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Eftud2 Gene Detail
Summary
  • Symbol
    Eftud2
  • Name
    elongation factor Tu GTP binding domain containing 2
  • Synonyms
    116kDa, Snrp116, U5-116kD
  • Feature Type
    protein coding gene
  • IDs
    MGI:1336880
    NCBI Gene: 20624
  • Gene Overview
    MyGene.info: EFTUD2
Location & Maps
more
  • Sequence Map
    Chr11:102838473-102880985 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      42513 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 66.48 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    EFTUD2, elongation factor Tu GTP binding domain containing 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    EFTUD2, elongation factor Tu GTP binding domain containing 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    MFDGA, MFDM, SNRNP116, Snrp116, Snu114, U5-116KD
  • Links
    NCBI Gene ID: 9343
    neXtProt AC: NX_Q15029

  • Chr Location
    17q21.31; chr17:44850287-44899625 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 3133
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: EFTUD2
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human EFTUD2 associations

Human Disease Mouse Models
       Mandibulofacial Dysostosis, Guion-Almeida Type; MFDGA   OMIM: 610536
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    15 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    17
  • Gene trapped
    14
  • Targeted
    3
  • Genomic Mutations
    1 involving Eftud2
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000003085 VEGA Gene Model | MGI Sequence Detail 42513 C57BL/6J ±  kb
transcript OTTMUST00000006349 VEGA | MGI Sequence Detail 3324 Not Applicable  
polypeptide OTTMUSP00000002991 VEGA | MGI Sequence Detail 972 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    125 from dbSNP Build 142
Protein
Information
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  • UniProt
    12 Sequences
  • Protein Ontology
    PR:000006927 116 kDa U5 small nuclear ribonucleoprotein component
  • InterPro Domains
    IPR031950 116 kDa U5 small nuclear ribonucleoprotein component, N-terminal
    IPR009022 Elongation factor G, III-V domain
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
    IPR020568 Ribosomal protein S5 domain 2-type fold
    IPR014721 Ribosomal protein S5 domain 2-type fold, subgroup
    IPR005225 Small GTP-binding protein domain
    IPR000795 Transcription factor, GTP-binding domain
    IPR005517 Translation elongation factor EFG/EF2, domain IV
    IPR000640 Translation elongation factor EFG, V domain
    IPR004161 Translation elongation factor EFTu-like, domain 2
    IPR009000 Translation protein, beta-barrel domain
Molecular
Reagents
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  • All nucleic 245
    cDNA 245

    Microarray probesets 6
References
more
  • Summaries
    All 36
    Gene Ontology 5
    Phenotypes 15
  • Earliest
    J:48574 Fabrizio P, et al., An evolutionarily conserved U5 snRNP-specific protein is a GTP-binding factor closely related to the ribosomal translocase EF-2. EMBO J. 1997 Jul 1;16(13):4092-106
  • Latest
    J:208278 De Arras L, et al., Comparative Genomics RNAi Screen Identifies Eftud2 as a Novel Regulator of Innate Immunity. Genetics. 2013 Dec 20;

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory