Property Summary

NCBI Gene PubMed Count 55
Grant Count 85
R01 Count 53
Funding $5,836,069.22
PubMed Score 65.57
PubTator Score 72.37

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q9BSQ5 A4D2L4 B3KUV0 D3DVL4 E9PDJ3 F5H0E1 F5H551 Q71RE5 Q8TAT4
Symbols OSM
C7orf22
PP10187

Gene

PDB

4TVQ   4FQN   4WJ7   4Y5O   4YKC   4YKD   4YL6  

Gene RIF (40)

PMID Text
26356566 Studies suggest that the 3 proteins of the Cerebral Cavernous Malformations (CCM) complex KRIT1/CCM1, CCM2/malcavernin and CCM3/PDCD10 not only require one another for reciprocal stabilization, but also act as a platform for signal transduction.
25869611 a new mutation in MGC4607/CCM2 was identified in several family members with spinal and cutaneous angiomas.
25825518 both CCM2 and CCM3 are required for normal endothelial cell network formation.
25525273 Data find that several disease-associated missense mutations in CCM2 have the potential to interrupt the KRIT1-CCM2 interaction by destabilizing the CCM2 PTB domain and that a KRIT1 mutation also disrupts this interaction
24643410 Cerebral cavernous malformation(CCM)s develop because of loss of heart of glass (HEG)-independent CCM2 signaling in murine transgenic endothelium of central nervous system after birth.
24466005 Prevalence, frequency and characterization of CCM1, CCM2 and CCM3 variants in cerebral cavernous malformation Spanish patients.
24058906 The identification of other four new mutations in 40 sporadic patients with either single or multiple cerebral cavernous malformations, is reported.
24007869 DNA sequencing and deletion/duplication testing of the CCM1, CCM2, and CCM3 genes in the proband revealed a CCM1 c.601CNG mutation.
23485406 CCM2 mutations are associated with cerebral cavernous malformation in some Japanese patients.
23266514 structural characterization of CCM2
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AA Sequence

MEEEGKKGKKPGIVSPFKRVFLKGEKSRDKKAHEKVTERRPLHTVVLSLPERVEPDRLLSDYIEKEVKYL      1 - 70
GQLTSIPGYLNPSSRTEILHFIDNAKRAHQLPGHLTQEHDAVLSLSAYNVKLAWRDGEDIILRVPIHDIA     71 - 140
AVSYVRDDAAHLVVLKTAQDPGISPSQSLCAESSRGLSAGSLSESAVGPVEACCLVILAAESKVAAEELC    141 - 210
CLLGQVFQVVYTESTIDFLDRAIFDGASTPTHHLSLHSDDSSTKVDIKETYEVEASTFCFPESVDVGGAS    211 - 280
PHSKTISESELSASATELLQDYMLTLRTKLSSQEIQQFAALLHEYRNGASIHEFCINLRQLYGDSRKFLL    281 - 350
LGLRPFIPEKDSQHFENFLETIGVKDGRGIITDSFGRHRRALSTTSSSTTNGNRATGSSDDRSAPSEGDE    351 - 420
WDRMISDISSDIEALGCSMDQDSA                                                  421 - 444
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Text Mined References (57)

PMID Year Title
26356566 2015 The cerebral cavernous malformations proteins.
25869611 2015 A Novel MGC4607/CCM2 Gene Mutation Associated with Cerebral Spinal and Cutaneous Cavernous Angiomas.
25825518 2015 CCM2-CCM3 interaction stabilizes their protein expression and permits endothelial network formation.
25814554 2015 Phospho-tyrosine dependent protein-protein interaction network.
25525273 2015 Structural basis for the disruption of the cerebral cavernous malformations 2 (CCM2) interaction with Krev interaction trapped 1 (KRIT1) by disease-associated mutations.
24643410 2014 Cerebral cavernous malformations arise independent of the heart of glass receptor.
24466005 2014 Mutation prevalence of cerebral cavernous malformation genes in Spanish patients.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24058906 2013 Sporadic cerebral cavernous malformations: report of further mutations of CCM genes in 40 Italian patients.
24007869 2013 Identification of a c.601C>G mutation in the CCM1 gene in a kindred with multiple skin, spinal and cerebral cavernous malformations.
More...