EGLN2 (egl-9 family hypoxia inducible factor 2)

2007-02-01 Affiliation

Identity

HGNC

EGLN2

LOCATION

19q13.2

LOCUSID

112398

ALIAS

EIT-6,EIT6,HIF-PH1,HIFPH1,HPH-1,HPH-3,PHD1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 112398
MIM: 606424
HGNC: 14660
Ensembl: ENSG00000269858

Variants:

dbSNP: 112398
ClinVar: 112398
TCGA: ENSG00000269858
COSMIC: EGLN2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000269858	ENST00000303961	Q96KS0
ENSG00000269858	ENST00000303961	A0A024R0R2
ENSG00000269858	ENST00000406058	Q96KS0
ENSG00000269858	ENST00000406058	A0A024R0R2
ENSG00000269858	ENST00000593397	M0R1W4
ENSG00000269858	ENST00000593525	M0QXM8
ENSG00000269858	ENST00000593726	Q96KS0
ENSG00000269858	ENST00000593726	A0A024R0R2
ENSG00000269858	ENST00000593972	M0R0Z6
ENSG00000269858	ENST00000594140	A0A0C4DGR4
ENSG00000269858	ENST00000594380	M0R035
ENSG00000269858	ENST00000595051	M0R1A3
ENSG00000269858	ENST00000595621	M0R1L0
ENSG00000269858	ENST00000596517	M0R2X9
ENSG00000269858	ENST00000597746	M0R350
ENSG00000269858	ENST00000598654	M0R110
ENSG00000269858	ENST00000601733	M0QXR0

Expression (GTEx)

100

150

200

250

300

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

Pathway	Source	External ID
Renal cell carcinoma	KEGG	ko05211
Pathways in cancer	KEGG	hsa05200
Renal cell carcinoma	KEGG	hsa05211
HIF-1 signaling pathway	KEGG	hsa04066
Cellular responses to stress	REACTOME	R-HSA-2262752
Cellular response to hypoxia	REACTOME	R-HSA-2262749
Regulation of Hypoxia-inducible Factor (HIF) by oxygen	REACTOME	R-HSA-1234174
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha	REACTOME	R-HSA-1234176

References

Pubmed ID	Year	Title	Citations
38360997	2024	VHL suppresses autophagy and tumor growth through PHD1-dependent Beclin1 hydroxylation.	1
38360997	2024	VHL suppresses autophagy and tumor growth through PHD1-dependent Beclin1 hydroxylation.	1
37847687	2023	Loss of prolyl hydroxylase 1 and 2 in SM22α-expressing cells prevents Hypoxia-Induced pulmonary hypertension.	1
37847687	2023	Loss of prolyl hydroxylase 1 and 2 in SM22α-expressing cells prevents Hypoxia-Induced pulmonary hypertension.	1
32458625	2020	Association of EGLN2 rs10680577 Polymorphism with the Risk and Clinicopathological Features of Patients with Prostate Cancer.	0
32458625	2020	Association of EGLN2 rs10680577 Polymorphism with the Risk and Clinicopathological Features of Patients with Prostate Cancer.	0
30665327	2019	EGLN2 DNA methylation and expression interact with HIF1A to affect survival of early-stage NSCLC.	20
31414584	2019	Association between an indel polymorphism within the distal promoter of EGLN2 and cancer risk: An updated meta-analysis.	1
31500697	2019	Lack of activity of recombinant HIF prolyl hydroxylases (PHDs) on reported non-HIF substrates.	52
31729379	2019	Prolyl hydroxylase substrate adenylosuccinate lyase is an oncogenic driver in triple negative breast cancer.	18
30665327	2019	EGLN2 DNA methylation and expression interact with HIF1A to affect survival of early-stage NSCLC.	20
31414584	2019	Association between an indel polymorphism within the distal promoter of EGLN2 and cancer risk: An updated meta-analysis.	1
31500697	2019	Lack of activity of recombinant HIF prolyl hydroxylases (PHDs) on reported non-HIF substrates.	52
31729379	2019	Prolyl hydroxylase substrate adenylosuccinate lyase is an oncogenic driver in triple negative breast cancer.	18
29277791	2018	Strong Prolyl Hydroxylase Domain 1 Expression Predicts Poor Outcome in Radiotherapy-treated Patients with Classical Hodgkin's Lymphoma.	3

Citation

Dessen P

EGLN2 (egl-9 family hypoxia inducible factor 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46124/egln2