KEGG   Homo sapiens (human): 4053
Entry
4053              CDS       T01001                                 
Symbol
LTBP2, C14orf141, GLC3D, LTBP3, MSPKA, MSTP031, WMS3
Name
(RefSeq) latent transforming growth factor beta binding protein 2
  KO
K08023  latent transforming growth factor beta binding protein 2/3/4
Organism
hsa  Homo sapiens (human)
Disease
H00673  Weill-Marchesani syndrome
H01203  Primary congenital glaucoma
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    4053 (LTBP2)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 EGF-like domain-containing proteins
  hEGF / cEGF domain-containing proteins
   4053 (LTBP2)
SSDB
Motif
Pfam: EGF_CA cEGF TB EGF hEGF EGF_3 FXa_inhibition EGF_2
Other DBs
NCBI-GeneID: 4053
NCBI-ProteinID: NP_000419
OMIM: 602091
HGNC: 6715
Ensembl: ENSG00000119681
UniProt: Q14767
Position
14:complement(74498183..74612237)
AA seq 1821 aa
MRPRTKARSPGRALRNPWRGFLPLTLALFVGAGHAQRDPVGRYEPAGGDANRLRRPGGSY
PAAAAAKVYSLFREQDAPVAGLQPVERAQPGWGSPRRPTEAEARRPSRAQQSRRVQPPAQ
TRRSTPLGQQQPAPRTRAAPALPRLGTPQRSGAAPPTPPRGRLTGRNVCGGQCCPGWTTA
NSTNHCIKPVCEPPCQNRGSCSRPQLCVCRSGFRGARCEEVIPDEEFDPQNSRLAPRRWA
ERSPNLRRSSAAGEGTLARAQPPAPQSPPAPQSPPAGTLSGLSQTHPSQQHVGLSRTVRL
HPTATASSQLSSNALPPGPGLEQRDGTQQAVPLEHPSSPWGLNLTEKIKKIKIVFTPTIC
KQTCARGHCANSCERGDTTTLYSQGGHGHDPKSGFRIYFCQIPCLNGGRCIGRDECWCPA
NSTGKFCHLPIPQPDREPPGRGSRPRALLEAPLKQSTFTLPLSNQLASVNPSLVKVHIHH
PPEASVQIHQVAQVRGGVEEALVENSVETRPPPWLPASPGHSLWDSNNIPARSGEPPRPL
PPAAPRPRGLLGRCYLNTVNGQCANPLLELTTQEDCCGSVGAFWGVTLCAPCPPRPASPV
IENGQLECPQGYKRLNLTHCQDINECLTLGLCKDAECVNTRGSYLCTCRPGLMLDPSRSR
CVSDKAISMLQGLCYRSLGPGTCTLPLAQRITKQICCCSRVGKAWGSECEKCPLPGTEAF
REICPAGHGYTYASSDIRLSMRKAEEEELARPPREQGQRSSGALPGPAERQPLRVVTDTW
LEAGTIPDKGDSQAGQVTTSVTHAPAWVTGNATTPPMPEQGIAEIQEEQVTPSTDVLVTL
STPGIDRCAAGATNVCGPGTCVNLPDGYRCVCSPGYQLHPSQAYCTDDNECLRDPCKGKG
RCINRVGSYSCFCYPGYTLATSGATQECQDINECEQPGVCSGGQCTNTEGSYHCECDQGY
IMVRKGHCQDINECRHPGTCPDGRCVNSPGSYTCLACEEGYRGQSGSCVDVNECLTPGVC
AHGKCTNLEGSFRCSCEQGYEVTSDEKGCQDVDECASRASCPTGLCLNTEGSFACSACEN
GYWVNEDGTACEDLDECAFPGVCPSGVCTNTAGSFSCKDCDGGYRPSPLGDSCEDVDECE
DPQSSCLGGECKNTVGSYQCLCPQGFQLANGTVCEDVNECMGEEHCAPHGECLNSHGSFF
CLCAPGFVSAEGGTSCQDVDECATTDPCVGGHCVNTEGSFNCLCETGFQPSPESGECVDI
DECEDYGDPVCGTWKCENSPGSYRCVLGCQPGFHMAPNGDCIDIDECANDTMCGSHGFCD
NTDGSFRCLCDQGFEISPSGWDCVDVNECELMLAVCGAALCENVEGSFLCLCASDLEEYD
AQEGHCRPRGAGGQSMSEAPTGDHAPAPTRMDCYSGQKGHAPCSSVLGRNTTQAECCCTQ
GASWGDACDLCPSEDSAEFSEICPSGKGYIPVEGAWTFGQTMYTDADECVIFGPGLCPNG
RCLNTVPGYVCLCNPGFHYDASHKKCEDHDECQDLACENGECVNTEGSFHCFCSPPLTLD
LSQQRCMNSTSSTEDLPDHDIHMDICWKKVTNDVCSEPLRGHRTTYTECCCQDGEAWSQQ
CALCPPRSSEVYAQLCNVARIEAEREAGVHFRPGYEYGPGPDDLHYSIYGPDGAPFYNYL
GPEDTVPEPAFPNTAGHSADRTPILESPLQPSELQPHYVASHPEPPAGFEGLQAEECGIL
NGCENGRCVRVREGYTCDCFEGFQLDAAHMACVDVNECDDLNGPAVLCVHGYCENTEGSY
RCHCSPGYVAEAGPPHCTAKE
NT seq 5466 nt   +upstreamnt  +downstreamnt
atgaggccgcggaccaaagcccgcagcccggggcgcgccctgcggaacccctggagaggc
ttcctgccgctcaccctggctctcttcgtgggcgcgggtcatgcccaaagggaccccgta
gggagatacgagccggctggtggagacgcgaatcgactgcggcgccctgggggcagctac
ccggcagcggctgcagccaaggtgtacagtctgttccgggagcaggacgcgcctgtcgcg
ggcttgcagcccgtggagcgggcccagccgggctgggggagccccaggaggcccaccgag
gcggaggccaggaggccgtcccgcgcgcagcagtcgcggcgtgtccagccacctgcgcag
acccggagaagcactcccctgggccagcagcaaccagcaccccggacccgggccgcgccg
gctctcccacgcctggggaccccacagcggtctggggctgcgcccccaaccccgccgcga
gggcggctcacggggaggaacgtctgcgggggacagtgctgcccaggatggacaacagca
aacagcaccaaccactgtatcaaacccgtttgcgagccgccgtgccagaaccggggctcc
tgcagccgcccgcagctctgtgtctgccgctctggtttccgtggagcccgctgcgaggag
gtcattcccgatgaggaatttgacccccagaactccaggctggcacctcgacgctgggcc
gagcgttcacccaacctgcgcaggagcagtgcggctggagagggcaccttggccagagca
cagccgccagcaccacagtcgccgcccgcaccacagtcgccaccagctgggaccctgagt
ggcctcagccagacccacccttcccagcagcacgtggggttgtcccgcactgtccgactt
cacccgactgccacggccagtagccagctctcttccaacgccctgcccccgggaccaggc
cttgagcagagagatggcacccaacaggcggtacctctggagcacccctcatccccctgg
gggctgaacctcacggagaaaatcaagaagatcaagatcgtcttcactcccaccatctgc
aagcagacctgtgcccgtggacactgtgccaacagctgtgagaggggcgacaccaccacc
ctgtacagccagggcggccatgggcacgatcccaagtctggcttccgcatctatttctgc
cagatcccctgcctgaacggaggccgctgcatcggcagggacgaatgctggtgccccgcc
aactccaccgggaagttctgccacctgcctatcccgcagccggacagggagcctccaggg
agggggtcccgccccagggccttgctggaagccccactgaagcagtccactttcacactg
ccgctctccaaccagctggcctccgtgaacccctccctggtgaaggtgcacattcaccac
ccacccgaggcctcagtgcagatccaccaggtggcccaggtgcggggcggggtggaggag
gccctagtggagaacagcgtggagaccagacccccgccctggctgcctgccagccctggc
cacagcctctgggacagcaacaacatccctgctcggtctggagagccccctcggccactg
cccccagcagcacccaggcctcgaggactgctgggccggtgttacctgaacactgtgaac
ggacagtgtgccaaccctctgctggagctgactacccaggaggactgctgtggcagtgtg
ggagccttctggggggtgactttgtgtgccccatgcccacccagaccagcctccccggtg
attgagaatggccagctggagtgtcctcaggggtacaagagactgaacctcactcactgc
caagatatcaacgagtgcttgaccctgggcctgtgcaaggacgcggagtgtgtgaatacc
aggggcagctacctgtgcacatgcagacctggcctcatgctggatccatcgcggagccgc
tgtgtgtcggacaaggcaatctccatgctgcagggactgtgctaccggtcgctggggccc
ggcacctgcaccctgcctttggcccagcggatcaccaagcagatatgctgctgcagccgc
gtgggcaaagcatggggcagcgagtgtgagaaatgccctctgcctggcacagaggccttc
agagagatctgccctgccggccacggctacacctacgcgagctccgacatccgcctgtcc
atgaggaaagccgaggaggaggaactggcaaggcccccaagggagcaagggcagaggagc
agcggggcactgcccgggccagcagagaggcagcccctccgggtcgtcacggacacctgg
cttgaggccgggaccatccctgacaagggtgactctcaggctggccaggtcacgaccagt
gtcactcatgcacctgcctgggtcacagggaatgccacaaccccaccaatgcctgaacag
gggattgcagagatacaggaagaacaagtgaccccctccactgatgtgctggtgaccctg
agcaccccaggcattgacagatgcgctgctggagccaccaacgtctgtggccctggaacc
tgcgtgaacctccccgatggatacagatgtgtctgcagccctggctaccagctgcacccc
agccaggcctactgcacagatgacaacgagtgtctgagggacccctgcaagggaaaaggg
cgctgcatcaaccgcgtggggtcctactcctgcttctgctaccctggctacactctggcc
acctcaggggcgacacaggagtgtcaagatatcaatgagtgtgagcagccaggggtgtgc
agcggggggcagtgcaccaacaccgagggctcgtaccactgcgagtgtgatcagggctac
atcatggtcaggaaaggacactgccaagatatcaacgaatgccgtcaccccggtacctgc
cctgatgggagatgcgtcaattcccctggctcctacacttgtctggcctgtgaggagggc
taccggggccagagtgggagctgtgtagatgtgaatgagtgtctgactcccggggtctgt
gcccatggaaagtgcaccaacctagaaggctccttcagatgctcttgtgagcagggctat
gaggtcacctcagatgagaagggctgccaagatgtggatgagtgtgccagccgggcctca
tgccccacaggcctctgcctcaacacggagggctccttcgcctgctctgcctgtgagaac
gggtactgggtgaatgaagacggcactgcctgtgaagacctagatgagtgtgccttcccg
ggagtctgcccctccggagtctgcaccaacacggctggctccttctcctgcaaggactgc
gatgggggctaccggcccagccccctgggtgactcctgtgaagatgtggatgaatgtgaa
gacccccagagcagctgcctgggaggcgagtgcaagaacactgtgggctcctaccagtgc
ctctgtccccagggcttccagctggccaatggcaccgtgtgtgaggatgtgaatgagtgc
atgggggaggagcactgcgcaccccacggcgagtgcctcaacagccacgggtctttcttc
tgtctgtgcgcgcctggcttcgtcagcgcagaggggggcaccagctgccaggatgtggac
gagtgtgccaccacagacccgtgtgtgggagggcactgtgtcaacaccgagggctccttc
aactgtctatgtgagactggcttccagccctccccagagagtggagagtgtgtggatatt
gacgagtgtgaggactatggagacccggtgtgtggcacctggaagtgtgaaaacagccct
ggctcctaccgctgtgttctgggctgccagcctggcttccacatggccccgaacggagac
tgcattgacatagacgagtgcgccaacgacaccatgtgtggcagccacggcttctgtgac
aacactgatggctccttccgctgcctctgtgaccagggcttcgagatctctccctcaggc
tgggactgtgtggatgtgaacgagtgtgagcttatgctggcggtatgtggggccgcgctc
tgtgagaacgtggagggctccttcctgtgcctctgtgccagtgacctggaggagtacgat
gcccaggaggggcactgccgcccacggggggctggaggtcagagtatgtctgaggcccca
acgggggaccatgccccggcccccacccgcatggactgctactccgggcagaagggccat
gcgccctgctccagtgtcctgggccggaacaccacacaggctgaatgctgctgcacccag
ggcgctagctggggagatgcctgtgacctctgcccgtctgaggactcagctgaattcagc
gagatctgccctagtggaaaaggctacattcctgtggaaggagcctggacgtttggacag
accatgtacacagatgcggatgagtgtgtgatattcgggcctggtctctgcccgaacggc
cggtgcctcaacaccgtgcctggttatgtctgcctgtgcaatcccggcttccactacgat
gcttcccacaagaagtgtgaggatcacgatgagtgccaggacctggcctgtgagaatggc
gagtgcgtcaacacggagggctccttccactgcttctgcagccccccgctcaccctggac
ctcagccagcagcgctgcatgaacagcaccagcagcacggaggacctccctgaccacgac
atccacatggacatctgctggaaaaaagtcaccaatgatgtgtgcagcgaacccctgcgt
gggcaccgcaccacctacacggaatgctgctgccaggacggcgaggcctggagccagcag
tgtgctctgtgtcccccgaggagctctgaggtctatgctcagctgtgcaacgtggctcgc
attgaggcagagcgggaggccggggtccacttccggccaggctatgagtatggccccggg
cccgatgacctgcactacagcatctatggcccagatggggcccccttctacaactacctg
ggccccgaggacaccgtccctgagcctgccttccccaacacagccggtcactcagcggac
cgcacacccatccttgagtctcctttgcagccctcagaactccagccccactacgtggcc
agccatccagagcccccagccggcttcgaagggcttcaggcggaggagtgcggcatcctg
aacggctgtgagaatggccgctgtgtgcgcgtgcgggagggctacacctgtgactgtttt
gagggcttccagctggatgcggcccacatggcctgcgtagatgtgaatgagtgtgatgac
ttgaacgggcctgctgtgctctgtgtccatggttactgcgagaacacagagggctcctac
cgctgccactgctccccgggatatgtggctgaggcagggcccccccactgcactgccaag
gagtag

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Ontology (2)   
   KEGG BRITE (2)   
Disease (7)   
   KEGG DISEASE (2)   
   OMIM (5)   
Genome (1)   
   KEGG GENOME (1)   
Gene (97)   
   KEGG ORTHOLOGY (1)   
   RefGene (88)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (17)   
   RefSeq(nuc) (1)   
   GenBank (8)   
   EMBL (8)   
Protein domain (8)   
   Pfam (8)   
All databases (135)   

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