• Gene id: 9343

Gene Summary

• Gene Symbol: EFTUD2   Gene   UCSC   Ensembl
• Aliases: MFDGA, MFDM, SNRNP116, Snrp116, Snu114, U5-116KD
• Gene name: elongation factor Tu GTP binding domain containing 2
• Alternate names: 116 kDa U5 small nuclear ribonucleoprotein component, SNU114 homolog, U5 snRNP-specific protein, 116 kDa, elongation factor Tu GTP-binding domain-containing protein 2, hSNU114,
• Gene location: 17q21.31 (44899624: 44849947)     Exons: 29     NC_000017.11
• Gene summary(Entrez): 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
• OMIM: 603888

Protein Summary

• Protein general information: Q15029  
  • 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)
  • Length: 972  
  • Mass: 109436
• Sequence:

  MDTDLYDEFGNYIGPELDSDEDDDELGRETKDLDEMDDDDDDDDVGDHDDDHPGMEVVLHEDKKYYPTAEEVYGP
  EVETIVQEEDTQPLTEPIIKPVKTKKFTLMEQTLPVTVYEMDFLADLMDNSELIRNVTLCGHLHHGKTCFVDCLI
  EQTHPEIRKRYDQDLCYTDILFTEQERGVGIKSTPVTVVLPDTKGKSYLFNIMDTPGHVNFSDEVTAGLRISDGV
  VLFIDAAEGVMLNTERLIKHAVQERLAVTVCINKIDRLILELKLPPTDAYYKLRHIVDEVNGLISMYSTDENLIL
  SPLLGNVCFSSSQYSICFTLGSFAKIYADTFGDINYQEFAKRLWGDIYFNPKTRKFTKKAPTSSSQRSFVEFILE
  PLYKILAQVVGDVDTSLPRTLDELGIHLTKEELKLNIRPLLRLVCKKFFGEFTGFVDMCVQHIPSPKVGAKPKIE
  HTYTGGVDSDLGEAMSDCDPDGPLMCHTTKMYSTDDGVQFHAFGRVLSGTIHAGQPVKVLGENYTLEDEEDSQIC
  TVGRLWISVARYHIEVNRVPAGNWVLIEGVDQPIVKTATITEPRGNEEAQIFRPLKFNTTSVIKIAVEPVNPSEL
  PKMLDGLRKVNKSYPSLTTKVEESGEHVILGTGELYLDCVMHDLRKMYSEIDIKVADPVVTFCETVVETSSLKCF
  AETPNKKNKITMIAEPLEKGLAEDIENEVVQITWNRKKLGEFFQTKYDWDLLAARSIWAFGPDATGPNILVDDTL
  PSEVDKALLGSVKDSIVQGFQWGTREGPLCDELIRNVKFKILDAVVAQEPLHRGGGQIIPTARRVVYSAFLMATP
  RLMEPYYFVEVQAPADCVSAVYTVLARRRGHVTQDAPIPGSPLYTIKAFIPAIDSFGFETDLRTHTQGQAFSLSV
  FHHWQIVPGDPLDKSIVIRPLEPQPAPHLAREFMIKTRRRKGLSEDVSISKFFDDPMLLELAKQDVVLNYPM

• Structural information:
  • Protein Domains: (127..40-)
    (/note="tr-type-G)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01059"-)
  • Interpro: IPR041095  IPR035647  IPR000640  IPR004161  IPR031950   IPR027417  IPR020568  IPR014721  IPR005225  IPR000795  IPR009000  IPR005517  IPR035655  
  • Prosite: PS51722
  • CDD: cd04098
  • PDB: 3JCR 5MQF 5O9Z 5XJC 5YZG 5Z56 5Z57 5Z58 6AH0 6AHD 6FF4 6FF7 6ICZ 6ID0 6ID1 6QDV 6QW6 6QX9
  • PDBsum: 3JCR 5MQF 5O9Z 5XJC 5YZG 5Z56 5Z57 5Z58 6AH0 6AHD 6FF4 6FF7 6ICZ 6ID0 6ID1 6QDV 6QW6 6QX9
  • STRING: ENSP00000392094
• Other Databases: GeneCards:  EFTUD2  Malacards:  EFTUD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990904	ribonucleoprotein complex	IBA	cellular component
GO:0003924	GTPase activity	IBA	molecular function
GO:0000398	mRNA splicing, via spliceosome	IBA	biological process
GO:0071007	U2-type catalytic step 2 spliceosome	IBA	cellular component
GO:0046540	U4/U6 x U5 tri-snRNP complex	IBA	cellular component
GO:0030623	U5 snRNA binding	IBA	molecular function
GO:0071013	catalytic step 2 spliceosome	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IDA	biological process
GO:0071007	U2-type catalytic step 2 spliceosome	IDA	cellular component
GO:0071005	U2-type precatalytic spliceosome	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0008380	RNA splicing	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0035690	cellular response to drug	IEA	biological process
GO:0042220	response to cocaine	IEA	biological process
GO:0015030	Cajal body	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0046540	U4/U6 x U5 tri-snRNP complex	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03040	Spliceosome

Diseases

Associated diseases	References
Mandibulofacial dysostosis with microcephaly	KEGG:H01838
Mandibulofacial dysostosis with microcephaly	KEGG:H01838
Mandibulofacial dysostosis, Guion-Almeida type	PMID:22305528
Esophageal atresia	PMID:23188108
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R