| Type | Description |
|---|---|
| Definition | CCM2 scaffold protein |
| Date | Results | Publications |
|---|---|---|
| 2020-10-31 13:12:00 | CCM1 and CCM2 variants in patients with cerebral cavernous malformation in an ethnically Chinese population in Taiwan. | 31455779 |
| 2020-10-24 14:08:00 | Emerging roles of CCM genes during tumorigenesis with potential application as novel biomarkers across major types of cancers. | 32186778 |
| 2019-11-02 10:51:00 | showed a population-specific mutational and clinical spectrum of multiple CCMs. These findings broaden the mutational spectrum in CCMs and highlight the importance of screening for deletions in the CCM genes in patients with multiple CCMs | 29787619 |
| 2019-10-12 10:04:00 | Sanger sequencing of CCM2 in patients with cerebral cavernous malformation (CCM) identified many mutations, some of which are germline mutations in a cohort of Italian patients. | 30161288 |
| 2019-10-05 10:10:00 | Study revealed a heterozygous 24 kB inversion including exon 1 of CCM2 in a 12-year-old boy with familial cerebral cavernous malformation. | 29197946 |
| Type | IDs |
|---|---|
| Synonymous | C7orf22, OSM, PP10187 |
| Gene |
UniProtKB-ID:
CCM2_HUMAN,
B7Z8D5_HUMAN
UniprotKB:
Q9BSQ5,
B7Z8D5
UniParc:
UPI0000D4E503,
UPI000006CE51,
UPI0000563237,
UPI00019152A5,
UPI0000D4D4E6
EMBL:
BC025958,
AK303216,
AF370392,
CH471128,
AC013416,
BC004903,
BC016832,
AC004847,
BC008859,
AK098005,
CH236960
Ensembl:
ENSG00000136280
KO:
hsa:83605
|
| Nucleutide sequences |
EMBL-CDS:
AAH04903.1,
EAW61061.1,
EAW61064.1,
BAG53562.1,
AAH08859.1,
AAQ15228.1,
EAL23746.1,
AAH16832.1,
AAH25958.1,
BAH13921.1
Gene_ORFName:
PP10187
Ensembl_TRS:
ENST00000258781,
ENST00000544363,
ENST00000381112,
ENST00000541586
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000370503,
ENSP00000438035,
ENSP00000258781,
ENSP00000444725
RefSeq:
XP_016868160.1,
NP_001025006.1,
NP_001350387.1,
NP_001350388.1,
XP_006715848.1,
NP_001161406.1,
XP_016868162.1,
XP_016868161.1,
NP_113631.1,
XP_011513865.1,
XP_006715849.1,
NP_001161407.1,
XP_011513863.1
|
| Others |
UniRef100:
UniRef100_B7Z8D5,
UniRef100_Q9BSQ5
UniRef90:
UniRef90_B7Z8D5,
UniRef90_Q9BSQ5
UniRef50:
UniRef50_Q9BSQ5,
UniRef50_A0A2I3N1B1
UniGene:
Hs.148272
CCDS:
CCDS34630.1,
CCDS5500.1,
CCDS55109.1,
CCDS55108.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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