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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
    46 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
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  • 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
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
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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
    12
Interactions
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Sequences &
Gene Models
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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
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  • 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
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  • All nucleic 106
    cDNA 106

    Microarray probesets 5
Other
Accession IDs
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MGI:1919408, MGI:2144852, MGI:2144873
References
more
  • Summaries
    All 90
    Developmental Gene Expression 12
    Diseases 1
    Gene Ontology 8
    Phenotypes 46
  • 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:243598 Hulley PA, et al., Hypoxia-inducible factor 1-alpha does not regulate osteoclastogenesis but enhances bone resorption activity via prolyl-4-hydroxylase 2. J Pathol. 2017 Jul;242(3):322-333
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
10/10/2017
MGI 6.10 		The Jackson Laboratory