Homo sapiens (human): 54676
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Entry
54676 CDS
T01001
Symbol
GTPBP2, JABELS
Name
(RefSeq) GTP binding protein 2
KO
K24888
GTP-binding protein 2
Organism
hsa
Homo sapiens (human)
Disease
H02510
Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
04031 GTP-binding proteins [BR:
hsa04031
]
54676 (GTPBP2)
GTP-binding proteins [BR:
hsa04031
]
Small (monomeric) G-proteins
Unclassified
54676 (GTPBP2)
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Gene cluster
GFIT
Motif
Pfam:
GTP_EFTU
GTP_EFTU_D2
GTP-eEF1A_C
MMR_HSR1
Motif
Other DBs
NCBI-GeneID:
54676
NCBI-ProteinID:
NP_061969
OMIM:
607434
HGNC:
4670
Ensembl:
ENSG00000172432
UniProt:
Q9BX10
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Position
6:complement(43620494..43631333)
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AA seq
602 aa
AA seq
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MDSRVSELFGGCCRPGGGPAVGGTLKARGAGSSSGCGGPKGKKKNGRNRGGKANNPPYLP
PEAEDGNIEYKLKLVNPSQYRFEHLVTQMKWRLQEGRGEAVYQIGVEDNGLLVGLAEEEM
RASLKTLHRMAEKVGADITVLREREVDYDSDMPRKITEVLVRKVPDNQQFLDLRVAVLGN
VDSGKSTLLGVLTQGELDNGRGRARLNLFRHLHEIQSGRTSSISFEILGFNSKGEVVNYS
DSRTAEEICESSSKMITFIDLAGHHKYLHTTIFGLTSYCPDCALLLVSANTGIAGTTREH
LGLALALKVPFFIVVSKIDLCAKTTVERTVRQLERVLKQPGCHKVPMLVTSEDDAVTAAQ
QFAQSPNVTPIFTLSSVSGESLDLLKVFLNILPPLTNSKEQEELMQQLTEFQVDEIYTVP
EVGTVVGGTLSSGICREGDQLVVGPTDDGCFLELRVCSIQRNRSACRVLRAGQAATLALG
DFDRALLRKGMVMVSPEMNPTICSVFEAEIVLLFHATTFRRGFQVTVHVGNVRQTAVVEK
IHAKDKLRTGEKAVVRFRFLKHPEYLKVGAKLLFREGVTKGIGHVTDVQAITAGEAQANM
GF
NT seq
1809 nt
NT seq
+upstream
nt +downstream
nt
atggactcgcgggtatcggagctgttcggcggctgctgccggcccggagggggcccggcc
gtgggcggaaccctcaaggctaggggggccggcagcagcagcggctgcggggggccaaag
ggaaagaagaagaacggaaggaacagagggggcaaagccaacaaccccccgtatttgccc
cccgaggctgaagatggaaacattgaatataaattgaagctggtgaatccatcccagtac
cgctttgagcacctggtgacacaaatgaagtggcggctccaggagggacgtggtgaggcc
gtctaccagattggggtagaggacaatgggctgctggtggggctggctgaggaggaaatg
cgagcttcgctcaagaccctgcaccggatggcagagaaggttggggcagacataaccgtt
cttcgagagcgagaagtggattatgatagcgacatgccccggaagatcaccgaggtgcta
gtacgaaaggtccctgacaaccaacagttcctagacctccgtgtggccgtcctggggaat
gtggactctgggaagtcaactctgcttggagtcctgacccagggagagctggacaatggg
cggggccgggctcggctcaaccttttccgccacctgcatgagattcagtctggccgaacc
tccagcatcagcttcgagatcctgggctttaacagcaagggagaggtggtgaattacagc
gactcacggacagcagaagagatctgtgagagcagctccaagatgatcaccttcatcgac
ctggcaggccaccataagtacctacacaccaccatctttggcctcacatcatactgcccc
gactgcgccctgctcctcgtcagtgccaacactgggattgctggcaccacaagggaacat
ctggggctggccctggccctgaaagtgcccttcttcatcgtggtcagcaagatcgaccta
tgtgccaagaccacagtggagaggacagtacgccagctggagcgggtcctcaagcagcct
ggctgccacaaggtccccatgctggtcacctctgaggatgatgccgtcactgctgcccag
cagtttgctcagtcacccaatgtcacccccatcttcacattgtccagtgtgtctggagag
agtctggacctcctcaaagtctttctgaatattctgccgccactcaccaacagcaaagag
caggaggaactcatgcagcagctgacggagttccaggtggatgaaatctacacagtacca
gaggtggggactgttgttggaggaacactttccagtgggatttgccgtgagggggaccag
ctggtggtgggccccacggatgatggctgcttcctggagctgagagtatgcagcatccag
cgcaaccgctctgcctgtcgtgtgctgcgagctggtcaggctgctacactggcgcttggg
gactttgaccgtgcactgcttcgcaagggcatggtgatggtgagcccggagatgaatcct
accatctgctcggtgtttgaggcagagatagtcttactgttccatgccaccaccttccga
cgaggattccaggtgacagtacacgtgggcaacgtacgtcagacggcagtggtggaaaag
atccatgccaaggacaaactgcggacaggcgagaaggcagtggtacgtttccgcttcctg
aaacacccagagtacctgaaggtgggcgccaaactgctgttccgggagggtgtcaccaag
ggcatcggccatgtcactgatgtacaagccattacagcaggagaagcccaggccaacatg
ggcttctga
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