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    EFTUD2 elongation factor Tu GTP binding domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 9343, updated on 13-Aug-2016
    Official Symbol
    EFTUD2provided by HGNC
    Official Full Name
    elongation factor Tu GTP binding domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:30858
    See related
    Ensembl:ENSG00000108883 HPRD:04869; MIM:603892; Vega:OTTHUMG00000179865
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MFDM; MFDGA; Snu114; Snrp116; SNRNP116; U5-116KD
    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]
    Orthologs
    Location:
    17q21.31
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (44850287..44899625, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42927655..42976993, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ADAM metallopeptidase domain 11 Neighboring gene gap junction protein gamma 1 Neighboring gene HIG1 hypoxia inducible domain family member 1B Neighboring gene RNA, 7SL, cytoplasmic 405, pseudogene Neighboring gene coiled-coil domain containing 103 Neighboring gene glial fibrillary acidic protein

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2013-05-23)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2013-05-23)

    ClinGen Genome Curation PagePubMed
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Processing of Capped Intron-Containing Pre-mRNA, organism-specific biosystem (from REACTOME)
      Processing of Capped Intron-Containing Pre-mRNA, organism-specific biosystemCo-transcriptional pre-mRNA splicing is not obligatory. Pre-mRNA splicing begins co-transcriptionally and often continues post-transcriptionally. Human genes contain an average of nine introns per ge...
    • Spliceosome, organism-specific biosystem (from KEGG)
      Spliceosome, organism-specific biosystemAfter transcription, eukaryotic mRNA precursors contain protein-coding exons and noncoding introns. In the following splicing, introns are excised and exons are joined by a macromolecular complex, th...
    • Spliceosome, conserved biosystem (from KEGG)
      Spliceosome, conserved biosystemAfter transcription, eukaryotic mRNA precursors contain protein-coding exons and noncoding introns. In the following splicing, introns are excised and exons are joined by a macromolecular complex, th...
    • Spliceosome, 35S U5-snRNP, organism-specific biosystem (from KEGG)
      Spliceosome, 35S U5-snRNP, organism-specific biosystemStructural complex; Genetic information processing; Spliceosome
    • Spliceosome, 35S U5-snRNP, conserved biosystem (from KEGG)
      Spliceosome, 35S U5-snRNP, conserved biosystemStructural complex; Genetic information processing; Spliceosome
    • Spliceosome, U4/U6.U5 tri-snRNP, organism-specific biosystem (from KEGG)
      Spliceosome, U4/U6.U5 tri-snRNP, organism-specific biosystemStructural complex; Genetic information processing; Spliceosome
    • Spliceosome, U4/U6.U5 tri-snRNP, conserved biosystem (from KEGG)
      Spliceosome, U4/U6.U5 tri-snRNP, conserved biosystemStructural complex; Genetic information processing; Spliceosome
    • mRNA Splicing, organism-specific biosystem (from REACTOME)
      mRNA Splicing, organism-specific biosystemThe process in which excision of introns from the primary transcript of messenger RNA (mRNA) is followed by ligation of the two exon termini exposed by removal of each intron, is called mRNA splicing...
    • mRNA Splicing - Major Pathway, organism-specific biosystem (from REACTOME)
      mRNA Splicing - Major Pathway, organism-specific biosystemThe splicing of pre-mRNA occurs within a large, very dynamic complex, designated the 'spliceosome'. The 50-60S spliceosomes are estimated to be 40-60 nm in diameter, and have molecular weights in the...
    • mRNA Splicing - Minor Pathway, organism-specific biosystem (from REACTOME)
      mRNA Splicing - Minor Pathway, organism-specific biosystemThe splicing of a subset of pre-mRNA introns occurs by a second pathway, designated the AT-AC or U12-dependent splicing pathway. AT-AC introns have highly conserved, non-canonical splice sites that ...
    • mRNA processing, organism-specific biosystem (from WikiPathways)
      mRNA processing, organism-specific biosystemThis process describes the conversion of precursor messenger RNA into mature messenger RNA (mRNA). The pre-mRNA molecule undergoes three main modifications. These modifications are 5' capping, 3' po...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ44695, KIAA0031, DKFZp686E24196

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    poly(A) RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    RNA splicing TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    mRNA processing TAS
    Traceable Author Statement
    more info
    PubMed 
    mRNA splicing, via spliceosome IC
    Inferred by Curator
    more info
    PubMed 
    mRNA splicing, via spliceosome TAS
    Traceable Author Statement
    more info
     
    response to cocaine IEA
    Inferred from Electronic Annotation
    more info
     
    NOT translation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    Cajal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    catalytic step 2 spliceosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear speck IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    spliceosomal complex TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    116 kDa U5 small nuclear ribonucleoprotein component
    Names
    SNU114 homolog
    U5 snRNP-specific protein, 116 kDa
    elongation factor Tu GTP-binding domain-containing protein 2
    hSNU114

    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.

