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Ccm2 cerebral cavernous malformation 2 [ Mus musculus (house mouse) ]

Gene ID: 216527, updated on 8-May-2016
Official Symbol
Ccm2provided by MGI
Official Full Name
cerebral cavernous malformation 2provided by MGI
Primary source
MGI:MGI:2384924
See related
Ensembl:ENSMUSG00000000378 Vega:OTTMUSG00000005120
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
BC029157
Orthologs
Location:
11; 11 A1
Exon count:
12
Annotation release Status Assembly Chr Location
105 current GRCm38.p3 (GCF_000001635.23) 11 NC_000077.6 (6546887..6596761)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 11 NC_000077.5 (6446890..6496764)

Chromosome 11 - NC_000077.6Genomic Context describing neighboring genes Neighboring gene myosin IG Neighboring gene small nucleolar RNA host gene 15 Neighboring gene predicted gene, 39574 Neighboring gene NAC alpha domain containing Neighboring gene transforming growth factor beta regulated gene 4 Neighboring gene small nucleolar RNA, H/ACA box 5C

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC37115

Gene Ontology Provided by MGI

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
blood vessel development IMP
Inferred from Mutant Phenotype
more info
PubMed 
blood vessel endothelial cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell-cell junction organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
endothelial cell development IGI
Inferred from Genetic Interaction
more info
PubMed 
endothelial cell development IMP
Inferred from Mutant Phenotype
more info
PubMed 
endothelial tube morphogenesis ISO
Inferred from Sequence Orthology
more info
PubMed 
heart development IGI
Inferred from Genetic Interaction
more info
PubMed 
heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
heart development ISO
Inferred from Sequence Orthology
more info
PubMed 
in utero embryonic development IGI
Inferred from Genetic Interaction
more info
PubMed 
in utero embryonic development IMP
Inferred from Mutant Phenotype
more info
PubMed 
inner ear development IDA
Inferred from Direct Assay
more info
PubMed 
multicellular organism growth IGI
Inferred from Genetic Interaction
more info
PubMed 
multicellular organism growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
pericardium development IGI
Inferred from Genetic Interaction
more info
PubMed 
pericardium development IMP
Inferred from Mutant Phenotype
more info
PubMed 
vasculature development IGI
Inferred from Genetic Interaction
more info
PubMed 
vasculature development IMP
Inferred from Mutant Phenotype
more info
PubMed 
vasculogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
vasculogenesis ISO
Inferred from Sequence Orthology
more info
 
venous blood vessel morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
venous blood vessel morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm ISO
Inferred from Sequence Orthology
more info
 
protein complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
cerebral cavernous malformations protein 2 homolog
Names
cerebral cavernous malformation 2 homolog
malcavernin
osmosensing scaffold for MEKK3

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001190343.1NP_001177272.1  cerebral cavernous malformations protein 2 homolog isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AL603787, AL646047
    Conserved Domains (2) summary
    cd13516
    Location:233328
    HHD_CCM2; harmonin-homology domain (harmonin_N_like domain) of malcavernin (CCM2)
    cd13166
    Location:10179
    PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe
  2. NM_001190344.1NP_001177273.1  cerebral cavernous malformations protein 2 homolog isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The resulting protein (isoform 3) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AL603787, AL646047
    Consensus CDS
    CCDS48751.1
    UniProtKB/TrEMBL
    F7AVU1
    Related
    ENSMUSP00000105344, OTTMUSP00000047623, ENSMUST00000109722, OTTMUST00000087553
    Conserved Domains (2) summary
    cd13516
    Location:227322
    HHD_CCM2; harmonin-homology domain (harmonin_N_like domain) of malcavernin (CCM2)
    cd13166
    Location:2173
    PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe
  3. NM_146014.3NP_666126.1  cerebral cavernous malformations protein 2 homolog isoform 1

    See identical proteins and their annotated locations for NP_666126.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL603787, AL646047
    Consensus CDS
    CCDS24422.1
    UniProtKB/Swiss-Prot
    Q8K2Y9
    Related
    ENSMUSP00000000388, OTTMUSP00000005338, ENSMUST00000000388, OTTMUST00000011466
    Conserved Domains (2) summary
    cd13516
    Location:291386
    HHD_CCM2; harmonin-homology domain (harmonin_N_like domain) of malcavernin (CCM2)
    cd13166
    Location:43237
    PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 105 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm38.p3 C57BL/6J

Genomic

  1. NC_000077.6 Reference GRCm38.p3 C57BL/6J

    Range
    6546887..6596761
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006514622.1XP_006514685.1  

    Conserved Domains (2) summary
    cd13516
    Location:285380
    HHD_CCM2; harmonin-homology domain (harmonin_N_like domain) of malcavernin (CCM2)
    cd13166
    Location:37231
    PTB_CCM2; Cerebral cavernous malformation 2 FERM domain C-lobe

Alternate Mm_Celera

Genomic

  1. AC_000033.1 Alternate Mm_Celera

    Range
    7046830..7080916
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)