CCM2
entrez
83605
canonical
uniprot
Q9BSQ5
canonical
ensembl
ENSG00000136280
resolver
ensp
ENSP00000258781
resolver
ensp
ENSP00000370503
resolver
ensp
ENSP00000417251
resolver
ensp
ENSP00000419474
resolver
ensp
ENSP00000438035
resolver
ensp
ENSP00000444725
resolver
ensp
ENSP00000530945
resolver
ensp
ENSP00000530947
resolver
ensp
ENSP00000687277
resolver
genesymbol
CCM2
resolver
genesymbol_syn
C7orf22
resolver
hgnc
HGNC:21708
resolver
uniprot
A4D2L4
resolver
uniprot
B3KUV0
resolver
uniprot
B7Z8D5
resolver
uniprot
D3DVL4
resolver
uniprot
E9PDJ3
resolver
uniprot
F5H0E1
resolver
uniprot
F5H551
resolver
uniprot
Q71RE5
resolver
uniprot
Q8TAT4
resolver
uniprot_entry
B7Z8D5_HUMAN
resolver
uniprot_entry
CCM2_HUMAN
resolver
uniprot_sec
A4D2L4
resolver
uniprot_sec
B3KUV0
resolver
uniprot_sec
D3DVL4
resolver
uniprot_sec
E9PDJ3
resolver
uniprot_sec
F5H0E1
resolver
uniprot_sec
F5H551
resolver
uniprot_sec
Q71RE5
resolver
uniprot_sec
Q8TAT4
resolver
amino_acid_sequence
MEEEGKKGKKPGIVSPFKRVFLKGEKSRDKKAHEKVTERRPLHTVVLSLPERVEPDRLLSDYIEKEVKYLGQLTSIPGYLNPSSRTEILHFIDNAKRAHQLPGHLTQEHDAVLSLSAYNVKLAWRDGEDIILRVPIHDIAAVSYVRDDAAHLVVLKTAQDPGISPSQSLCAESSRGLSAGSLSESAVGPVEACCLVILAAESKVAAEELCCLLGQVFQVVYTESTIDFLDRAIFDGASTPTHHLSLHSDDSSTKVDIKETYEVEASTFCFPESVDVGGASPHSKTISESELSASATELLQDYMLTLRTKLSSQEIQQFAALLHEYRNGASIHEFCINLRQLYGDSRKFLLLGLRPFIPEKDSQHFENFLETIGVKDGRGIITDSFGRHRRALSTTSSSTTNGNRATGSSDDRSAPSEGDEWDRMISDISSDIEALGCSMDQDSA
uniprot
proteins
disease_involvement
DISEASE: Cerebral cavernous malformations 2 (CCM2) [MIM:603284]: A form of cerebral cavernous malformations, a congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. CCM2 inheritance is autosomal dominant. {ECO:0000269|PubMed:14624391, ECO:0000269|PubMed:14740320, ECO:0000269|PubMed:22415356}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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}.
uniprot
proteins
mass_dalton
48837
uniprot
proteins
protein_family
CCM2 family
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14624391
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14740320
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15498874
uniprot
proteins
pubmed
20489202
uniprot
proteins
pubmed
22415356
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23266514
uniprot
proteins
pubmed
24275569
uniprot
proteins
sequence_length
444
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
uniprot
proteins