Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9343
Gene name	Elongation factor Tu GTP binding domain containing 2
Gene symbol	EFTUD2
Synonyms (NCBI Gene)	MFDGAMFDMSNRNP116Snrp116Snu114U5-116KD
Chromosome	17
Chromosome location	17q21.31
Summary	This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encod

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SNP ID	Visualize variation	Clinical significance	Consequence
rs387906877	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs387906878	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs387906879	A>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs397515431	T>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs749855263	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant, non coding transcript variant
rs765835040	C>A,T	Pathogenic	Splice acceptor variant
rs794729651	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs797045550	C>G	Pathogenic	Splice donor variant
rs797045551	AT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs863224868	A>C	Likely-pathogenic	Splice donor variant
rs879253725	CA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs879253726	G>T	Pathogenic	Coding sequence variant, intron variant, stop gained
rs879253727	G>C	Pathogenic	Coding sequence variant, intron variant, stop gained
rs879253728	C>-	Pathogenic	Coding sequence variant, splice donor variant, non coding transcript variant
rs886039349	CAGA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs886039467	A>-	Pathogenic	Splice donor variant
rs886041831	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs996949678	G>A,C	Pathogenic	Missense variant, non coding transcript variant, stop gained, coding sequence variant
rs1057518932	T>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1057520673	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1057520674	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs1057520720	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1057522002	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1057524588	C>A	Pathogenic	Splice donor variant
rs1064793395	T>C	Likely-pathogenic	Intron variant
rs1064796381	G>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1064796893	C>T	Pathogenic	Splice donor variant
rs1064797069	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1085307457	C>A	Likely-pathogenic, pathogenic	Splice donor variant
rs1085307647	C>T	Pathogenic	Splice donor variant
rs1131691511	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1135401812	TCCAC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1555563981	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555563998	->G	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555564006	C>T	Pathogenic	Splice acceptor variant
rs1555564126	C>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555564175	->A	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555564341	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555565162	->TT	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555565774	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555565807	TG>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555569127	C>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555569283	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555571121	C>T	Likely-pathogenic	Intron variant, non coding transcript variant, synonymous variant, coding sequence variant
rs1597788212	G>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1597789186	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1597795170	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1597795664	->G	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1597797917	T>C	Pathogenic	Splice acceptor variant
rs1597807512	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant

