InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: EFTUD2

Summary

InnateDB Gene

IDBG-54412.6

Last Modified

2014-10-13 [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

IDBP-294871

elongation factor Tu GTP binding domain containing 2

IDBP-379789

elongation factor Tu GTP binding domain containing 2

IDBP-763217

IDBP-758802

IDBP-764966

IDBP-761874

IDBP-759901

IDBP-758419

IDBP-759320

IDBP-760320

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

InnateDB Annotation

Summary

PMID 25878102

EFTUD2 is a novel innate immune regulator that restricts hepatitis C virus infection through an RIG-I/MDA5-mediated, JAK-STAT-independent pathway.

PMID 25878102

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
ENST00000590124	ENSP00000467249
ENST00000592576	ENSP00000465058
ENST00000587957
ENST00000590977
ENST00000590367
ENST00000586875
ENST00000587914
ENST00000592408
ENST00000588374	ENSP00000467639
ENST00000588340
ENST00000592701	ENSP00000464908
ENST00000593200
ENST00000589769	ENSP00000465051
ENST00000589211
ENST00000591382	ENSP00000467805
ENST00000590105
ENST00000589825
ENST00000585616
ENST00000593072	ENSP00000464882
ENST00000585794
ENST00000586654
ENST00000589475
ENST00000591856	ENSP00000468284
ENST00000586276

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 147 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	147 [view]
Protein-Protein	144 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003924	GTPase activity
GO:0005515	protein binding
GO:0005525	GTP binding
GO:0044822	poly(A) RNA binding

Biological Process

GO:0000398	mRNA splicing, via spliceosome
GO:0006184	GTP catabolic process
GO:0006397	mRNA processing
GO:0007264	small GTPase mediated signal transduction
GO:0008380	RNA splicing
GO:0010467	gene expression
GO:0045087	innate immune response (InnateDB)

Cellular Component

GO:0005622	intracellular
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005681	spliceosomal complex
GO:0005737	cytoplasm
GO:0015030	Cajal body
GO:0016020	membrane
GO:0016607	nuclear speck
GO:0071013	catalytic step 2 spliceosome

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000020929

View Gene Order

ENSBTAG00000013526

Not yet available

Pathways

NETPATH

REACTOME

REACT_467

mRNA Splicing - Major Pathway pathway

REACT_1753

mRNA Splicing - Minor Pathway pathway

REACT_125

Processing of Capped Intron-Containing Pre-mRNA pathway

REACT_1735

mRNA Splicing pathway

REACT_71

Gene Expression pathway

KEGG

hsa03040

Spliceosome pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.151787

RefSeq

NM_001142605 NM_001258353 NM_001258354 NM_004247

HUGO

OMIM

CCDS

CCDS11489 CCDS45707 CCDS59295

HPRD

04869

IMGT

EMBL

GenPept

RNA Seq Atlas