DegronMD - Q9BSQ5(CCM2)

FUNCTION: Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity. May act through the stabilization of endothelial cell junctions (By similarity). May function as a scaffold protein for MAP2K3-MAP3K3 signaling. Seems to play a major role in the modulation of MAP3K3-dependent p38 activation induced by hyperosmotic shock (By similarity). {ECO:0000250}.

GO - Biological processes (BP): blood vessel endothelial cell differentiation [GO:0060837]; cell-cell junction organization [GO:0045216]; endothelial cell development [GO:0001885]; endothelial tube morphogenesis [GO:0061154]; endothelium development [GO:0003158]; heart development [GO:0007507]; inner ear development [GO:0048839]; ... View more >>

GO - Molecular function (MF):

GO - Cellular component (CC): cytoplasm [GO:0005737]; mitochondrion [GO:0005739]; protein-containing complex [GO:0032991]

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Mutation	Sample	Cancer	Dataset	Degron hit	Class	Location	Type	Impact score
p.R46C	DO8514	COAD	ICGC	ERRPLHTVV	DEG_APCC_DBOX_1	38:46	Mutation altering degron motif	0.8301
p.R46C	DO41199	UCEC	ICGC	ERRPLHTVV	DEG_APCC_DBOX_1	38:46	Mutation altering degron motif	0.8301
p.S42A	Daudi	haematopoietic and lymphoid tissue	COSMIC	ERRPLHTVV	DEG_APCC_DBOX_1	38:46	Mutation altering degron motif	0.7588
p.H46Y	DO222576	COCA	ICGC	ERRPLHTVV	DEG_APCC_DBOX_1	38:46	Mutation altering degron motif	0.7229
p.G394D	TCGA-BR-8078	STAD	TCGA	ALSTT	DEG_SPOP_SBC_1	391:395	Mutation altering degron motif	0.7198
p.T393A	G-MEL	skin	COSMIC	ALSTT	DEG_SPOP_SBC_1	391:395	Mutation altering degron motif	0.7139
p.I393T	SIDM01587	Bladder Carcinoma	GDSC	ALSTT	DEG_SPOP_SBC_1	391:395	Mutation altering degron motif	0.7078
p.E46K	SIDM00150	Colorectal Carcinoma	GDSC	ERRPLHTVV	DEG_APCC_DBOX_1	38:46	Mutation altering degron motif	0.7022
p.E46K	KM12	large intestine	COSMIC	ERRPLHTVV	DEG_APCC_DBOX_1	38:46	Mutation altering degron motif	0.7022
p.V41A	TCGA-A5-A0G2	UCEC	TCGA	ERRPLHTVV	DEG_APCC_DBOX_1	38:46	Mutation altering degron motif	0.6936
p.S384C	ACH-000945	Lung Cancer	CCLE	ALSTT	DEG_SPOP_SBC_1	391:395	Mutation blocking phosphorylation signal	0.5833
p.S384C	NCI-H650	lung	COSMIC	ALSTT	DEG_SPOP_SBC_1	391:395	Mutation blocking phosphorylation signal	0.5833
p.P37L	TCGA-17-Z061	LUAD	TCGA	ERRPLHTVV	DEG_APCC_DBOX_1	38:46	Mutation rewiring degron network	0.3056
p.V47I	DO234204	ESAD	ICGC	ERRPLHTVV	DEG_APCC_DBOX_1	38:46	Mutation rewiring degron network	0.3056
p.V47F	DO228905	LICA	ICGC	ERRPLHTVV	DEG_APCC_DBOX_1	38:46	Mutation rewiring degron network	0.3056
p.S36L	SIDM02077	Colorectal Carcinoma	GDSC	ERRPLHTVV	DEG_APCC_DBOX_1	38:46	Mutation rewiring degron network	0.2778
p.S48A	ACH-000786	Lymphoma	CCLE	ERRPLHTVV	DEG_APCC_DBOX_1	38:46	Mutation rewiring degron network	0.2778
p.S48A	Daudi	haematopoietic and lymphoid tissue	COSMIC	ERRPLHTVV	DEG_APCC_DBOX_1	38:46	Mutation rewiring degron network	0.2778
p.Q49H	DO11016	GBM	ICGC	ERRPLHTVV	DEG_APCC_DBOX_1	38:46	Mutation rewiring degron network	0.25
p.Q49H	DO37971	SKCM	ICGC	ERRPLHTVV	DEG_APCC_DBOX_1	38:46	Mutation rewiring degron network	0.25

Showing 1 to 20 of 39 entries

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Kaplan plot for CCM2 in

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*NOTE: the Kaplan plots were collected from OncoLnc

DegronMD: protein-targeted degradation, mutation and drug response to degrons

CCM2

UniProt ID: Q9BSQ5

Entrez ID: 83605

Protein name: Cerebral cavernous malformations 2 protein (Malcavernin)

External links: UniprotKB HGNC RefSeq COSMIC

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Kaplan plot for CCM2 in