248

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miRTarBase ID	miRNA	Experiments	Reference
MIRT019894	hsa-miR-375	Microarray	20215506
MIRT023995	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT049755	hsa-miR-92a-3p	CLASH	23622248
MIRT049755	hsa-miR-92a-3p	CLASH	23622248
MIRT044048	hsa-miR-363-3p	CLASH	23622248
MIRT041595	hsa-miR-193b-3p	CLASH	23622248
MIRT662000	hsa-miR-3183	HITS-CLIP	23824327
MIRT661999	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT661998	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT661997	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT661996	hsa-miR-3189-3p	HITS-CLIP	23824327
MIRT661995	hsa-miR-4677-3p	HITS-CLIP	23824327
MIRT661994	hsa-miR-4679	HITS-CLIP	23824327
MIRT661993	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT661992	hsa-miR-1225-3p	HITS-CLIP	23824327
MIRT661991	hsa-miR-1233-3p	HITS-CLIP	23824327
MIRT661990	hsa-miR-4268	HITS-CLIP	23824327
MIRT661989	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT661988	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT453290	hsa-miR-1295b-5p	PAR-CLIP	23592263
MIRT453289	hsa-miR-1912	PAR-CLIP	23592263
MIRT453288	hsa-miR-15a-5p	PAR-CLIP	23592263
MIRT453287	hsa-miR-15b-5p	PAR-CLIP	23592263
MIRT453286	hsa-miR-16-5p	PAR-CLIP	23592263
MIRT453285	hsa-miR-195-5p	PAR-CLIP	23592263
MIRT453284	hsa-miR-424-5p	PAR-CLIP	23592263
MIRT453283	hsa-miR-497-5p	PAR-CLIP	23592263
MIRT453282	hsa-miR-6838-5p	PAR-CLIP	23592263
MIRT453281	hsa-miR-6514-5p	PAR-CLIP	23592263
MIRT453280	hsa-miR-500b-3p	PAR-CLIP	23592263
MIRT453279	hsa-miR-4481	PAR-CLIP	23592263
MIRT453278	hsa-miR-4745-5p	PAR-CLIP	23592263
MIRT453277	hsa-miR-103a-3p	PAR-CLIP	23592263
MIRT453276	hsa-miR-107	PAR-CLIP	23592263
MIRT453275	hsa-miR-504-3p	PAR-CLIP	23592263
MIRT453274	hsa-miR-122-5p	PAR-CLIP	23592263
MIRT453273	hsa-miR-6827-5p	PAR-CLIP	23592263
MIRT453272	hsa-miR-6090	PAR-CLIP	23592263
MIRT453271	hsa-miR-4300	PAR-CLIP	23592263
MIRT453270	hsa-miR-5591-5p	PAR-CLIP	23592263
MIRT453269	hsa-miR-6726-5p	PAR-CLIP	23592263
MIRT453268	hsa-miR-920	PAR-CLIP	23592263
MIRT453267	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT453266	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT440746	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440746	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT662000	hsa-miR-3183	HITS-CLIP	23824327
MIRT661999	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT661998	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT661997	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT661996	hsa-miR-3189-3p	HITS-CLIP	23824327
MIRT661995	hsa-miR-4677-3p	HITS-CLIP	23824327
MIRT661994	hsa-miR-4679	HITS-CLIP	23824327
MIRT661993	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT661992	hsa-miR-1225-3p	HITS-CLIP	23824327
MIRT661991	hsa-miR-1233-3p	HITS-CLIP	23824327
