Details for: EYA3

Gene ID: 2140

Symbol: EYA3

Ensembl ID: ENSG00000158161

Description: EYA transcriptional coactivator and phosphatase 3

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 234.6584
    Cell Significance Index: -36.5000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 146.2289
    Cell Significance Index: -37.0900
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 79.5063
    Cell Significance Index: -32.3000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 33.8311
    Cell Significance Index: -32.3000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 30.9743
    Cell Significance Index: -38.1900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 13.4722
    Cell Significance Index: -36.0900
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 10.6918
    Cell Significance Index: -23.4000
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 9.8878
    Cell Significance Index: -30.3700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 9.7490
    Cell Significance Index: -38.4700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.8821
    Cell Significance Index: 377.5400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.3739
    Cell Significance Index: 272.6500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.3725
    Cell Significance Index: 35.2800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.3661
    Cell Significance Index: 104.8400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.3389
    Cell Significance Index: 132.4500
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.1404
    Cell Significance Index: 24.9700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.1236
    Cell Significance Index: 1014.5000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.1223
    Cell Significance Index: 402.5500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.0247
    Cell Significance Index: 13.9800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.9787
    Cell Significance Index: 27.3500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.9634
    Cell Significance Index: 54.0600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.8046
    Cell Significance Index: 35.5900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.7814
    Cell Significance Index: 29.5900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.6904
    Cell Significance Index: 477.4800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.6765
    Cell Significance Index: 45.4900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6738
    Cell Significance Index: 109.5800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.6460
    Cell Significance Index: 39.7100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.5283
    Cell Significance Index: 10.3100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5024
    Cell Significance Index: 30.1600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3969
    Cell Significance Index: 75.5300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.3684
    Cell Significance Index: 43.4400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2992
    Cell Significance Index: 36.8000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2742
    Cell Significance Index: 5.9400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2619
    Cell Significance Index: 47.2200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2572
    Cell Significance Index: 17.7900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2171
    Cell Significance Index: 9.8400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.1860
    Cell Significance Index: 4.4600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1665
    Cell Significance Index: 90.9200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1187
    Cell Significance Index: 223.4300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1176
    Cell Significance Index: 51.9800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1010
    Cell Significance Index: 1.7300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0997
    Cell Significance Index: 13.6900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0666
    Cell Significance Index: 42.3000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0642
    Cell Significance Index: 118.4200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0609
    Cell Significance Index: 93.7500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0604
    Cell Significance Index: 27.4300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0223
    Cell Significance Index: 30.3800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0028
    Cell Significance Index: 0.1000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0004
    Cell Significance Index: -0.0100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0194
    Cell Significance Index: -1.0100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0252
    Cell Significance Index: -0.6800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0339
    Cell Significance Index: -24.8500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0400
    Cell Significance Index: -29.6400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0404
    Cell Significance Index: -5.8700
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.0409
    Cell Significance Index: -0.8800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0410
    Cell Significance Index: -31.0100
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0411
    Cell Significance Index: -0.4900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0417
    Cell Significance Index: -2.6300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0594
    Cell Significance Index: -33.4800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0655
    Cell Significance Index: -11.1800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0663
    Cell Significance Index: -3.4500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0681
    Cell Significance Index: -42.5200
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.0782
    Cell Significance Index: -1.1300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0832
    Cell Significance Index: -10.6700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1027
    Cell Significance Index: -2.9300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1032
    Cell Significance Index: -4.8500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.1038
    Cell Significance Index: -2.9900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1114
    Cell Significance Index: -32.0700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1453
    Cell Significance Index: -16.9300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1502
    Cell Significance Index: -17.2100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1552
    Cell Significance Index: -15.8500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1553
    Cell Significance Index: -20.0600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1724
    Cell Significance Index: -8.0400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1905
    Cell Significance Index: -40.1300
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.2171
    Cell Significance Index: -3.2100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2176
    Cell Significance Index: -22.6600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2288
    Cell Significance Index: -17.0500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.2385
    Cell Significance Index: -5.0800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2682
    Cell Significance Index: -18.9700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2972
    Cell Significance Index: -9.5200
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.3096
    Cell Significance Index: -3.8400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.3116
    Cell Significance Index: -7.7900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.3241
    Cell Significance Index: -20.9100
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.4197
    Cell Significance Index: -10.2400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4203
    Cell Significance Index: -33.2900
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.4349
    Cell Significance Index: -6.2500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.4361
    Cell Significance Index: -22.9000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.4765
    Cell Significance Index: -12.9700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.5085
    Cell Significance Index: -8.5100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.5423
    Cell Significance Index: -18.8500
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.5529
    Cell Significance Index: -17.6100
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.5790
    Cell Significance Index: -7.2200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.6148
    Cell Significance Index: -37.6900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.6318
    Cell Significance Index: -20.6900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.6434
    Cell Significance Index: -18.9500
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.7200
    Cell Significance Index: -10.2500
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.7216
    Cell Significance Index: -4.3600
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.7328
    Cell Significance Index: -14.4900
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.7374
    Cell Significance Index: -15.6500
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.7696
    Cell Significance Index: -15.4500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.7838
    Cell Significance Index: -23.0200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** EYA3 is a transcriptional coactivator and phosphatase, meaning it can both activate and regulate gene expression by interacting with transcription factors and other proteins. Its phosphatase activity is particularly notable, as it can dephosphorylate histone H2A.X, which is a critical step in DNA double-strand break repair. EYA3's ability to bind metal ions and regulate protein tyrosine phosphatase activity further underscores its multifaceted role in cellular processes. Its expression in various cell types, including neurons and cardiac myocytes, highlights its importance in maintaining tissue-specific functions. **Pathways and Functions** EYA3 is involved in several key pathways, including: 1. **Anatomical structure development and morphogenesis**: EYA3 plays a crucial role in regulating gene expression involved in the development and patterning of tissues and organs. 2. **DNA double-strand break repair**: EYA3's phosphatase activity is essential for the recruitment and activation of DNA repair proteins in response to DNA damage. 3. **Histone H2A.X dephosphorylation**: EYA3's ability to dephosphorylate histone H2A.X is critical for the activation of the nucleosome remodeling and histone deacetylase (NuRD) complex, which regulates gene expression. 4. **Visual perception**: EYA3 is expressed in photoreceptors and is thought to play a role in regulating gene expression involved in visual development and function. **Clinical Significance** EYA3 mutations have been associated with several human disorders, including: 1. **Eye disorders**: Mutations in EYA3 have been linked to eye abnormalities, including microphthalmia and anophthalmia. 2. **Neurological disorders**: EYA3 mutations have been associated with neurological disorders, including autism spectrum disorder and intellectual disability. 3. **Cancer**: EYA3's role in DNA repair and gene regulation makes it a potential target for cancer therapy. 4. **Cardiovascular disease**: EYA3's expression in cardiac myocytes and its role in regulating gene expression involved in cardiac development and function make it a potential target for cardiovascular disease therapy. In conclusion, EYA3 is a multifaceted gene that plays a critical role in various developmental and cellular processes. Its involvement in anatomical structure development, DNA double-strand break repair, and visual perception highlights its importance in maintaining tissue homeostasis and organogenesis. Further research is needed to fully elucidate EYA3's role in human disease and to explore its potential as a therapeutic target.

