Gene

eftud2

ID
ZDB-GENE-040426-1569
Name
elongation factor Tu GTP binding domain containing 2
Symbol
eftud2 Nomenclature History
Previous Names
  • wu:fi20f05
  • zgc:66214 (1)
Type
protein_coding_gene
Location
Chr: 3 Mapping Details/Browsers
Description
Predicted to have GTPase activity and U5 snRNA binding activity. Involved in several processes, including camera-type eye development; generation of neurons; and mRNA splicing, via spliceosome. Predicted to localize to U2-type catalytic step 2 spliceosome; U4/U6 x U5 tri-snRNP complex; and cytosol. Is expressed in head; immature eye; and nervous system. Used to study Treacher Collins syndrome and mandibulofacial dysostosis, Guion-Almeida type. Human ortholog(s) of this gene implicated in esophageal atresia and mandibulofacial dysostosis, Guion-Almeida type. Orthologous to human EFTUD2 (elongation factor Tu GTP binding domain containing 2).
Genome Resources
Note
None
Expression
All Expression Data
5 figures from 4 publications
Cross-Species Comparison
High Throughput Data
No data available
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
13 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With eftud2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
mandibulofacial dysostosis, Guion-Almeida type Alliance Mandibulofacial dysostosis, Guion-Almeida type 610536
Associated With eftud2 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000640 Elongation factor EFG, domain V-like
Domain IPR000795 Translational (tr)-type GTP-binding domain
Domain IPR004161 Translation elongation factor EFTu-like, domain 2
Domain IPR005225 Small GTP-binding protein domain
Domain IPR005517 Translation elongation factor EFG/EF2, domain IV
Domain IPR031950 116kDa U5 small nuclear ribonucleoprotein component, N-terminal
Domain IPR035655 116kDa U5 small nuclear ribonucleoprotein component, C-terminal
Domain IPR041095 Elongation Factor G, domain II
Homologous_superfamily IPR009000 Translation protein, beta-barrel domain superfamily
Homologous_superfamily IPR014721 Ribosomal protein S5 domain 2-type fold, subgroup
Homologous_superfamily IPR020568 Ribosomal protein S5 domain 2-type fold
Homologous_superfamily IPR027417 P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily IPR035647 EF-G domain III/V-like
Domain Details Per Protein
Protein Length 116kDa U5 small nuclear ribonucleoprotein component, C-terminal 116kDa U5 small nuclear ribonucleoprotein component, N-terminal EF-G domain III/V-like Elongation factor EFG, domain V-like Elongation Factor G, domain II P-loop containing nucleoside triphosphate hydrolase Ribosomal protein S5 domain 2-type fold Ribosomal protein S5 domain 2-type fold, subgroup Small GTP-binding protein domain Translational (tr)-type GTP-binding domain Translation elongation factor EFG/EF2, domain IV Translation elongation factor EFTu-like, domain 2 Translation protein, beta-barrel domain superfamily
UniProtKB:Q7SXL2 398
UniProtKB:Q803Q6 686
UniProtKB:F1Q6N0 973
UniProtKB:E7FGW2 683
UniProtKB:E9QH15 970
UniProtKB:E9QFC1 398
UniProtKB:A8WFS1 973
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-eftud2 polyclonal Rabbit
  • WB
Sigma-Aldrich
2
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Gene Tree
Ensembl
Citations