EFTUD2
  • 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
EFTUD2 (HGNC:30858) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
elongation factor Tu GTP binding domain containing 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
U5-116KD, Snrp116, Snu114, SNRNP116
%HI
24.19(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.15(Read more about gnomAD LOEUF score)
Cytoband
17q21.31
Genomic Coordinates
GRCh37/hg19: chr17:42927316-42976813 NCBI Ensembl UCSC
GRCh38/hg38: chr17:44849948-44899445 NCBI Ensembl UCSC
MANE Select Transcript
NM_004247.4 ENST00000426333.7 (Read more about MANE Select)
Function
Required for pre-mRNA splicing as component of the spliceosome, including pre-catalytic, catalytic and post-catalytic spliceosomal complexes (PubMed:28502770, PubMed:28781166, PubMed:28076346, PubMed:29361316, PubMed:30315277, PubMed:29360106, PubMed:29301961, PubMed:30705154, PubMed:25092792). Component of the U5 snRNP and the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome (PubMed:16723661). As a component of the minor spliceosome, involved in the splicing of U12-type introns i... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-36221
ClinGen Curation ID:
CCID:007055
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
05/23/2013

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • mandibulofacial dysostosis-microcephaly syndrome Monarch
HI Evidence:
  • PUBMED: 22305528
    Lines et al (2012) reported 12 patients with mandibulofacial dysostosis and microcephaly (MFDM) who had heterozygous, de novo mutations identified via exome sequencing. The mutations included 2 deletions, 3 nonsense, 1 splice-site, 3 frameshift, and 3 missense.
  • PUBMED: 23188108
    Gordon et al (2012) report 10 patients with features consistent with MFDM, some of whom also had esophageal atresia. Some of these patients had received an initial diagnosis of Feingold syndrome, CHARGE, VATER, or OAVS. Heterozygous de novo mutations, including 1 nonsense, 1 frameshift, and 3 splicing mutations, were found in 5 individuals. One pre-term affected baby had a splice mutation that was inherited from a mother thought to have Feingold syndrome. The remaining patients either had deletions found by microarray that contained EFTUD2 and other genes or had mutations with unknown inheritance.
HI Evidence Comments:
Heterozygous loss of function mutations have recently been shown to cause mandibulofacial dysostosis and microcephaly. Phenotypic variability has been shown that overlaps several other syndromes. In addition to the two papers above, other reports of mutations include Bernier et al (2012, PMID:22541558) and Luquetti et al (2013, PMID:23239648).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000017.10) (NC_000017.11)