KEGG   Homo sapiens (human): 2022
Entry
2022              CDS       T01001                                 

Gene name
ENG, END, HHT1, ORW1, ORW
Definition
(RefSeq) endoglin
  KO
K06526  endoglin
Organism
hsa  Homo sapiens (human)
Disease
H00533  Hereditary hemorrhagic telangiectasia
H01621  Pulmonary arterial hypertension
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: Zona_pellucida
Other DBs
NCBI-GeneID: 2022
NCBI-ProteinID: NP_001108225
OMIM: 131195
HGNC: 3349
Ensembl: ENSG00000106991
Vega: OTTHUMG00000020723
Pharos: P17813(Tbio)
UniProt: P17813 Q96CG0 A0A024R878
LinkDB
Position
9q34.11
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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