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
ENSMUSG00000000378 Ccm2 10090 + 11:6546887-6596744 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000000388 Ccm2-001 6546887-6596744 protein_coding
  ENSMUST00000109721 Ccm2-201 6561230-6596742 protein_coding
  ENSMUST00000109722 Ccm2-002 6560183-6596734 protein_coding
  ENSMUST00000144293 Ccm2-003 6561121-6562952 processed_transcript
  ENSMUST00000159007 Ccm2-005 6546910-6589474 protein_coding
  ENSMUST00000160633 Ccm2-006 6561134-6593070 protein_coding
  ENSMUST00000161501 Ccm2-004 6561112-6593133 nonsense_mediated_decay
  ENSMUST00000161667 Ccm2-007 6593048-6594269 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000000388ENSMUST00000109721ENSMUST00000160633
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000000388 9.037±3.11 N/A 27.111±2.41 17.806±5.34 7.635±1.38 4.193±0.35 7.326±0.72 6.901±2.90 12.445±9.46 5.557±0.73 6.939±1.33 10.980±4.03 29.060±10.02 3.322±1.17
ENSMUST00000109721 29.763±6.10 22.375±0.86 N/A 10.688±6.73 46.049±24.73 30.070±2.06 7.310±3.05 11.453±4.59 12.792±2.25 28.145±0.47 3.392±0.64 37.616±15.08 16.783±4.16 2.183±1.71
ENSMUST00000160633 N/A N/A N/A N/A N/A N/A N/A N/A 5.018±0.00 N/A N/A 7.254±0.00 14.289±0.00 N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0000SD CIL_0000SD_0002 CGP 11:6506548-6596744
CIL_0000S8 CIL_0000S8_0002 CGP 11:6546887-6606053

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

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000013705 ccm2 cerebral cavernous malformation 2 protein_coding Danio_rerio
ENSG00000136280 CCM2 cerebral cavernous malformation 2 protein_coding Homo_sapiens

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