Genular Protein ID: 3454023124

Symbol: EYA3_HUMAN

Name: Eyes absent homolog 3

UniProtKB Accession Codes:

Q99504 A8K190 B4DIR7 B4DNZ7 O95463 Q8IVX7 Q99813

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 4 CDD 1 CTD 1 ChEBI 8 ChEMBL 1 ChiTaRS 1 DEPOD 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugCentral 1 EC 1 EMBL 11 Ensembl 4 ExpressionAtlas 1 GO 14 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 5 Pumba 1 RNAct 1 Reactome 1 RefSeq 4 Rhea 3 SABIO-RK 1 SFLD 2 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9020840

Title: A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family.

PubMed ID: 9020840

DOI: 10.1038/ng0297-157

PubMed ID: 9049631

Title: Cloning and characterization of two vertebrate homologs of the Drosophila eyes absent gene.

PubMed ID: 9049631

DOI: 10.1101/gr.7.2.128

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9887327

Title: EYA4, a novel vertebrate gene related to Drosophila eyes absent.

PubMed ID: 9887327

DOI: 10.1093/hmg/8.1.11

PubMed ID: 17525332

Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.

PubMed ID: 17525332

DOI: 10.1126/science.1140321

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19351884

Title: Dephosphorylation of the C-terminal tyrosyl residue of the DNA damage-related histone H2A.X is mediated by the protein phosphatase eyes absent.

PubMed ID: 19351884

DOI: 10.1074/jbc.c900032200

PubMed ID: 19234442

Title: Tyrosine dephosphorylation of H2AX modulates apoptosis and survival decisions.

PubMed ID: 19234442

DOI: 10.1038/nature07849

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

Sequence Information:

  • Length: 573
  • Mass: 62663
  • Checksum: 684B961B1E630371
  • Sequence:
    • MEEEQDLPEQ PVKKAKMQES GEQTISQVSN PDVSDQKPET SSLASNLPMS EEIMTCTDYI 
PRSSNDYTSQ MYSAKPYAHI LSVPVSETAY PGQTQYQTLQ QTQPYAVYPQ ATQTYGLPPF 
GALWPGMKPE SGLIQTPSPS QHSVLTCTTG LTTSQPSPAH YSYPIQASST NASLISTSST 
IANIPAAAVA SISNQDYPTY TILGQNQYQA CYPSSSFGVT GQTNSDAEST TLAATTYQSE 
KPSVMAPAPA AQRLSSGDPS TSPSLSQTTP SKDTDDQSRK NMTSKNRGKR KADATSSQDS 
ELERVFLWDL DETIIIFHSL LTGSYAQKYG KDPTVVIGSG LTMEEMIFEV ADTHLFFNDL 
EECDQVHVED VASDDNGQDL SNYSFSTDGF SGSGGSGSHG SSVGVQGGVD WMRKLAFRYR 
KVREIYDKHK SNVGGLLSPQ RKEALQRLRA EIEVLTDSWL GTALKSLLLI QSRKNCVNVL 
ITTTQLVPAL AKVLLYGLGE IFPIENIYSA TKIGKESCFE RIVSRFGKKV TYVVIGDGRD 
EEIAAKQHNM PFWRITNHGD LVSLHQALEL DFL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.