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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
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:102729299-102771811 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 66.48 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    125 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1336880
 protein coding gene Chr11:102729298-102771999 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019246
 protein coding gene Chr11:105869562-105911572 (-)
A/J MGP_AJ_G0019214
 protein coding gene Chr11:101383466-101425099 (-)
AKR/J MGP_AKRJ_G0019183
 protein coding gene Chr11:104515591-104557464 (-)
BALB/cJ MGP_BALBcJ_G0019188
 protein coding gene Chr11:101859217-101901252 (-)
C3H/HeJ MGP_C3HHeJ_G0018997
 protein coding gene Chr11:104730523-104779040 (-)
C57BL/6NJ MGP_C57BL6NJ_G0019637
 protein coding gene Chr11:109146363-109189986 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017263
 protein coding gene Chr11:98807515-98848027 (-)
CAST/EiJ MGP_CASTEiJ_G0018551
 protein coding gene Chr11:105737921-105785058 (-)
CBA/J MGP_CBAJ_G0018966
 protein coding gene Chr11:113662459-113712963 (-)
DBA/2J MGP_DBA2J_G0019078
 protein coding gene Chr11:100894889-100938927 (-)
FVB/NJ MGP_FVBNJ_G0019068
 protein coding gene Chr11:100434988-100481518 (-)
LP/J MGP_LPJ_G0019147
 protein coding gene Chr11:106384345-106428540 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019099
 protein coding gene Chr11:113119102-113163588 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0019675
 protein coding gene Chr11:104895791-104939218 (-)
PWK/PhJ MGP_PWKPhJ_G0018314
 protein coding gene Chr11:101963813-102010270 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018106
 protein coding gene Chr11:104660932-104704116 (-)
WSB/EiJ MGP_WSBEiJ_G0018600
 protein coding gene Chr11:104888752-104932591 (-)



Homology
more
  • Human Ortholog
    EFTUD2, elongation factor Tu GTP binding domain containing 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EFTUD2, elongation factor Tu GTP binding domain containing 2
  • Synonyms
    MFDGA, MFDM, SNRNP116, Snrp116, Snu114, U5-116KD
  • Links
    NCBI Gene ID: 9343
    neXtProt AC: NX_Q15029
    UniProt: Q15029

  • Chr Location
    17q21.31; chr17:44849948-44899445 (-)  GRCh38
Human Diseases
more
  • Diseases
    5 with human EFTUD2 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
 View 2 "NOT" models
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    22 phenotypes from 3 alleles in 4 genetic backgrounds
    19 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.
Homozygous mice lacking exon 2 die before implantation while heterozygous mice show a transient developmental delay between E8.5-E9.5.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    23
  • GO References
    5
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    812
  • Tissues
    46
  • cDNA Data
    247
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000020929 Ensembl Gene Model | MGI Sequence Detail 42513 C57BL/6J ±  kb
    transcript ENSMUST00000021306 Ensembl | MGI Sequence Detail 3324 Not Applicable  
    polypeptide ENSMUSP00000021306 Ensembl | MGI Sequence Detail 972 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      12 Sequences
    • Protein Ontology
      PR:000006927 116 kDa U5 small nuclear ribonucleoprotein component
      (term hierarchy)
    • InterPro Domains
      IPR035655 116kDa U5 small nuclear ribonucleoprotein component, C-terminal
      IPR031950 116kDa U5 small nuclear ribonucleoprotein component, N-terminal
      IPR035647 EF-G domain III/V-like
      IPR000640 Elongation factor EFG, domain V-like
      IPR041095 Elongation Factor G, domain II
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
      IPR020568 Ribosomal protein uS5 domain 2-type superfamily
      IPR005225 Small GTP-binding protein domain
      IPR014721 Small ribosomal subunit protein uS5 domain 2-type fold, subgroup
      IPR044121 Snu114, GTP-binding domain
      IPR000795 Translational (tr)-type GTP-binding domain
      IPR005517 Translation elongation factor EFG/EF2, domain IV
      IPR004161 Translation elongation factor EFTu-like, domain 2
      IPR009000 Translation protein, beta-barrel domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 250
      cDNA 247
      Primer pair 3

      Microarray probesets 6
    References
    more
    • Summaries
      All 45
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 5
      Phenotypes 19
    • 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:327815 Beauchamp MC, et al., Craniofacial Defects in Embryos with Homozygous Deletion of Eftud2 in Their Neural Crest Cells Are Not Rescued by Trp53 Deletion. Int J Mol Sci. 2022 Aug 12;23(16)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory