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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
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:152907875-152923655 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 75.41 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    647 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 Chr2:152907857-152923655 (+)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CCM2L, CCM2 like scaffold protein
  • Synonyms
    C20orf160, dJ310O13.5
  • Links
    NCBI Gene ID: 140706
    neXtProt AC: NX_Q9NUG4
    UniProt: Q9NUG4

  • Chr Location
    20q11.21; chr20:32010438-32032180 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
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  • 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
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 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
    12
  • GO References
    2
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

No experimental evidence to support Cellular Component annotation, following literature review. See J:73796.
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
    777
  • Tissues
    32
  • cDNA Data
    6
  • Literature Summary
    1
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000027474 Ensembl Gene Model | MGI Sequence Detail 15781 C57BL/6J ±  kb
transcript ENSMUST00000238488 Ensembl | MGI Sequence Detail 2269 Not Applicable  
polypeptide ENSMUSP00000158754 Ensembl | MGI Sequence Detail 564 Not Applicable  
For the selected sequence
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000060110 cerebral cavernous malformations 2 protein-like
    (term hierarchy)
  • InterPro Domains
    IPR026159 Cerebral cavernous malformations 2
    IPR032375 Cerebral cavernous malformations 2, harmonin-homology domain
    IPR011993 PH-like domain superfamily
Molecular
Reagents
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  • All nucleic 13
    cDNA 7
    Primer pair 4
    Other 2

    Microarray probesets 5
References
more
  • Summaries
    All 24
    Developmental Gene Expression 1
    Gene Ontology 2
    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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory