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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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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