EFTUD2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | EFTUD2 |
| Official Name | elongation factor Tu GTP binding domain containing 2 [Source:HGNC Symbol;Acc:HGNC:30858] |
| Ensembl ID | ENSG00000108883 |
| Bio databases IDs | |
| Aliases | elongation factor Tu GTP binding domain containing 2, U5 snRNP specific protein, 116 kD, 116 kDa U5 small nuclear ribonucleoprotein component |
| Synonyms | elongation factor Tu GTP binding domain containing 2, MFDGA, MFDM, SNRNP116, snRNP C U5, Snrp116, Snu114, U5-116, U5-116KD, U5 small nuclear ribonucleoprotein 116 kDa, U5 snRNP116 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human EFTUD2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Elongation Factor G, domain III
- Domain III of Elongation factor G (EF-G) and related proteins
- translation elongation factor EF-G
- enzyme
- protein binding
- Elongation factor Tu domain 2
- EFG_like_IV
- Elongation_Factor_C
- Domain II of Elongation factor Tu (EF-Tu)-like proteins
- small GTP-binding protein domain
- Elongation factor G C-terminus
- elongation factor G-like protein
- translation elongation factor aEF-2
- Elongation factor Tu GTP binding domain
- P-loop containing Nucleoside Triphosphate Hydrolases
- Elongation factor G, domain IV
- 116 kDa U5 small nuclear ribonucleoprotein component N-terminus
Pathways
Biological processes and signaling networks where the EFTUD2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- colorectal cancer
- mandibulofacial dysostosis with microcephaly
- hereditary disorder
- developmental delay
- COVID-19
- chromatinopathy
- cleft palate
- neurodevelopmental disorder
- dyskinesia
role in cell
- expression in
- cell viability
- degradation in
- binding in
- ubiquitination in
- stabilization in
- survival
- 5-fluorouracil sensitivity
- prometaphase
- splicing by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- intracellular membrane-bounded organelle
- catalytic step 2 spliceosome
- cytosol
- spliceosomes
- nucleoplasm
- interchromatin granule clusters
- nuclear speckles
- Cajal bodies
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EFTUD2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to cocaine
- cellular response to xenobiotic stimulus
- nuclear mRNA splicing, via spliceosome
Cellular Component
Where in the cell the gene product is active
- nucleus
- catalytic step 2 spliceosome
- nuclear speck
- intracellular membrane-bounded organelle
- membrane
- U4/U6 x U5 tri-snRNP complex
- Cajal body
- U2-type catalytic step 2 spliceosome
- cytosol
- U2-type precatalytic spliceosome
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- GTP binding
- U5 snRNA binding
- protein binding
- RNA binding
- GTPase activity