C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: cerebral cavernous malformation 2
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000136280 CCM2 9606 + 7:44999475-45076469 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000258781 CCM2-001 45000185-45076467 protein_coding
  ENST00000381112 CCM2-201 45027634-45076469 protein_coding
  ENST00000461377 CCM2-003 44999475-45076352 processed_transcript
  ENST00000470837 CCM2-015 45072338-45073562 retained_intron
  ENST00000472223 CCM2-007 45027701-45070557 processed_transcript
  ENST00000474617 CCM2-016 45027672-45076431 protein_coding
  ENST00000475551 CCM2-002 45027026-45076451 protein_coding
  ENST00000476594 CCM2-013 45038261-45064622 processed_transcript
  ENST00000477605 CCM2-005 45067636-45076437 retained_intron
  ENST00000478169 CCM2-011 45027015-45064494 processed_transcript
  ENST00000478582 CCM2-012 45000189-45073519 processed_transcript
  ENST00000480382 CCM2-014 45068494-45072786 protein_coding
  ENST00000480658 CCM2-008 45027672-45073288 retained_intron
  ENST00000481194 CCM2-004 45064603-45076453 retained_intron
  ENST00000482714 CCM2-006 45027672-45071180 processed_transcript
  ENST00000488727 CCM2-010 45000249-45076414 nonsense_mediated_decay
  ENST00000492883 CCM2-009 45027672-45073166 retained_intron
  ENST00000541586 CCM2-202 45000188-45076469 protein_coding
  ENST00000544363 CCM2-203 45000188-45076469 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000258781ENST00000381112ENST00000461377ENST00000470837ENST00000474617ENST00000475551ENST00000477605ENST00000481194ENST00000488727ENST00000541586
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000258781 N/A N/A 0.141±0.00 2.510±0.00 N/A N/A 4.604±0.00 1.934±0.00 3.413±2.91 N/A 16.281±0.00 15.016±6.01 16.493±9.97 31.937±0.00
ENST00000381112 N/A N/A N/A N/A N/A 0.729±0.00 N/A N/A 0.389±0.00 N/A N/A N/A N/A N/A
ENST00000461377 N/A N/A 0.153±0.00 1.656±0.00 1.311±0.00 N/A 1.998±0.00 N/A N/A 1.297±0.00 N/A N/A N/A 3.912±0.00
ENST00000470837 N/A N/A N/A N/A N/A N/A N/A 2.255±0.00 N/A N/A N/A N/A N/A N/A
ENST00000474617 N/A N/A N/A N/A N/A N/A N/A N/A 0.547±0.00 N/A 4.173±0.00 N/A N/A N/A
ENST00000475551 N/A N/A 0.083±0.00 N/A N/A N/A N/A N/A 0.416±0.00 N/A 0.929±0.00 N/A N/A N/A
ENST00000477605 N/A N/A N/A N/A N/A 0.459±0.00 N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000481194 N/A 1.902±0.00 0.078±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000488727 5.261±0.00 7.801±0.00 N/A 10.260±0.00 12.509±0.00 10.499±0.00 3.131±0.00 9.847±0.00 10.366±0.00 11.644±0.00 1.954±0.00 2.075±0.00 4.716±0.00 13.220±0.00
ENST00000541586 10.151±0.00 19.841±0.00 N/A 6.645±0.00 18.769±0.00 9.399±0.00 N/A 8.569±0.00 25.479±0.00 16.175±0.00 N/A 11.007±4.75 13.241±0.71 11.940±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0000SD CIL_0000SD_0001 CGP 7:44962662-45076469
CIL_0000S8 CIL_0000S8_0001 CGP 7:44999475-45088914

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001568 IEA blood vessel development
GO:0001570 IMP vasculogenesis
GO:0001701 IEA in utero embryonic development
GO:0001885 IEA endothelial cell development
GO:0001944 IEA vasculature development
GO:0005515 IPI:IEA protein binding
GO:0005737 IDA cytoplasm
GO:0007229 TAS integrin-mediated signaling pathway
GO:0007507 IEA heart development
GO:0035264 IEA multicellular organism growth
GO:0043234 IEA protein complex
GO:0045216 IEA cell-cell junction organization
GO:0048839 IEA inner ear development
GO:0048845 IEA venous blood vessel morphogenesis
GO:0051403 TAS stress-activated MAPK cascade
GO:0060039 IEA pericardium development
GO:0060837 IEA blood vessel endothelial cell differentiation
GO:0061154 IMP endothelial tube morphogenesis

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000013705 ccm2 cerebral cavernous malformation 2 protein_coding Danio_rerio
ENSMUSG00000000378 Ccm2 cerebral cavernous malformation 2 protein_coding Mus_musculus

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