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Ush1g Gene Detail
Summary
  • Symbol
    Ush1g
  • Name
    USH1 protein network component sans
  • Synonyms
    js, Sans
  • Feature Type
    protein coding gene
  • IDs
    MGI:2450757
    NCBI Gene: 16470
  • Gene Overview
    MyGene.info: USH1G
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:115315192-115322041 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 80.84 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    48 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2450757
protein coding gene Chr11:115315192-115322980 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019380
protein coding gene Chr11:119332895-119339761 (-)
A/J MGP_AJ_G0019349
protein coding gene Chr11:114118363-114125313 (-)
AKR/J MGP_AKRJ_G0019319
protein coding gene Chr11:117522967-117529827 (-)
BALB/cJ MGP_BALBcJ_G0019323
protein coding gene Chr11:114534350-114541500 (-)
C3H/HeJ MGP_C3HHeJ_G0019129
protein coding gene Chr11:117877788-117884626 (-)
C57BL/6NJ MGP_C57BL6NJ_G0019773
protein coding gene Chr11:122972486-122979333 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017396
protein coding gene Chr11:111160506-111167550 (-)
CAST/EiJ MGP_CASTEiJ_G0018684
protein coding gene Chr11:119189054-119195923 (-)
CBA/J MGP_CBAJ_G0019101
protein coding gene Chr11:127819716-127826552 (-)
DBA/2J MGP_DBA2J_G0019212
protein coding gene Chr11:113556909-113563761 (-)
FVB/NJ MGP_FVBNJ_G0019204
protein coding gene Chr11:113030878-113037734 (-)
LP/J MGP_LPJ_G0019282
protein coding gene Chr11:119713938-119720806 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019237
protein coding gene Chr11:126994599-127001463 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0019811
protein coding gene Chr11:118183457-118190309 (-)
PWK/PhJ MGP_PWKPhJ_G0018448
protein coding gene Chr11:114836977-114844043 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018241
protein coding gene Chr11:117923659-117930516 (-)
WSB/EiJ MGP_WSBEiJ_G0018736
protein coding gene Chr11:118130541-118137356 (-)



Homology
more
  • Human Ortholog
    USH1G, USH1 protein network component sans
  • Vertebrate Orthologs
    9
  • Human Ortholog
    USH1G, USH1 protein network component sans
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ANKS4A, SANS
  • Links
    NCBI Gene ID: 124590
    neXtProt AC: NX_Q495M9
    UniProt: Q495M9

  • Chr Location
    17q25.1; chr17:74916083-74923263 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Ush1g mouse models; 1 with human USH1G associations

Human Disease Mouse Models
      
IDs
View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    36 phenotypes from 6 alleles in 6 genetic backgrounds
    1 phenotype from multigenic genotypes
    23 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.
Mutant homozygotes exhibit hyperactivity, head-tossing, circling behavior and profound deafness. Structurally, mutants display disorganized stereocilia of outer ear hair cells and degeneration of inner ear neuroepithelia.
Gene Ontology
(GO)
Classifications
less
  • 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 ENSMUSG00000045288 Ensembl Gene Model | MGI Sequence Detail 6850 C57BL/6J ±  kb
    transcript ENSMUST00000103037 Ensembl | MGI Sequence Detail 3306 Not Applicable  
    polypeptide ENSMUSP00000099326 Ensembl | MGI Sequence Detail 461 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 8
      cDNA 6
      Primer pair 2

      Microarray probesets 1
    Other
    Accession IDs
    less
    MGD-MRK-11532, MGI:96641
    References
    more
    • Summaries
      All 50
      Developmental Gene Expression 4
      Diseases 3
      Gene Ontology 12
      Phenotypes 23
    • Earliest
      J:1174 Kitamura K, et al., Vestibular pathology in a new-mutant mouse. Acta Otolaryngol Suppl (Stockh). 1991;481:121-4
    • Latest
      J:264491 Trouillet A, et al., Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments. Sci Rep. 2018 Jan 31;8(1):1968

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory