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Egln1 Gene Detail
Summary
  • Symbol
    Egln1
  • Name
    egl-9 family hypoxia-inducible factor 1
  • Synonyms
    Hif-p4h-2, ORF13, Phd2, SM-20
  • Feature Type
    protein coding gene
  • IDs
    MGI:1932286
    NCBI Gene: 112405
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:125635326-125676063 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 72.86 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1321 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1932286
 protein coding gene Chr8:125635325-125676063 (-)
129S1/SvImJ MGP_129S1SvImJ_G0034283
 protein coding gene Chr8:128625330-128670044 (-)
A/J MGP_AJ_G0034263
 protein coding gene Chr8:123287351-123328865 (-)
AKR/J MGP_AKRJ_G0034190
 protein coding gene Chr8:126847675-126893120 (-)
BALB/cJ MGP_BALBcJ_G0034256
 protein coding gene Chr8:123468459-123508835 (-)
C3H/HeJ MGP_C3HHeJ_G0033967
 protein coding gene Chr8:127495649-127539097 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034776
 protein coding gene Chr8:132912451-132958653 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031717
 protein coding gene Chr8:116045478-116085521 (-)
CAST/EiJ MGP_CASTEiJ_G0033294
 protein coding gene Chr8:127619309-127661402 (-)
CBA/J MGP_CBAJ_G0033940
 protein coding gene Chr8:137793252-137835386 (-)
DBA/2J MGP_DBA2J_G0034096
 protein coding gene Chr8:122449396-122489713 (-)
FVB/NJ MGP_FVBNJ_G0034040
 protein coding gene Chr8:121626592-121667576 (-)
LP/J MGP_LPJ_G0034185
 protein coding gene Chr8:128785878-128827233 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0034087
 protein coding gene Chr8:139863721-139906574 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034795
 protein coding gene Chr8:127089678-127137418 (-)
PWK/PhJ MGP_PWKPhJ_G0032996
 protein coding gene Chr8:122204552-122247671 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032835
 protein coding gene Chr8:125715291-125760799 (-)
WSB/EiJ MGP_WSBEiJ_G0033411
 protein coding gene Chr8:127804457-127847639 (-)



Homology
more
  • Human Ortholog
    EGLN1, egl-9 family hypoxia inducible factor 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EGLN1, egl-9 family hypoxia inducible factor 1
  • Synonyms
    C1orf12, ECYT3, HALAH, HIF-PH2, HIFPH2, HPH-2, HPH2, PHD2, SM20, ZMYND6
  • Links
    NCBI Gene ID: 54583
    neXtProt AC: NX_Q9GZT9
    UniProt: Q9GZT9

  • Chr Location
    1q42.2; chr1:231363751-231422287 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with human EGLN1 associations

Human Disease Mouse Models
      
IDs
IDs
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
    85 phenotypes from 11 alleles in 16 genetic backgrounds
    23 phenotypes from multigenic genotypes
    121 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.
Mice homozygous for a null allele display embryonic lethality during organogenesis with abnormal placental and cardiac morphology. Ubiquitous induced conditional null mice display increased angiogenesis, angiectasia, and increased hematopoietic activity.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    50
  • GO References
    14
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
    775
  • Tissues
    54
  • cDNA Data
    157
  • Literature Summary
    16
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031987 Ensembl Gene Model | MGI Sequence Detail 40738 C57BL/6J ±  kb
    transcript ENSMUST00000034469 Ensembl | MGI Sequence Detail 3594 Not Applicable  
    polypeptide ENSMUSP00000034469 Ensembl | MGI Sequence Detail 400 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000006934 egl nine homolog 1
      (term hierarchy)
    • EC
      1.14.11.29
    • InterPro Domains
      IPR051559 Hypoxia-inducible factor prolyl hydroxylases
      IPR005123 Oxoglutarate/iron-dependent dioxygenase
      IPR006620 Prolyl 4-hydroxylase, alpha subunit
      IPR044862 Prolyl 4-hydroxylase alpha subunit, Fe(2+) 2OG dioxygenase domain
      IPR002893 Zinc finger, MYND-type
    • GlyGen
      Q91YE3 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 159
      cDNA 157
      Primer pair 1
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1929952, MGI:2142578
    References
    more
    • Summaries
      All 183
      Developmental Gene Expression 16
      Diseases 1
      Gene Ontology 14
      Phenotypes 121
    • 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:354249 Prange-Barczynska M, et al., Hif-2alpha programs oxygen chemosensitivity in chromaffin cells. J Clin Invest. 2024 Aug 6;134(18)
    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