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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. CCM2, cerebral cavernous malformation 2
Sequence ID:NM_001029835
NM_001167934
NM_001167935
NM_031443
NR_030770
RefSeqGene ID:NG_016295
Entrez Gene ID:83605
Ensembl ID:ENSG00000136280

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data

  • This gene is found in these cDNA libraries from the following tissue types:
    adrenal cortex, b-cell, bone, bone marrow, brain, cerebellum, cerebrum, cervix, colon, embryonic tissue, endocrine, esophagus, eye, fetus, gastrointestinal tract, heart, kidney, liver, lung, lymph node, lymphoreticular, mammary gland, muscle, nervous, ovary, pancreas, pancreatic islet, parathyroid, placenta, pooled tissue, prostate, salivary gland, skin, spleen, stem cell, stomach, synovium, t-cell, testis, thymus, thyroid, uncharacterized tissue, uterus, vascular
  • SAGE Anatomic Viewer
  • SAGE Digital Northern

  • Monochromatic SAGE/cDNA Virtual Northern

  • Two-dimensional array displays (similar expression pattern in NCI60 microarray data or SAGE data)

Associated Diseases (from OMIM)

DiseaseOther Genes
CEREBRAL CAVERNOUS MALFORMATIONS-2 

Cytogenetic Location (from UniGene)

Cytogenetic Location:7p13Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:7: 45039786 - 45116041

 Exon Info From UCSC:
NM_001029835
NM_001167934
NM_001167935
NM_031443

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
2924210Full LengthBC016832cerebral cavernous malformation 2
3501896Full LengthBC004903cerebral cavernous malformation 2
4124185Full LengthBC008859cerebral cavernous malformation 2
4587331IncompleteBC025958cerebral cavernous malformation 2

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_001029835 NP_001025006    
NM_001167934 NP_001161406    
NM_001167935 NP_001161407    
NM_031443 NP_113631 Q9BSQ5  

Related Sequences

 
mRNAGenPeptSwissProt
BC004903 AAH04903 Q9BSQ5
BC008859 AAH08859 Q9BSQ5
BC016832 AAH16832 Q9BSQ5
BC025958 AAH25958 Q9BSQ5
BC063663 AAH63663 Q6P456
AF370392 AAQ15228 Q9BSQ5
JF432160 ADZ15377  
AK098005 BAG53562 B3KUV0
AK298671 BAH12842 B7Z5A6
AK303534 BAH13982 B7Z8J6

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens CCM2 NP_001025006 M.musculus Ccm2 216527 Gene Info NP_666126 94
R.norvegicus Ccm2 305505   NP_001119747 94

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)