Aliases for EGLN3 Gene

Aliases for EGLN3 Gene

  • Egl-9 Family Hypoxia Inducible Factor 3 2 3 5
  • PHD3 2 3 4
  • Prolyl Hydroxylase Domain-Containing Protein 3 3 4
  • Hypoxia-Inducible Factor Prolyl Hydroxylase 3 3 4
  • Prolyl Hydroxylase EGLN3 3 4
  • HIF-Prolyl Hydroxylase 3 3 4
  • HIF-PH3 3 4
  • HIFPH3 2 3
  • HPH-1 3 4
  • HPH-3 3 4
  • Egl Nine Homolog 3 (C. Elegans) 2
  • HIF Prolyl Hydroxylase 3 2
  • Egl Nine Homolog 3 4
  • EC 1.14.11.29 4
  • EC 1.14.11.- 4
  • EC 1.14.11 50
  • HIFP4H3 3
  • EGLN3 5

External Ids for EGLN3 Gene

Previous GeneCards Identifiers for EGLN3 Gene

  • GC14M031770
  • GC14M028180
  • GC14M032383
  • GC14M033463
  • GC14M034393
  • GC14M014510

Summaries for EGLN3 Gene

GeneCards Summary for EGLN3 Gene

EGLN3 (Egl-9 Family Hypoxia Inducible Factor 3) is a Protein Coding gene. Diseases associated with EGLN3 include Hypoxia and Chronic Mountain Sickness. Among its related pathways are ErbB signaling pathway and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is EGLN1.

UniProtKB/Swiss-Prot Summary for EGLN3 Gene

  • Prolyl hydroxylase that mediates hydroxylation of proline residues in target proteins, such as PKM, TELO2, ATF4 and HIF1A (PubMed:19584355, PubMed:21620138, PubMed:21483450, PubMed:22797300, PubMed:20978507, PubMed:21575608). Target proteins are preferentially recognized via a LXXLAP motif. Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins (PubMed:11595184, PubMed:12181324). Hydroxylates a specific proline found in each of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A (PubMed:11595184, PubMed:12181324). Also hydroxylates HIF2A (PubMed:11595184, PubMed:12181324). Has a preference for the CODD site for both HIF1A and HIF2A (PubMed:11595184, PubMed:12181324). Hydroxylation on the NODD site by EGLN3 appears to require prior hydroxylation on the CODD site (PubMed:11595184, PubMed:12181324). Hydroxylated HIFs are then targeted for proteasomal degradation via the von Hippel-Lindau ubiquitination complex (PubMed:11595184, PubMed:12181324). Under hypoxic conditions, the hydroxylation reaction is attenuated allowing HIFs to escape degradation resulting in their translocation to the nucleus, heterodimerization with HIF1B, and increased expression of hypoxy-inducible genes (PubMed:11595184, PubMed:12181324). ELGN3 is the most important isozyme in limiting physiological activation of HIFs (particularly HIF2A) in hypoxia. Also hydroxylates PKM in hypoxia, limiting glycolysis (PubMed:21620138, PubMed:21483450). Under normoxia, hydroxylates and regulates the stability of ADRB2 (PubMed:19584355). Regulator of cardiomyocyte and neuronal apoptosis. In cardiomyocytes, inhibits the anti-apoptotic effect of BCL2 by disrupting the BAX-BCL2 complex (PubMed:20849813). In neurons, has a NGF-induced proapoptotic effect, probably through regulating CASP3 activity (PubMed:16098468). Also essential for hypoxic regulation of neutrophilic inflammation (PubMed:21317538). Plays a crucial role in DNA damage response (DDR) by hydroxylating TELO2, promoting its interaction with ATR which is required for activation of the ATR/CHK1/p53 pathway (PubMed:22797300). Also mediates hydroxylation of ATF4, leading to decreased protein stability of ATF4 (Probable).

Gene Wiki entry for EGLN3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EGLN3 Gene

Genomics for EGLN3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EGLN3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EGLN3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EGLN3

Top Transcription factor binding sites by QIAGEN in the EGLN3 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • c-Myc
  • Max
  • MyoD
  • POU6F1 (c2)
  • YY1

Genomic Locations for EGLN3 Gene

Latest Assembly
chr14:33,924,227-34,462,774
(GRCh38/hg38)
Size:
538,548 bases
Orientation:
Minus strand

Previous Assembly
chr14:34,393,433-34,420,280
(GRCh37/hg19 by Entrez Gene)
Size:
26,848 bases
Orientation:
Minus strand

chr14:34,393,437-34,931,980
(GRCh37/hg19 by Ensembl)
Size:
538,544 bases
Orientation:
Minus strand

Genomic View for EGLN3 Gene

Genes around EGLN3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EGLN3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EGLN3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EGLN3 Gene

Proteins for EGLN3 Gene

  • Protein details for EGLN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H6Z9-EGLN3_HUMAN
    Recommended name:
    Prolyl hydroxylase EGLN3
    Protein Accession:
    Q9H6Z9
    Secondary Accessions:
    • Q2TA79
    • Q3B8N4
    • Q6P1R2

    Protein attributes for EGLN3 Gene

    Size:
    239 amino acids
    Molecular mass:
    27261 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Cofactor:
    Name=L-ascorbate; Xref=ChEBI:CHEBI:38290;
    Quaternary structure:
    • Interacts with BCL2 (via its BH4 domain); the interaction disrupts the BAX-BCL4 complex inhibiting the anti-apoptotic activity of BCL2 (PubMed:20849813). Interacts with WDR83; the interaction leads to almost complete elimination of HIF-mediated reporter activity (By similarity). Interacts with ADRB2; the interaction hydroxylates ADRB2 facilitating its ubiquitination by the VHL-E3 ligase complex (PubMed:19584355). Interacts with PAX2; the interaction targets PAX2 for destruction (PubMed:21575608). Interacts with PKM; the interaction hydroxylates PKM in hypoxia (PubMed:21620138, PubMed:21483450). Interacts with LIMD1, WTIP and AJUBA (PubMed:22286099).

neXtProt entry for EGLN3 Gene

Selected DME Specific Peptides for EGLN3 Gene

Q9H6Z9:
  • ALEYIVPC
  • RGDQITWI
  • GYVRHVDNP
  • TVWYFDA
  • FDRLLFFWSDRRNPHEVQP
  • GDGRCITCIYYLN

Post-translational modifications for EGLN3 Gene

  • Ubiquitinated by SIAH1 and/or SIAH2 in response to the unfolded protein response (UPR), leading to its degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EGLN3 Gene

Domains & Families for EGLN3 Gene

Gene Families for EGLN3 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for EGLN3 Gene

Suggested Antigen Peptide Sequences for EGLN3 Gene

GenScript: Design optimal peptide antigens:
  • Egl nine-like protein 3 isoform (A6XP73_HUMAN)
  • Prolyl hydroxylase domain-containing protein 3 (EGLN3_HUMAN)
  • EGLN3 protein (Q3T1B0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H6Z9

UniProtKB/Swiss-Prot:

EGLN3_HUMAN :
  • The Beta(2)beta(3) 'finger-like' loop domain is important for substrate (HIFs' CODD/NODD) selectivity.
Domain:
  • The Beta(2)beta(3) 'finger-like' loop domain is important for substrate (HIFs' CODD/NODD) selectivity.
genes like me logo Genes that share domains with EGLN3: view

Function for EGLN3 Gene

Molecular function for EGLN3 Gene

UniProtKB/Swiss-Prot Function:
Prolyl hydroxylase that mediates hydroxylation of proline residues in target proteins, such as PKM, TELO2, ATF4 and HIF1A (PubMed:19584355, PubMed:21620138, PubMed:21483450, PubMed:22797300, PubMed:20978507, PubMed:21575608). Target proteins are preferentially recognized via a LXXLAP motif. Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins (PubMed:11595184, PubMed:12181324). Hydroxylates a specific proline found in each of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A (PubMed:11595184, PubMed:12181324). Also hydroxylates HIF2A (PubMed:11595184, PubMed:12181324). Has a preference for the CODD site for both HIF1A and HIF2A (PubMed:11595184, PubMed:12181324). Hydroxylation on the NODD site by EGLN3 appears to require prior hydroxylation on the CODD site (PubMed:11595184, PubMed:12181324). Hydroxylated HIFs are then targeted for proteasomal degradation via the von Hippel-Lindau ubiquitination complex (PubMed:11595184, PubMed:12181324). Under hypoxic conditions, the hydroxylation reaction is attenuated allowing HIFs to escape degradation resulting in their translocation to the nucleus, heterodimerization with HIF1B, and increased expression of hypoxy-inducible genes (PubMed:11595184, PubMed:12181324). ELGN3 is the most important isozyme in limiting physiological activation of HIFs (particularly HIF2A) in hypoxia. Also hydroxylates PKM in hypoxia, limiting glycolysis (PubMed:21620138, PubMed:21483450). Under normoxia, hydroxylates and regulates the stability of ADRB2 (PubMed:19584355). Regulator of cardiomyocyte and neuronal apoptosis. In cardiomyocytes, inhibits the anti-apoptotic effect of BCL2 by disrupting the BAX-BCL2 complex (PubMed:20849813). In neurons, has a NGF-induced proapoptotic effect, probably through regulating CASP3 activity (PubMed:16098468). Also essential for hypoxic regulation of neutrophilic inflammation (PubMed:21317538). Plays a crucial role in DNA damage response (DDR) by hydroxylating TELO2, promoting its interaction with ATR which is required for activation of the ATR/CHK1/p53 pathway (PubMed:22797300). Also mediates hydroxylation of ATF4, leading to decreased protein stability of ATF4 (Probable).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + L-prolyl-[protein] + O2 = CO2 + succinate + trans-4-hydroxy-L-prolyl-[protein]; Xref=Rhea:RHEA:63484, Rhea:RHEA-COMP:12408, Rhea:RHEA-COMP:16354, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:30031, ChEBI:CHEBI:50342, ChEBI:CHEBI:61965; Evidence={ECO:0000269|PubMed:11598268, ECO:0000269|PubMed:21483450, ECO:0000269|PubMed:21620138, ECO:0000269|PubMed:22797300};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + L-prolyl-[hypoxia-inducible factor alpha subunit] + O2 = CO2 + succinate + trans-4-hydroxy-L-prolyl-[hypoxia-inducible factor alpha subunit]; Xref=Rhea:RHEA:48400, Rhea:RHEA-COMP:12093, Rhea:RHEA-COMP:12094, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:30031, ChEBI:CHEBI:50342, ChEBI:CHEBI:61965; EC=1.14.11.29; Evidence={ECO:0000269|PubMed:11598268};.
UniProtKB/Swiss-Prot Induction:
Induced by hypoxia in a number of cells including neutrophils and certain cancer cell lines. Up-regulated 10-fold in pancreatic cancers.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated in cardiovascular cells and Hela cells following exposure to hypoxia. Inhibited by polynitrogen compounds probably by chelation to Fe(2+) ions.

Enzyme Numbers (IUBMB) for EGLN3 Gene

Phenotypes From GWAS Catalog for EGLN3 Gene

Gene Ontology (GO) - Molecular Function for EGLN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding IPI 15721254
GO:0008198 ferrous iron binding IBA 21873635
GO:0016491 oxidoreductase activity IEA --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA --
genes like me logo Genes that share ontologies with EGLN3: view
genes like me logo Genes that share phenotypes with EGLN3: view

Animal Models for EGLN3 Gene

MGI Knock Outs for EGLN3:

Animal Models for research

  • Taconic Biosciences Mouse Models for EGLN3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EGLN3

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EGLN3 Gene

Localization for EGLN3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EGLN3 Gene

Nucleus. Cytoplasm. Note=Colocalizes with WDR83 in the cytoplasm. {ECO:0000250 UniProtKB:Q62630}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EGLN3 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for EGLN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 12615973
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IBA,IDA 12615973
GO:0005829 cytosol IDA,TAS --
genes like me logo Genes that share ontologies with EGLN3: view

Pathways & Interactions for EGLN3 Gene

genes like me logo Genes that share pathways with EGLN3: view

SIGNOR curated interactions for EGLN3 Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for EGLN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEP 20978507
GO:0006915 apoptotic process IEP 20978507
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IEP 20978507
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0018126 protein hydroxylation IDA 19584355
genes like me logo Genes that share ontologies with EGLN3: view

Drugs & Compounds for EGLN3 Gene

(10) Drugs for EGLN3 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin C Approved Nutra Target, chaperone 836,836
Oxygen Approved, Vet_approved Pharma 0
Succinic acid Approved Nutra 0
hydroxyproline Experimental Pharma 0
Oxogluric acid Experimental, Investigational Nutra 0

(2) Additional Compounds for EGLN3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for EGLN3 Gene

Compound Action Cas Number
FG2216 HIF-prolyl hydroxylase inhibitor 223387-75-5
genes like me logo Genes that share compounds with EGLN3: view

Drug products for research

Transcripts for EGLN3 Gene

mRNA/cDNA for EGLN3 Gene

2 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EGLN3

Alternative Splicing Database (ASD) splice patterns (SP) for EGLN3 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c
SP1: -
SP2: - -
SP3:

Relevant External Links for EGLN3 Gene

GeneLoc Exon Structure for
EGLN3

Expression for EGLN3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EGLN3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EGLN3 Gene

This gene is overexpressed in Heart - Left Ventricle (x6.6), Skin - Not Sun Exposed (Suprapubic) (x5.3), Skin - Sun Exposed (Lower leg) (x4.8), and Heart - Atrial Appendage (x4.4).

Protein differential expression in normal tissues from HIPED for EGLN3 Gene

This gene is overexpressed in Urinary Bladder (22.5), Heart (13.6), Gallbladder (10.9), Ovary (9.0), and Peripheral blood mononuclear cells (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EGLN3 Gene



Protein tissue co-expression partners for EGLN3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EGLN3

SOURCE GeneReport for Unigene cluster for EGLN3 Gene:

Hs.135507

mRNA Expression by UniProt/SwissProt for EGLN3 Gene:

Q9H6Z9-EGLN3_HUMAN
Tissue specificity: Widely expressed at low levels. Expressed at higher levels in adult heart (cardiac myocytes, aortic endothelial cells and coronary artery smooth muscle), lung and placenta, and in fetal spleen, heart and skeletal muscle. Also expressed in pancreas. Localized to pancreatic acini and islet cells.

Evidence on tissue expression from TISSUES for EGLN3 Gene

  • Intestine(4.4)
  • Lung(4.4)
  • Skin(3.6)
  • Heart(3.2)
  • Nervous system(3.1)
  • Muscle(3)
  • Kidney(2.4)
  • Stomach(2)
genes like me logo Genes that share expression patterns with EGLN3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for EGLN3 Gene

Orthologs for EGLN3 Gene

This gene was present in the common ancestor of animals.

Orthologs for EGLN3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia EGLN3 29 30
  • 99.86 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia EGLN3 29 30
  • 94.14 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia EGLN3 30
  • 93 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia EGLN3 29 30
  • 92.61 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Egln3 29 16 30
  • 91.91 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Egln3 29
  • 91.49 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia EGLN3 30
  • 90 (a)
OneToOne
Chicken
(Gallus gallus)
Aves EGLN3 29 30
  • 82.71 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia EGLN3 30
  • 85 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia egln3 29
  • 69.32 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16140 29
Zebrafish
(Danio rerio)
Actinopterygii egln3 29 30
  • 66.22 (n)
OneToOne
wufj78a08 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8898 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003523 29
  • 59.97 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Hph 30
  • 22 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea egl-9 30
  • 13 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 30 (a)
OneToMany
Species where no ortholog for EGLN3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for EGLN3 Gene

ENSEMBL:
Gene Tree for EGLN3 (if available)
TreeFam:
Gene Tree for EGLN3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EGLN3: view image
Alliance of Genome Resources:
Additional Orthologs for EGLN3

Paralogs for EGLN3 Gene

Paralogs for EGLN3 Gene

(2) SIMAP similar genes for EGLN3 Gene using alignment to 6 proteins:

  • EGLN3_HUMAN
  • A6XP73_HUMAN
  • F8VR39_HUMAN
  • F8W1G2_HUMAN
  • G3V3M1_HUMAN
  • Q3T1B0_HUMAN

Pseudogenes.org Pseudogenes for EGLN3 Gene

genes like me logo Genes that share paralogs with EGLN3: view

Variants for EGLN3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EGLN3 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs34347250 Benign: not provided 33,950,541(-) C/T
NM_022073.4(EGLN3):c.212G>A (p.Arg71Gln)
MISSENSE_VARIANT,INTRON
rs45570637 Benign: not provided 33,929,099(-) T/C
NM_022073.4(EGLN3):c.591A>G (p.Glu197=)
SYNONYMOUS
rs17101995 -- p.Ser234Thr
rs17102002 -- p.Val136Leu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for EGLN3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for EGLN3 Gene

Variant ID Type Subtype PubMed ID
esv34070 CNV loss 18971310
nsv1036996 CNV gain 25217958
nsv1070213 CNV deletion 25765185
nsv1130912 CNV deletion 24896259
nsv1154054 CNV deletion 26484159
nsv832768 CNV gain 17160897
nsv832769 CNV loss 17160897

Variation tolerance for EGLN3 Gene

Residual Variation Intolerance Score: 24% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.88; 18.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EGLN3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EGLN3
Leiden Open Variation Database (LOVD)
EGLN3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EGLN3 Gene

Disorders for EGLN3 Gene

MalaCards: The human disease database

(10) MalaCards diseases for EGLN3 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
hypoxia
chronic mountain sickness
  • chronic mountain sickness, susceptibility to
polycythemia
  • erythrocythemia
erythrocytosis, familial, 2
  • ecyt2
familial isolated hypoparathyroidism
  • fih
- elite association - COSMIC cancer census association via MalaCards
Search EGLN3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EGLN3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with EGLN3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EGLN3 Gene

Publications for EGLN3 Gene

  1. Oxygen-regulated beta(2)-adrenergic receptor hydroxylation by EGLN3 and ubiquitylation by pVHL. (PMID: 19584355) Xie L … Stamler JS (Science signaling 2009) 3 4 22
  2. Oxygen-dependent ATF-4 stability is mediated by the PHD3 oxygen sensor. (PMID: 17684156) Köditz J … Katschinski DM (Blood 2007) 3 4 22
  3. Differential function of the prolyl hydroxylases PHD1, PHD2, and PHD3 in the regulation of hypoxia-inducible factor. (PMID: 15247232) Appelhoff RJ … Gleadle JM (The Journal of biological chemistry 2004) 3 4 22
  4. Intracellular localisation of human HIF-1 alpha hydroxylases: implications for oxygen sensing. (PMID: 12615973) Metzen E … Fandrey J (Journal of cell science 2003) 3 4 22
  5. Differential regulation of HIF-1 alpha prolyl-4-hydroxylase genes by hypoxia in human cardiovascular cells. (PMID: 12670503) Cioffi CL … Bowen BR (Biochemical and biophysical research communications 2003) 3 4 22

Products for EGLN3 Gene

Sources for EGLN3 Gene