MIRT661990	hsa-miR-4268	HITS-CLIP	23824327
MIRT661989	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT661988	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT453290	hsa-miR-1295b-5p	PAR-CLIP	23592263
MIRT453289	hsa-miR-1912	PAR-CLIP	23592263
MIRT453288	hsa-miR-15a-5p	PAR-CLIP	23592263
MIRT453287	hsa-miR-15b-5p	PAR-CLIP	23592263
MIRT453286	hsa-miR-16-5p	PAR-CLIP	23592263
MIRT453285	hsa-miR-195-5p	PAR-CLIP	23592263
MIRT453284	hsa-miR-424-5p	PAR-CLIP	23592263
MIRT453283	hsa-miR-497-5p	PAR-CLIP	23592263
MIRT453282	hsa-miR-6838-5p	PAR-CLIP	23592263
MIRT453281	hsa-miR-6514-5p	PAR-CLIP	23592263
MIRT453280	hsa-miR-500b-3p	PAR-CLIP	23592263
MIRT453279	hsa-miR-4481	PAR-CLIP	23592263
MIRT453278	hsa-miR-4745-5p	PAR-CLIP	23592263
MIRT453277	hsa-miR-103a-3p	PAR-CLIP	23592263
MIRT453276	hsa-miR-107	PAR-CLIP	23592263
MIRT453275	hsa-miR-504-3p	PAR-CLIP	23592263
MIRT453274	hsa-miR-122-5p	PAR-CLIP	23592263
MIRT453273	hsa-miR-6827-5p	PAR-CLIP	23592263
MIRT453272	hsa-miR-6090	PAR-CLIP	23592263
MIRT453271	hsa-miR-4300	PAR-CLIP	23592263
MIRT453270	hsa-miR-5591-5p	PAR-CLIP	23592263
MIRT453269	hsa-miR-6726-5p	PAR-CLIP	23592263
MIRT453268	hsa-miR-920	PAR-CLIP	23592263
MIRT453267	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT453266	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT954642	hsa-miR-1200	CLIP-seq
MIRT954643	hsa-miR-1207-5p	CLIP-seq
MIRT954644	hsa-miR-1297	CLIP-seq
MIRT954645	hsa-miR-150	CLIP-seq
MIRT954646	hsa-miR-1827	CLIP-seq
MIRT954647	hsa-miR-1909	CLIP-seq
MIRT954648	hsa-miR-2115	CLIP-seq
MIRT954649	hsa-miR-2467-3p	CLIP-seq
MIRT954650	hsa-miR-26a	CLIP-seq
MIRT954651	hsa-miR-26b	CLIP-seq
MIRT954652	hsa-miR-29a	CLIP-seq
MIRT954653	hsa-miR-29b	CLIP-seq
MIRT954654	hsa-miR-29c	CLIP-seq
MIRT954655	hsa-miR-3074-5p	CLIP-seq
MIRT954656	hsa-miR-3132	CLIP-seq
MIRT954657	hsa-miR-3175	CLIP-seq
MIRT954658	hsa-miR-3180-5p	CLIP-seq
MIRT954659	hsa-miR-3529	CLIP-seq
MIRT954660	hsa-miR-3612	CLIP-seq
MIRT954661	hsa-miR-3614-5p	CLIP-seq
MIRT954662	hsa-miR-3660	CLIP-seq
MIRT954663	hsa-miR-3674	CLIP-seq
MIRT954664	hsa-miR-379	CLIP-seq
MIRT954665	hsa-miR-3914	CLIP-seq
MIRT954666	hsa-miR-3921	CLIP-seq
MIRT954667	hsa-miR-3940-3p	CLIP-seq
MIRT954668	hsa-miR-3974	CLIP-seq
MIRT954669	hsa-miR-4278	CLIP-seq
MIRT954670	hsa-miR-4324	CLIP-seq
MIRT954671	hsa-miR-4465	CLIP-seq
MIRT954672	hsa-miR-4493	CLIP-seq
MIRT954673	hsa-miR-4508	CLIP-seq
MIRT954674	hsa-miR-4526	CLIP-seq
MIRT954675	hsa-miR-4639-3p	CLIP-seq
MIRT954676	hsa-miR-4652-3p	CLIP-seq
MIRT954677	hsa-miR-4653-5p	CLIP-seq
MIRT954678	hsa-miR-4675	CLIP-seq
MIRT954679	hsa-miR-4717-5p	CLIP-seq
MIRT954680	hsa-miR-4741	CLIP-seq
MIRT954681	hsa-miR-4753-5p	CLIP-seq
MIRT954682	hsa-miR-4762-3p	CLIP-seq
MIRT954683	hsa-miR-4763-3p	CLIP-seq
MIRT954684	hsa-miR-483-5p	CLIP-seq
MIRT954685	hsa-miR-486-3p	CLIP-seq
MIRT954686	hsa-miR-518a-5p	CLIP-seq
MIRT954687	hsa-miR-520a-5p	CLIP-seq
MIRT954688	hsa-miR-525-5p	CLIP-seq
MIRT954689	hsa-miR-527	CLIP-seq
MIRT954690	hsa-miR-544b	CLIP-seq
MIRT954691	hsa-miR-549	CLIP-seq
MIRT954692	hsa-miR-598	CLIP-seq
MIRT954693	hsa-miR-650	CLIP-seq
MIRT954694	hsa-miR-873	CLIP-seq
MIRT954661	hsa-miR-3614-5p	CLIP-seq
MIRT954668	hsa-miR-3974	CLIP-seq
MIRT954676	hsa-miR-4652-3p	CLIP-seq
MIRT954686	hsa-miR-518a-5p	CLIP-seq
MIRT954689	hsa-miR-527	CLIP-seq
MIRT954672	hsa-miR-4493	CLIP-seq
MIRT954679	hsa-miR-4717-5p	CLIP-seq
MIRT954681	hsa-miR-4753-5p	CLIP-seq
MIRT954691	hsa-miR-549	CLIP-seq
MIRT954692	hsa-miR-598	CLIP-seq
MIRT954647	hsa-miR-1909	CLIP-seq
MIRT954657	hsa-miR-3175	CLIP-seq
MIRT2217604	hsa-miR-326	CLIP-seq
MIRT2217605	hsa-miR-330-5p	CLIP-seq
MIRT2217606	hsa-miR-34a	CLIP-seq
MIRT2217607	hsa-miR-34c-5p	CLIP-seq
MIRT2217608	hsa-miR-3605-5p	CLIP-seq
MIRT954662	hsa-miR-3660	CLIP-seq
MIRT2217609	hsa-miR-3689d	CLIP-seq
MIRT954666	hsa-miR-3921	CLIP-seq
MIRT2217610	hsa-miR-3940-5p	CLIP-seq
MIRT2217611	hsa-miR-4257	CLIP-seq
MIRT2217612	hsa-miR-4283	CLIP-seq
MIRT2217613	hsa-miR-4443	CLIP-seq
MIRT2217614	hsa-miR-4468	CLIP-seq
MIRT2217615	hsa-miR-4489	CLIP-seq
MIRT954672	hsa-miR-4493	CLIP-seq
MIRT2217616	hsa-miR-449a	CLIP-seq
MIRT2217617	hsa-miR-449b	CLIP-seq
MIRT2217618	hsa-miR-4507	CLIP-seq
MIRT2217619	hsa-miR-451b	CLIP-seq
MIRT954674	hsa-miR-4526	CLIP-seq
MIRT954675	hsa-miR-4639-3p	CLIP-seq
MIRT954677	hsa-miR-4653-5p	CLIP-seq
MIRT2217620	hsa-miR-4696	CLIP-seq
MIRT2217621	hsa-miR-4710	CLIP-seq
MIRT954679	hsa-miR-4717-5p	CLIP-seq
MIRT954681	hsa-miR-4753-5p	CLIP-seq
MIRT2217622	hsa-miR-4792	CLIP-seq
MIRT2217623	hsa-miR-488	CLIP-seq
MIRT954691	hsa-miR-549	CLIP-seq
MIRT954692	hsa-miR-598	CLIP-seq
MIRT2217624	hsa-miR-760	CLIP-seq
MIRT2521645	hsa-miR-1183	CLIP-seq
MIRT954643	hsa-miR-1207-5p	CLIP-seq
MIRT2521646	hsa-miR-1289	CLIP-seq
MIRT954644	hsa-miR-1297	CLIP-seq
MIRT2521647	hsa-miR-1301	CLIP-seq
MIRT2521648	hsa-miR-1321	CLIP-seq
MIRT954647	hsa-miR-1909	CLIP-seq
MIRT2521649	hsa-miR-1915	CLIP-seq
MIRT954650	hsa-miR-26a	CLIP-seq
MIRT954651	hsa-miR-26b	CLIP-seq
MIRT2521650	hsa-miR-28-5p	CLIP-seq
MIRT954652	hsa-miR-29a	CLIP-seq
MIRT954653	hsa-miR-29b	CLIP-seq
MIRT954654	hsa-miR-29c	CLIP-seq
MIRT2521651	hsa-miR-3139	CLIP-seq
MIRT2521652	hsa-miR-3162-5p	CLIP-seq
MIRT954657	hsa-miR-3175	CLIP-seq
MIRT2217608	hsa-miR-3605-5p	CLIP-seq
MIRT2521653	hsa-miR-4433	CLIP-seq
MIRT954671	hsa-miR-4465	CLIP-seq
MIRT2217614	hsa-miR-4468	CLIP-seq
MIRT954672	hsa-miR-4493	CLIP-seq
MIRT2217619	hsa-miR-451b	CLIP-seq
MIRT2521654	hsa-miR-4690-3p	CLIP-seq
MIRT2217620	hsa-miR-4696	CLIP-seq
MIRT2521655	hsa-miR-4700-3p	CLIP-seq
MIRT954679	hsa-miR-4717-5p	CLIP-seq
MIRT2521656	hsa-miR-4722-5p	CLIP-seq
MIRT2521657	hsa-miR-4726-3p	CLIP-seq
MIRT2521658	hsa-miR-4739	CLIP-seq
