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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
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:6496887-6546744 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 4.45 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1349 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2384924
 protein coding gene Chr11:6496887-6546761 (+)
129S1/SvImJ MGP_129S1SvImJ_G0018026
 protein coding gene Chr11:3685552-3739541 (+)
A/J MGP_AJ_G0017999
 protein coding gene Chr11:3523875-3573876 (+)
AKR/J MGP_AKRJ_G0017963
 protein coding gene Chr11:3700530-3749821 (+)
BALB/cJ MGP_BALBcJ_G0017967
 protein coding gene Chr11:3532313-3583773 (+)
C3H/HeJ MGP_C3HHeJ_G0017780
 protein coding gene Chr11:3582816-3640475 (+)
C57BL/6NJ MGP_C57BL6NJ_G0018419
 protein coding gene Chr11:3782069-3838806 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0016077
 protein coding gene Chr11:3405384-3458767 (+)
CAST/EiJ MGP_CASTEiJ_G0017342
 protein coding gene Chr11:3571878-3624722 (+)
CBA/J MGP_CBAJ_G0017755
 protein coding gene Chr11:4208939-4264408 (+)
DBA/2J MGP_DBA2J_G0017865
 protein coding gene Chr11:3435552-3484975 (+)
FVB/NJ MGP_FVBNJ_G0017857
 protein coding gene Chr11:3456737-3508408 (+)
LP/J MGP_LPJ_G0017936
 protein coding gene Chr11:3755997-3807772 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0017883
 protein coding gene Chr11:3757884-3813985 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0018459
 protein coding gene Chr11:3722539-3781484 (+)
PWK/PhJ MGP_PWKPhJ_G0017122
 protein coding gene Chr11:3486427-3523010 (+)
SPRET/EiJ MGP_SPRETEiJ_G0016919
 protein coding gene Chr11:3657458-3727015 (+)
WSB/EiJ MGP_WSBEiJ_G0017396
 protein coding gene Chr11:3549866-3605684 (+)



Homology
more
  • Human Ortholog
    CCM2, CCM2 scaffold protein
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CCM2, CCM2 scaffold protein
  • Synonyms
    C7orf22, OSM, PP10187
  • Links
    NCBI Gene ID: 83605
    neXtProt AC: NX_Q9BSQ5
    UniProt: Q9BSQ5

  • Chr Location
    7p13; chr7:44999475-45076470 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Ccm2 mouse models; 1 with human CCM2 associations

Human Disease Mouse Models
      
IDs
 View 4 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    6 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    72 phenotypes from 8 alleles in 12 genetic backgrounds
    14 phenotypes from multigenic genotypes
    1 images
    35 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
less
  • All GO Annotations
    34
  • GO References
    7
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
    869
  • Tissues
    110
  • cDNA Data
    66
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000000378 Ensembl Gene Model | MGI Sequence Detail 49858 C57BL/6J ±  kb
    transcript ENSMUST00000000388 Ensembl | MGI Sequence Detail 1858 Not Applicable  
    polypeptide ENSMUSP00000000388 Ensembl | MGI Sequence Detail 453 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 67
      cDNA 66
      Primer pair 1

      Microarray probesets 5
    References
    more
    • Summaries
      All 68
      Developmental Gene Expression 10
      Diseases 5
      Gene Ontology 7
      Phenotypes 35
    • 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:334827 Grdseloff N, et al., Impaired retinoic acid signaling in cerebral cavernous malformations. Sci Rep. 2023 Apr 5;13(1):5572
    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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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory