGGihsa:2139
    UCSCiuc002xsm.3, human [O00167-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...    CTDi    		2139
    DisGeNETi2139
    EuPathDBiHostDB:ENSG00000064655.18

    GeneCards: human genes, protein and diseases

    More...    GeneCardsi    		EYA2
    HGNCiHGNC:3520, EYA2
    HPAiENSG00000064655, Tissue enhanced (enhanced)
    MIMi601654, gene
    neXtProtiNX_O00167
    OpenTargetsiENSG00000064655
    PharmGKBiPA27932

    GenAtlas: human gene database

    More...    GenAtlasi    		Search...

    Phylogenomic databases

    eggNOGiKOG3107, Eukaryota
    GeneTreeiENSGT00950000182978
    HOGENOMiCLU_021184_2_0_1
    InParanoidiO00167
    OMAiYNSPYMS
    OrthoDBi1030296at2759
    PhylomeDBiO00167
    TreeFamiTF319337

    Enzyme and pathway databases

    BRENDAi3.1.3.48, 2681
    PathwayCommonsiO00167
    ReactomeiR-HSA-5693565, Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
    SABIO-RKiO00167

    Miscellaneous databases

    BioGRID ORCS database of CRISPR phenotype screens

    More...    BioGRID-ORCSi    		2139, 3 hits in 848 CRISPR screens

    ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

    More...    ChiTaRSi    		EYA2, human
    EvolutionaryTraceiO00167

    The Gene Wiki collection of pages on human genes and proteins

    More...    GeneWikii    		EYA2

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

    More...    GenomeRNAii    		2139
    PharosiO00167, Tbio

    Protein Ontology

    More...    PROi    		PR:O00167
    RNActiO00167, protein

    The Stanford Online Universal Resource for Clones and ESTs

    More...    SOURCEi    		Search...

    Gene expression databases

    BgeeiENSG00000064655, Expressed in calcaneal tendon and 167 other tissues
    ExpressionAtlasiO00167, baseline and differential
    GenevisibleiO00167, HS

    Family and domain databases

    CDDicd02601, HAD_Eya, 1 hit
    Gene3Di3.40.50.12350, 1 hit
    InterProiView protein in InterPro
    IPR028473, EYA2
    IPR006545, EYA_dom
    IPR042577, EYA_dom_metazoan
    IPR038102, EYA_dom_sf
    IPR028472, EYA_fam
    IPR036412, HAD-like_sf
    PANTHERiPTHR10190, PTHR10190, 1 hit
    PTHR10190:SF7, PTHR10190:SF7, 1 hit
    SUPFAMiSSF56784, SSF56784, 1 hit
    TIGRFAMsiTIGR01658, EYA-cons_domain, 1 hit

    ProtoNet; Automatic hierarchical classification of proteins

    More...    ProtoNeti    		Search...

    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 nameiEYA2_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: O00167
    Secondary accession number(s): Q5JSW8
    , Q86U84, Q96CV6, Q96H97, Q99503, Q99812, Q9BWF6, Q9H4S3, Q9H4S9, Q9NPZ4, Q9UIX7
    <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: July 15, 1998
    Last sequence update: May 2, 2002
    Last modified: December 2, 2020
    This is version 190 of the entry and version 2 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

    3D-structure, Reference proteome

    Documents

    1. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    4. SIMILARITY comments
      Index of protein domains and families
    5. Human chromosome 20
      Human chromosome 20: entries, gene names and cross-references to MIM
    6. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
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