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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Enzymes Human disease related genes Potential drug targets
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
8
Cytoband
q13.3
Chromosome location (bp)
71197433 - 71592025
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (By similarity). 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 1. Its function as histone phosphatase may contribute to its function in transcription regulation during organogenesis (By similarity). Has also phosphatase activity with proteins phosphorylated on Ser and Thr residues (in vitro) (By similarity). Required for normal embryonic development of the craniofacial and trunk skeleton, kidneys and ears (By similarity). Together with SIX1, it plays an important role in hypaxial muscle development; in this it is functionally redundant with EYA2 (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, Chromatin regulator, Developmental protein, Hydrolase, Protein phosphatase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
DNA damage, DNA repair, Transcription, Transcription regulation
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Magnesium, Metal-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Hydrolases MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0001656[metanephros development] GO:0001657[ureteric bud development] GO:0001658[branching involved in ureteric bud morphogenesis] GO:0003151[outflow tract morphogenesis] GO:0003723[RNA binding] GO:0004721[phosphoprotein phosphatase activity] GO:0004722[protein serine/threonine phosphatase activity] GO:0004725[protein tyrosine phosphatase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006281[DNA repair] GO:0006302[double-strand break repair] GO:0006325[chromatin organization] GO:0006470[protein dephosphorylation] GO:0006974[cellular response to DNA damage stimulus] GO:0007275[multicellular organism development] GO:0007389[pattern specification process] GO:0007501[mesodermal cell fate specification] GO:0007605[sensory perception of sound] GO:0009653[anatomical structure morphogenesis] GO:0009887[animal organ morphogenesis] GO:0010212[response to ionizing radiation] GO:0014706[striated muscle tissue development] GO:0016570[histone modification] GO:0016604[nuclear body] GO:0016787[hydrolase activity] GO:0016925[protein sumoylation] GO:0017018[myosin phosphatase activity] GO:0030154[cell differentiation] GO:0032991[protein-containing complex] GO:0032993[protein-DNA complex] GO:0035335[peptidyl-tyrosine dephosphorylation] GO:0035909[aorta morphogenesis] GO:0042471[ear morphogenesis] GO:0042472[inner ear morphogenesis] GO:0042473[outer ear morphogenesis] GO:0042474[middle ear morphogenesis] GO:0045165[cell fate commitment] GO:0045664[regulation of neuron differentiation] GO:0045739[positive regulation of DNA repair] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0048665[neuron fate specification] GO:0048704[embryonic skeletal system morphogenesis] GO:0048752[semicircular canal morphogenesis] GO:0048856[anatomical structure development] GO:0050673[epithelial cell proliferation] GO:0050679[positive regulation of epithelial cell proliferation] GO:0060037[pharyngeal system development] GO:0071599[otic vesicle development] GO:0071600[otic vesicle morphogenesis] GO:0072513[positive regulation of secondary heart field cardioblast proliferation] GO:0090103[cochlea morphogenesis] GO:0097192[extrinsic apoptotic signaling pathway in absence of ligand] GO:0140793[histone tyrosine phosphatase activity (H2-Y142 specific)] GO:2001240[negative regulation of extrinsic apoptotic signaling pathway in absence of ligand]
Enzymes ENZYME proteins Hydrolases MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0004721[phosphoprotein phosphatase activity] GO:0004722[protein serine/threonine phosphatase activity] GO:0004725[protein tyrosine phosphatase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006281[DNA repair] GO:0006302[double-strand break repair] GO:0006325[chromatin organization] GO:0006974[cellular response to DNA damage stimulus] GO:0007275[multicellular organism development] GO:0007605[sensory perception of sound] GO:0009653[anatomical structure morphogenesis] GO:0009887[animal organ morphogenesis] GO:0010212[response to ionizing radiation] GO:0016570[histone modification] GO:0016604[nuclear body] GO:0016787[hydrolase activity] GO:0016925[protein sumoylation] GO:0017018[myosin phosphatase activity] GO:0030154[cell differentiation] GO:0035335[peptidyl-tyrosine dephosphorylation] GO:0042471[ear morphogenesis] GO:0045739[positive regulation of DNA repair] GO:0046872[metal ion binding] GO:0048856[anatomical structure development] GO:0140793[histone tyrosine phosphatase activity (H2-Y142 specific)] GO:2001240[negative regulation of extrinsic apoptotic signaling pathway in absence of ligand]
