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Etfdh Gene Detail
Summary
  • Symbol
    Etfdh
  • Name
    electron transferring flavoprotein, dehydrogenase
  • Synonyms
    0610010I20Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:106100
    NCBI Gene: 66841
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:79511095-79536074 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 34.91 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    820 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_106100
 protein coding gene Chr3:79511095-79536807 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027314
 protein coding gene Chr3:79310786-79339322 (-)
A/J MGP_AJ_G0027276
 protein coding gene Chr3:76718901-76745202 (-)
AKR/J MGP_AKRJ_G0027244
 protein coding gene Chr3:78486967-78512540 (-)
BALB/cJ MGP_BALBcJ_G0027287
 protein coding gene Chr3:76747929-76773442 (-)
C3H/HeJ MGP_C3HHeJ_G0027031
 protein coding gene Chr3:78816260-78842566 (-)
C57BL/6NJ MGP_C57BL6NJ_G0027733
 protein coding gene Chr3:82327351-82355889 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025086
 protein coding gene Chr3:72358978-72381423 (-)
CAST/EiJ MGP_CASTEiJ_G0026478
 protein coding gene Chr3:78879781-78909263 (-)
CBA/J MGP_CBAJ_G0027006
 protein coding gene Chr3:85055656-85088047 (-)
DBA/2J MGP_DBA2J_G0027142
 protein coding gene Chr3:76273721-76299560 (-)
FVB/NJ MGP_FVBNJ_G0027110
 protein coding gene Chr3:74615494-74641035 (-)
LP/J MGP_LPJ_G0027250
 protein coding gene Chr3:80280303-80306654 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0027129
 protein coding gene Chr3:91306118-91335476 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0027791
 protein coding gene Chr3:78324469-78351001 (-)
PWK/PhJ MGP_PWKPhJ_G0026212
 protein coding gene Chr3:76032956-76058929 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026028
 protein coding gene Chr3:77470112-77498781 (-)
WSB/EiJ MGP_WSBEiJ_G0026556
 protein coding gene Chr3:78649270-78675537 (-)



Homology
more
  • Human Ortholog
    ETFDH, electron transfer flavoprotein dehydrogenase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ETFDH, electron transfer flavoprotein dehydrogenase
  • Synonyms
    ETFQO, MADD
  • Links
    NCBI Gene ID: 2110
    neXtProt AC: NX_Q16134
    UniProt: Q16134

  • Chr Location
    4q32.1; chr4:158671968-158710742 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human ETFDH associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    9 phenotypes from 2 alleles in 2 genetic backgrounds
    12 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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    30
  • GO References
    12
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
membraneless 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
    872
  • Tissues
    144
  • cDNA Data
    102
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 66841 NCBI Gene Model | MGI Sequence Detail 24980 C57BL/6J ±  kb
    transcript NM_025794 RefSeq | MGI Sequence Detail 2281 ZRU/MplStud  
    polypeptide Q921G7 UniProt | EBI | MGI Sequence Detail 616 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000007217 electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial
      (term hierarchy)
    • EC
      1.5.5.1
    • InterPro Domains
      IPR017896 4Fe-4S ferredoxin-type, iron-sulphur binding domain
      IPR040156 Electron transfer flavoprotein-ubiquinone oxidoreductase
      IPR049398 ETF-QO/FixC, ubiquinone-binding
      IPR007859 ETF-QO/FixX, C-terminal domain
      IPR036188 FAD/NAD(P)-binding domain superfamily
    • GlyGen
      Q921G7 2 sites, 1 O-linked glycan (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 106
      cDNA 105
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-33787, MGI:1914091, MGI:2139921
    References
    more
    • Summaries
      All 50
      Developmental Gene Expression 4
      Diseases 1
      Gene Ontology 12
      Phenotypes 12
    • Earliest
      J:32424 White RA, et al., Assignment of Etfdh, Etfb, and Etfa to chromosomes 3, 7, and 13: the mouse homologs of genes responsible for glutaric acidemia type II in human. Genomics. 1996 Apr 1;33(1):131-4
    • Latest
      J:345923 Herrero Martin JC, et al., An ETFDH-driven metabolon supports OXPHOS efficiency in skeletal muscle by regulating coenzyme Q homeostasis. Nat Metab. 2024 Feb;6(2):209-225
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory