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Exosc2 Gene Detail
Summary
  • Symbol
    Exosc2
  • Name
    exosome component 2
  • Synonyms
    Rrp4
  • Feature Type
    protein coding gene
  • IDs
    MGI:2385133
    NCBI Gene: 227715
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:31560727-31571361 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 21.86 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    271 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2385133
 protein coding gene Chr2:31560727-31571593 (+)
129S1/SvImJ MGP_129S1SvImJ_G0025588
 protein coding gene Chr2:30029134-30040180 (+)
A/J MGP_AJ_G0025566
 protein coding gene Chr2:28790063-28800488 (+)
AKR/J MGP_AKRJ_G0025535
 protein coding gene Chr2:29765614-29779675 (+)
BALB/cJ MGP_BALBcJ_G0025562
 protein coding gene Chr2:28918960-28929512 (+)
C3H/HeJ MGP_C3HHeJ_G0025323
 protein coding gene Chr2:29695634-29708236 (+)
C57BL/6NJ MGP_C57BL6NJ_G0026007
 protein coding gene Chr2:30971216-30983457 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023415
 protein coding gene Chr2:27545952-27556861 (+)
CAST/EiJ MGP_CASTEiJ_G0024785
 protein coding gene Chr2:29641032-29652435 (+)
CBA/J MGP_CBAJ_G0025300
 protein coding gene Chr2:32082740-32094766 (+)
DBA/2J MGP_DBA2J_G0025433
 protein coding gene Chr2:28563442-28574525 (+)
FVB/NJ MGP_FVBNJ_G0025396
 protein coding gene Chr2:28422794-28433268 (+)
LP/J MGP_LPJ_G0025519
 protein coding gene Chr2:29918803-29929708 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025426
 protein coding gene Chr2:31834322-31850312 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0026065
 protein coding gene Chr2:29692244-29703750 (+)
PWK/PhJ MGP_PWKPhJ_G0024532
 protein coding gene Chr2:28463144-28474203 (+)
SPRET/EiJ MGP_SPRETEiJ_G0024332
 protein coding gene Chr2:29840558-29850652 (+)
WSB/EiJ MGP_WSBEiJ_G0024853
 protein coding gene Chr2:29863749-29875175 (+)



Homology
more
  • Human Ortholog
    EXOSC2, exosome component 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EXOSC2, exosome component 2
  • Synonyms
    hRrp4p, p7, RRP4, Rrp4p, SHRF
  • Links
    NCBI Gene ID: 23404
    neXtProt AC: NX_Q13868
    UniProt: Q13868

  • Chr Location
    9q34.12; chr9:130693721-130707288 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human EXOSC2 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    12 phenotypes from 1 allele in 1 genetic background
    1 images
    12 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.
Embryos homozygous for a knock-out allele form a morphologically normal blastocyst but show peri-implantation lethality, improper inner cell mass lineage differentiation, failure of blastocyst to hatch from the zona pellucida, and failure of embryo implantation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    34
  • GO References
    8
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
    723
  • Tissues
    17
  • cDNA Data
    47
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000039356 Ensembl Gene Model | MGI Sequence Detail 10635 C57BL/6J ±  kb
    transcript ENSMUST00000038474 Ensembl | MGI Sequence Detail 1686 Not Applicable  
    polypeptide ENSMUSP00000043519 Ensembl | MGI Sequence Detail 293 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 48
      cDNA 47
      Primer pair 1

      Microarray probesets 4
    References
    more
    • Summaries
      All 38
      Developmental Gene Expression 2
      Gene Ontology 8
      Phenotypes 12
    • Earliest
      J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
    • 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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/05/2024
    MGI 6.24     		The Jackson Laboratory