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Aliases for EYA1 Gene

Aliases for EYA1 Gene

  • EYA Transcriptional Coactivator And Phosphatase 1 2 3 5
  • EC 3.1.3.48 4 61
  • Eyes Absent (Drosophila) Homolog 1 2
  • Eyes Absent Homolog 1 (Drosophila) 2
  • Eyes Absent Homolog 1 3
  • EC 3.1.3.16 4
  • BOS1 3
  • OFC1 3
  • BOR 3
  • BOP 3

External Ids for EYA1 Gene

Previous HGNC Symbols for EYA1 Gene

  • BOR

Previous GeneCards Identifiers for EYA1 Gene

  • GC08M072050
  • GC08M071832
  • GC08M072159
  • GC08M072272
  • GC08M067603

Summaries for EYA1 Gene

Entrez Gene Summary for EYA1 Gene

  • 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]

GeneCards Summary for EYA1 Gene

EYA1 (EYA Transcriptional Coactivator And Phosphatase 1) is a Protein Coding gene. Diseases associated with EYA1 include Otofaciocervical Syndrome and Branchiootic Syndrome 1. Among its related pathways are DNA Double-Strand Break Repair and Transcriptional misregulation in cancer. GO annotations related to this gene include RNA binding and protein tyrosine phosphatase activity. An important paralog of this gene is EYA4.

UniProtKB/Swiss-Prot for EYA1 Gene

  • 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 (PubMed:19234442). 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).

Gene Wiki entry for EYA1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EYA1 Gene

Genomics for EYA1 Gene

Regulatory Elements for EYA1 Gene

Enhancers for EYA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G071327 0.7 ENCODE 11.1 +220.4 220419 0.1 PKNOX1 E2F1 GATA3 FOSL2 FOS RCOR1 TCF7L2 DPF2 REST MNT EYA1 GC08M071253 GC08M071444
GH08G071520 0.6 ENCODE 12.5 +27.5 27469 0.2 OSR2 PRDM6 FEZF1 KLF8 ZXDB ZNF18 EYA1 LOC102724772 TRAPPC2P2
GH08G071547 0.6 ENCODE 11.8 +0.2 242 0.8 RING1 RNF2 L3MBTL2 MAX RBBP5 E2F1 CTBP2 KDM1A EZH2 EYA1 LOC102724772
GH08G071558 0.5 ENCODE 11.5 -10.4 -10382 0.1 RNF2 SUZ12 CBX2 RBBP5 EZH2 EYA1 LOC105375892
GH08G071557 0.8 FANTOM5 ENCODE 7.1 -9.3 -9332 0.4 RNF2 POLR2A SMARCA4 SUZ12 CBX2 EZH2 LOC105375892 EYA1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EYA1 on UCSC Golden Path with GeneCards custom track

Promoters for EYA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000225776 209 601 RNF2 CTBP2 KDM1A RBBP5 EZH2

Genomic Location for EYA1 Gene

Chromosome:
8
Start:
71,197,433 bp from pter
End:
71,548,109 bp from pter
Size:
350,677 bases
Orientation:
Minus strand

Genomic View for EYA1 Gene

Genes around EYA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EYA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EYA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EYA1 Gene

Proteins for EYA1 Gene

  • Protein details for EYA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99502-EYA1_HUMAN
    Recommended name:
    Eyes absent homolog 1
    Protein Accession:
    Q99502
    Secondary Accessions:
    • A6NHQ0
    • G5E9R4
    • Q0P516
    • Q8WX80

    Protein attributes for EYA1 Gene

    Size:
    592 amino acids
    Molecular mass:
    64593 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Probably interacts with SIX2, SIX4 and SIX5. Interacts with H2AX in response to DNA damage. Interacts with SIX3; promotes EYA1 translocation to the nucleus.