    Genomic

    1. NG_032674.1 RefSeqGene

      Range
      5001..54339
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001142605.1NP_001136077.1  116 kDa U5 small nuclear ribonucleoprotein component isoform b

      See identical proteins and their annotated locations for NP_001136077.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and in the 5' coding region, compared to variant 1. These differences causes translation initiation at a downstream AUG and results an isoform (b) with a shorter N-terminus compared to isoform a.
      Source sequence(s)
      AC015936, AK126464, BC002360, DC353274
      Consensus CDS
      CCDS45707.1
      UniProtKB/Swiss-Prot
      Q15029
      UniProtKB/TrEMBL
      B3KX19
      Related
      ENSP00000385873, OTTHUMP00000262831, ENST00000402521, OTTHUMT00000448681
      Conserved Domains (6) summary
      cd04167
      Location:95293
      Snu114p; Snu114p, a spliceosome protein, is a GTPase
      cd01683
      Location:622799
      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. ...
      cd04090
      Location:439532
      eEF2_II_snRNP; Loc2 eEF2_C_snRNP, cd01514/C terminal domain:eEF2_C_snRNP: This family includes 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 ...
      cd04098
      Location:794873
      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:87919
      PTZ00416; elongation factor 2; Provisional
      pfam14492
      Location:552613
      EFG_II; Elongation Factor G, domain II
    2. NM_001258353.1NP_001245282.1  116 kDa U5 small nuclear ribonucleoprotein component isoform a

      See identical proteins and their annotated locations for NP_001245282.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Both variants 1 and 3 encode the same protein.
      Source sequence(s)
      AC015936, AK128148
      Consensus CDS
      CCDS11489.1
      UniProtKB/Swiss-Prot
      Q15029
      Related
      ENSP00000467805, OTTHUMP00000262829, ENST00000591382, OTTHUMT00000448677
      Conserved Domains (7) summary
      cd04167
      Location:130328
      Snu114p; Snu114p, a spliceosome protein, is a GTPase
      cd01683
      Location:657834
      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:829908
      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:122954
      PTZ00416; elongation factor 2; Provisional
      pfam16004
      Location:4110
      EFTUD2; 116 kDa U5 small nuclear ribonucleoprotein component N-terminus
      cd04090
      Location:474567
      EF2_II_snRNP; Domain II of the spliceosomal 116kD U5 small nuclear ribonucleoprotein (snRNP) component
      cd16264
      Location:586657
      snRNP_III; Domain III of the spliceosomal 116kD U5 small nuclear ribonucleoprotein (snRNP) component
    3. NM_001258354.1NP_001245283.1  116 kDa U5 small nuclear ribonucleoprotein component isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The resulting protein (isoform c) is shorter compared to isoform a.
      Source sequence(s)
      AC015936, AK297392
      Consensus CDS
      CCDS59295.1
      UniProtKB/Swiss-Prot
      Q15029
      Related
      ENSP00000465058, OTTHUMP00000262828, ENST00000592576, OTTHUMT00000448675
      Conserved Domains (6) summary
      cd04167
      Location:130318
      Snu114p; Snu114p, a spliceosome protein, is a GTPase
      cd01683
      Location:647824
      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. ...
      cd04090
      Location:464557
      eEF2_II_snRNP; Loc2 eEF2_C_snRNP, cd01514/C terminal domain:eEF2_C_snRNP: This family includes 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 ...
      cd04098
      Location:819898
      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:122944
      PTZ00416; elongation factor 2; Provisional
      pfam14492
      Location:577638
      EFG_II; Elongation Factor G, domain II
    4. NM_004247.3NP_004238.3  116 kDa U5 small nuclear ribonucleoprotein component isoform a

      See identical proteins and their annotated locations for NP_004238.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a). Both variants 1 and 3 encode the same protein.
      Source sequence(s)
      AC015936, AK126464, BC002360, DC353274
      Consensus CDS
      CCDS11489.1
      UniProtKB/Swiss-Prot
      Q15029
      UniProtKB/TrEMBL
      B3KX19
      Related
      ENSP00000392094, OTTHUMP00000262827, ENST00000426333, OTTHUMT00000448672
      Conserved Domains (7) summary
      cd04167
      Location:130328
      Snu114p; Snu114p, a spliceosome protein, is a GTPase
      cd01683
      Location:657834
      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:829908
      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:122954
      PTZ00416; elongation factor 2; Provisional
      pfam16004
      Location:4110
      EFTUD2; 116 kDa U5 small nuclear ribonucleoprotein component N-terminus
      cd04090
      Location:474567
      EF2_II_snRNP; Domain II of the spliceosomal 116kD U5 small nuclear ribonucleoprotein (snRNP) component
      cd16264
      Location:586657
      snRNP_III; Domain III of the spliceosomal 116kD U5 small nuclear ribonucleoprotein (snRNP) component

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      44850287..44899625 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_934602.2 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      43163795..43213134 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)