MIRT954681	hsa-miR-4753-5p	CLIP-seq
MIRT2521659	hsa-miR-4756-5p	CLIP-seq
MIRT954683	hsa-miR-4763-3p	CLIP-seq
MIRT954684	hsa-miR-483-5p	CLIP-seq
MIRT954685	hsa-miR-486-3p	CLIP-seq
MIRT2217623	hsa-miR-488	CLIP-seq
MIRT2521660	hsa-miR-5047	CLIP-seq
MIRT954691	hsa-miR-549	CLIP-seq
MIRT954692	hsa-miR-598	CLIP-seq
MIRT2521661	hsa-miR-665	CLIP-seq
MIRT2521662	hsa-miR-708	CLIP-seq
MIRT2521645	hsa-miR-1183	CLIP-seq
MIRT2521646	hsa-miR-1289	CLIP-seq
MIRT954644	hsa-miR-1297	CLIP-seq
MIRT2521647	hsa-miR-1301	CLIP-seq
MIRT2521648	hsa-miR-1321	CLIP-seq
MIRT2521649	hsa-miR-1915	CLIP-seq
MIRT954650	hsa-miR-26a	CLIP-seq
MIRT954651	hsa-miR-26b	CLIP-seq
MIRT2521650	hsa-miR-28-5p	CLIP-seq
MIRT2521651	hsa-miR-3139	CLIP-seq
MIRT2521652	hsa-miR-3162-5p	CLIP-seq
MIRT2521653	hsa-miR-4433	CLIP-seq
MIRT954671	hsa-miR-4465	CLIP-seq
MIRT954672	hsa-miR-4493	CLIP-seq
MIRT2521654	hsa-miR-4690-3p	CLIP-seq
MIRT2521655	hsa-miR-4700-3p	CLIP-seq
MIRT954679	hsa-miR-4717-5p	CLIP-seq
MIRT2521656	hsa-miR-4722-5p	CLIP-seq
MIRT2521657	hsa-miR-4726-3p	CLIP-seq
MIRT2521658	hsa-miR-4739	CLIP-seq
MIRT954681	hsa-miR-4753-5p	CLIP-seq
MIRT2521659	hsa-miR-4756-5p	CLIP-seq
MIRT2521660	hsa-miR-5047	CLIP-seq
MIRT954691	hsa-miR-549	CLIP-seq
MIRT954692	hsa-miR-598	CLIP-seq
MIRT2521661	hsa-miR-665	CLIP-seq
MIRT2521662	hsa-miR-708	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000398	Process	MRNA splicing, via spliceosome	IBA
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	28076346
GO:0000398	Process	MRNA splicing, via spliceosome	NAS	30975767
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0005515	Function	Protein binding	IPI	9774689, 16723661, 17314511, 17332742, 17577209, 20858735, 22365833, 23793891, 27173435, 28514442, 30538148, 32703943, 33961781, 35271311, 39251607
GO:0005525	Function	GTP binding	IEA
GO:0005634	Component	Nucleus	IDA	28076346
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	30975767
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005681	Component	Spliceosomal complex	IPI	30975767
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0015030	Component	Cajal body	IDA	15257298
GO:0016020	Component	Membrane	HDA	19946888
GO:0016607	Component	Nuclear speck	IDA	15257298
GO:0030623	Function	U5 snRNA binding	IBA
GO:0042220	Process	Response to cocaine	IEA
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IBA
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IDA	23793891
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IPI	30975767
GO:0071005	Component	U2-type precatalytic spliceosome	IDA	29361316
GO:0071007	Component	U2-type catalytic step 2 spliceosome	IBA
GO:0071007	Component	U2-type catalytic step 2 spliceosome	IDA	28076346
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638
GO:0071466	Process	Cellular response to xenobiotic stimulus	IEA

