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Eftud2 elongation factor Tu GTP binding domain containing 2 [ Mus musculus (house mouse) ]

Gene ID: 20624, updated on 11-Apr-2024

Summary

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Official Symbol
Eftud2provided by MGI
Official Full Name
elongation factor Tu GTP binding domain containing 2provided by MGI
Primary source
MGI:MGI:1336880
See related
Ensembl:ENSMUSG00000020929 AllianceGenome:MGI:1336880
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
116kDa; Snrp116; U5-116kD
Summary
Predicted to enable GTPase activity and U5 snRNA binding activity. Predicted to be involved in mRNA splicing, via spliceosome. Predicted to act upstream of or within RNA splicing and mRNA processing. Located in nucleus. Is expressed in several structures, including brain; branchial arch; embryo ectoderm; extraembryonic component; and optic cup. Human ortholog(s) of this gene implicated in esophageal atresia and mandibulofacial dysostosis, Guion-Almeida type. Orthologous to human EFTUD2 (elongation factor Tu GTP binding domain containing 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in CNS E11.5 (RPKM 41.6), whole brain E14.5 (RPKM 30.4) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Eftud2 in Genome Data Viewer
Location:
11 E1; 11 66.48 cM
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (102729298..102771999, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (102838472..102880984, complement)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 22683 Neighboring gene HIG1 domain family, member 1B Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:102742482-102742665 Neighboring gene coiled-coil domain containing 103 Neighboring gene family with sequence similarity 187, member A Neighboring gene glial fibrillary acidic protein Neighboring gene predicted gene, 34560

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. An evolutionarily conserved U5 snRNP-specific protein is a GTP-binding factor closely related to the ribosomal translocase EF-2. Fabrizio P, et al. EMBO J, 1997 Jul 1. PMID 9233818, Free PMC Article
  2. Loss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse. Beauchamp MC, et al. PLoS One, 2019. PMID 31276534, Free PMC Article
  3. Comparative genomics RNAi screen identifies Eftud2 as a novel regulator of innate immunity. De Arras L, et al. Genetics, 2014 Jun. PMID 24361939, Free PMC Article
  4. Distinct changes in intranuclear lamin A/C organization during myoblast differentiation. Muralikrishna B, et al. J Cell Sci, 2001 Nov. PMID 11739632
  5. Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53. Beauchamp MC, et al. Hum Mol Genet, 2021 May 28. PMID 33601405, Free PMC Article

See all (34) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53.
    Title: Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53.
  2. Eftud2 regulates alternative splicing of MyD88 to control the innate immune response in macrophages
    Title: Comparative genomics RNAi screen identifies Eftud2 as a novel regulator of innate immunity.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (2) 
  • Endonuclease-mediated (5)  1 citation

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables GTP binding IEA
Inferred from Electronic Annotation
more info
  
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables U5 snRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within RNA splicing IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within mRNA processing IEA
Inferred from Electronic Annotation
more info
  
involved_in mRNA splicing, via spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mRNA splicing, via spliceosome ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in Cajal body ISO
Inferred from Sequence Orthology
more info
  
part_of U2-type catalytic step 2 spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of U2-type catalytic step 2 spliceosome ISO
Inferred from Sequence Orthology
more info
  
part_of U2-type precatalytic spliceosome ISO
Inferred from Sequence Orthology
more info
  
part_of U4/U6 x U5 tri-snRNP complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of U4/U6 x U5 tri-snRNP complex ISO
Inferred from Sequence Orthology
more info
  
part_of catalytic step 2 spliceosome ISO
Inferred from Sequence Orthology
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
  
located_in nuclear speck ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  
part_of spliceosomal complex IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
116 kDa U5 small nuclear ribonucleoprotein component
Names
U5 small nuclear ribonucleoprotein 116 kDa
U5 snRNP-specific protein, 116 kDa
U5-116 kDa
elongation factor Tu GTP-binding domain-containing protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001109995.1 → NP_001103465.1  116 kDa U5 small nuclear ribonucleoprotein component isoform b

    See identical proteins and their annotated locations for NP_001103465.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents the longer transcript and encodes the longer protein (isoform b).
    Source sequence(s)
    BC054778, BQ886207, BY074102
    Consensus CDS
    CCDS48948.1
    UniProtKB/TrEMBL
    A2AH85, Q3TMY8, Q3U5Q3
    Related
    ENSMUSP00000021306.8, ENSMUST00000021306.14
    Conserved Domains (2) summary
    pfam16004
    Location:4 → 110
    EFTUD2; 116 kDa U5 small nuclear ribonucleoprotein component N-terminus
    cl27769
    Location:122 → 954
    GTP_EFTU; Elongation factor Tu GTP binding domain

  2. NM_011431.3 → NP_035561.1  116 kDa U5 small nuclear ribonucleoprotein component isoform a

    See identical proteins and their annotated locations for NP_035561.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) uses an alternate splice site in the 5' coding region compared to variant 2. The resulting protein (isoform a) is shorter but has the same N- and C-termini compared to isoform b.
    Source sequence(s)
    BC054778, BY074102
    Consensus CDS
    CCDS48947.1
    UniProtKB/Swiss-Prot
    O08810
    UniProtKB/TrEMBL
    Q3TMY8, Q3U5Q3, Q543F1
    Related
    ENSMUSP00000102675.2, ENSMUST00000107060.8
    Conserved Domains (2) summary
    cl30786
    Location:121 → 953
    FusA; Translation elongation factor EF-G, a GTPase [Translation, ribosomal structure and biogenesis]
    pfam16004
    Location:4 → 109
    EFTUD2; 116 kDa U5 small nuclear ribonucleoprotein component N-terminus

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    102729298..102771999 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006532665.5 → XP_006532728.1  116 kDa U5 small nuclear ribonucleoprotein component isoform X1

    UniProtKB/TrEMBL
    Q3TMY8, Q3U5Q3
    Conserved Domains (2) summary
    cl30786
    Location:119 → 951
    FusA; Translation elongation factor EF-G, a GTPase [Translation, ribosomal structure and biogenesis]
    pfam16004
    Location:4 → 107
    EFTUD2; 116 kDa U5 small nuclear ribonucleoprotein component N-terminus
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O08810.1 GenPept UniProtKB/Swiss-Prot:O08810

Gene LinkOut

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