EGLN2 (egl-9 family hypoxia inducible factor 2)

2007-02-01  

Identity

HGNC
LOCATION
19q13.2
LOCUSID
ALIAS
EIT-6,EIT6,HIF-PH1,HIFPH1,HPH-1,HPH-3,PHD1
FUSION GENES

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000269858ENST00000303961Q96KS0
ENSG00000269858ENST00000303961A0A024R0R2
ENSG00000269858ENST00000406058Q96KS0
ENSG00000269858ENST00000406058A0A024R0R2
ENSG00000269858ENST00000593397M0R1W4
ENSG00000269858ENST00000593525M0QXM8
ENSG00000269858ENST00000593726Q96KS0
ENSG00000269858ENST00000593726A0A024R0R2
ENSG00000269858ENST00000593972M0R0Z6
ENSG00000269858ENST00000594140A0A0C4DGR4
ENSG00000269858ENST00000594380M0R035
ENSG00000269858ENST00000595051M0R1A3
ENSG00000269858ENST00000595621M0R1L0
ENSG00000269858ENST00000596517M0R2X9
ENSG00000269858ENST00000597746M0R350
ENSG00000269858ENST00000598654M0R110
ENSG00000269858ENST00000601733M0QXR0

Expression (GTEx)

0
50
100
150
200
250
300

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
204188902010Genome-wide meta-analyses identify multiple loci associated with smoking behavior.463
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
171142962006Prolyl hydroxylase-1 negatively regulates IkappaB kinase-beta, giving insight into hypoxia-induced NFkappaB activity.240
123516782002Biochemical purification and pharmacological inhibition of a mammalian prolyl hydroxylase acting on hypoxia-inducible factor.167
171017812007Multiple factors affecting cellular redox status and energy metabolism modulate hypoxia-inducible factor prolyl hydroxylase activity in vivo and in vitro.117
206000112010Loss of prolyl hydroxylase-1 protects against colitis through reduced epithelial cell apoptosis and increased barrier function.78
151565612004Regulation of HIF prolyl hydroxylases by hypoxia-inducible factors.57
230261372012An insertion/deletion polymorphism within RERT-lncRNA modulates hepatocellular carcinoma risk.32
239329022013PHD1 links cell-cycle progression to oxygen sensing through hydroxylation of the centrosomal protein Cep192.32

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