Identity
HGNC
LOCATION
17q21.31
LOCUSID
ALIAS
MFDGA,MFDM,SNRNP116,Snrp116,Snu114,U5-116KD
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 9343
MIM: 603892
HGNC: 30858
Ensembl: ENSG00000108883
Variants:
dbSNP: 9343
ClinVar: 9343
TCGA: ENSG00000108883
COSMIC: EFTUD2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37396299 | 2023 | The Spliceosome Factor EFTUD2 Promotes IFN Anti-HBV Effect through mRNA Splicing. | 0 |
| 37507637 | 2023 | Identification of novel mutations in EYA3 and EFTUD2 in a family with craniofacial microsomia: evidence of digenic inheritance. | 1 |
| 37396299 | 2023 | The Spliceosome Factor EFTUD2 Promotes IFN Anti-HBV Effect through mRNA Splicing. | 0 |
| 37507637 | 2023 | Identification of novel mutations in EYA3 and EFTUD2 in a family with craniofacial microsomia: evidence of digenic inheritance. | 1 |
| 34436958 | 2022 | Association of Elongation Factor Tu GTP-binding Domain-containing 2 Gene (EFTUD2) Polymorphism with the Risk of Hepatitis B Virus Infection. | 2 |
| 35843132 | 2022 | The Pregnancy Zone Protein (PZP) is significantly downregulated in the placenta of preeclampsia and HELLP syndrome patients. | 3 |
| 34436958 | 2022 | Association of Elongation Factor Tu GTP-binding Domain-containing 2 Gene (EFTUD2) Polymorphism with the Risk of Hepatitis B Virus Infection. | 2 |
| 35843132 | 2022 | The Pregnancy Zone Protein (PZP) is significantly downregulated in the placenta of preeclampsia and HELLP syndrome patients. | 3 |
| 33247512 | 2021 | Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey. | 2 |
| 33247512 | 2021 | Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey. | 2 |
| 32333448 | 2020 | EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type. | 9 |
| 32447180 | 2020 | Spliceosome protein EFTUD2 is upregulated in the trophoblast of spontaneous miscarriage and hydatidiform mole. | 3 |
| 32541334 | 2020 | A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type. | 2 |
| 33024090 | 2020 | EFTUD2 maintains the survival of tumor cells and promotes hepatocellular carcinoma progression via the activation of STAT3. | 14 |
| 32333448 | 2020 | EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type. | 9 |
Citation
Dessen P
EFTUD2 (elongation factor Tu GTP binding domain containing 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54275/eftud2-(elongation-factor-tu-gtp-binding-domain-containing-2)
