CCM2 | OmnibusX

I. Expression across cell types

Name	Number of supported studies	Average coverage
regulatory T cell	22 studies	25% ± 7%	Explore
natural killer cell	20 studies	22% ± 7%	Explore
endothelial cell	16 studies	24% ± 6%	Explore
B cell	15 studies	26% ± 8%	Explore
CD4-positive, alpha-beta T cell	13 studies	22% ± 7%	Explore
T cell	13 studies	21% ± 8%	Explore
CD8-positive, alpha-beta T cell	12 studies	21% ± 7%	Explore
macrophage	10 studies	31% ± 13%	Explore
microglial cell	9 studies	34% ± 12%	Explore
non-classical monocyte	8 studies	29% ± 15%	Explore
plasma cell	8 studies	28% ± 10%	Explore
CD16-negative, CD56-bright natural killer cell, human	7 studies	27% ± 6%	Explore
CD16-positive, CD56-dim natural killer cell, human	7 studies	24% ± 6%	Explore
myeloid cell	7 studies	24% ± 6%	Explore
oligodendrocyte	7 studies	24% ± 6%	Explore
naive thymus-derived CD4-positive, alpha-beta T cell	6 studies	24% ± 7%	Explore
effector memory CD8-positive, alpha-beta T cell	6 studies	28% ± 9%	Explore
monocyte	6 studies	27% ± 9%	Explore
dendritic cell	6 studies	26% ± 7%	Explore
fibroblast	6 studies	20% ± 2%	Explore
CD4-positive, alpha-beta memory T cell	5 studies	21% ± 2%	Explore
leukocyte	5 studies	25% ± 8%	Explore
naive thymus-derived CD8-positive, alpha-beta T cell	5 studies	22% ± 7%	Explore
mature NK T cell	5 studies	22% ± 7%	Explore
epithelial cell	5 studies	27% ± 14%	Explore
adipocyte	5 studies	19% ± 4%	Explore
astrocyte	5 studies	28% ± 6%	Explore
CD8-positive, alpha-beta memory T cell	5 studies	22% ± 5%	Explore
neuron	4 studies	27% ± 9%	Explore
mast cell	4 studies	23% ± 6%	Explore
lymphocyte	4 studies	38% ± 13%	Explore
T follicular helper cell	4 studies	17% ± 1%	Explore
GABAergic neuron	4 studies	32% ± 11%	Explore
glutamatergic neuron	4 studies	45% ± 17%	Explore
oligodendrocyte precursor cell	4 studies	23% ± 6%	Explore
endothelial cell of lymphatic vessel	4 studies	21% ± 3%	Explore
pericyte	4 studies	23% ± 7%	Explore
basal cell	4 studies	30% ± 17%	Explore
plasmacytoid dendritic cell	4 studies	17% ± 1%	Explore
classical monocyte	3 studies	29% ± 11%	Explore
exhausted T cell	3 studies	28% ± 13%	Explore
plasmablast	3 studies	33% ± 13%	Explore
retinal ganglion cell	3 studies	49% ± 22%	Explore
precursor B cell	3 studies	24% ± 1%	Explore
mononuclear phagocyte	3 studies	24% ± 6%	Explore
mucosal invariant T cell	3 studies	24% ± 8%	Explore
effector CD4-positive, alpha-beta T cell	3 studies	23% ± 3%	Explore
effector CD8-positive, alpha-beta T cell	3 studies	17% ± 1%	Explore
hepatocyte	3 studies	42% ± 20%	Explore
type I pneumocyte	3 studies	19% ± 4%	Explore
effector memory CD4-positive, alpha-beta T cell	3 studies	27% ± 12%	Explore
abnormal cell	3 studies	26% ± 6%	Explore
alveolar macrophage	3 studies	25% ± 10%	Explore
transit amplifying cell	3 studies	37% ± 28%	Explore
interneuron	3 studies	29% ± 15%	Explore
naive B cell	3 studies	18% ± 1%	Explore

II. Expression across tissues

Name	Number of supported studies	Average coverage
peripheral blood	7 studies	23% ± 8%	Explore
brain	7 studies	31% ± 13%	Explore
liver	4 studies	24% ± 8%	Explore
lung	3 studies	22% ± 4%	Explore
adipose	3 studies	21% ± 1%	Explore

