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Exosc8 Gene Detail
Summary
  • Symbol
    Exosc8
  • Name
    exosome component 8
  • Synonyms
    2310032N20Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1916889
    NCBI Gene: 69639
  • Gene Overview
    MyGene.info: EXOSC8
Location & Maps
more
  • Sequence Map
    Chr3:54728678-54735393 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      6716 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 25.60 cM, cytoband D
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    EXOSC8, exosome component 8
  • Vertebrate Orthologs
    10
  • Human Ortholog
    EXOSC8, exosome component 8
    Orthology source: HGNC, HomoloGene
  • Synonyms
    bA421P11.3, CIP3, EAP2, OIP2, p9, PCH1C, RRP43, Rrp43p
  • Links
    NCBI Gene ID: 11340
    neXtProt AC: NX_Q96B26

  • Chr Location
    13q13.1; chr13:37000373-37009614 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human EXOSC8 associations

Human Disease Mouse Models
       Pontocerebellar Hypoplasia, Type 1C; PCH1C   OMIM: 616081
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    3 phenotypes from 1 allele in 1 genetic background
    16 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.
  • All Mutations and Alleles
    27
  • Gene trapped
    20
  • Radiation induced
    2
  • Targeted
    5
  • Genomic Mutations
    2 involving Exosc8
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000028205 VEGA Gene Model | MGI Sequence Detail 6716 C57BL/6J ±  kb
transcript OTTMUST00000069865 VEGA | MGI Sequence Detail 1300 Not Applicable  
polypeptide OTTMUSP00000035541 VEGA | MGI Sequence Detail 276 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    56 from dbSNP Build 142
Protein
Information
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  • UniProt
    8 Sequences
  • Protein Ontology
    PR:000007265 exosome complex component RRP43
  • InterPro Domains
    IPR001247 Exoribonuclease, phosphorolytic domain 1
    IPR015847 Exoribonuclease, phosphorolytic domain 2
    IPR033196 Exosome complex component Rrp43
    IPR027408 PNPase/RNase PH domain
    IPR020568 Ribosomal protein S5 domain 2-type fold
Molecular
Reagents
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  • All nucleic 9
    cDNA 9

    Microarray probesets 3
References
more
  • Summaries
    All 32
    Developmental Gene Expression 2
    Gene Ontology 4
    Phenotypes 16
  • 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:228563 Koscielny G, et al., The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. Nucleic Acids Res. 2014 Jan;42(Database issue):D802-9

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
08/17/2016
MGI 6.05
The Jackson Laboratory