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EGLN2 egl-9 family hypoxia inducible factor 2 [ Homo sapiens (human) ]

Gene ID: 112398, updated on 23-Mar-2024

Summary

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Official Symbol
EGLN2provided by HGNC
Official Full Name
egl-9 family hypoxia inducible factor 2provided by HGNC
Primary source
HGNC:HGNC:14660
See related
Ensembl:ENSG00000269858 MIM:606424; AllianceGenome:HGNC:14660
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EIT6; PHD1; EIT-6; HPH-1; HPH-3; HIFPH1; HIF-PH1
Summary
The hypoxia inducible factor (HIF) is a transcriptional complex that is involved in oxygen homeostasis. At normal oxygen levels, the alpha subunit of HIF is targeted for degration by prolyl hydroxylation. This gene encodes an enzyme responsible for this post-translational modification. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream RAB4B (RAB4B, member RAS oncogene family) gene. [provided by RefSeq, Feb 2011]
Expression
Broad expression in testis (RPKM 61.2), spleen (RPKM 33.0) and 24 other tissues See more
Orthologs
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Genomic context

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See EGLN2 in Genome Data Viewer
Location:
19q13.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (40799191..40808434)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (43619870..43629113)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (41305096..41314339)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10647 Neighboring gene MIA-RAB4B readthrough (NMD candidate) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10648 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14667 Neighboring gene RAB4B-EGLN2 readthrough (NMD candidate) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41285223-41285754 Neighboring gene MIA SH3 domain containing Neighboring gene RAB4B, member RAS oncogene family Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10649 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10650 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41306857-41307531 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:41307710-41308450 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:41314255-41314754 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41317625-41318515 Neighboring gene cytochrome P450 family 2 subfamily T member 1, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14669 Neighboring gene cytochrome P450 family 2 subfamily F member 2, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:41332287-41332788

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Association of EGLN2 rs10680577 Polymorphism with the Risk and Clinicopathological Features of Patients with Prostate Cancer. Rahimi N, et al. Asian Pac J Cancer Prev, 2020 May 1. PMID 32458625, Free PMC Article
  2. Association between an indel polymorphism within the distal promoter of EGLN2 and cancer risk: An updated meta-analysis. Zhang S, et al. Mol Genet Genomic Med, 2019 Oct. PMID 31414584, Free PMC Article
  3. Detection of a 4-bp Insertion/deletion Polymorphism within the Promoter of EGLN2 Using Mismatch PCR-RFLP and Its Association with Susceptibility to Breast Cancer. Hashemi M, et al. Asian Pac J Cancer Prev, 2018 Apr 25. PMID 29693343, Free PMC Article
  4. Strong Prolyl Hydroxylase Domain 1 Expression Predicts Poor Outcome in Radiotherapy-treated Patients with Classical Hodgkin's Lymphoma. Bur H, et al. Anticancer Res, 2018 Jan. PMID 29277791
  5. An insertion/deletion polymorphism within the promoter of EGLN2 is associated with susceptibility to colorectal cancer. Li C, et al. Int J Biol Markers, 2017 Jul 24. PMID 28218358

