Homo sapiens (human): 9343
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Entry
9343 CDS
T01001
Symbol
EFTUD2, MFDGA, MFDM, SNRNP116, Snrp116, Snu114, U5-116KD
Name
(RefSeq) elongation factor Tu GTP binding domain containing 2
KO
K12852
116 kDa U5 small nuclear ribonucleoprotein component
Organism
hsa
Homo sapiens (human)
Pathway
hsa03040
Spliceosome
Disease
H01838
Mandibulofacial dysostosis with microcephaly
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09120 Genetic Information Processing
09121 Transcription
03040 Spliceosome
9343 (EFTUD2)
09180 Brite Hierarchies
09182 Protein families: genetic information processing
03041 Spliceosome [BR:
hsa03041
]
9343 (EFTUD2)
Spliceosome [BR:
hsa03041
]
Complex B
U4/U6.U5 tri-snRNP components
U5 snRNP specific factors
9343 (EFTUD2)
Complex C
U5 SnRNP specific factors
9343 (EFTUD2)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
GTP_EFTU
EFTUD2
EFG_IV
EFG_C
GTP_EFTU_D2
EFG_III
Motif
Other DBs
NCBI-GeneID:
9343
NCBI-ProteinID:
NP_001245282
OMIM:
603892
HGNC:
30858
Ensembl:
ENSG00000108883
Vega:
OTTHUMG00000179865
Pharos:
Q15029
(Tbio)
UniProt:
Q15029
Structure
PDB
LinkDB
All DBs
Position
17:complement(44849948..44899445)
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AA seq
972 aa
AA seq
DB search
MDTDLYDEFGNYIGPELDSDEDDDELGRETKDLDEMDDDDDDDDVGDHDDDHPGMEVVLH
EDKKYYPTAEEVYGPEVETIVQEEDTQPLTEPIIKPVKTKKFTLMEQTLPVTVYEMDFLA
DLMDNSELIRNVTLCGHLHHGKTCFVDCLIEQTHPEIRKRYDQDLCYTDILFTEQERGVG
IKSTPVTVVLPDTKGKSYLFNIMDTPGHVNFSDEVTAGLRISDGVVLFIDAAEGVMLNTE
RLIKHAVQERLAVTVCINKIDRLILELKLPPTDAYYKLRHIVDEVNGLISMYSTDENLIL
SPLLGNVCFSSSQYSICFTLGSFAKIYADTFGDINYQEFAKRLWGDIYFNPKTRKFTKKA
PTSSSQRSFVEFILEPLYKILAQVVGDVDTSLPRTLDELGIHLTKEELKLNIRPLLRLVC
KKFFGEFTGFVDMCVQHIPSPKVGAKPKIEHTYTGGVDSDLGEAMSDCDPDGPLMCHTTK
MYSTDDGVQFHAFGRVLSGTIHAGQPVKVLGENYTLEDEEDSQICTVGRLWISVARYHIE
VNRVPAGNWVLIEGVDQPIVKTATITEPRGNEEAQIFRPLKFNTTSVIKIAVEPVNPSEL
PKMLDGLRKVNKSYPSLTTKVEESGEHVILGTGELYLDCVMHDLRKMYSEIDIKVADPVV
TFCETVVETSSLKCFAETPNKKNKITMIAEPLEKGLAEDIENEVVQITWNRKKLGEFFQT
KYDWDLLAARSIWAFGPDATGPNILVDDTLPSEVDKALLGSVKDSIVQGFQWGTREGPLC
DELIRNVKFKILDAVVAQEPLHRGGGQIIPTARRVVYSAFLMATPRLMEPYYFVEVQAPA
DCVSAVYTVLARRRGHVTQDAPIPGSPLYTIKAFIPAIDSFGFETDLRTHTQGQAFSLSV
FHHWQIVPGDPLDKSIVIRPLEPQPAPHLAREFMIKTRRRKGLSEDVSISKFFDDPMLLE
LAKQDVVLNYPM
NT seq
2919 nt
NT seq
+upstream
nt +downstream
nt
atggataccgacttatatgatgagtttgggaattatattggaccagagcttgattctgat
gaagatgatgatgaattgggtagagagaccaaagatcttgatgagatggatgatgatgac
gacgacgatgacgtaggagatcatgacgatgaccaccctgggatggaggtggtgctgcat
gaggacaagaagtactacccaacagccgaggaggtgtatggtcctgaggtggagaccata
gttcaagaggaagacactcagcctctcacagaacccattattaagccagtgaaaaccaag
aaattcactctgatggagcagacattacctgttacggtgtatgagatggatttcttggcg
