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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
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:102838472-102880984 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • 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 Chr11:102838472-102880985 (-)
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
    10
  • Human Ortholog
    EFTUD2, elongation factor Tu GTP binding domain containing 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    MFDGA, MFDM, SNRNP116, Snrp116, Snu114, U5-116KD
  • Links
    NCBI Gene ID: 9343
    neXtProt AC: NX_Q15029
    UniProt: Q15029

  • Chr Location
    17q21.31; chr17:44850287-44899625 (-)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 2 "NOT" models
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
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  • Phenotype Summary
    15 phenotypes from 3 alleles in 4 genetic backgrounds
    16 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
  • GO References
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20624 NCBI Gene Model | MGI Sequence Detail 42513 C57BL/6J ±  kb
    transcript NM_001109995 RefSeq | MGI Sequence Detail 3400 C57BL/6  
    polypeptide O08810 UniProt | EBI | MGI Sequence Detail 971 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      12 Sequences
    • Protein Ontology
      PR:000006927 116 kDa U5 small nuclear ribonucleoprotein component
    • 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 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
      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 42
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 5
      Phenotypes 16
    • 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:278323 Beauchamp MC, et al., Loss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse. PLoS One. 2019;14(7):e0219280

    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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    last database update
    09/15/2020
    MGI 6.15
    The Jackson Laboratory