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Egln2 Gene Detail
Summary
  • Symbol
    Egln2
  • Name
    egl-9 family hypoxia-inducible factor 2
  • Synonyms
    0610011A13Rik, Hif-p4h-1, Ier4, Phd1, SM-20
  • Feature Type
    protein coding gene
  • IDs
    MGI:1932287
    NCBI Gene: 112406
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:26858083-26866227 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 15.83 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    256 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1932287
 protein coding gene Chr7:26858083-26866227 (-)
129S1/SvImJ MGP_129S1SvImJ_G0031897
 protein coding gene Chr7:25772522-25780665 (-)
A/J MGP_AJ_G0031876
 protein coding gene Chr7:25165180-25173322 (-)
AKR/J MGP_AKRJ_G0031806
 protein coding gene Chr7:25837740-25845882 (-)
BALB/cJ MGP_BALBcJ_G0031881
 protein coding gene Chr7:25395051-25403193 (-)
C3H/HeJ MGP_C3HHeJ_G0031603
 protein coding gene Chr7:26217567-26225710 (-)
C57BL/6NJ MGP_C57BL6NJ_G0032346
 protein coding gene Chr7:26630175-26638405 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029398
 protein coding gene Chr7:26409584-26417747 (-)
CAST/EiJ MGP_CASTEiJ_G0030938
 protein coding gene Chr7:19512067-19522275 (-)
CBA/J MGP_CBAJ_G0031568
 protein coding gene Chr7:27795022-27803165 (-)
DBA/2J MGP_DBA2J_G0031720
 protein coding gene Chr7:24973118-24981305 (-)
FVB/NJ MGP_FVBNJ_G0031676
 protein coding gene Chr7:25055526-25063669 (-)
LP/J MGP_LPJ_G0031800
 protein coding gene Chr7:26115148-26123291 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0031711
 protein coding gene Chr7:27409150-27417291 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0032377
 protein coding gene Chr7:25369584-25377726 (-)
PWK/PhJ MGP_PWKPhJ_G0030662
 protein coding gene Chr7:20002800-20010988 (-)
SPRET/EiJ MGP_SPRETEiJ_G0030496
 protein coding gene Chr7:16358584-16366667 (-)
WSB/EiJ MGP_WSBEiJ_G0031046
 protein coding gene Chr7:25656231-25664373 (-)



Homology
more
  • Human Ortholog
    EGLN2, egl-9 family hypoxia inducible factor 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EGLN2, egl-9 family hypoxia inducible factor 2
  • Synonyms
    EIT-6, EIT6, HIF-PH1, HIFPH1, HPH-1, HPH-3, PHD1
  • Links
    NCBI Gene ID: 112398
    neXtProt AC: NX_Q96KS0
    UniProt: Q96KS0

  • Chr Location
    19q13.2; chr19:40798996-40808434 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human EGLN2 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    7 phenotypes from 2 alleles in 3 genetic backgrounds
    13 phenotypes from multigenic genotypes
    55 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.
Homozygotes are viable with no apparent abnormalities in cardiovascular, hematopoietic, or placental morphology and development.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    32
  • GO References
    9
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
    715
  • Tissues
    7
  • cDNA Data
    108
  • Literature Summary
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 112406 NCBI Gene Model | MGI Sequence Detail 8145 C57BL/6J ±  kb
    transcript NM_053208 RefSeq | MGI Sequence Detail 2124 ZRU/MplStud  
    polypeptide Q91YE2 UniProt | EBI | MGI Sequence Detail 419 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 114
      cDNA 108
      Primer pair 3
      Other 3

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-36364, MGI:107787, MGI:1915611, MGI:2142358
    References
    more
    • Summaries
      All 110
      Developmental Gene Expression 9
      Gene Ontology 9
      Phenotypes 55
    • Earliest
      J:44483 Brady KP, et al., Genetic mapping of 262 loci derived from expressed sequences in a murine interspecific cross using single-strand conformational polymorphism analysis. Genome Res. 1997 Nov;7(11):1085-93
    • Latest
      J:357526 Germeys C, et al., Targeting EGLN2/PHD1 protects motor neurons and normalizes the astrocytic interferon response. Cell Rep. 2024 Sep 24;43(9):114719
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory