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Egln3 Gene Detail
Summary
  • Symbol
    Egln3
  • Name
    egl-9 family hypoxia-inducible factor 3
  • Synonyms
    2610021G09Rik, Hif-p4h-3, Phd3, SM-20
  • Feature Type
    protein coding gene
  • IDs
    MGI:1932288
    NCBI Gene: 112407
  • Gene Overview
    MyGene.info: EGLN3
  • Alliance
    gene page
Location & Maps
more
  • Sequence Map
    Chr12:54178981-54203860 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      24880 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 22.90 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    EGLN3, egl-9 family hypoxia inducible factor 3
  • Vertebrate Orthologs
    10
  • Human Ortholog
    EGLN3, egl-9 family hypoxia inducible factor 3
    Orthology source: HomoloGene, HGNC
  • Synonyms
    HIFP4H3, HIFPH3, PHD3
  • Links
    NCBI Gene ID: 112399
    neXtProt AC: NX_Q9H6Z9
    UniProt: Q9H6Z9

  • Chr Location
    14q13.1; chr14:33924215-33951078 (-)  GRCh38.p7
  • HomoloGene
    Vertebrate Homology Class 32531
    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: EGLN3
  • Gene Tree
    Egln3
Human Diseases
less
  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    23 phenotypes from 3 alleles in 4 genetic backgrounds
    23 phenotypes from multigenic genotypes
    47 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 null mice display decreased apoptosis in SCG neurons, reduced adrenal medullary secretory capacity, abnormal adrenal medulla morphology, reduced circulating adrenaline and noradrenaline levels, and reduced systolic blood pressure.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    24
  • GO References
    8
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
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
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
    17
  • Tissues
    11
  • cDNA Data
    106
  • Literature Summary
    13
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000034921 VEGA Gene Model | MGI Sequence Detail 24880 C57BL/6J ±  kb
    transcript OTTMUST00000088785 VEGA | MGI Sequence Detail 2662 Not Applicable  
    polypeptide OTTMUSP00000048435 VEGA | MGI Sequence Detail 239 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      128 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • EC
      1.14.11.29
    • InterPro Domains
      IPR005123 Oxoglutarate/iron-dependent dioxygenase
      IPR006620 Prolyl 4-hydroxylase, alpha subunit
    Molecular
    Reagents
    less
    • All nucleic 106
      cDNA 106

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1919408, MGI:2144852, MGI:2144873
    References
    more
    • Summaries
      All 97
      Developmental Gene Expression 13
      Diseases 1
      Gene Ontology 8
      Phenotypes 47
    • Earliest
      J:60099 Moschella MC, et al., SM-20 is a novel growth factor-responsive gene regulated during skeletal muscle development and differentiation. Gene Expr. 1999;8(1):59-66
    • Latest
      J:254708 Yoshinaga M, et al., Regnase-1 Maintains Iron Homeostasis via the Degradation of Transferrin Receptor 1 and Prolyl-Hydroxylase-Domain-Containing Protein 3 mRNAs. Cell Rep. 2017 May 23;19(8):1614-1630
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    05/15/2018
    MGI 6.12     		The Jackson Laboratory