See all (110) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. VHL suppresses autophagy and tumor growth through PHD1-dependent Beclin1 hydroxylation.
    Title: VHL suppresses autophagy and tumor growth through PHD1-dependent Beclin1 hydroxylation.
  2. 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.
  3. Association of EGLN2 rs10680577 Polymorphism with the Risk and Clinicopathological Features of Patients with Prostate Cancer.
    Title: Association of EGLN2 rs10680577 Polymorphism with the Risk and Clinicopathological Features of Patients with Prostate Cancer.
  4. Meta-analysis showed that EGLN2 rs10680577 polymorphism was significantly associated with cancer risk.
    Title: Association between an indel polymorphism within the distal promoter of EGLN2 and cancer risk: An updated meta-analysis.
  5. Study consistently found that hypermethylation at cg25923056-EGLN2 downregulated the corresponding gene EGLN2 expression in lung adenocarcinomas (LUAD) tumor tissues. Meanwhile, EGLN2 expression was negatively correlated with HIF1A expression in tumor tissues and significantly interacted with HIF1A expression on overall survival.
    Title: EGLN2 DNA methylation and expression interact with HIF1A to affect survival of early-stage NSCLC.
  6. Adenylosuccinate lyase (ADSL) is an EglN2 hydroxylase substrate in triple negative breast cancer.
    Title: Prolyl hydroxylase substrate adenylosuccinate lyase is an oncogenic driver in triple negative breast cancer.
  7. The authors did not detect prolyl-hydroxylase activity on any reported non-HIF protein or peptide, using conditions supporting robust HIF-alpha hydroxylation.
    Title: Lack of activity of recombinant HIF prolyl hydroxylases (PHDs) on reported non-HIF substrates.
  8. TCF7L2 positively regulated aerobic glycolysis by suppressing Egl-9 family hypoxia inducible factor 2 (EGLN2), leading to upregulation of hypoxia inducible factor 1 alpha subunit (HIF-1alpha).
    Title: TCF7L2 positively regulates aerobic glycolysis via the EGLN2/HIF-1α axis and indicates prognosis in pancreatic cancer.
  9. High PHD1 expression is associated with liver fibrosis.
    Title: Loss of Prolyl-Hydroxylase 1 Protects against Biliary Fibrosis via Attenuated Activation of Hepatic Stellate Cells.
  10. 4-bp Insertion/deletion Polymorphism within the Promoter of EGLN2 is associated with breast cancer.
    Title: Detection of a 4-bp Insertion/deletion Polymorphism within the Promoter of EGLN2 Using Mismatch PCR-RFLP and Its Association with Susceptibility to Breast Cancer.
Submit: New GeneRIF Correction See all GeneRIFs (59)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.
EBI GWAS Catalog
Genome-wide meta-analyses identify multiple loci associated with smoking behavior.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

Readthrough RAB4B-EGLN2

Readthrough gene: RAB4B-EGLN2, Included gene: RAB4B

Homology

Clone Names

  • FLJ95603, DKFZp434E026

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 2-oxoglutarate-dependent dioxygenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
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 IDA
Inferred from Direct Assay
more info
 PubMed 
enables ferrous iron binding NAS
Non-traceable Author Statement
more info
 PubMed 
enables hypoxia-inducible factor-proline dioxygenase activity IEA
Inferred from Electronic Annotation
more info
  
enables oxygen sensor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables peptidyl-proline 4-dioxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables peptidyl-proline 4-dioxygenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell redox homeostasis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular response to hypoxia IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in intracellular estrogen receptor signaling pathway NAS
Non-traceable Author Statement
more info
 PubMed 
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 IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of protein catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of cell growth NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of neuron apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in response to hypoxia IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
prolyl hydroxylase EGLN2
Names
HIF-prolyl hydroxylase 1
egl nine homolog 2
estrogen-induced tag 6
hypoxia-inducible factor prolyl hydroxylase 1
prolyl hydroxylase domain-containing protein 1
NP_444274.1
NP_542770.2

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_053046.4 → NP_444274.1  prolyl hydroxylase EGLN2

    See identical proteins and their annotated locations for NP_444274.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 3. Both variants 1 and 3 utilize alternative start codons that result in expression of two isoforms known as PHD1p43 and PHD1p40.
    Source sequence(s)
    AA994838, BC036051, DB049419
    Consensus CDS
    CCDS12567.1
    UniProtKB/Swiss-Prot
    A8K5S0, Q8WWY4, Q96KS0, Q9BV14
    Related
    ENSP00000385253.1, ENST00000406058.6
    Conserved Domains (1) summary
    smart00702
    Location:199 → 375
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

  2. NM_080732.4 → NP_542770.2  prolyl hydroxylase EGLN2

    See identical proteins and their annotated locations for NP_542770.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longer transcript. Both variants 1 and 3 utilize alternative start codons that result in expression of two isoforms known as PHD1p43 and PHD1p40.
    Source sequence(s)
    AA994838, BC001723, DA300182
    Consensus CDS
    CCDS12567.1
    UniProtKB/Swiss-Prot
    A8K5S0, Q8WWY4, Q96KS0, Q9BV14
    Related
    ENSP00000307080.3, ENST00000303961.9
    Conserved Domains (1) summary
    smart00702
    Location:199 → 375
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    40799191..40808434
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    43619870..43629113
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_017555.1: Suppressed sequence

    Description
    NM_017555.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96KS0.1 GenPept UniProtKB/Swiss-Prot:Q96KS0

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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