    Alternative splice isoforms for EYA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EYA1 Gene

Selected DME Specific Peptides for EYA1 Gene

Q99502:
  • WDLDETII
  • GGVDWMRKLAFRYR
  • LVTTTQL
  • GKESCFERI
  • MEEMIFNLADTHLFFNDLE
  • PALAKVLL
  • FPIENIYSATK
  • SDDNGQDLS
  • IGDGVEEEQGAKKH

Post-translational modifications for EYA1 Gene

Domains & Families for EYA1 Gene

Protein Domains for EYA1 Gene

Graphical View of Domain Structure for InterPro Entry

Q99502

UniProtKB/Swiss-Prot:

EYA1_HUMAN :
  • Belongs to the HAD-like hydrolase superfamily. EYA family.
Family:
  • Belongs to the HAD-like hydrolase superfamily. EYA family.
genes like me logo Genes that share domains with EYA1: view

Function for EYA1 Gene

Molecular function for EYA1 Gene

GENATLAS Biochemistry:
Drosophila eyes absent gene (eya),homolog 1 with two transcripts,(EYA1A),highly expressed in fetal kidney,adult heart and skeletal muscle (4.4 kb isoform) and two more alternatively spliced isoforms differing from EYA1A by their N termini
UniProtKB/Swiss-Prot CatalyticActivity:
Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
[a protein]-serine/threonine phosphate + H(2)O = [a protein]-serine/threonine + phosphate.
UniProtKB/Swiss-Prot Function:
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 (PubMed:19234442). 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).

Enzyme Numbers (IUBMB) for EYA1 Gene

Gene Ontology (GO) - Molecular Function for EYA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0004721 phosphoprotein phosphatase activity IEA --
GO:0004725 protein tyrosine phosphatase activity IDA 19234442
GO:0005515 protein binding IPI 15141091
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with EYA1: view
genes like me logo Genes that share phenotypes with EYA1: view

Human Phenotype Ontology for EYA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EYA1 Gene

MGI Knock Outs for EYA1:

Animal Model Products

CRISPR Products

miRNA for EYA1 Gene

miRTarBase miRNAs that target EYA1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for EYA1 Gene

Localization for EYA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EYA1 Gene

Cytoplasm. Nucleus. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs). {ECO:0000269 PubMed:19234442}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EYA1 gene
Compartment Confidence
nucleus 5
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for EYA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 19234442
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA,IEA 19497856
GO:0016604 nuclear body IDA --
GO:0032993 protein-DNA complex IEA --
genes like me logo Genes that share ontologies with EYA1: view

Pathways & Interactions for EYA1 Gene

genes like me logo Genes that share pathways with EYA1: view

SIGNOR curated interactions for EYA1 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for EYA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000132 establishment of mitotic spindle orientation IEA --
GO:0001656 metanephros development IEA --
GO:0001657 ureteric bud development IEA --
GO:0001658 branching involved in ureteric bud morphogenesis IEA --
GO:0003151 outflow tract morphogenesis IEA --
genes like me logo Genes that share ontologies with EYA1: view

Drugs & Compounds for EYA1 Gene

(3) Drugs for EYA1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Magnesium Nutra 0

(1) Additional Compounds for EYA1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with EYA1: view

Transcripts for EYA1 Gene

Unigene Clusters for EYA1 Gene

Eyes absent homolog 1 (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EYA1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b · 18c
SP1: -
SP2: - - -
SP3:
SP4: - -
SP5: - -

Relevant External Links for EYA1 Gene

GeneLoc Exon Structure for
EYA1
ECgene alternative splicing isoforms for
EYA1

Expression for EYA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EYA1 Gene

mRNA differential expression in normal tissues according to GTEx for EYA1 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x8.9), Brain - Caudate (basal ganglia) (x7.4), Brain - Nucleus accumbens (basal ganglia) (x6.5), and Pituitary (x6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for EYA1 Gene



Protein tissue co-expression partners for EYA1 Gene

NURSA nuclear receptor signaling pathways regulating expression of EYA1 Gene:

EYA1

SOURCE GeneReport for Unigene cluster for EYA1 Gene:

Hs.491997

mRNA Expression by UniProt/SwissProt for EYA1 Gene:

Q99502-EYA1_HUMAN
Tissue specificity: In the embryo, highly expressed in kidney with lower levels in brain. Weakly expressed in lung. In the adult, highly expressed in heart and skeletal muscle. Weakly expressed in brain and liver. No expression in eye or kidney.

