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Ccm2 Gene Detail
Summary
  • Symbol
    Ccm2
  • Name
    cerebral cavernous malformation 2
  • Synonyms
    MGC:37115
  • Feature Type
    protein coding gene
  • IDs
    MGI:2384924
    NCBI Gene: 216527
  • Gene Overview
    MyGene.info: CCM2
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr11:6546887-6596744 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      49858 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 4.45 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    CCM2, CCM2 scaffold protein
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CCM2, CCM2 scaffold protein
    Orthology source: HomoloGene, HGNC
  • Synonyms
    C7orf22, OSM, PP10187
  • Links
    NCBI Gene ID: 83605
    neXtProt AC: NX_Q9BSQ5
    UniProt: Q9BSQ5

  • Chr Location
    7p13; chr7:44999746-45076470 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 12868
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: CCM2
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Ccm2 mouse models; 1 with human CCM2 associations

Human Disease Mouse Models
      
IDs
View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    68 phenotypes from 7 alleles in 10 genetic backgrounds
    13 phenotypes from multigenic genotypes
    1 images
    23 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.
Homozygous null mice die during embryonic development with vasculature defects in the heart and placenta.
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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000005120 VEGA Gene Model | MGI Sequence Detail 49858 C57BL/6J ±  kb
    transcript OTTMUST00000011466 VEGA | MGI Sequence Detail 1858 Not Applicable  
    polypeptide OTTMUSP00000005338 VEGA | MGI Sequence Detail 453 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      359 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 67
      cDNA 66
      Primer pair 1

      Microarray probesets 5
    References
    more
    • Summaries
      All 53
      Developmental Gene Expression 8
      Diseases 4
      Gene Ontology 4
      Phenotypes 23
    • 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:250906 Choi JP, et al., Micro-CT Imaging Reveals Mekk3 Heterozygosity Prevents Cerebral Cavernous Malformations in Ccm2-Deficient Mice. PLoS One. 2016;11(8):e0160833

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    07/10/2018
    MGI 6.12
    The Jackson Laboratory