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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
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:115206018-115212867 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 80.84 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    46 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 Chr11:115206018-115214239 (-)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    USH1G, USH1 protein network component sans
  • Synonyms
    ANKS4A, SANS
  • Links
    NCBI Gene ID: 124590
    neXtProt AC: NX_Q495M9
    UniProt: Q495M9

  • Chr Location
    17q25.1; chr17:74916083-74923256 (-)  GRCh38
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
    28 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.
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
    37
  • GO References
    13
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
non-membrane-bounded 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
    737
  • Tissues
    24
  • cDNA Data
    6
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 57
      Developmental Gene Expression 4
      Diseases 3
      Gene Ontology 13
      Phenotypes 28
    • Earliest
      J:1174 Kitamura K, et al., Vestibular pathology in a new-mutant mouse. Acta Otolaryngol Suppl (Stockh). 1991;481:121-4
    • Latest
      J:345148 Vartanian V, et al., Spontaneous allelic variant in deafness-blindness gene Ush1g resulting in an expanded phenotype. Genes Brain Behav. 2023 Aug;22(4):e12849
    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
    04/09/2024
    MGI 6.23     		The Jackson Laboratory