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

Gene ID: 9343, updated on 8-May-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
107 current GRCh38.p2 (GCF_000001405.28) 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 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
 
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 (6) 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. ...
    cd04090
    Location:474567
    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: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
    pfam14492
    Location:587648
    EFG_II; Elongation Factor G, domain II
  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 (6) 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. ...
    cd04090
    Location:474567
    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: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
    pfam14492
    Location:587648
    EFG_II; Elongation Factor G, domain II

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p2 Primary Assembly

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

RNA

  1. XR_934602.1 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)