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Ccm2l Gene Detail
Summary
  • Symbol
    Ccm2l
  • Name
    cerebral cavernous malformation 2-like
  • Synonyms
    BC020535, MGC:19360
  • Feature Type
    protein coding gene
  • IDs
    MGI:2385159
    NCBI Gene: 228788
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:153065955-153081735 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 75.41 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    295 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2385159
protein coding gene Chr2:153065933-153081735 (+)
129S1/SvImJ MGP_129S1SvImJ_G0026686
protein coding gene Chr2:157674610-157692945 (+)
A/J MGP_AJ_G0026652
protein coding gene Chr2:151373065-151390106 (+)
AKR/J MGP_AKRJ_G0026622
protein coding gene Chr2:155790725-155809647 (+)
BALB/cJ MGP_BALBcJ_G0026661
protein coding gene Chr2:151682655-151699038 (+)
C3H/HeJ MGP_C3HHeJ_G0026404
protein coding gene Chr2:156167099-156183712 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027110
protein coding gene Chr2:162247891-162265818 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024481
protein coding gene Chr2:144956181-144972471 (+)
CAST/EiJ MGP_CASTEiJ_G0025865
protein coding gene Chr2:156423046-156439348 (+)
CBA/J MGP_CBAJ_G0026382
protein coding gene Chr2:168213074-168232549 (+)
DBA/2J MGP_DBA2J_G0026518
protein coding gene Chr2:150580200-150597807 (+)
FVB/NJ MGP_FVBNJ_G0026484
protein coding gene Chr2:149044438-149060869 (+)
LP/J MGP_LPJ_G0026622
protein coding gene Chr2:157822875-157841166 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026505
protein coding gene Chr2:172279901-172297205 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027166
protein coding gene Chr2:155688914-155706304 (+)
PWK/PhJ MGP_PWKPhJ_G0025599
protein coding gene Chr2:150111796-150129573 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025402
protein coding gene Chr2:154522223-154541185 (+)
WSB/EiJ MGP_WSBEiJ_G0025935
protein coding gene Chr2:156590737-156608281 (+)



Homology
more
  • Human Ortholog
    CCM2L, CCM2 like scaffold protein
  • Vertebrate Orthologs
    8
  • Human Ortholog
    CCM2L, CCM2 like scaffold protein
    Orthology source: HomoloGene, HGNC
  • Synonyms
    C20orf160, dJ310O13.5
  • Links
    NCBI Gene ID: 140706
    neXtProt AC: NX_Q9NUG4
    UniProt: Q9NUG4

  • Chr Location
    20q11.21; chr20:32010379-32032182 (+)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    6 phenotypes from 1 allele in 1 genetic background
    9 phenotypes from multigenic genotypes
    4 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a reporter allele exhibit delayed wound healing and show impaired tumor growth, poor tumor vascularization, and decreased metastatic potential following injection of Lewis Lung Carcinoma (LLC) cells.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000027474 Ensembl Gene Model | MGI Sequence Detail 15781 C57BL/6J ±  kb
transcript ENSMUST00000109800 Ensembl | MGI Sequence Detail 2158 Not Applicable  
polypeptide ENSMUSP00000105425 Ensembl | MGI Sequence Detail 481 Not Applicable  
For the selected sequence
Protein
Information
less
  • UniProt
    2 Sequences
  • InterPro Domains
    IPR026159 Cerebral cavernous malformations 2
    IPR011993 PH-like domain superfamily
Molecular
Reagents
less
  • All nucleic 7
    cDNA 7

    Microarray probesets 5
References
more
  • Summaries
    All 22
    Developmental Gene Expression 1
    Gene Ontology 1
    Phenotypes 4
  • Earliest
    J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
  • Latest
    J:187714 Zheng X, et al., Dynamic regulation of the cerebral cavernous malformation pathway controls vascular stability and growth. Dev Cell. 2012 Aug 14;23(2):342-55

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)
Citing These Resources
Funding Information
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last database update
06/11/2019
MGI 6.14
The Jackson Laboratory