EFTUD2 (elongation factor Tu GTP binding domain containing 2)

Gene

• Entrez ID: 9343
• Gene name: Elongation factor Tu GTP binding domain containing 2
• Gene symbol: EFTUD2
• Synonyms (NCBI Gene): MFDGA, MFDM, SNRNP116, Snrp116, Snu114, U5-116KD
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 603892
• HGNC: 30858
• e!Ensembl: ENSG00000108883

Protein

• UniProt ID: 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

Pathways

KEGG:

Spliceosome

Reactome:

mRNA Splicing - Major Pathway
mRNA Splicing - Minor Pathway

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Chromatinopathy	Likely pathogenic	rs2050609487	RCV001261354	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EFTUD2-related disorder	Likely pathogenic	rs866846166, rs2508722438	RCV003408284 RCV003902027	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Esophageal atresia/tracheoesophageal fistula	Pathogenic	rs2050493812	RCV001172289	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic; Pathogenic	rs1057518932, rs2508840177	RCV000415160 RCV001255393	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary syndromic Pierre Robin syndrome	Pathogenic	rs886039349	RCV005416114	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mandibulofacial dysostosis	Pathogenic	rs2508762950	RCV005242402	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mandibulofacial dysostosis-microcephaly syndrome	Pathogenic; Likely pathogenic	rs2050697632, rs2051113996, rs2145503920, rs2145474253, rs2145455322, rs2145503914, rs2145532417, rs2145431661, rs2145516424, rs2145461096, rs2508866762, rs1240441464, rs2145469964, rs2145460853, rs781402078, rs2145438293, rs2508753938, rs2508834526, rs2508714004, rs2508767298, rs2508827069, rs2508729990, rs794729651, rs797045551, rs797045550, rs863224868, rs2145487497, rs2508808238, rs2508823272, rs886039349, rs2508740764, rs2508834808, rs2508718340, rs2508808338, rs2508819800, rs2508728187, rs2508762950, rs2508718162, rs2508747614, rs2508808547, rs2508731371, rs2508767267, rs2508718746, rs1057520673, rs387906877, rs387906878, rs879253725, rs879253726, rs387906879, rs879253727, rs1085307647, rs749855263, rs1135401812, rs1555564341, rs1555564126, rs397515431, rs879253728, rs1555565774, rs996949678, rs1597789186, rs1597797917, rs1597807512, rs1597795170, rs2051032338, rs2050473924, rs2051181820, rs2508767056, rs2508808119, rs2508840210, rs2508834497, rs2050474390, rs2050507811	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1597797917	RCV002279566	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Papillary renal cell carcinoma type 1	Likely pathogenic	rs2508729987	RCV005931101	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic	rs1057518932	RCV000415160	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL ATRESIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial prostate cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC SYNDROMIC PIERRE ROBIN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS B	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthenozoospermia	Asthenozoospermia	Pubtator	33746583	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	40650074	Associate	★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	Charge syndrome	Pubtator	23239648	Associate	★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	BEFREE	25387991		★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	26566043	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	31278373		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	31278373		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	38163859	Associate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conductive hearing loss, bilateral	Hearing Loss	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	31806011		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Microtia	Congenital microtia	Pubtator	23239648	Associate	★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	BEFREE	23239648		★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	GENOMICS_ENGLAND_DG	9233818		★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniofacial Abnormalities	Craniofacial abnormalities	Pubtator	30504818, 31304552	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	16760738, 19921636, 22305528, 22541558, 22581936, 23188108, 23239648, 23879989, 24266672, 24470203, 25735261, 25790162, 26118977, 26507355, 27670155		★☆☆☆☆ Found in Text Mining only
Dysostoses	Dysostoses	BEFREE	24805776		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36068443	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	BEFREE	23188108, 23695276, 23879989, 25387991		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Atresia	Esophageal atresia	Pubtator	23695276, 23879989	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	BEFREE	31806011		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Goldenhar Syndrome	Goldenhar Syndrome	BEFREE	23188108		★☆☆☆☆ Found in Text Mining only
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate	Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate	GENOMICS_ENGLAND_DG	19334086, 22305528, 23188108, 26118977, 9233818		★☆☆☆☆ Found in Text Mining only
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate	Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate	BEFREE	22305528, 23239648, 24266672, 24470203, 25865758, 26118977, 27670155, 27899647, 28612151, 28643921, 30343593, 31276534, 31806011		★☆☆☆☆ Found in Text Mining only
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate	Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate	ORPHANET_DG	22305528		★☆☆☆☆ Found in Text Mining only
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate	Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate	UNIPROT_DG	22305528		★☆☆☆☆ Found in Text Mining only
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate	Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate	Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	26566043		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	23695276, 23879989, 25790162	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23879989, 25790162, 25865758		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mandibulofacial Dysostosis	Mandibulofacial Dysostosis	BEFREE	23188108, 23695276, 23879989, 25387991, 25865758		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mandibulofacial Dysostosis	Mandibulofacial dysostosis	Pubtator	23695276, 25790162	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mandibulofacial Dysostosis	Mandibulofacial Dysostosis	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mandibulofacial dysostosis-microcephaly syndrome	Mandibulofacial Dysostosis-Microcephaly Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Melanoma	Melanoma	Pubtator	16247014	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	23188108, 23695276, 25790162, 28643921, 31806011		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	Pubtator	23239648, 23695276, 32943010	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	16760738, 19921636, 22305528, 22541558, 22581936, 23188108, 23239648, 23879989, 24266672, 24470203, 25735261, 25790162, 26118977, 26507355, 27670155		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	39657701	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	27899647		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	31806011		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	26566043	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly preaxial type 1	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	BEFREE	24805776		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	17317632		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	17317632	Associate	★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	31806011		★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	33685397	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	32641753	Associate	★☆☆☆☆ Found in Text Mining only