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UniProtKB - O00167 (EYA2_HUMAN)

Entry version 196 (25 May 2022)
Sequence version 2 (02 May 2002)
Previous versions | rss
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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

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

More...SignaLinki		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

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

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000064655

<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

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

Genetic variation 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 168 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 (cervix)

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		108440, 122 interactors

Database of interacting proteins

More...DIPi		DIP-40707N

Protein interaction database and analysis system

More...IntActi		O00167, 72 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

AlphaFold Protein Structure Database

More...AlphaFoldDBi		O00167

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

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>Regioni209 – 263DisorderedSequence analysisAdd BLAST55

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 biasi209 – 232Polar residuesSequence analysisAdd BLAST24
Compositional biasi233 – 262Basic and acidic residuesSequence analysisAdd BLAST30

<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		HTQGYSV

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.<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 <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
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		ENST00000327619.10; ENSP00000333640.5; ENSG00000064655.19
ENST00000357410.7; ENSP00000349986.3; ENSG00000064655.19 [O00167-3]
ENST00000497062.6; ENSP00000417105.3; ENSG00000064655.19 [O00167-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2139

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2139

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

More...MANE-Selecti		ENST00000327619.10; ENSP00000333640.5; NM_005244.5; NP_005235.3

UCSC genome browser

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

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

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[»]
7F8GX-ray3.49A/B253-538[»]
7F8HX-ray3.30A/B/C253-538[»]
AlphaFoldDBiO00167
SMRiO00167
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi108440, 122 interactors
DIPiDIP-40707N
IntActiO00167, 72 interactors
MINTiO00167
STRINGi9606.ENSP00000333640

Chemistry databases

ChEMBLiCHEMBL1293275

PTM databases

DEPODiEYA2
iPTMnetiO00167
PhosphoSitePlusiO00167

Genetic variation 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, 268 antibodies from 29 providers

The DNASU plasmid repository

More...DNASUi		2139

Genome annotation databases

EnsembliENST00000327619.10; ENSP00000333640.5; ENSG00000064655.19
ENST00000357410.7; ENSP00000349986.3; ENSG00000064655.19 [O00167-3]
ENST00000497062.6; ENSP00000417105.3; ENSG00000064655.19 [O00167-2]
GeneIDi2139
KEGGihsa:2139
MANE-SelectiENST00000327619.10; ENSP00000333640.5; NM_005244.5; NP_005235.3
UCSCiuc002xsm.3, human [O00167-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2139
DisGeNETi2139

GeneCards: human genes, protein and diseases

More...GeneCardsi		EYA2
HGNCiHGNC:3520, EYA2
HPAiENSG00000064655, Tissue enhanced (cervix)
MIMi601654, gene
neXtProtiNX_O00167
OpenTargetsiENSG00000064655
PharmGKBiPA27932
VEuPathDBiHostDB:ENSG00000064655

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3107, Eukaryota
GeneTreeiENSGT00950000182978
HOGENOMiCLU_021184_2_0_1
InParanoidiO00167
OMAiHTQGYSV
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
SignaLinkiO00167

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		2139, 14 hits in 1075 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 168 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

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: May 25, 2022
This is version 196 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 chromosome 20
    Human chromosome 20: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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