gatctgatggataactcagagctcatcagaaatgtgaccctttgtggacatctccaccat
ggcaagacatgttttgtggattgtttaattgaacagactcacccggaaatcagaaagcgc
tatgaccaagatctgtgctatactgacatcctcttcacagagcaagagagaggtgtaggc
atcaaaagcactcctgtgacagtggtcttgccagacaccaaaggaaaatcttatctcttc
aatatcatggacactccaggacatgtgaatttctctgatgaggtcacagctggcttgcgc
atctcagatggagtggtccttttcattgatgctgctgagggggtgatgctgaacacagag
cggctgatcaagcatgcggtgcaggagaggctggcagtcactgtgtgcatcaacaagatt
gaccggctgatcctggagctgaagctgcctccaactgatgcttattacaagctgcgccac
attgtggatgaggtcaatggattaataagcatgtattccactgatgagaacctgatcctt
tccccactcctgggtaacgtctgcttctccagctcccagtacagcatctgcttcacgctg
ggctcctttgccaagatctatgccgacacctttggtgacattaattaccaagaatttgct
aaaagactctggggtgacatctacttcaaccctaagacgcgaaagttcaccaaaaaggcc
ccaactagcagctcccagagaagtttcgtggagtttatcttggagcctctttataagatc
ctcgcccaggttgtaggtgacgtggacaccagcctcccacggaccctagacgagcttggc
atccacctgacgaaggaggagctgaagctgaacatccgccccttgctcaggctggtctgc
aaaaagttctttggcgagttcacaggctttgtggacatgtgtgtgcagcatatcccttct
ccaaaggtgggcgccaagcccaagattgagcacacctacaccggtggtgtggactccgac
ctcggcgaggctatgagtgactgtgaccctgatggccccctgatgtgccacactactaag
atgtacagcacagatgatggagtccagtttcacgcctttggccgggtgctgagtggcacc
attcatgctgggcagcctgtgaaggtactgggggagaactacaccctggaggatgaggaa
gactcccagatatgcaccgtgggccgcctttggatctctgtggccaggtaccacatcgag
gtgaaccgtgttcctgctggcaactgggttctgattgaaggtgttgatcaaccaattgtg
aagacagcaaccataaccgaaccccgaggcaatgaggaggctcagattttccgacccttg
aagttcaataccacatctgttatcaagattgctgtggagccagtcaacccctcagagctg
cccaagatgcttgatggcctgcgcaaggtcaacaagagctatccatccctcaccaccaag
gtggaggagtctggcgagcatgtgatcctgggcactggggagctctacctggactgtgtg
atgcatgatttgcggaagatgtactcagagatagacatcaaggtggctgacccagttgtc
acgttttgtgagacggtggtggaaacatcctccctcaagtgctttgctgaaacgcctaat
aagaagaacaagatcaccatgattgctgagcctcttgagaagggcctggcagaggacata
gagaatgaggtggtccagattacgtggaacaggaagaagctgggagagttcttccagacc
aagtacgattgggatctgctggctgcccgttccatctgggcttttggccctgatgcgact
ggccccaacattctggtggatgatactctgccctctgaggtggacaaggctcttcttggt
tcagtgaaggacagcatcgttcaaggtttccagtggggaaccagggagggccccctctgt
gatgaattgattcggaatgtcaagtttaagatcctggatgcggtggttgcccaggagccc
ctgcaccggggcgggggccagatcatccccacagccaggagagtcgtctactctgccttc
ctcatggctactcctcgtctgatggagccttactactttgtagaggtccaggcccctgca
gattgcgtctctgcagtttataccgtcctggccaggcgcagggggcacgtgactcaggat
gcacccatcccaggctcccctctgtacaccatcaaagcttttatcccggccatcgactct
tttggctttgagactgatctccggactcacacccagggacaagccttttctctgtctgtc
ttccaccactggcagattgtgcctggtgatcccctggacaagagcattgtcatccgcccc
ttggagccacagccagctcctcacctggcccgggaattcatgatcaaaacccgccgtagg
aagggcctcagtgaagatgtgagcatcagcaaattcttcgatgatcctatgttgctggaa
cttgccaaacaggatgttgtgctcaattaccccatgtga
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