Evidence on tissue expression from TISSUES for EYA1 Gene

  • Kidney(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EYA1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • face
  • head
  • inner ear
  • jaw
  • lacrimal apparatus
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • thyroid
  • tongue
  • tooth
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • ureter
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with EYA1: view

Primer Products

No data available for Protein differential expression in normal tissues for EYA1 Gene

Orthologs for EYA1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EYA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EYA1 34 35
  • 99.61 (n)
dog
(Canis familiaris)
Mammalia EYA1 34 35
  • 94.61 (n)
cow
(Bos Taurus)
Mammalia EYA1 34 35
  • 93.89 (n)
mouse
(Mus musculus)
Mammalia Eya1 34 16 35
  • 90.52 (n)
rat
(Rattus norvegicus)
Mammalia Eya1 34
  • 85.71 (n)
oppossum
(Monodelphis domestica)
Mammalia EYA1 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EYA1 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves EYA1 34 35
  • 86.49 (n)
lizard
(Anolis carolinensis)
Reptilia EYA1 35
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eya1 34
  • 81.91 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.779 34
zebrafish
(Danio rerio)
Actinopterygii eya1 34 35
  • 79.75 (n)
fruit fly
(Drosophila melanogaster)
Insecta eya 36 35
  • 64 (a)
worm
(Caenorhabditis elegans)
Secernentea eya-1 34 35
  • 43.38 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons EYA 34
  • 45.28 (n)
rice
(Oryza sativa)
Liliopsida Os06g0110100 34
  • 49.09 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8681 35
  • 66 (a)
OneToMany
Species where no ortholog for EYA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EYA1 Gene

ENSEMBL:
Gene Tree for EYA1 (if available)
TreeFam:
Gene Tree for EYA1 (if available)

Paralogs for EYA1 Gene

Paralogs for EYA1 Gene

(4) SIMAP similar genes for EYA1 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with EYA1: view

Variants for EYA1 Gene

Sequence variations from dbSNP and Humsavar for EYA1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs112340154 Branchiootorenal syndrome 1 (BOR1) [MIM:113650] 71,215,443(+) CATAC(A/G)GCAGG reference, missense
rs121909196 Pathogenic, Branchiootorenal syndrome 1 (BOR1) [MIM:113650] 71,216,733(-) CAGAC(A/G)GGTAA reference, missense
rs121909197 Pathogenic, Anterior segment anomalies with or without cataract (ASA) [MIM:602588] 71,211,215(-) TTGGA(A/G)GAAAA reference, missense
rs121909198 Pathogenic, Anterior segment anomalies with or without cataract (ASA) [MIM:602588] 71,244,656(-) GAATG(A/G)AAGAA intron-variant, reference, missense
rs121909199 Pathogenic, Branchiootorenal syndrome 1 (BOR1) [MIM:113650] 71,216,776(-) TACGG(A/G)GCGGT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for EYA1 Gene

Variant ID Type Subtype PubMed ID
dgv1188n67 CNV loss 20364138
dgv12191n54 CNV loss 21841781
dgv12192n54 CNV loss 21841781
dgv12193n54 CNV loss 21841781
dgv12194n54 CNV loss 21841781
dgv12195n54 CNV loss 21841781
dgv12196n54 CNV loss 21841781
dgv12197n54 CNV loss 21841781
dgv1292e199 CNV deletion 23128226
dgv159e203 CNV loss 21179565
dgv185e180 CNV loss 20482838
dgv2087e212 CNV gain 25503493
dgv2088e212 CNV loss 25503493
dgv2089e212 CNV loss 25503493
esv1006917 CNV deletion 20482838
esv1250988 CNV insertion 17803354
esv2421699 CNV deletion 20811451
esv2737146 CNV deletion 23290073
esv2737147 CNV deletion 23290073
esv28990 CNV loss 19812545
esv32722 CNV loss 17666407
esv3543636 CNV deletion 23714750
esv3584890 CNV loss 24956385
esv3617586 CNV loss 21293372
esv3617588 CNV loss 21293372
esv995470 CNV deletion 20482838
nsv1161770 CNV deletion 26073780
nsv442522 CNV loss 18776908
nsv465712 CNV loss 19166990
nsv465713 CNV loss 19166990
nsv471758 CNV loss 16327809
nsv477968 CNV novel sequence insertion 20440878
nsv515101 CNV loss 21397061
nsv515719 CNV gain+loss 19592680
nsv521495 CNV loss 19592680
nsv611490 CNV loss 21841781
nsv611491 CNV loss 21841781
nsv611492 CNV loss 21841781
nsv611501 CNV loss 21841781
nsv611529 CNV loss 21841781
nsv818638 CNV loss 17921354
nsv818639 CNV loss 17921354
nsv819926 CNV loss 19587683
nsv8360 CNV loss 18304495

Variation tolerance for EYA1 Gene

Residual Variation Intolerance Score: 27.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.89; 67.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EYA1 Gene

Human Gene Mutation Database (HGMD)
EYA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EYA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EYA1 Gene

Disorders for EYA1 Gene

MalaCards: The human disease database

(19) MalaCards diseases for EYA1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
otofaciocervical syndrome
  • ofc syndrome
branchiootic syndrome 1
  • anterior segment anomalies with or without cataract
branchiootorenal syndrome 1, with or without cataracts
  • anterior segment anomalies with or without cataract
branchiootorenal syndrome
  • branchio-oto-renal syndrome
branchiootic syndrome
  • branchiootic syndrome 1
- elite association - COSMIC cancer census association via MalaCards
Search EYA1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EYA1_HUMAN
  • Anterior segment anomalies with or without cataract (ASA) [MIM:602588]: A disease characterized by various types of developmental eye anomalies, in the absence of other abnormalities. The phenotypic spectrum of anterior segment anomalies include central corneal opacity, Peters anomaly, and bilateral persistence of the pupillary membrane. Some patients have cataract. {ECO:0000269 PubMed:10655545}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Branchiootic syndrome 1 (BOS1) [MIM:602588]: A syndrome characterized by usually bilateral branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, and structural defects of the outer, middle or inner ear. Otic defects include malformed and hypoplastic pinnae, a narrowed external ear canal, bulbous internal auditory canal, stapes fixation, malformed and hypoplastic cochlea. Branchial and otic anomalies overlap with those seen in individuals with the branchiootorenal syndrome. However renal anomalies are absent in branchiootic syndrome patients. {ECO:0000269 PubMed:12701758, ECO:0000269 PubMed:16691597, ECO:0000269 PubMed:9359046}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Branchiootorenal syndrome 1 (BOR1) [MIM:113650]: A syndrome characterized by branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, structural defects of the outer, middle or inner ear, and renal malformations. {ECO:0000269 PubMed:10464653, ECO:0000269 PubMed:10655545, ECO:0000269 PubMed:10991693, ECO:0000269 PubMed:11558900, ECO:0000269 PubMed:21280147, ECO:0000269 PubMed:9361030}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Otofaciocervical syndrome 1 (OTFCS1) [MIM:166780]: A disorder characterized by facial dysmorphism, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability. {ECO:0000269 PubMed:11409867, ECO:0000269 PubMed:16441263}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for EYA1

Genetic Association Database (GAD)
EYA1
Human Genome Epidemiology (HuGE) Navigator
EYA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EYA1
genes like me logo Genes that share disorders with EYA1: view

No data available for Genatlas for EYA1 Gene

Publications for EYA1 Gene

  1. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. (PMID: 9020840) Abdelhak S. … Petit C. (Nat. Genet. 1997) 2 3 4 22 64
  2. Point mutation of an EYA1-gene splice site in a patient with oto- facio-cervical syndrome. (PMID: 16441263) Estefania E. … Vilches C. (Ann. Hum. Genet. 2006) 3 4 22 64
  3. Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum. (PMID: 16691597) Spruijt L. … de Die-Smulders C.E.M. (Am. J. Med. Genet. A 2006) 3 4 22 64
  4. Mutation of the EYA1 gene in patients with branchio-oto syndrome. (PMID: 12701758) Yashima T. … Kitamura K. (Acta Oto-Laryngol. 2003) 3 4 22 64
  5. Six and Eya expression during human somitogenesis and MyoD gene family activation. (PMID: 12500905) Fougerousse F. … Maire P. (J. Muscle Res. Cell Motil. 2002) 3 4 22 64

Products for EYA1 Gene

Sources for EYA1 Gene

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