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Ush2a Gene Detail
Summary
  • Symbol
    Ush2a
  • Name
    usherin
  • Synonyms
    A930011D15Rik, A930037M10Rik, LOC269160, LOC381317, MUSH2A, Ush2a, Ushrn
  • Feature Type
    protein coding gene
  • IDs
    MGI:1341292
    NCBI Gene: 22283
  • Gene Overview
    MyGene.info: USH2A
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:188262838-188965497 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 92.29 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    5846 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1341292
protein coding gene Chr1:188262023-188965497 (.)
129S1/SvImJ MGP_129S1SvImJ_G0016925
protein coding gene Chr1:195120382-195838305 (+)
A/J MGP_AJ_G0016904
protein coding gene Chr1:187131468-187838679 (+)
AKR/J MGP_AKRJ_G0016869
protein coding gene Chr1:192644018-193350024 (+)
BALB/cJ MGP_BALBcJ_G0016862
protein coding gene Chr1:187820830-188508622 (+)
C3H/HeJ MGP_C3HHeJ_G0016686
protein coding gene Chr1:193511451-194226625 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017325
protein coding gene Chr1:201358484-202118466 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015032
protein coding gene Chr1:178105522-178779933 (+)
CAST/EiJ MGP_CASTEiJ_G0016269
protein coding gene Chr1:193058360-193795821 (+)
CBA/J MGP_CBAJ_G0016660
protein coding gene Chr1:208853234-209632914 (+)
DBA/2J MGP_DBA2J_G0016766
protein coding gene Chr1:185895139-186583558 (+)
FVB/NJ MGP_FVBNJ_G0016762
protein coding gene Chr1:183996999-184685096 (+)
LP/J MGP_LPJ_G0016841
protein coding gene Chr1:196296993-197021561 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0016794
protein coding gene Chr1:215630059-216370206 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017362
protein coding gene Chr1:192558219-193284094 (+)
PWK/PhJ MGP_PWKPhJ_G0016056
protein coding gene Chr1:185131061-185833770 (+)
SPRET/EiJ MGP_SPRETEiJ_G0015832
protein coding gene Chr1:191521664-192262632 (+)
WSB/EiJ MGP_WSBEiJ_G0016331
protein coding gene Chr1:192744683-193474661 (+)



Homology
more
  • Human Ortholog
    USH2A, usherin
  • Vertebrate Orthologs
    9
  • Human Ortholog
    USH2A, usherin
    Orthology source: HomoloGene, HGNC
  • Synonyms
    dJ1111A8.1, RP39, US2, USH2
  • Links
    NCBI Gene ID: 7399
    neXtProt AC: NX_O75445
    UniProt: O75445

  • Chr Location
    1q41; chr1:215622894-216423396 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Ush2a mouse models; 2 with human USH2A associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    9 phenotypes from 1 allele in 1 genetic background
    1 phenotype from multigenic genotypes
    2 images
    10 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele display progressive retinal photoreceptor degeneration along with significantly reduced a- and b-wave amplitudes, and a moderate but nonprogressive high-frequency hearing loss associated with widespread loss of outer hair cells in the basal turn of the cochlea.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 22283 NCBI Gene Model | MGI Sequence Detail 702660 C57BL/6J ±  kb
    transcript NM_021408 RefSeq | MGI Sequence Detail 15891 C57BL/6  
    polypeptide Q2QI47 UniProt | EBI | MGI Sequence Detail 5193 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 6
      cDNA 4
      Primer pair 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1924350, MGI:2685522, MGI:2685829
    References
    more
    • Summaries
      All 48
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 13
      Phenotypes 10
    • Earliest
      J:56089 Danciger JS, et al., Genetic and physical maps of the mouse rd3 locus; exclusion of the ortholog of USH2A. Mamm Genome. 1999 Jul;10(7):657-61
    • Latest
      J:226845 Zou J, et al., Individual USH2 proteins make distinct contributions to the ankle link complex during development of the mouse cochlear stereociliary bundle. Hum Mol Genet. 2015 Dec 15;24(24):6944-57

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    Funding Information
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory