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Vcp Gene Detail
Summary
  • Symbol
    Vcp
  • Name
    valosin containing protein
  • Synonyms
    AAA ATPase p97, CDC48, p97, p97/VCP
  • Feature Type
    protein coding gene
  • IDs
    MGI:99919
    NCBI Gene: 269523
  • Gene Overview
    MyGene.info: VCP
Location & Maps
more
  • Sequence Map
    Chr4:42979963-43000507 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      20545 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 22.95 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    VCP, valosin containing protein
  • Vertebrate Orthologs
    9
  • Human Ortholog
    VCP, valosin containing protein
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ALS14, CMT2Y, HEL-220, HEL-S-70, IBMPFD, IBMPFD1, p97, TERA
  • Links
    NCBI Gene ID: 7415
    neXtProt AC: NX_P55072

  • Chr Location
    9p13.3; chr9:35056068-35072742 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Vcp mouse models; 3 with human VCP associations

Human Disease Mouse Models
       Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1; IBMPFD1   OMIM: 167320 View 5 models
       Amyotrophic Lateral Sclerosis 14 with or without Frontotemporal Dementia;   OMIM: 613954
Charcot-Marie-Tooth Disease, Axonal, Type 2y; CMT2Y   OMIM: 616687
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    38 phenotypes from 4 alleles in 6 genetic backgrounds
    26 phenotypes from multigenic genotypes
    17 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
    31
  • Chemically and radiation induced
    1
  • Gene trapped
    21
  • Targeted
    5
  • Transgenic
    4
  • Genomic Mutations
    1 involving Vcp
  • Incidental Mutations
Homozygous mutation of this gene results in lethality before weaning. Mice homozygous for a knock-in allele exhibit progressive muscle weakness, myopathy, decreased bone density, increased osteoclast genesis, and seizures.
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 OTTMUSG00000006688 VEGA Gene Model | MGI Sequence Detail 20545 C57BL/6J ±  kb
transcript OTTMUST00000015330 VEGA | MGI Sequence Detail 3316 Not Applicable  
polypeptide OTTMUSP00000007079 VEGA | MGI Sequence Detail 806 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    199 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 30
    Genomic 6
    cDNA 24

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-16720
References
more
  • Summaries
    All 81
    Developmental Gene Expression 5
    Diseases 6
    Gene Ontology 30
    Phenotypes 17
  • Earliest
    J:2369 Egerton M, et al., VCP, the mammalian homolog of cdc48, is tyrosine phosphorylated in response to T cell antigen receptor activation. EMBO J. 1992 Oct;11(10):3533-40
  • Latest
    J:232691 Nalbandian A, et al., Targeted excision of VCP R155H mutation by Cre-LoxP technology as a promising therapeutic strategy for valosin-containing protein disease. Hum Gene Ther Methods. 2015 Feb;26(1):13-24

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory