KEGG   Homo sapiens (human): 83605
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
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04520 Adherens junction
    83605 (CCM2)
SSDB
Motif
Pfam: CCM2_C PID DUF1722 HTH_48 ICAP-1_inte_bdg
Other DBs
NCBI-GeneID: 83605
NCBI-ProteinID: NP_113631
OMIM: 607929
HGNC: 21708
Ensembl: ENSG00000136280
UniProt: Q9BSQ5
Structure
Position
7:44999746..45076470
AA seq 444 aa
MEEEGKKGKKPGIVSPFKRVFLKGEKSRDKKAHEKVTERRPLHTVVLSLPERVEPDRLLS
DYIEKEVKYLGQLTSIPGYLNPSSRTEILHFIDNAKRAHQLPGHLTQEHDAVLSLSAYNV
KLAWRDGEDIILRVPIHDIAAVSYVRDDAAHLVVLKTAQDPGISPSQSLCAESSRGLSAG
SLSESAVGPVEACCLVILAAESKVAAEELCCLLGQVFQVVYTESTIDFLDRAIFDGASTP
THHLSLHSDDSSTKVDIKETYEVEASTFCFPESVDVGGASPHSKTISESELSASATELLQ
DYMLTLRTKLSSQEIQQFAALLHEYRNGASIHEFCINLRQLYGDSRKFLLLGLRPFIPEK
DSQHFENFLETIGVKDGRGIITDSFGRHRRALSTTSSSTTNGNRATGSSDDRSAPSEGDE
WDRMISDISSDIEALGCSMDQDSA
NT seq 1335 nt   +upstreamnt  +downstreamnt
atggaagaggagggcaagaagggcaagaagcctggaattgtctcgccatttaaacgagta
ttcctaaaaggtgaaaagagtagagataagaaagcccatgagaaggtgacagagaggcgc
cctctgcacactgtggtgttgtcattgcctgagcgcgtcgagccagacagactgctgagc
gactatattgagaaggaggtaaagtatttaggtcagttaacgtccataccaggatacctg
aatccctccagtaggactgaaatcctgcatttcatagacaatgcaaagagagcccaccag
cttccgggacacttgactcaggagcacgatgctgtgctcagcctgtctgcgtacaacgtc
aagctggcctggagggacggggaggatatcatcctcagggtgcccatccatgacatcgcc
gccgtctcctatgttcgggatgacgctgcacacctggtggtcctgaagacagcccaggac
ccagggatctcccccagccagagtctgtgtgcggaaagttccagaggcctcagtgcaggc
tccctgtcggagagtgcagttgggcccgtggaggcatgctgcctggtcatcctggctgca
gagagcaaggtcgctgcggaggagctttgctgtctgctaggccaggtcttccaggttgtt
tacacggagtccaccatcgactttctggacagagcgatatttgatggggcctctaccccg
acccaccacctgtccctgcacagcgatgactcttctacaaaagtggacattaaggagacc
tacgaggtggaagccagcactttctgcttccctgaatctgtggatgtgggtggtgcatca
ccccacagcaagaccatcagtgagagcgagctgagcgccagcgccactgagctgctgcag
gactacatgctgacgctgcgcaccaagctgtcatcacaggagatccagcagtttgcagca
ctgctgcacgagtaccgcaatggggcctctatccacgagttctgcatcaacctgcggcag
ctctacggggacagccgcaagttcctgctgcttggtctgaggcccttcatccctgagaag
gacagccagcacttcgagaacttcctggagaccattggcgtgaaggatggccgcggcatc
atcactgacagctttggcaggcaccggcgggccctgagcaccacatccagttccaccacc
aatgggaacagggccacgggcagctctgatgaccggtcggcaccctcagagggggatgag
tgggaccgcatgatctcggacatcagcagcgacattgaggcgctgggctgcagcatggac
caggactcagcatga

  All links  
Disease (3)   
   OMIM (3)   
Gene (15)   
   RefGene (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (6)   
   OC (1)   
Protein sequence (16)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (14)   
DNA sequence (53)   
   RefSeq(nuc) (15)   
   GenBank (19)   
   EMBL (19)   
3D Structure (7)   
   PDB (7)   
Protein domain (5)   
   Pfam (5)   
All databases (99)   

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