Homo sapiens (human): 83605
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Entry
83605 CDS
T01001
Symbol
CCM2, C7orf22, OSM, PP10187
Name
(RefSeq) CCM2 scaffold protein
KO
K26416
cerebral cavernous malformations 2
Organism
hsa
Homo sapiens (human)
Pathway
hsa04520
Adherens junction
Disease
H00534
Cerebral cavernous malformation
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
CCM2_C
PID
DUF1722
HTH_48
ICAP-1_inte_bdg
Motif
Other DBs
NCBI-GeneID:
83605
NCBI-ProteinID:
NP_113631
OMIM:
607929
HGNC:
21708
Ensembl:
ENSG00000136280
UniProt:
Q9BSQ5
Structure
PDB
PDBj
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All DBs
Position
7:44999746..45076470
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AA seq
444 aa
AA seq
DB search
MEEEGKKGKKPGIVSPFKRVFLKGEKSRDKKAHEKVTERRPLHTVVLSLPERVEPDRLLS
DYIEKEVKYLGQLTSIPGYLNPSSRTEILHFIDNAKRAHQLPGHLTQEHDAVLSLSAYNV
KLAWRDGEDIILRVPIHDIAAVSYVRDDAAHLVVLKTAQDPGISPSQSLCAESSRGLSAG
SLSESAVGPVEACCLVILAAESKVAAEELCCLLGQVFQVVYTESTIDFLDRAIFDGASTP
THHLSLHSDDSSTKVDIKETYEVEASTFCFPESVDVGGASPHSKTISESELSASATELLQ
DYMLTLRTKLSSQEIQQFAALLHEYRNGASIHEFCINLRQLYGDSRKFLLLGLRPFIPEK
DSQHFENFLETIGVKDGRGIITDSFGRHRRALSTTSSSTTNGNRATGSSDDRSAPSEGDE
WDRMISDISSDIEALGCSMDQDSA
NT seq
1335 nt
NT seq
+upstream
nt +downstream
nt
atggaagaggagggcaagaagggcaagaagcctggaattgtctcgccatttaaacgagta
ttcctaaaaggtgaaaagagtagagataagaaagcccatgagaaggtgacagagaggcgc
cctctgcacactgtggtgttgtcattgcctgagcgcgtcgagccagacagactgctgagc
gactatattgagaaggaggtaaagtatttaggtcagttaacgtccataccaggatacctg
aatccctccagtaggactgaaatcctgcatttcatagacaatgcaaagagagcccaccag
cttccgggacacttgactcaggagcacgatgctgtgctcagcctgtctgcgtacaacgtc
aagctggcctggagggacggggaggatatcatcctcagggtgcccatccatgacatcgcc
gccgtctcctatgttcgggatgacgctgcacacctggtggtcctgaagacagcccaggac
ccagggatctcccccagccagagtctgtgtgcggaaagttccagaggcctcagtgcaggc
tccctgtcggagagtgcagttgggcccgtggaggcatgctgcctggtcatcctggctgca
gagagcaaggtcgctgcggaggagctttgctgtctgctaggccaggtcttccaggttgtt
tacacggagtccaccatcgactttctggacagagcgatatttgatggggcctctaccccg
acccaccacctgtccctgcacagcgatgactcttctacaaaagtggacattaaggagacc
tacgaggtggaagccagcactttctgcttccctgaatctgtggatgtgggtggtgcatca
ccccacagcaagaccatcagtgagagcgagctgagcgccagcgccactgagctgctgcag
gactacatgctgacgctgcgcaccaagctgtcatcacaggagatccagcagtttgcagca
ctgctgcacgagtaccgcaatggggcctctatccacgagttctgcatcaacctgcggcag
ctctacggggacagccgcaagttcctgctgcttggtctgaggcccttcatccctgagaag
gacagccagcacttcgagaacttcctggagaccattggcgtgaaggatggccgcggcatc
atcactgacagctttggcaggcaccggcgggccctgagcaccacatccagttccaccacc
aatgggaacagggccacgggcagctctgatgaccggtcggcaccctcagagggggatgag
tgggaccgcatgatctcggacatcagcagcgacattgaggcgctgggctgcagcatggac
caggactcagcatga
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