Homo sapiens Gene: EFTUD2
Summary
InnateDB Gene IDBG-108764.1
Last Modified 2018-06-05 [Report errors or provide feedback]
Gene Symbol EFTUD2
Gene Name elongation factor Tu GTP binding domain containing 2
Synonyms MFDGA; MFDM; SNRNP116; Snrp116; Snu114; U5-116KD;
Species Homo sapiens
Ensembl Gene ENSG00000108883
Encoded Proteins
elongation factor Tu GTP binding domain containing 2
elongation factor Tu GTP binding domain containing 2
elongation factor Tu GTP binding domain containing 2
elongation factor Tu GTP binding domain containing 2
elongation factor Tu GTP binding domain containing 2
elongation factor Tu GTP binding domain containing 2
elongation factor Tu GTP binding domain containing 2
elongation factor Tu GTP binding domain containing 2
elongation factor Tu GTP binding domain containing 2
elongation factor Tu GTP binding domain containing 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation
Summary
EFTUD2 is a novel innate immune regulator that restricts hepatitis C virus infection through an RIG-I/MDA5-mediated, JAK-STAT-independent pathway.
EFTUD2 is a novel innate immune antiviral regulator that restricts hepatitis C virus infection through a DDX58/IFIH1-mediated, JAK-STAT-independent pathway.
Entrez Gene
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 encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:44849943-44899662
Strand Reverse strand
Band q21.31
Transcripts
ENST00000402521 ENSP00000385873
ENST00000426333 ENSP00000392094
ENST00000585616
ENST00000585794
ENST00000586276
ENST00000586654
ENST00000586875
ENST00000587914
ENST00000587957
ENST00000588340
ENST00000588374 ENSP00000467639
ENST00000589211
ENST00000589475
ENST00000589769 ENSP00000465051
ENST00000589825
ENST00000590105
ENST00000590124 ENSP00000467249
ENST00000590367
ENST00000590977
ENST00000591382 ENSP00000467805
ENST00000591856 ENSP00000468284
ENST00000592408
ENST00000592576 ENSP00000465058
ENST00000592701 ENSP00000464908
ENST00000593072 ENSP00000464882
ENST00000593200
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 223 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Experimentally validated
Total 223 [view]
Protein-Protein 219 [view]
Protein-DNA 4 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 6 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000166 nucleotide binding
GO:0003723 RNA binding
GO:0003924 GTPase activity
GO:0005515 protein binding
GO:0005525 GTP binding
Biological Process
GO:0000398 mRNA splicing, via spliceosome
GO:0006397 mRNA processing
GO:0008380 RNA splicing
GO:0035690 cellular response to drug
GO:0042220 response to cocaine
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005681 spliceosomal complex
GO:0005829 cytosol
GO:0015030 Cajal body
GO:0016020 membrane
GO:0016607 nuclear speck
GO:0046540 U4/U6 x U5 tri-snRNP complex
GO:0071007 U2-type catalytic step 2 spliceosome
GO:0071013 catalytic step 2 spliceosome
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
mRNA Splicing pathway
Processing of Capped Intron-Containing Pre-mRNA pathway
Metabolism of RNA pathway
mRNA Splicing - Minor Pathway pathway
mRNA Splicing - Major Pathway pathway
KEGG
Spliceosome pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL K7EIT3
UniProt Splice Variant
Entrez Gene 9343
UniGene
RefSeq NM_001142605 NM_001258353 NM_001258354 NM_004247
HUGO HGNC:30858
OMIM 603892
CCDS CCDS11489 CCDS45707 CCDS59295
HPRD
IMGT
EMBL AC015936
GenPept
RNA Seq Atlas 9343