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

Summary

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, Nov 2024]
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

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_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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)

Endonuclease-mediated (3)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH125240 (e-PCR)
- UniSTS:162062

Ier4 (e-PCR), detects polymorphism
- UniSTS:143451

Ier4 (e-PCR), detects polymorphism
- UniSTS:143452

RH93347 (e-PCR)
- UniSTS:84676

RH127214 (e-PCR)
- UniSTS:208091

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 2-oxoglutarate-dependent dioxygenase activity	ISO Inferred from Sequence Orthology more info
enables 2-oxoglutarate-dependent dioxygenase activity	ISS Inferred from Sequence or Structural Similarity more info
enables L-ascorbic acid binding	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 ferrous iron binding	ISS Inferred from Sequence or Structural Similarity more info
enables hypoxia-inducible factor-proline dioxygenase activity	IEA Inferred from Electronic Annotation more info
enables oxygen sensor activity	ISO Inferred from Sequence Orthology more info
enables oxygen sensor activity	ISS Inferred from Sequence or Structural Similarity 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
enables peptidyl-proline 4-dioxygenase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in cell redox homeostasis	ISO Inferred from Sequence Orthology more info
involved_in cell redox homeostasis	ISS Inferred from Sequence or Structural Similarity 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	ISO Inferred from Sequence Orthology more info
involved_in peptidyl-proline hydroxylation to 4-hydroxy-L-proline	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of neuron apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of neuron apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in regulation of neuron apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to hypoxia	ISO Inferred from Sequence Orthology more info
involved_in response to hypoxia	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation 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
located_in nucleus	ISS Inferred from Sequence or Structural Similarity 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

EC 1.14.11.29

NP_444438.2

EC 1.14.11.29

XP_030097849.1

EC 1.14.11.29

XP_030097850.1

EC 1.14.11.29

XP_030097851.1

EC 1.14.11.29

XP_036008464.1

EC 1.14.11.29

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)

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
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

NC_000073.7 Reference GRCm39 C57BL/6J

Range

26858083..26866227 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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