MIM	HGNC	e!Ensembl
603892	30858	ENSG00000108883

Q15029

Protein name

116 kDa U5 small nuclear ribonucleoprotein component (Elongation factor Tu GTP-binding domain-containing protein 2) (SNU114 homolog) (hSNU114) (U5 snRNP-specific protein, 116 kDa) (U5-116 kDa)

Protein 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, P

PDB

3JCR , 5MQF , 5O9Z , 5XJC , 5YZG , 5Z56 , 5Z57 , 5Z58 , 6AH0 , 6AHD , 6FF4 , 6FF7 , 6ICZ , 6ID0 , 6ID1 , 6QDV , 6QW6 , 6QX9 , 6ZYM , 7AAV , 7ABF , 7ABG , 7ABI , 7DVQ , 7QTT , 7W59 , 7W5A , 7W5B , 8C6J , 8CH6 , 8H6E , 8H6J , 8H6K , 8H6L , 8I0P , 8I0R , 8I0S , 8I0T , 8I0U , 8I0V , 8I0W , 8Q7N , 8Q7Q , 8Q7V , 8Q7W , 8Q7X , 8Q91 , 8QO9 , 8QOZ , 8QP8 , 8QP9

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16004	EFTUD2	3 → 110	116 kDa U5 small nuclear ribonucleoprotein component N-terminus	Family
PF00009	GTP_EFTU	127 → 440	Elongation factor Tu GTP binding domain	Domain
PF03144	GTP_EFTU_D2	489 → 566	Elongation factor Tu domain 2	Domain
PF14492	EFG_III	584 → 656	Elongation Factor G, domain III	Domain
PF03764	EFG_IV	703 → 824	Elongation factor G, domain IV	Domain
PF00679	EFG_C	826 → 915	Elongation factor G C-terminus	Domain

Sequence

MDTDLYDEFGNYIGPELDSDEDDDELGRETKDLDEMDDDDDDDDVGDHDDDHPGMEVVLH
EDKKYYPTAEEVYGPEVETIVQEEDTQPLTEPIIKPVKTKKFTLMEQTLPVTVYEMDFLA
DLMDNSELIRNVTLCGHLHHGKTCFVDCLIEQTHPEIRKRYDQDLCYTDILFTEQERGVG
IKSTPVTVVLPDTKGKSYLFNIMDTPGHVNFSDEVTAGLRISDGVVLFIDAAEGVMLNTE
RLIKHAVQERLAVTVCINKIDRLILELKLPPTDAYYKLRHIVDEVNGLISMYSTDENLIL
SPLLGNVCFSSSQYSICFTLGSFAKIYADTFGDINYQEFAKRLWGDIYFNPKTRKFTKKA
PTSSSQRSFVEFILEPLYKILAQVVGDVDTSLPRTLDELGIHLTKEELKLNIRPLLRLVC
KKFFGEFTGFVDMCVQHIPSPKVGAKPKIEHTYTGGVDSDLGEAMSDCDPDGPLMCHTTK
MYSTDDGVQFHAFGRVLSGTIHAGQPVKVLGENYTLEDEEDSQICTVGRLWISVARYHIE
VNRVPAGNWVLIEGVDQPIVKTATITEPRGNEEAQIFRPLKFNTTSVIKIAVEPVNPSEL
PKMLDGLRKVNKSYPSLTTKVEESGEHVILGTGELYLDCVMHDLRKMYSEIDIKVADPVV
TFCETVVETSSLKCFAETPNKKNKITMIAEPLEKGLAEDIENEVVQITWNRKKLGEFFQT
KYDWDLLAARSIWAFGPDATGPNILVDDTLPSEVDKALLGSVKDSIVQGFQWGTREGPLC
DELIRNVKFKILDAVVAQEPLHRGGGQIIPTARRVVYSAFLMATPRLMEPYYFVEVQAPA
DCVSAVYTVLARRRGHVTQDAPIPGSPLYTIKAFIPAIDSFGFETDLRTHTQGQAFSLSV
FHHWQIVPGDPLDKSIVIRPLEPQPAPHLAREFMIKTRRRKGLSEDVSISKFFDDPMLLE
LAKQDVVLNYPM

Sequence length

972

Interactions

View interactions

	KEGG		Reactome
	Spliceosome		mRNA Splicing - Major Pathway mRNA Splicing - Minor Pathway

