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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
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:187995035-188697694 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 92.29 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    19717 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 Chr1:187994220-188697694 (+)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    USH2A, usherin
  • Synonyms
    dJ1111A8.1, RP39, US2, USH2
  • Links
    NCBI Gene ID: 7399
    neXtProt AC: NX_O75445
    UniProt: O75445

  • Chr Location
    1q41; chr1:215622891-216423448 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Ush2a mouse models; 6 with human USH2A associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
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
    19 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.
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
less
  • All GO Annotations
    54
  • GO References
    19
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    727
  • Tissues
    8
  • cDNA Data
    5
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 ZRU/MplStud  
    polypeptide Q2QI47 UniProt | EBI | MGI Sequence Detail 5193 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 9
      cDNA 6
      Primer pair 3

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1924350, MGI:2685522, MGI:2685829
    References
    more
    • Summaries
      All 63
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 19
      Phenotypes 19
    • 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:345851 Guan Y, et al., Deafness-Associated ADGRV1 Mutation Impairs USH2A Stability through Improper Phosphorylation of WHRN and WDSUB1 Recruitment. Adv Sci (Weinh). 2023 Jun;10(16):e2205993
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory