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Egln2 egl-9 family hypoxia-inducible factor 2 [ Mus musculus (house mouse) ]

Gene ID: 112406, updated on 5-Mar-2024

Summary

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Official Symbol
Egln2provided by MGI
Official Full Name
egl-9 family hypoxia-inducible factor 2provided by MGI
Primary source
MGI:MGI:1932287
See related
Ensembl:ENSMUSG00000058709 AllianceGenome:MGI:1932287
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Ier4; Phd1; SM-20; Hif-p4h-1; 0610011A13Rik
Summary
Predicted to enable ferrous iron binding activity; oxygen sensor activity; and peptidyl-proline 4-dioxygenase activity. Predicted to be involved in several processes, including cell redox homeostasis; cellular response to hypoxia; and peptidyl-proline hydroxylation to 4-hydroxy-L-proline. Predicted to be located in nucleoplasm. Predicted to be active in cytoplasm and nucleus. Is expressed in brain; cerebral cortex; hippocampus; and olfactory epithelium. Human ortholog(s) of this gene implicated in renal cell carcinoma. Orthologous to human EGLN2 (egl-9 family hypoxia inducible factor 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 271.8), adrenal adult (RPKM 57.2) and 27 other tissues See more
Orthologs
human all
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Genomic context

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See Egln2 in Genome Data Viewer
Location:
7 A3; 7 15.83 cM
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (26858083..26866227, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (27158658..27166802, complement)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene cytochrome P450, family 2, subfamily f, polypeptide 2 Neighboring gene STARR-seq mESC enhancer starr_18343 Neighboring gene cytochrome P450, family 2, subfamily t, polypeptide 4 Neighboring gene STARR-positive B cell enhancer mm9_chr7:27952094-27952395 Neighboring gene RAB4B, member RAS oncogene family Neighboring gene STARR-positive B cell enhancers ABC_E1725 and ABC_E288 Neighboring gene microRNA 3101 Neighboring gene MIA SH3 domain containing

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. PHD1 controls muscle mTORC1 in a hydroxylation-independent manner by stabilizing leucyl tRNA synthetase. D'Hulst G, et al. Nat Commun, 2020 Jan 10. PMID 31924757, Free PMC Article
  2. Inhibition of HIF-prolyl-4-hydroxylases prevents mitochondrial impairment and cell death in a model of neuronal oxytosis. Neitemeier S, et al. Cell Death Dis, 2016 May 5. PMID 27148687, Free PMC Article
  3. Hypoxia-inducible factor prolyl hydroxylase 1 (PHD1) deficiency promotes hepatic steatosis and liver-specific insulin resistance in mice. Thomas A, et al. Sci Rep, 2016 Apr 20. PMID 27094951, Free PMC Article
  4. The role of prolyl hydroxylase domain protein (PHD) during rosiglitazone-induced adipocyte differentiation. Kim J, et al. J Biol Chem, 2014 Jan 31. PMID 24338020, Free PMC Article
  5. Hyperplasia of pulmonary neuroepithelial bodies (NEB) in lungs of prolyl hydroxylase -1(PHD-1) deficient mice. Pan J, et al. Adv Exp Med Biol, 2012. PMID 23080156, Free PMC Article

See all (94) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Loss of prolyl hydroxylase 1 and 2 in SM22alpha-expressing cells prevents Hypoxia-Induced pulmonary hypertension.
    Title: Loss of prolyl hydroxylase 1 and 2 in SM22α-expressing cells prevents Hypoxia-Induced pulmonary hypertension.
  2. Hypoxia-inducible factor prolyl hydroxylase domain (PHD) inhibition after contusive spinal cord injury does not improve locomotor recovery.
    Title: Hypoxia-inducible factor prolyl hydroxylase domain (PHD) inhibition after contusive spinal cord injury does not improve locomotor recovery.
  3. Endothelial prolyl hydroxylase 2 is necessary for angiotensin II-mediated renal fibrosis and injury.
    Title: Endothelial prolyl hydroxylase 2 is necessary for angiotensin II-mediated renal fibrosis and injury.
  4. PHD1 controls muscle mTORC1 in a hydroxylation-independent manner by stabilizing leucyl tRNA synthetase. The ability of PHD1 to promote mTORC1 activity is independent of its hydroxylation activity but is caused by decreased protein content of the leucyl tRNA synthetase (LRS) leucine sensor.
    Title: PHD1 controls muscle mTORC1 in a hydroxylation-independent manner by stabilizing leucyl tRNA synthetase.
  5. Hypoxia-inducible factor prolyl-4-hydroxylase-1 is a convergent point in the reciprocal negative regulation of NF-kappaB and p53 signaling pathways
    Title: Hypoxia-inducible factor prolyl-4-hydroxylase-1 is a convergent point in the reciprocal negative regulation of NF-κB and p53 signaling pathways.
  6. HS-induced PPARalpha-mediated downregulation of PHD1 is a novel pathway for PHD/HIF-1alpha transcriptional regulation.
    Title: Regulation of hypoxia inducible factor/prolyl hydroxylase binding domain proteins 1 by PPARα and high salt diet.
  7. EglN2 might act as an FBW7 ubiquitin ligase substrate contributing to the progression of triple negative breast cancer.
    Title: EglN2 contributes to triple negative breast tumorigenesis by functioning as a substrate for the FBW7 tumor suppressor.
  8. Selective reduction of PHD1 protein using CRISPR/Cas9 technology reduced both lipid peroxidation and mitochondrial impairment, and attenuated glutamate toxicity in the cultured neurons.
    Title: Inhibition of HIF-prolyl-4-hydroxylases prevents mitochondrial impairment and cell death in a model of neuronal oxytosis.
  9. Phd1 deficiency in dendritic cells significantly reduced interleukin-1beta production in response to lipopolysaccharide. Taken together, our results further support the development of selective PHD1 inhibitors for ulcerative colitis, and identify haematopoietic cells as their primary target.
    Title: Haematopoietic prolyl hydroxylase-1 deficiency promotes M2 macrophage polarization and is both necessary and sufficient to protect against experimental colitis.
  10. This study provides new information relating to the possible mechanism of therapeutic action of hydroxylase inhibitors that has been reported in pre-clinical models of intestinal and hepatic disease.
    Title: Prolyl hydroxylase-1 regulates hepatocyte apoptosis in an NF-κB-dependent manner.
Submit: New GeneRIF Correction See all GeneRIFs (27)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (5)  1 citation
  • Endonuclease-mediated (3) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC101954

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 2-oxoglutarate-dependent dioxygenase activity ISO
Inferred from Sequence Orthology
more info
  
enables L-ascorbic acid binding IEA
Inferred from Electronic Annotation
more info
  
enables dioxygenase activity IEA
Inferred from Electronic Annotation
more info
  
enables ferrous iron binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ferrous iron binding ISO
Inferred from Sequence Orthology
more info
  
enables hypoxia-inducible factor-proline dioxygenase activity IEA
Inferred from Electronic Annotation
more info
  
enables iron ion binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
  
enables oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA
Inferred from Electronic Annotation
more info
  
enables oxygen sensor activity ISO
Inferred from Sequence Orthology
more info
  
enables peptidyl-proline 4-dioxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables peptidyl-proline 4-dioxygenase activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in cell redox homeostasis ISO
Inferred from Sequence Orthology
more info
  
involved_in cellular response to hypoxia IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in peptidyl-proline hydroxylation to 4-hydroxy-L-proline IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in peptidyl-proline hydroxylation to 4-hydroxy-L-proline ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of protein catabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of neuron apoptotic process ISO
Inferred from Sequence Orthology
more info
  
involved_in response to hypoxia ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
prolyl hydroxylase EGLN2
Names
HIF-PH1
HIF-prolyl hydroxylase 1
HPH-1
falkor
hypoxia-inducible factor prolyl hydroxylase 1
immediate early response 4
prolyl hydroxylase domain-containing protein 1
NP_001344696.1
NP_444438.2
XP_030097849.1
XP_030097850.1
XP_030097851.1
XP_036008464.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001357767.1 → NP_001344696.1  prolyl hydroxylase EGLN2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC157553
    Conserved Domains (1) summary
    smart00702
    Location:172 → 266
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

  2. NM_053208.4 → NP_444438.2  prolyl hydroxylase EGLN2 isoform 1

    See identical proteins and their annotated locations for NP_444438.2

    Status: VALIDATED

    Source sequence(s)
    BC086764, BE993075, CB248412
    Consensus CDS
    CCDS21011.1
    UniProtKB/Swiss-Prot
    Q8C6I4, Q8CIL9, Q8VHJ1, Q91YE2, Q99MI0
    UniProtKB/TrEMBL
    Q3TXL8, Q3U8V5, Q80X29
    Related
    ENSMUSP00000078966.5, ENSMUST00000080058.11
    Conserved Domains (1) summary
    smart00702
    Location:217 → 387
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    26858083..26866227 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030241990.1 → XP_030097850.1  prolyl hydroxylase EGLN2 isoform X2

    Conserved Domains (1) summary
    smart00702
    Location:172 → 266
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

  2. XM_030241991.1 → XP_030097851.1  prolyl hydroxylase EGLN2 isoform X2

    Conserved Domains (1) summary
    smart00702
    Location:172 → 266
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

  3. XM_030241989.1 → XP_030097849.1  prolyl hydroxylase EGLN2 isoform X1

    UniProtKB/Swiss-Prot
    Q8C6I4, Q8CIL9, Q8VHJ1, Q91YE2, Q99MI0
    UniProtKB/TrEMBL
    Q3TXL8, Q3U8V5, Q80X29
    Related
    ENSMUSP00000104019.2, ENSMUST00000108382.2
    Conserved Domains (1) summary
    smart00702
    Location:217 → 387
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

  4. XM_036152571.1 → XP_036008464.1  prolyl hydroxylase EGLN2 isoform X1

    UniProtKB/Swiss-Prot
    Q8C6I4, Q8CIL9, Q8VHJ1, Q91YE2, Q99MI0
    UniProtKB/TrEMBL
    Q3TXL8, Q3U8V5, Q80X29
    Conserved Domains (1) summary
    smart00702
    Location:217 → 387
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q91YE2.2 GenPept UniProtKB/Swiss-Prot:Q91YE2

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