EFTUD2
entrez
9343
canonical
uniprot
Q15029
canonical
ensembl
ENSG00000108883
resolver
ensp
ENSP00000385873
resolver
ensp
ENSP00000392094
resolver
ensp
ENSP00000465058
resolver
ensp
ENSP00000467805
resolver
ensp
ENSP00000712791
resolver
genesymbol
EFTUD2
resolver
genesymbol_syn
KIAA0031
resolver
genesymbol_syn
SNRP116
resolver
hgnc
HGNC:30858
resolver
uniprot
B3KX19
resolver
uniprot
B4DK30
resolver
uniprot
B4DMC0
resolver
uniprot
D3DX58
resolver
uniprot
K7EJ81
resolver
uniprot
Q9BUR0
resolver
uniprot_entry
B3KX19_HUMAN
resolver
uniprot_entry
U5S1_HUMAN
resolver
uniprot_sec
B4DK30
resolver
uniprot_sec
B4DMC0
resolver
uniprot_sec
D3DX58
resolver
uniprot_sec
K7EJ81
resolver
uniprot_sec
Q9BUR0
resolver
amino_acid_sequence
MDTDLYDEFGNYIGPELDSDEDDDELGRETKDLDEMDDDDDDDDVGDHDDDHPGMEVVLHEDKKYYPTAEEVYGPEVETIVQEEDTQPLTEPIIKPVKTKKFTLMEQTLPVTVYEMDFLADLMDNSELIRNVTLCGHLHHGKTCFVDCLIEQTHPEIRKRYDQDLCYTDILFTEQERGVGIKSTPVTVVLPDTKGKSYLFNIMDTPGHVNFSDEVTAGLRISDGVVLFIDAAEGVMLNTERLIKHAVQERLAVTVCINKIDRLILELKLPPTDAYYKLRHIVDEVNGLISMYSTDENLILSPLLGNVCFSSSQYSICFTLGSFAKIYADTFGDINYQEFAKRLWGDIYFNPKTRKFTKKAPTSSSQRSFVEFILEPLYKILAQVVGDVDTSLPRTLDELGIHLTKEELKLNIRPLLRLVCKKFFGEFTGFVDMCVQHIPSPKVGAKPKIEHTYTGGVDSDLGEAMSDCDPDGPLMCHTTKMYSTDDGVQFHAFGRVLSGTIHAGQPVKVLGENYTLEDEEDSQICTVGRLWISVARYHIEVNRVPAGNWVLIEGVDQPIVKTATITEPRGNEEAQIFRPLKFNTTSVIKIAVEPVNPSELPKMLDGLRKVNKSYPSLTTKVEESGEHVILGTGELYLDCVMHDLRKMYSEIDIKVADPVVTFCETVVETSSLKCFAETPNKKNKITMIAEPLEKGLAEDIENEVVQITWNRKKLGEFFQTKYDWDLLAARSIWAFGPDATGPNILVDDTLPSEVDKALLGSVKDSIVQGFQWGTREGPLCDELIRNVKFKILDAVVAQEPLHRGGGQIIPTARRVVYSAFLMATPRLMEPYYFVEVQAPADCVSAVYTVLARRRGHVTQDAPIPGSPLYTIKAFIPAIDSFGFETDLRTHTQGQAFSLSVFHHWQIVPGDPLDKSIVIRPLEPQPAPHLAREFMIKTRRRKGLSEDVSISKFFDDPMLLELAKQDVVLNYPM
uniprot
proteins
disease_involvement
DISEASE: Mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536]: A rare syndrome characterized by progressive microcephaly, midface and malar hypoplasia, micrognathia, microtia, dysplastic ears, preauricular skin tags, significant developmental delay, and speech delay. Many patients have major sequelae, including choanal atresia that results in respiratory difficulties, conductive hearing loss, and cleft palate. {ECO:0000269|PubMed:22305528}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for pre-mRNA splicing as component of the spliceosome, including pre-catalytic, catalytic and post-catalytic spliceosomal complexes (PubMed:25092792, PubMed:28076346, PubMed:28502770, PubMed:28781166, PubMed:29301961, PubMed:29360106, PubMed:29361316, PubMed:30315277, PubMed:30705154). Component of the U5 snRNP and the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome (PubMed:16723661). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable). {ECO:0000269|PubMed:16723661, ECO:0000269|PubMed:25092792, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:28781166, ECO:0000269|PubMed:29301961, ECO:0000269|PubMed:29360106, ECO:0000269|PubMed:29361316, ECO:0000269|PubMed:30315277, ECO:0000269|PubMed:30705154, ECO:0000305|PubMed:33509932}.
uniprot
proteins
mass_dalton
109436
uniprot
proteins
protein_family
Classic translation factor GTPase family
uniprot
proteins
protein_family
EF-G/EF-2 subfamily
uniprot
proteins
protein_family
TRAFAC class translation factor GTPase superfamily
uniprot
proteins
pubmed
11991638
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
16723661
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20858735
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22305528
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24656813
uniprot
proteins
pubmed
25092792
uniprot
proteins
pubmed
25114211
uniprot
proteins
pubmed
26912367
uniprot
proteins
pubmed
28076346
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28502770
uniprot
proteins
pubmed
28561026
uniprot
proteins
pubmed
28781166
uniprot
proteins
pubmed
29301961
uniprot
proteins
pubmed
29360106
uniprot
proteins
pubmed
29361316
uniprot
proteins
pubmed
30315277
uniprot
proteins
pubmed
30538148
uniprot
proteins
pubmed
30705154
uniprot
proteins
pubmed
32703943
uniprot
proteins
pubmed
33509932
uniprot
proteins
pubmed
7584026
uniprot
proteins
pubmed
9233818
uniprot
proteins
pubmed
9774689
uniprot
proteins
sequence_length
972
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20858735, ECO:0000269|PubMed:26912367, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:28781166, ECO:0000269|PubMed:29301961, ECO:0000269|PubMed:29360106, ECO:0000269|PubMed:29361316, ECO:0000269|PubMed:30315277, ECO:0000269|PubMed:30705154}.
uniprot
proteins