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    eftud2 elongation factor Tu GTP binding domain containing 2 [ Danio rerio (zebrafish) ]

    Gene ID: 393480, updated on 9-Dec-2024

    Summary

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    Official Symbol
    eftud2provided by ZNC
    Official Full Name
    elongation factor Tu GTP binding domain containing 2provided by ZNC
    Primary source
    ZFIN:ZDB-GENE-040426-1569
    See related
    Ensembl:ENSDARG00000012261 AllianceGenome:ZFIN:ZDB-GENE-040426-1569
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    zgc:66214; wu:fi20f05
    Summary
    Predicted to enable GTPase activity and U5 snRNA binding activity. Acts upstream of or within several processes, including camera-type eye development; mRNA splicing, via spliceosome; and regulation of neuron differentiation. Predicted to be located in nucleus. Predicted to be part of U2-type catalytic step 2 spliceosome and U4/U6 x U5 tri-snRNP complex. Predicted to be active in cytosol. Is expressed in head; immature eye; and nervous system. Used to study Treacher Collins syndrome and mandibulofacial dysostosis, Guion-Almeida type. Human ortholog(s) of this gene implicated in esophageal atresia; hepatitis B; hepatocellular carcinoma; mandibulofacial dysostosis, Guion-Almeida type; and microcephaly. Orthologous to human EFTUD2 (elongation factor Tu GTP binding domain containing 2). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See eftud2 in Genome Data Viewer
    Location:
    chromosome: 3
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 3 NC_007114.7 (16389020..16413635, complement)
    105 previous assembly GRCz10 (GCF_000002035.5) 3 NC_007114.6 (16239218..16263835, complement)

    Chromosome 3 - NC_007114.7Genomic Context describing neighboring genes Neighboring gene branched chain keto acid dehydrogenase E1 subunit beta, like Neighboring gene ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 Neighboring gene gap junction protein gamma 1 Neighboring gene potassium inwardly rectifying channel subfamily J member 12b Neighboring gene myosin-9

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model. Deml B, et al. Birth Defects Res A Clin Mol Teratol, 2015 Jul. PMID 26118977, Free PMC Article
    2. EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway. Wu J, et al. Hum Genomics, 2019 Dec 5. PMID 31806011, Free PMC Article
    3. Knocking Down Snrnp200 Initiates Demorphogenesis of Rod Photoreceptors in Zebrafish. Liu Y, et al. J Ophthalmol, 2015. PMID 26137319, Free PMC Article
    4. PRPF4 mutations cause autosomal dominant retinitis pigmentosa. Chen X, et al. Hum Mol Genet, 2014 Jun 1. PMID 24419317
    5. Triclosan regulates alternative splicing events of nerve-related genes through RNA-binding protein CELF2 to induce zebrafish neurotoxicity. Wang D, et al. J Hazard Mater, 2021 Jul 5. PMID 33621777

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. study has established that eftud2 functions in RNA splicing during neural development
      Title: Spliceosomal protein eftud2 mutation leads to p53-dependent apoptosis in zebrafish neural progenitors.
    Submit: New GeneRIF Correction

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Clone Names

    • MGC66214

    Gene Ontology Provided by ZFIN

    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 GTPase activity IEA
    Inferred from Electronic Annotation
    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
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within camera-type eye development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within head development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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
    		  
    acts_upstream_of_or_within mRNA splicing, via spliceosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within neuron development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of U2-type catalytic step 2 spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of U4/U6 x U5 tri-snRNP complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of ribonucleoprotein complex IEA
    Inferred from Electronic Annotation
    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

    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_200508.2 → NP_956802.2  116 kDa U5 small nuclear ribonucleoprotein component

      See identical proteins and their annotated locations for NP_956802.2

      Status: PROVISIONAL

      Source sequence(s)
      BC154433
      UniProtKB/TrEMBL
      A8WFS1
      Related
      ENSDARP00000028033.6, ENSDART00000017172.8
      Conserved Domains (7) summary
      cd04167
      Location:131 → 329
      Snu114p; Snu114p, a spliceosome protein, is a GTPase
      cd01683
      Location:658 → 835
      EF2_IV_snRNP; EF-2_domain IV_snRNP domain is a part of 116kD U5-specific protein of the U5 small nucleoprotein (snRNP) particle, essential component of the spliceosome. The protein is structurally closely related to the eukaryotic translational elongation factor EF2. ...
      cd04098
      Location:830 → 909
      eEF2_C_snRNP; eEF2_C_snRNP: This family includes a C-terminal portion of the spliceosomal human 116kD U5 small nuclear ribonucleoprotein (snRNP) protein (U5-116 kD) and, its yeast counterpart Snu114p. This domain is homologous to the C-terminal domain of the ...
      PTZ00416
      Location:123 → 955
      PTZ00416; elongation factor 2; Provisional
      pfam16004
      Location:4 → 111
      EFTUD2; 116 kDa U5 small nuclear ribonucleoprotein component N-terminus
      cd04090
      Location:475 → 568
      EF2_II_snRNP; Domain II of the spliceosomal 116kD U5 small nuclear ribonucleoprotein (snRNP) component
      cd16264
      Location:587 → 658
      snRNP_III; Domain III of the spliceosomal 116kD U5 small nuclear ribonucleoprotein (snRNP) component

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007114.7 Reference GRCz11 Primary Assembly

      Range
      16389020..16413635 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_068216184.1 → XP_068072285.1  116 kDa U5 small nuclear ribonucleoprotein component isoform X1

    Nucleotide Protein Strain
    Heading Accession and Version

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