EGLN2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | EGLN2 |
| Official Name | egl-9 family hypoxia inducible factor 2 [Source:HGNC Symbol;Acc:HGNC:14660] |
| Ensembl ID | ENSG00000269858 |
| Bio databases IDs | |
| Aliases | egl-9 family hypoxia inducible factor 2, HIF prolyl hydroxylase 1 |
| Synonyms | 0610011A13Rik, egl-9 family hypoxia-inducible factor 2, EIT-6, Falkor, HIF-P4H-1, HIF-P4H-2, HIF-PH1, HPH-1, HPH-3, Ier4, PHD-1, SM-20 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human EGLN2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ferrous iron binding
- oxygen sensor
- 2-oxoglutarate:oxygen oxidoreductase
- enzyme
- protein binding
- 2OG-Fe(II) oxygenase superfamily
- Prolyl 4-hydroxylase alpha subunit homologues
Pathways
Biological processes and signaling networks where the EGLN2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- anemia
- chronic kidney disease
- chronic renal impairment
- renal anemia
- polycythemia
- dialysis dependent chronic kidney disease
- end stage renal disease
- ulcerative colitis
- non-dialysis dependent chronic kidney disease
- tumorigenesis
role in cell
- binding
- differentiation
- growth
- apoptosis
- expression in
- cell death
- colony formation
- activation in
- degradation in
- upregulation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Nucleus
- nucleoplasm
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EGLN2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to hypoxia
- regulation of cell growth
- positive regulation of protein catabolic process
- cell redox homeostasis
- cellular response to hypoxia
- regulation of neuron apoptotic process
- intracellular estrogen receptor signaling pathway
- peptidyl-proline hydroxylation to 4-hydroxy-L-proline
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- L-ascorbic acid binding
- protein binding
- oxygen sensor activity
- ferrous iron binding
- oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors
- peptidyl-proline 4-dioxygenase activity