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Ruvbl2 Gene Detail
Summary
  • Symbol
    Ruvbl2
  • Name
    RuvB-like AAA ATPase 2
  • Synonyms
    mp47, p47
  • Feature Type
    protein coding gene
  • IDs
    MGI:1342299
    NCBI Gene: 20174
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:45071320-45084817 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 29.30 cM, cytoband B2
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    392 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1342299
 protein coding gene Chr7:45071184-45087520 (-)
129S1/SvImJ MGP_129S1SvImJ_G0032221
 protein coding gene Chr7:45677846-45694167 (-)
A/J MGP_AJ_G0032200
 protein coding gene Chr7:44808531-44824773 (-)
AKR/J MGP_AKRJ_G0032136
 protein coding gene Chr7:46051422-46067666 (-)
BALB/cJ MGP_BALBcJ_G0032212
 protein coding gene Chr7:44797504-44813782 (-)
C3H/HeJ MGP_C3HHeJ_G0031928
 protein coding gene Chr7:46530665-46547979 (-)
C57BL/6NJ MGP_C57BL6NJ_G0032704
 protein coding gene Chr7:47948311-47964549 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029718
 protein coding gene Chr7:47359324-47375197 (-)
CAST/EiJ MGP_CASTEiJ_G0031256
 protein coding gene Chr7:37942435-37960423 (-)
CBA/J MGP_CBAJ_G0031892
 protein coding gene Chr7:49529475-49545701 (-)
DBA/2J MGP_DBA2J_G0032050
 protein coding gene Chr7:44470987-44487271 (-)
FVB/NJ MGP_FVBNJ_G0032001
 protein coding gene Chr7:44256573-44272819 (-)
LP/J MGP_LPJ_G0032128
 protein coding gene Chr7:46379127-46396862 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0032038
 protein coding gene Chr7:48232023-48249477 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0032720
 protein coding gene Chr7:45264303-45280565 (-)
PWK/PhJ MGP_PWKPhJ_G0030979
 protein coding gene Chr7:37845803-37862141 (-)
SPRET/EiJ MGP_SPRETEiJ_G0030816
 protein coding gene Chr7:33272927-33289123 (-)
WSB/EiJ MGP_WSBEiJ_G0031373
 protein coding gene Chr7:45758960-45775586 (-)



Homology
more
  • Human Ortholog
    RUVBL2, RuvB like AAA ATPase 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RUVBL2, RuvB like AAA ATPase 2
  • Synonyms
    CGI-46, ECP-51, ECP51, INO80J, REPTIN, RVB2, TAP54-beta, TIH2, TIP48, TIP49B
  • Links
    NCBI Gene ID: 10856
    neXtProt AC: NX_Q9Y230
    UniProt: Q9Y230

  • Chr Location
    19q13.33; chr19:48993448-49015995 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    16 phenotypes from 2 alleles in 3 genetic backgrounds
    1 images
    11 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.
Mice homozygous for a knock-out allele show complete embryonic lethality by E7.5. In vitro, blastocysts hatch from the zona pellucida but form irregular outgrowths with a poorly defined inner cell mass colony.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    114
  • GO References
    19
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
    786
  • Tissues
    47
  • cDNA Data
    142
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20174 NCBI Gene Model | MGI Sequence Detail 13498 C57BL/6J ±  kb
    transcript NM_001417243 RefSeq | MGI Sequence Detail 2082 C57BL/6  
    polypeptide Q9WTM5 UniProt | EBI | MGI Sequence Detail 463 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 142
      cDNA 142

      Microarray probesets 4
    References
    more
    • Summaries
      All 57
      Developmental Gene Expression 6
      Gene Ontology 19
      Phenotypes 11
    • Earliest
      J:55328 Gohshi T, et al., Molecular cloning of mouse p47, a second group mammalian RuvB DNA helicase-like protein: homology with those from human and Saccharomyces cerevisiae. J Biochem. 1999 May;125(5):939-46
    • Latest
      J:341076 Hattori A, et al., Genetic and chemical targeting of the ATPase complex TIP48 and 49 impairs acute myeloid leukemia. Leukemia. 2023 Jul 25;
    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
    12/17/2024
    MGI 6.24     		The Jackson Laboratory