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Ushbp1 Gene Detail
Summary
  • Symbol
    Ushbp1
  • Name
    USH1 protein network component harmonin binding protein 1
  • Synonyms
    2210404N08Rik, MCC2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1922920
    NCBI Gene: 234395
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:71836916-71848446 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 34.43 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    539 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1922920
 protein coding gene Chr8:71836916-71848480 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033742
 protein coding gene Chr8:71774602-71786835 (-)
A/J MGP_AJ_G0033725
 protein coding gene Chr8:68855661-68867189 (-)
AKR/J MGP_AKRJ_G0033650
 protein coding gene Chr8:70874752-70887442 (-)
BALB/cJ MGP_BALBcJ_G0033721
 protein coding gene Chr8:69021706-69033548 (-)
C3H/HeJ MGP_C3HHeJ_G0033431
 protein coding gene Chr8:71459309-71471224 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034239
 protein coding gene Chr8:74516598-74528115 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031181
 protein coding gene Chr8:63491752-63503537 (-)
CAST/EiJ MGP_CASTEiJ_G0032756
 protein coding gene Chr8:70912599-70925418 (-)
CBA/J MGP_CBAJ_G0033409
 protein coding gene Chr8:77136557-77148383 (-)
DBA/2J MGP_DBA2J_G0033563
 protein coding gene Chr8:68583888-68596545 (-)
FVB/NJ MGP_FVBNJ_G0033505
 protein coding gene Chr8:67661695-67673686 (-)
LP/J MGP_LPJ_G0033650
 protein coding gene Chr8:71751593-71763422 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033552
 protein coding gene Chr8:79715475-79727001 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034256
 protein coding gene Chr8:70945658-70957522 (-)
PWK/PhJ MGP_PWKPhJ_G0032463
 protein coding gene Chr8:67856565-67868095 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032300
 protein coding gene Chr8:69907986-69919669 (-)
WSB/EiJ MGP_WSBEiJ_G0032871
 protein coding gene Chr8:71293797-71307005 (-)



Homology
more
  • Human Ortholog
    USHBP1, USH1 protein network component harmonin binding protein 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    USHBP1, USH1 protein network component harmonin binding protein 1
  • Synonyms
    AIEBP, MCC2
  • Links
    NCBI Gene ID: 83878
    neXtProt AC: NX_Q8N6Y0
    UniProt: Q8N6Y0

  • Chr Location
    19p13.11; chr19:17249171-17282786 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    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
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    3
  • GO References
    3
Molecular Function

Biological Process

No experimental evidence to support Biological Process annotation, following literature review. See J:73796.
Cellular Component

No experimental evidence to support Cellular Component annotation, following literature review. See J:73796.
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
    714
  • Tissues
    8
  • cDNA Data
    20
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000034911 Ensembl Gene Model | MGI Sequence Detail 11531 C57BL/6J ±  kb
    transcript ENSMUST00000049184 Ensembl | MGI Sequence Detail 2438 Not Applicable  
    polypeptide ENSMUSP00000045668 Ensembl | MGI Sequence Detail 680 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 22
      cDNA 21
      Primer pair 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 34
      Developmental Gene Expression 2
      Gene Ontology 3
      Phenotypes 10
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    03/25/2025
    MGI 6.24     		The Jackson Laboratory