Tissue	GTEx Coverage	GTEx Average TPM	GTEx Number of samples	TCGA Coverage	TCGA Average TPM	TCGA Number of samples
liver	100%	3961.85	226 / 226	100%	23.29	406 / 406
uterus	100%	2043.89	170 / 170	100%	29.45	459 / 459
esophagus	100%	2434.73	1444 / 1445	100%	16.26	183 / 183
brain	100%	6341.41	2640 / 2642	100%	28.20	705 / 705
thymus	100%	2000.80	652 / 653	100%	32.29	605 / 605
prostate	100%	2480.96	245 / 245	100%	14.61	501 / 502
skin	100%	2243.48	1805 / 1809	100%	27.34	472 / 472
kidney	100%	2013.93	89 / 89	100%	20.19	898 / 901
lung	100%	2976.16	576 / 578	100%	24.65	1154 / 1155
adrenal gland	100%	3344.91	258 / 258	100%	26.47	229 / 230
breast	100%	2542.01	459 / 459	99%	20.13	1112 / 1118
intestine	100%	2747.29	966 / 966	99%	19.20	524 / 527
bladder	100%	2624.52	21 / 21	99%	25.40	500 / 504
stomach	99%	1767.43	357 / 359	100%	15.95	285 / 286
ovary	99%	1582.02	179 / 180	99%	12.67	426 / 430
pancreas	95%	1310.15	313 / 328	100%	24.37	178 / 178
adipose	100%	2888.85	1204 / 1204	0%	0	0 / 0
eye	0%	0	0 / 0	100%	17.41	80 / 80
lymph node	0%	0	0 / 0	100%	85.26	29 / 29
spleen	100%	5705.46	241 / 241	0%	0	0 / 0
tonsil	0%	0	0 / 0	100%	31.36	45 / 45
ureter	0%	0	0 / 0	100%	19.61	1 / 1
muscle	100%	2455.61	800 / 803	0%	0	0 / 0
blood vessel	100%	2318.53	1330 / 1335	0%	0	0 / 0
peripheral blood	99%	6982.16	920 / 929	0%	0	0 / 0
heart	98%	1797.82	842 / 861	0%	0	0 / 0
abdomen	0%	0	0 / 0	0%	0	0 / 0
bone marrow	0%	0	0 / 0	0%	0	0 / 0
diaphragm	0%	0	0 / 0	0%	0	0 / 0
gingiva	0%	0	0 / 0	0%	0	0 / 0
nasal cavity	0%	0	0 / 0	0%	0	0 / 0
nasopharynx	0%	0	0 / 0	0%	0	0 / 0
nose	0%	0	0 / 0	0%	0	0 / 0
placenta	0%	0	0 / 0	0%	0	0 / 0
spinal column	0%	0	0 / 0	0%	0	0 / 0

III. Associated gene sets

GO_0001701	Biological process	in utero embryonic development
GO_0060039	Biological process	pericardium development
GO_0007507	Biological process	heart development
GO_0035264	Biological process	multicellular organism growth
GO_0001570	Biological process	vasculogenesis
GO_0048839	Biological process	inner ear development
GO_0045765	Biological process	regulation of angiogenesis
GO_0045216	Biological process	cell-cell junction organization
GO_0001885	Biological process	endothelial cell development
GO_0051403	Biological process	stress-activated MAPK cascade
GO_0007229	Biological process	integrin-mediated signaling pathway
GO_0061154	Biological process	endothelial tube morphogenesis
GO_0003158	Biological process	endothelium development
GO_0060837	Biological process	blood vessel endothelial cell differentiation
GO_0048845	Biological process	venous blood vessel morphogenesis
GO_0005739	Cellular component	mitochondrion
GO_0032991	Cellular component	protein-containing complex
GO_0005737	Cellular component	cytoplasm
GO_0005515	Molecular function	protein binding

IV. Literature review

[source]

Gene name	CCM2
Protein name	CCM2 scaffold protein Cerebral cavernous malformations 2 protein (Malcavernin) CCM2 protein
Synonyms	PP10187 C7orf22
Description	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). .
Accessions	ENST00000488727.5 ENST00000648329.1 H7C516 ENST00000541586.5 [Q9BSQ5-4] A0A3B3IRS0 ENST00000480382.1 Q6P456 ENST00000475551.5 C9JUH3 E9PEC4 Q9BSQ5 ENST00000258781.11 [Q9BSQ5-1] ENST00000474617.1 ENST00000544363.5 [Q9BSQ5-3] A0A0A0MT72 ENST00000381112.7 [Q9BSQ5-2]

CCM2 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

IV. Literature review