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Gene table of CCM2 :
CCM2 scaffolding protein
Gene-disease associations table
Disease ID
Disease name
Source of annotation with CCM2
OMIM link
Number of associated genes
genes
603284
CEREBRAL CAVERNOUS MALFORMATIONS 2
ClinVar, OMIM, HUMSAVAR
link to OMIM
1
CCM2
Download the gene annotation in CSV format
Annotation of the gene CCM2
Associated genes in ENSEMBL
ENSG00000136280
Associated proteins - SwissProt Accession ID
Q9BSQ5
Associated PDB IDs
4yl6
4ykc
4ykd
4wj7
4fqn
4y5o
4tvq
Cytogenetic Band
7p13
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
Associated GO terms for Molecular function
GO term
GO ID
GO IC
binding
GO:0005488
0.18
protein binding
GO:0005515
0.46