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

Gene ID: 9343, updated on 23-Nov-2021

Summary

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 MIM:603892
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]
Expression
Ubiquitous expression in testis (RPKM 15.7), appendix (RPKM 15.5) and 25 other tissues See more
Orthologs
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Genomic context

See EFTUD2 in Genome Data Viewer
Location:
17q21.31
Exon count:
29
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (44849948..44899445, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42927316..42976813, 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 family with sequence similarity 187 member A Neighboring gene uncharacterized LOC105371793 Neighboring gene glial fibrillary acidic protein Neighboring gene kinesin family member 18B

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ44695, KIAA0031, DKFZp686E24196

Gene Ontology Provided by GOA

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
PubMed 
enables RNA binding HDA PubMed 
enables U5 snRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in mRNA splicing, via spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in mRNA splicing, via spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
involved_in response to cocaine IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in Cajal body IDA
Inferred from Direct Assay
more info
PubMed 
part_of U2-type catalytic step 2 spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of U2-type catalytic step 2 spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
part_of U2-type precatalytic spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
part_of U4/U6 x U5 tri-snRNP complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of U4/U6 x U5 tri-snRNP complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of catalytic step 2 spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in membrane HDA PubMed 
located_in nuclear speck IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
part_of ribonucleoprotein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

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.

Genomic

  1. NG_032674.1 RefSeqGene

    Range
    5181..54678
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001142605.2NP_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
    ENSP00000385873.2, ENST00000402521.7
    Conserved Domains (2) summary
    pfam16004
    Location:1975
    EFTUD2; 116 kDa U5 small nuclear ribonucleoprotein component N-terminus
    cl27769
    Location:87919
    GTP_EFTU; Elongation factor Tu GTP binding domain
  2. NM_001258353.2NP_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
    ENSP00000467805.1, ENST00000591382.5
    Conserved Domains (2) summary
    cl30786
    Location:122954
    FusA; Translation elongation factor EF-G, a GTPase [Translation, ribosomal structure and biogenesis]
    pfam16004
    Location:4110
    EFTUD2; 116 kDa U5 small nuclear ribonucleoprotein component N-terminus
  3. NM_001258354.2NP_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
    ENSP00000465058.1, ENST00000592576.5
    Conserved Domains (2) summary
    pfam16004
    Location:4110
    EFTUD2; 116 kDa U5 small nuclear ribonucleoprotein component N-terminus
    cl27769
    Location:122944
    GTP_EFTU; Elongation factor Tu GTP binding domain
  4. NM_004247.4NP_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
    ENSP00000392094.1, ENST00000426333.7
    Conserved Domains (2) summary
    cl30786
    Location:122954
    FusA; Translation elongation factor EF-G, a GTPase [Translation, ribosomal structure and biogenesis]
    pfam16004
    Location:4110
    EFTUD2; 116 kDa U5 small nuclear ribonucleoprotein component N-terminus

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    44849948..44899445 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_934602.3 RNA Sequence

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