Enzymes ENZYME proteins Hydrolases MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0004721[phosphoprotein phosphatase activity] GO:0004722[protein serine/threonine phosphatase activity] GO:0004725[protein tyrosine phosphatase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006281[DNA repair] GO:0006302[double-strand break repair] GO:0006325[chromatin organization] GO:0006974[cellular response to DNA damage stimulus] GO:0007275[multicellular organism development] GO:0007605[sensory perception of sound] GO:0009653[anatomical structure morphogenesis] GO:0009887[animal organ morphogenesis] GO:0010212[response to ionizing radiation] GO:0016570[histone modification] GO:0016604[nuclear body] GO:0016787[hydrolase activity] GO:0016925[protein sumoylation] GO:0017018[myosin phosphatase activity] GO:0030154[cell differentiation] GO:0035335[peptidyl-tyrosine dephosphorylation] GO:0042471[ear morphogenesis] GO:0045739[positive regulation of DNA repair] GO:0046872[metal ion binding] GO:0048856[anatomical structure development] GO:0140793[histone tyrosine phosphatase activity (H2-Y142 specific)] GO:2001240[negative regulation of extrinsic apoptotic signaling pathway in absence of ligand]
Enzymes ENZYME proteins Hydrolases MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0004721[phosphoprotein phosphatase activity] GO:0004722[protein serine/threonine phosphatase activity] GO:0004725[protein tyrosine phosphatase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006281[DNA repair] GO:0006302[double-strand break repair] GO:0006325[chromatin organization] GO:0006974[cellular response to DNA damage stimulus] GO:0007275[multicellular organism development] GO:0007605[sensory perception of sound] GO:0009653[anatomical structure morphogenesis] GO:0009887[animal organ morphogenesis] GO:0010212[response to ionizing radiation] GO:0016570[histone modification] GO:0016604[nuclear body] GO:0016787[hydrolase activity] GO:0016925[protein sumoylation] GO:0017018[myosin phosphatase activity] GO:0030154[cell differentiation] GO:0035335[peptidyl-tyrosine dephosphorylation] GO:0042471[ear morphogenesis] GO:0045739[positive regulation of DNA repair] GO:0046872[metal ion binding] GO:0048856[anatomical structure development] GO:0140793[histone tyrosine phosphatase activity (H2-Y142 specific)] GO:2001240[negative regulation of extrinsic apoptotic signaling pathway in absence of ligand]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations
Enzymes ENZYME proteins Hydrolases MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0004721[phosphoprotein phosphatase activity] GO:0004722[protein serine/threonine phosphatase activity] GO:0004725[protein tyrosine phosphatase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006281[DNA repair] GO:0006302[double-strand break repair] GO:0006325[chromatin organization] GO:0006974[cellular response to DNA damage stimulus] GO:0007275[multicellular organism development] GO:0007605[sensory perception of sound] GO:0009653[anatomical structure morphogenesis] GO:0009887[animal organ morphogenesis] GO:0010212[response to ionizing radiation] GO:0016570[histone modification] GO:0016604[nuclear body] GO:0016787[hydrolase activity] GO:0016925[protein sumoylation] GO:0017018[myosin phosphatase activity] GO:0030154[cell differentiation] GO:0035335[peptidyl-tyrosine dephosphorylation] GO:0042471[ear morphogenesis] GO:0045739[positive regulation of DNA repair] GO:0046872[metal ion binding] GO:0048856[anatomical structure development] GO:0140793[histone tyrosine phosphatase activity (H2-Y142 specific)] GO:2001240[negative regulation of extrinsic apoptotic signaling pathway in absence of ligand]
Enzymes ENZYME proteins Hydrolases MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0004721[phosphoprotein phosphatase activity] GO:0004722[protein serine/threonine phosphatase activity] GO:0004725[protein tyrosine phosphatase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006281[DNA repair] GO:0006302[double-strand break repair] GO:0006325[chromatin organization] GO:0006974[cellular response to DNA damage stimulus] GO:0007275[multicellular organism development] GO:0007605[sensory perception of sound] GO:0009653[anatomical structure morphogenesis] GO:0009887[animal organ morphogenesis] GO:0010212[response to ionizing radiation] GO:0016570[histone modification] GO:0016604[nuclear body] GO:0016787[hydrolase activity] GO:0016925[protein sumoylation] GO:0017018[myosin phosphatase activity] GO:0030154[cell differentiation] GO:0035335[peptidyl-tyrosine dephosphorylation] GO:0042471[ear morphogenesis] GO:0045739[positive regulation of DNA repair] GO:0046872[metal ion binding] GO:0048856[anatomical structure development] GO:0140793[histone tyrosine phosphatase activity (H2-Y142 specific)] GO:2001240[negative regulation of extrinsic apoptotic signaling pathway in absence of ligand]
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