178

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Chromatinopathy	Likely pathogenic	rs2050609487	RCV001261354
EFTUD2-related disorder	Likely pathogenic	rs866846166, rs2508722438	RCV003408284 RCV003902027
Esophageal atresia/tracheoesophageal fistula	Pathogenic	rs2050493812	RCV001172289
Global developmental delay	Likely pathogenic; Pathogenic	rs1057518932, rs2508840177	RCV000415160 RCV001255393
Hereditary syndromic Pierre Robin syndrome	Pathogenic	rs886039349	RCV005416114
Mandibulofacial dysostosis	Pathogenic	rs2508762950	RCV005242402
Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic; Likely pathogenic	rs2050697632, rs2051113996, rs2145503920, rs2145474253, rs2145455322, rs2145503914, rs2145532417, rs2145431661, rs2145516424, rs2145461096, rs2508866762, rs1240441464, rs2145469964, rs2145460853, rs781402078 View all (57 more)	RCV001331176 RCV001331178 RCV001788523 RCV001781026 RCV001781027 RCV001807963 RCV005868409 RCV003147712 RCV005410944 RCV002225056 RCV002292385 RCV002250879 RCV002262197 RCV002272582 RCV002272746 RCV002279879 RCV003223434 RCV002285087 RCV006257361 RCV002319774 RCV002471344 RCV002472202 RCV000185561 RCV000192370 RCV000194510 RCV000197354 RCV003128095 RCV003148518 RCV003221339 RCV001331177 RCV003314266 RCV003323275 RCV003330308 RCV003884005 RCV003447680 RCV003455831 RCV003486006 RCV003883292 RCV003985216 RCV003985959 RCV003985985 RCV003990847 RCV004556002 RCV000679887 RCV000023353 RCV000023354 RCV000023355 RCV000023356 RCV000023357 RCV000024338 RCV000853362 RCV003144289 RCV000496140 RCV000504228 RCV000578176 RCV000033145 RCV000033146 RCV000626044 RCV001375969 RCV000851192 RCV000856737 RCV000989931 RCV001003415 RCV001194619 RCV001198698 RCV001249614 RCV001255734 RCV001255737 RCV001255788 RCV001255730 RCV001265543 RCV005408790
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1597797917	RCV002279566
Papillary renal cell carcinoma type 1	Likely pathogenic	rs2508729987	RCV005931101
See cases	Likely pathogenic; Pathogenic	rs2145581806, rs2508783361, rs996949678	RCV002252950 RCV003156187 RCV002252231
Seizure	Likely pathogenic	rs1057518932	RCV000415160

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Uncertain significance	rs2165896, rs34741258, rs368997855	RCV005915389 RCV005923339 RCV005926999
Cholangiocarcinoma	Benign	rs6503406, rs2165896	RCV005911457 RCV005915395
Familial cancer of breast	Benign	rs150415160	RCV005922238
Familial prostate cancer	Likely benign	rs1313559869	RCV005915329
Gastric cancer	Benign; Likely benign	rs2165896, rs34741258, rs775710945	RCV005915391 RCV005923341 RCV005925393
Malignant lymphoma, large B-cell, diffuse	Benign	rs6503406, rs2165896	RCV005911455 RCV005915390
Malignant tumor of esophagus	Benign	rs34741258	RCV005923340
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance; Likely benign	rs2165896, rs750014204, rs572335936, rs144282743	RCV005915392 RCV005931675 RCV005930607 RCV005934971
Thymoma	Benign	rs2165896, rs34741258	RCV005915394 RCV005923342
Uterine carcinosarcoma	Benign	rs6503406, rs2165896	RCV005911456 RCV005915393
Uterine corpus endometrial carcinoma	Benign	rs141160645, rs34741258	RCV005915713 RCV005923343

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Asthenozoospermia	Associate	33746583
Branchio Oto Renal Syndrome	Associate	23879989
Carcinoma Renal Cell	Associate	40650074
CHARGE Syndrome	Associate	23239648
Cognition Disorders	Associate	26566043
Colorectal Neoplasms	Associate	38163859
Congenital Microtia	Associate	23239648
Craniofacial Abnormalities	Associate	30504818, 31304552
Endometrial Neoplasms	Associate	36068443
Esophageal Atresia	Associate	23695276, 23879989
Esophageal atresia with or without tracheoesophageal fistula	Associate	32641753
Facial Pain	Associate	23239648
Genee Wiedemann syndrome	Associate	23879989
Intellectual Disability	Associate	23695276, 23879989, 25790162
Mandibulofacial Dysostosis	Associate	23695276, 25790162
Melanoma	Associate	16247014
Microcephaly	Associate	23239648, 23695276, 32943010
Multiple Myeloma	Associate	39657701
Neoplasms	Associate	32537629, 34257558, 36068443, 38163859, 40650074
Parkinson Disease	Associate	26566043
Retinitis Pigmentosa	Associate	17317632
Thumb deformity alopecia pigmentation anomaly	Associate	23879989
Urinary Bladder Neoplasms	Associate	33685397
Vitamin D Deficiency	Associate	32641753
Zygomatic Fractures	Associate	23239648, 23879989

EFTUD2 (elongation factor Tu GTP binding domain containing 2)