Gene table of EFTUD2 : elongation factor Tu GTP binding domain containing 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with EFTUD2	OMIM link	Number of associated genes	genes
610536	MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	EFTUD2

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Spliceosome	hsa03040	5.73

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Gene Expression	R-HSA-74160	2.72
mRNA Splicing - Minor Pathway	R-HSA-72165	7.59
mRNA Splicing - Major Pathway	R-HSA-72163	6.15
Processing of Capped Intron-Containing Pre-mRNA	R-HSA-72203	6.1
mRNA Splicing	R-HSA-72172	6.15

Associated GO terms for Molecular function

GO term	GO ID	GO IC
purine ribonucleoside triphosphate binding	GO:0035639	2.22
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
pyrophosphatase activity	GO:0016462	3.04
nucleotide binding	GO:0000166	1.96
guanyl ribonucleotide binding	GO:0032561	3.73
nucleoside phosphate binding	GO:1901265	1.96
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
GTP binding	GO:0005525	3.78
hydrolase activity	GO:0016787	1.9
poly(A) RNA binding	GO:0044822	2.69
GTPase activity	GO:0003924	4.31
nucleoside-triphosphatase activity	GO:0017111	3.09
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
guanyl nucleotide binding	GO:0019001	3.73
RNA binding	GO:0003723	2.36
protein binding	GO:0005515	0.46
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19