EFTUD2 (elongation factor Tu GTP binding domain containing 2)

2014-08-01  

Identity

HGNC
EFTUD2
LOCATION
17q21.31
LOCUSID
9343
ALIAS
MFDGA,MFDM,SNRNP116,Snrp116,Snu114,U5-116KD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9343
MIM: 603892
HGNC: 30858
Ensembl: ENSG00000108883

Variants:

dbSNP: 9343
ClinVar: 9343
TCGA: ENSG00000108883
COSMIC: EFTUD2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000108883ENST00000402521Q15029
ENSG00000108883ENST00000426333Q15029
ENSG00000108883ENST00000588374K7EQ26
ENSG00000108883ENST00000589769K7EJ74
ENSG00000108883ENST00000590124K7EP67
ENSG00000108883ENST00000591382Q15029
ENSG00000108883ENST00000591856K7ERJ5
ENSG00000108883ENST00000592576Q15029
ENSG00000108883ENST00000592701K7EIV5
ENSG00000108883ENST00000593072K7EIT3

Expression (GTEx)

0
10
20
30
40
50
60
70
80
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Spliceosome, 35S U5-snRNPKEGGhsa_M00355
Spliceosome, U4/U6.U5 tri-snRNPKEGGhsa_M00354
Spliceosome, U4/U6.U5 tri-snRNPKEGGM00354
Spliceosome, 35S U5-snRNPKEGGM00355
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163
mRNA Splicing - Minor PathwayREACTOMER-HSA-72165

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
373962992023The Spliceosome Factor EFTUD2 Promotes IFN Anti-HBV Effect through mRNA Splicing.0
375076372023Identification of novel mutations in EYA3 and EFTUD2 in a family with craniofacial microsomia: evidence of digenic inheritance.1
373962992023The Spliceosome Factor EFTUD2 Promotes IFN Anti-HBV Effect through mRNA Splicing.0
375076372023Identification of novel mutations in EYA3 and EFTUD2 in a family with craniofacial microsomia: evidence of digenic inheritance.1
344369582022Association of Elongation Factor Tu GTP-binding Domain-containing 2 Gene (EFTUD2) Polymorphism with the Risk of Hepatitis B Virus Infection.2
358431322022The Pregnancy Zone Protein (PZP) is significantly downregulated in the placenta of preeclampsia and HELLP syndrome patients.3
344369582022Association of Elongation Factor Tu GTP-binding Domain-containing 2 Gene (EFTUD2) Polymorphism with the Risk of Hepatitis B Virus Infection.2
358431322022The Pregnancy Zone Protein (PZP) is significantly downregulated in the placenta of preeclampsia and HELLP syndrome patients.3
332475122021Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey.2
332475122021Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey.2
323334482020EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type.9
324471802020Spliceosome protein EFTUD2 is upregulated in the trophoblast of spontaneous miscarriage and hydatidiform mole.3
325413342020A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type.2
330240902020EFTUD2 maintains the survival of tumor cells and promotes hepatocellular carcinoma progression via the activation of STAT3.14
323334482020EFTUD2 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/gene-explorer/js/js/lib/popper.js