About   Help   FAQ
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
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:54225767-54250646 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 22.90 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    128 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1932288
 protein coding gene Chr12:54225767-54250660 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019735
 protein coding gene Chr12:53071412-53099621 (-)
A/J MGP_AJ_G0019697
 protein coding gene Chr12:51213002-51237826 (-)
AKR/J MGP_AKRJ_G0019668
 protein coding gene Chr12:52738927-52765696 (-)
BALB/cJ MGP_BALBcJ_G0019675
 protein coding gene Chr12:51490262-51518699 (-)
C3H/HeJ MGP_C3HHeJ_G0019478
 protein coding gene Chr12:52838710-52869183 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020123
 protein coding gene Chr12:54688657-54719969 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017746
 protein coding gene Chr12:49527405-49552073 (-)
CAST/EiJ MGP_CASTEiJ_G0019031
 protein coding gene Chr12:47887408-47913815 (-)
CBA/J MGP_CBAJ_G0019450
 protein coding gene Chr12:56576222-56603698 (-)
DBA/2J MGP_DBA2J_G0019564
 protein coding gene Chr12:51067831-51093829 (-)
FVB/NJ MGP_FVBNJ_G0019553
 protein coding gene Chr12:50490394-50515272 (-)
LP/J MGP_LPJ_G0019636
 protein coding gene Chr12:53143544-53169702 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019589
 protein coding gene Chr12:58212526-58239767 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020161
 protein coding gene Chr12:52238106-52263669 (-)
PWK/PhJ MGP_PWKPhJ_G0018798
 protein coding gene Chr12:45641379-45667581 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018592
 protein coding gene Chr12:46825829-46853663 (-)
WSB/EiJ MGP_WSBEiJ_G0019082
 protein coding gene Chr12:52714027-52741833 (-)



Homology
more
  • Human Ortholog
    EGLN3, egl-9 family hypoxia inducible factor 3
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EGLN3, egl-9 family hypoxia inducible factor 3
  • Synonyms
    HIFP4H3, HIFPH3, PHD3
  • Links
    NCBI Gene ID: 112399
    neXtProt AC: NX_Q9H6Z9
    UniProt: Q9H6Z9

  • Chr Location
    14q13.1; chr14:33924227-34462774 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human EGLN3 associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    24 phenotypes from 4 alleles in 5 genetic backgrounds
    23 phenotypes from multigenic genotypes
    73 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
    28
  • GO References
    11
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
    762
  • Tissues
    41
  • cDNA Data
    107
  • Literature Summary
    23
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000035105 Ensembl Gene Model | MGI Sequence Detail 24880 C57BL/6J ±  kb
    transcript ENSMUST00000039516 Ensembl | MGI Sequence Detail 2662 Not Applicable  
    polypeptide ENSMUSP00000041874 Ensembl | MGI Sequence Detail 239 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 113
      cDNA 107
      Primer pair 5
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1919408, MGI:2144852, MGI:2144873
    References
    more
    • Summaries
      All 141
      Developmental Gene Expression 23
      Diseases 1
      Gene Ontology 11
      Phenotypes 73
    • 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:343092 Xue Y, et al., Proline hydroxylation of CREB-regulated transcriptional coactivator 2 controls hepatic glucose metabolism. Proc Natl Acad Sci U S A. 2023 Jun 6;120(23):e2219419120
    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)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory