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Tbio
EYA4
Eyes absent homolog 4

Protein Summary
Description
Tyrosine phosphatase that specifically dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph). '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. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1. Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. May be involved in development of the eye (By similarity). This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator through its protein phosphatase activity, and it may be important for eye development, and for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant non-syndromic sensori ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000355167
  • ENSP00000347294
  • ENSG00000112319
  • ENST00000355286
  • ENSP00000347434
  • ENST00000367895
  • ENSP00000356870
  • ENST00000431403
  • ENSP00000404558
  • ENST00000452339
  • ENSP00000395916

Symbol
  • CMD1J
  • DFNA10
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
microRNA
0.89
PubMedID
0.71
small molecule perturbation
0.7
transcription factor
0.7
cell type or tissue
0.66


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 62.87   (req: < 5)
Gene RIFs: 37   (req: <= 3)
Antibodies: 203   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 62.87   (req: >= 5)
Gene RIFs: 37   (req: > 3)
Antibodies: 203   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 11
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (10)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
heel bone mineral density
3
7
11
98.4
glomerular filtration rate
5
3
4
6.2
86.1
BMI-adjusted waist-hip ratio
1
1
1
79.7
age-related hearing impairment
1
1
0
6.2
71
triglyceride measurement
2
2
2
60.7
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
heel bone mineral density
11
98.4
glomerular filtration rate
4
6.2
86.1
BMI-adjusted waist-hip ratio
1
79.7
age-related hearing impairment
0
6.2
71
triglyceride measurement
2
60.7
Pathways (4)
DNA Double Strand Break Response (R-HSA-5693606)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 4 of 4
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
DNA Double Strand Break Response
Reactome
DNA Double-Strand Break Repair
Reactome
DNA Repair
Reactome
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Name
Explore in Pharos
Explore in Source
DNA Double Strand Break Response
DNA Double-Strand Break Repair
DNA Repair
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Gene Ontology Terms (13)
Items per page:
10
1 – 2 of 2
GO Term
Evidence
Assigned by
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Protein-Protein Interactions (104)
1 – 10 of 104
SIX1
Tbio
Family: TF
Novelty: 0.00415613
p_int: 0.999999993
p_ni: 6e-9
Score: 0.906
Data Source: BioPlex,STRINGDB
SIX2
Tbio
Family: TF
Novelty: 0.01046481
p_int: 0.999999976
p_ni: 2.3e-8
Score: 0.845
Data Source: BioPlex,STRINGDB
PIP
Tbio
Novelty: 0.00208509
p_int: 0.99919759
p_ni: 0.000660359
p_wrong: 0.000142051
Data Source: BioPlex
PFDN2
Tbio
Novelty: 0.08537716
p_int: 0.97632557
p_ni: 0.006003616
p_wrong: 0.017670814
Score: 0.187
Data Source: BioPlex,STRINGDB
DACH1
Tbio
Novelty: 0.00986576
Score: 0.948
Data Source: STRINGDB
H2AFX
Tbio
Novelty: 0.00048694
Score: 0.912
Data Source: STRINGDB
MDC1
Tbio
Novelty: 0.00533097
Score: 0.907
Data Source: STRINGDB
EYA1
Tbio
Novelty: 0.00585286
Score: 0.907
Data Source: STRINGDB
ATM
Tchem
Family: Kinase
Novelty: 0.00019169
Score: 0.905
Data Source: STRINGDB
EYA3
Tbio
Novelty: 0.05588286
Score: 0.904
Data Source: STRINGDB
Publication Statistics
PubMed Score  62.87

PubMed score by year
PubTator Score  47.33

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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