KEGG   Homo sapiens (human): 9343
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)
SSDB
Motif
Pfam: GTP_EFTU EFTUD2 EFG_IV EFG_C GTP_EFTU_D2 EFG_III
Other DBs
NCBI-GeneID: 9343
NCBI-ProteinID: NP_001245282
OMIM: 603892
HGNC: 30858
Ensembl: ENSG00000108883
Vega: OTTHUMG00000179865
Pharos: Q15029(Tbio)
UniProt: Q15029
Structure
LinkDB
Position
17:complement(44849948..44899445)
AA seq 972 aa
MDTDLYDEFGNYIGPELDSDEDDDELGRETKDLDEMDDDDDDDDVGDHDDDHPGMEVVLH
EDKKYYPTAEEVYGPEVETIVQEEDTQPLTEPIIKPVKTKKFTLMEQTLPVTVYEMDFLA
DLMDNSELIRNVTLCGHLHHGKTCFVDCLIEQTHPEIRKRYDQDLCYTDILFTEQERGVG
IKSTPVTVVLPDTKGKSYLFNIMDTPGHVNFSDEVTAGLRISDGVVLFIDAAEGVMLNTE
RLIKHAVQERLAVTVCINKIDRLILELKLPPTDAYYKLRHIVDEVNGLISMYSTDENLIL
SPLLGNVCFSSSQYSICFTLGSFAKIYADTFGDINYQEFAKRLWGDIYFNPKTRKFTKKA
PTSSSQRSFVEFILEPLYKILAQVVGDVDTSLPRTLDELGIHLTKEELKLNIRPLLRLVC
KKFFGEFTGFVDMCVQHIPSPKVGAKPKIEHTYTGGVDSDLGEAMSDCDPDGPLMCHTTK
MYSTDDGVQFHAFGRVLSGTIHAGQPVKVLGENYTLEDEEDSQICTVGRLWISVARYHIE
VNRVPAGNWVLIEGVDQPIVKTATITEPRGNEEAQIFRPLKFNTTSVIKIAVEPVNPSEL
PKMLDGLRKVNKSYPSLTTKVEESGEHVILGTGELYLDCVMHDLRKMYSEIDIKVADPVV
TFCETVVETSSLKCFAETPNKKNKITMIAEPLEKGLAEDIENEVVQITWNRKKLGEFFQT
KYDWDLLAARSIWAFGPDATGPNILVDDTLPSEVDKALLGSVKDSIVQGFQWGTREGPLC
DELIRNVKFKILDAVVAQEPLHRGGGQIIPTARRVVYSAFLMATPRLMEPYYFVEVQAPA
DCVSAVYTVLARRRGHVTQDAPIPGSPLYTIKAFIPAIDSFGFETDLRTHTQGQAFSLSV
FHHWQIVPGDPLDKSIVIRPLEPQPAPHLAREFMIKTRRRKGLSEDVSISKFFDDPMLLE
LAKQDVVLNYPM
NT seq 2919 nt   +upstreamnt  +downstreamnt
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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