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Protein Coding Gene : Eftud2 elongation factor Tu GTP binding domain containing 2
Primary Identifier  MGI:1336880 Organism  mouse, laboratory
Chromosome  11 NCBI Gene Number  20624
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Predicted to enable GTPase activity and U5 snRNA binding activity. Predicted to be involved in mRNA splicing, via spliceosome. Predicted to act upstream of or within RNA splicing and mRNA processing. Located in nucleus. Is expressed in several structures, including brain; branchial arch; embryo ectoderm; extraembryonic component; and optic cup. Human ortholog(s) of this gene implicated in esophageal atresia; hepatitis B; hepatocellular carcinoma; mandibulofacial dysostosis, Guion-Almeida type; and microcephaly. Orthologous to human EFTUD2 (elongation factor Tu GTP binding domain containing 2).
PHENOTYPE: Homozygous mice lacking exon 2 die before implantation while heterozygous mice show a transient developmental delay between E8.5-E9.5. [provided by MGI curators]
  • synonyms:
  • elongation factor Tu GTP binding domain containing 2,
  • U5-116kD,
  • Eftud2,
  • Snrp116,
  • U5 small nuclear ribonucleoprotein,
  • 116kDa
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Features --> Cross References

Genome

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1 Involved In Mutations

Trail: ProteinCodingGene

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0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

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Function

Mouse features --> Functions (GO terms)

Homology

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5 Pathways

Trail: ProteinCodingGene

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Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

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