elongation factor Tu GTP binding domain containing 2

Summary
Gene Symbol
  • EFTUD2
Organism
Homo sapiens (human)
NCBI Gene
9343
PubChem
9343
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Disease variant
  • GTP-binding
  • Intellectual disability
  • Isopeptide bond
  • Nucleus
  • Phosphoprotein
  • Reference proteome
  • Ribonucleoprotein
  • Spliceosome
  • Ubl conjugation
Proteins
Displaying all 2 entries
UniProt Protein Name
B3KX19
  • U5 snRNP-specific protein, 116 kDa
Q15029
  • Elongation factor Tu GTP-binding domain-containing protein 2
  • SNU114 homolog
  • U5 snRNP-specific protein, 116 kDa
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
GO Hierarchy
Disease
Disease Ontology
Displaying all 6 entries
DO ID Disease Name Source
DOID:0080196 mandibulofacial dysostosis, Guion-Almeida type
DOID:10485 esophageal atresia
DOID:10907 microcephaly
DOID:2043 hepatitis B
DOID:2908 Treacher Collins syndrome
DOID:684 hepatocellular carcinoma

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: February 17, 2025