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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
  • Gene Overview
    MyGene.info: EGLN2
  • Alliance
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:27158658-27166802 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 15.83 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    7 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 Chr7:27158658-27166802 (-)
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
    7
  • Human Ortholog
    EGLN2, egl-9 family hypoxia inducible factor 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    EIT6, EIT-6, HIFPH1, HIF-PH1, HPH-1, HPH-3, PHD1
  • Links
    NCBI Gene ID: 112398
    neXtProt AC: NX_Q96KS0
    UniProt: Q96KS0

  • Chr Location
    19q13.2; chr19:40799143-40808441 (+)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotypes from 2 alleles in 3 genetic backgrounds
    13 phenotypes from multigenic genotypes
    34 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 112406 NCBI Gene Model | MGI Sequence Detail 8145 C57BL/6J ±  kb
transcript NM_053208 RefSeq | MGI Sequence Detail 2124 C57BL/6  
polypeptide Q91YE2 UniProt | EBI | MGI Sequence Detail 419 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 110
    cDNA 108
    Primer pair 2

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-36364, MGI:107787, MGI:1915611, MGI:2142358
References
more
  • Summaries
    All 78
    Developmental Gene Expression 6
    Gene Ontology 5
    Phenotypes 34
  • 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: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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last database update
11/06/2018
MGI 6.13
The Jackson Laboratory