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Eya1 Gene Detail
Summary
  • Symbol
    Eya1
  • Name
    EYA transcriptional coactivator and phosphatase 1
  • Synonyms
    bor
  • Feature Type
    protein coding gene
  • IDs
    MGI:109344
    NCBI Gene: 14048
  • Gene Overview
    MyGene.info: EYA1
Location & Maps
more
  • Sequence Map
    Chr1:14168958-14310235 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      141278 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 4.31 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    EYA1, EYA transcriptional coactivator and phosphatase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    EYA1, EYA transcriptional coactivator and phosphatase 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BOP, BOR, BOS1, OFC1
  • Links
    NCBI Gene ID: 2138
    neXtProt AC: NX_Q99502

  • Chr Location
    8q13.3; chr8:71197433-71548109 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Eya1 mouse models; 3 with human EYA1 associations

Human Disease Mouse Models
       Branchiootorenal Syndrome 1; BOR1   OMIM: 113650 View 4 models
       Branchiootic Syndrome 1; BOS1   OMIM: 602588
Otofaciocervical Syndrome 1; OTFCS   OMIM: 166780
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    113 phenotypes from 4 alleles in 11 genetic backgrounds
    45 phenotypes from multigenic genotypes
    32 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    9
  • Gene trapped
    3
  • Spontaneous
    1
  • Targeted
    5
  • Incidental Mutations
Mutations in this locus affect inner ear morphology and hearing, and result in dysmorphic or absent kidneys. Hypomorphs are deaf and circle. Null homozygotes additionally show agenesis of thymus and parathyroid and thyroid hypoplasia.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000049176 VEGA Gene Model | MGI Sequence Detail 141278 C57BL/6J ±  kb
transcript OTTMUST00000125475 VEGA | MGI Sequence Detail 2199 Not Applicable  
polypeptide OTTMUSP00000068008 VEGA | MGI Sequence Detail 591 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    940 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 45
    Genomic 1
    cDNA 32
    Primer pair 4
    Other 8

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-38389, MGI:1891212
References
more
  • Summaries
    All 134
    Developmental Gene Expression 96
    Diseases 2
    Gene Ontology 25
    Phenotypes 32
  • Earliest
    J:38379 Xu PX, et al., Mouse Eya homologues of the Drosophila eyes absent gene require Pax6 for expression in lens and nasal placode. Development. 1997 Jan;124(1):219-31
  • Latest
    J:228880 Birol O, et al., The mouse Foxi3 transcription factor is necessary for the development of posterior placodes. Dev Biol. 2016 Jan 1;409(1):139-51

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory