EGLN3 (egl-9 family hypoxia inducible factor 3)

2007-04-01  

Identity

HGNC
EGLN3
LOCATION
14q13.1
LOCUSID
112399
ALIAS
HIFP4H3,HIFPH3,PHD3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 112399
MIM: 606426
HGNC: 14661
Ensembl: ENSG00000129521

Variants:

dbSNP: 112399
ClinVar: 112399
TCGA: ENSG00000129521
COSMIC: EGLN3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000129521ENST00000250457Q9H6Z9
ENSG00000129521ENST00000487915G3V3M1
ENSG00000129521ENST00000547327F8VR39
ENSG00000129521ENST00000553215F8W1G2

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Renal cell carcinomaKEGGko05211
Pathways in cancerKEGGhsa05200
Renal cell carcinomaKEGGhsa05211
HIF-1 signaling pathwayKEGGhsa04066
Cellular responses to stressREACTOMER-HSA-2262752
Cellular response to hypoxiaREACTOMER-HSA-2262749
Regulation of Hypoxia-inducible Factor (HIF) by oxygenREACTOMER-HSA-1234174
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor AlphaREACTOMER-HSA-1234176

References

Pubmed IDYearTitleCitations
216201382011Pyruvate kinase M2 is a PHD3-stimulated coactivator for hypoxia-inducible factor 1.421
152472322004Differential function of the prolyl hydroxylases PHD1, PHD2, and PHD3 in the regulation of hypoxia-inducible factor.329
223438962012Transformation by the (R)-enantiomer of 2-hydroxyglutarate linked to EGLN activation.276
160984682005Neuronal apoptosis linked to EglN3 prolyl hydroxylase and familial pheochromocytoma genes: developmental culling and cancer.149
183473412008PHDs overactivation during chronic hypoxia "desensitizes" HIFalpha and protects cells from necrosis.83
176841562007Oxygen-dependent ATF-4 stability is mediated by the PHD3 oxygen sensor.76
195843552009Oxygen-regulated beta(2)-adrenergic receptor hydroxylation by EGLN3 and ubiquitylation by pVHL.64
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
151565612004Regulation of HIF prolyl hydroxylases by hypoxia-inducible factors.57
213175382011Prolyl hydroxylase 3 (PHD3) is essential for hypoxic regulation of neutrophilic inflammation in humans and mice.56

Citation

Dessen P

EGLN3 (egl-9 family hypoxia inducible factor 3)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46747/egln3-(egl-9-family-hypoxia-inducible-factor-3)