KEGG   Homo sapiens (human): 83605Help
Entry
83605             CDS       T01001                                 

Gene name
CCM2, C7orf22, OSM, PP10187
Definition
(RefSeq) CCM2 scaffold protein
Organism
hsa  Homo sapiens (human)
Disease
H00534  Cerebral cavernous malformation
SSDB OrthologParalogGFIT
Motif
Pfam: CCM2_C PID DUF1722 ICAP-1_inte_bdg
Motif
Other DBs
NCBI-GeneID: 83605
NCBI-ProteinID: NP_113631
OMIM: 607929
HGNC: 21708
Ensembl: ENSG00000136280
Vega: OTTHUMG00000129246
Pharos: Q9BSQ5(Tbio)
UniProt: Q9BSQ5
Structure
PDB: 

Position
7p13
AA seq 444 aa AA seqDB search
MEEEGKKGKKPGIVSPFKRVFLKGEKSRDKKAHEKVTERRPLHTVVLSLPERVEPDRLLS
DYIEKEVKYLGQLTSIPGYLNPSSRTEILHFIDNAKRAHQLPGHLTQEHDAVLSLSAYNV
KLAWRDGEDIILRVPIHDIAAVSYVRDDAAHLVVLKTAQDPGISPSQSLCAESSRGLSAG
SLSESAVGPVEACCLVILAAESKVAAEELCCLLGQVFQVVYTESTIDFLDRAIFDGASTP
THHLSLHSDDSSTKVDIKETYEVEASTFCFPESVDVGGASPHSKTISESELSASATELLQ
DYMLTLRTKLSSQEIQQFAALLHEYRNGASIHEFCINLRQLYGDSRKFLLLGLRPFIPEK
DSQHFENFLETIGVKDGRGIITDSFGRHRRALSTTSSSTTNGNRATGSSDDRSAPSEGDE
WDRMISDISSDIEALGCSMDQDSA
NT seq 1335 nt NT seq  +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

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