KEGG   Homo sapiens (human): 2022
Entry
2022              CDS       T01001                                 
Symbol
ENG, END, HHT1, ORW1, ORW
Name
(RefSeq) endoglin
  KO
K06526  endoglin
Organism
hsa  Homo sapiens (human)
Network
nt06507  TGFB signaling
  Element
N01462  BMP9/10 signaling pathway, BMP9/10 coreceptor
Disease
H00533  Hereditary hemorrhagic telangiectasia
Drug target
Carotuximab: D11260
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04090 CD molecules [BR:hsa04090]
    2022 (ENG)
CD molecules [BR:hsa04090]
 Proteins
  2022 (ENG)
SSDB
Motif
Pfam: TraL
Other DBs
NCBI-GeneID: 2022
NCBI-ProteinID: NP_001108225
OMIM: 131195
HGNC: 3349
Ensembl: ENSG00000106991
UniProt: P17813 Q96CG0
Structure
Position
9:complement(127815016..127854658)
AA seq 658 aa
MDRGTLPLAVALLLASCSLSPTSLAETVHCDLQPVGPERGEVTYTTSQVSKGCVAQAPNA
ILEVHVLFLEFPTGPSQLELTLQASKQNGTWPREVLLVLSVNSSVFLHLQALGIPLHLAY
NSSLVTFQEPPGVNTTELPSFPKTQILEWAAERGPITSAAELNDPQSILLRLGQAQGSLS
FCMLEASQDMGRTLEWRPRTPALVRGCHLEGVAGHKEAHILRVLPGHSAGPRTVTVKVEL
SCAPGDLDAVLILQGPPYVSWLIDANHNMQIWTTGEYSFKIFPEKNIRGFKLPDTPQGLL
GEARMLNASIVASFVELPLASIVSLHASSCGGRLQTSPAPIQTTPPKDTCSPELLMSLIQ
TKCADDAMTLVLKKELVAHLKCTITGLTFWDPSCEAEDRGDKFVLRSAYSSCGMQVSASM
ISNEAVVNILSSSSPQRKKVHCLNMDSLSFQLGLYLSPHFLQASNTIEPGQQSFVQVRVS
PSVSEFLLQLDSCHLDLGPEGGTVELIQGRAAKGNCVSLLSPSPEGDPRFSFLLHFYTVP
IPKTGTLSCTVALRPKTGSQDQEVHRTVFMRLNIISPDLSGCTSKGLVLPAVLGITFGAF
LIGALLTAALWYIYSHTRSPSKREPVVAVAAPASSESSSTNHSIGSTQSTPCSTSSMA
NT seq 1977 nt   +upstreamnt  +downstreamnt
atggaccgcggcacgctccctctggctgttgccctgctgctggccagctgcagcctcagc
cccacaagtcttgcagaaacagtccattgtgaccttcagcctgtgggccccgagaggggc
gaggtgacatataccactagccaggtctcgaagggctgcgtggctcaggcccccaatgcc
atccttgaagtccatgtcctcttcctggagttcccaacgggcccgtcacagctggagctg
actctccaggcatccaagcaaaatggcacctggccccgagaggtgcttctggtcctcagt
gtaaacagcagtgtcttcctgcatctccaggccctgggaatcccactgcacttggcctac
aattccagcctggtcaccttccaagagcccccgggggtcaacaccacagagctgccatcc
ttccccaagacccagatccttgagtgggcagctgagaggggccccatcacctctgctgct
gagctgaatgacccccagagcatcctcctccgactgggccaagcccaggggtcactgtcc
ttctgcatgctggaagccagccaggacatgggccgcacgctcgagtggcggccgcgtact
ccagccttggtccggggctgccacttggaaggcgtggccggccacaaggaggcgcacatc
ctgagggtcctgccgggccactcggccgggccccggacggtgacggtgaaggtggaactg
agctgcgcacccggggatctcgatgccgtcctcatcctgcagggtcccccctacgtgtcc
tggctcatcgacgccaaccacaacatgcagatctggaccactggagaatactccttcaag
atctttccagagaaaaacattcgtggcttcaagctcccagacacacctcaaggcctcctg
ggggaggcccggatgctcaatgccagcattgtggcatccttcgtggagctaccgctggcc
agcattgtctcacttcatgcctccagctgcggtggtaggctgcagacctcacccgcaccg
atccagaccactcctcccaaggacacttgtagcccggagctgctcatgtccttgatccag
acaaagtgtgccgacgacgccatgaccctggtactaaagaaagagcttgttgcgcatttg
aagtgcaccatcacgggcctgaccttctgggaccccagctgtgaggcagaggacaggggt
gacaagtttgtcttgcgcagtgcttactccagctgtggcatgcaggtgtcagcaagtatg
atcagcaatgaggcggtggtcaatatcctgtcgagctcatcaccacagcggaaaaaggtg
cactgcctcaacatggacagcctctctttccagctgggcctctacctcagcccacacttc
ctccaggcctccaacaccatcgagccggggcagcagagctttgtgcaggtcagagtgtcc
ccatccgtctccgagttcctgctccagttagacagctgccacctggacttggggcctgag
ggaggcaccgtggaactcatccagggccgggcggccaagggcaactgtgtgagcctgctg
tccccaagccccgagggtgacccgcgcttcagcttcctcctccacttctacacagtaccc
atacccaaaaccggcaccctcagctgcacggtagccctgcgtcccaagaccgggtctcaa
gaccaggaagtccataggactgtcttcatgcgcttgaacatcatcagccctgacctgtct
ggttgcacaagcaaaggcctcgtcctgcccgccgtgctgggcatcacctttggtgccttc
ctcatcggggccctgctcactgctgcactctggtacatctactcgcacacgcgttccccc
agcaagcgggagcccgtggtggcggtggctgccccggcctcctcggagagcagcagcacc
aaccacagcatcgggagcacccagagcaccccctgctccaccagcagcatggcatag

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