2. Gene
  3. EGLN3 - egl-9 family hypoxia inducible factor 3 Gene

EGLN3 - egl-9 family hypoxia inducible factor 3 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as PHD3; HIFPH3; HIFP4H3

Gene ID: 112399 | Gene type: protein coding

About EGLN3

Cytogenetic location: 14q13.1 Genomic coordinates (GRCh38): 14:33,924,227-33,951,074 (from NCBI)

This gene has 11 transcripts (splice variants), 209 orthologues and 2 paralogues. Broad expression in skin (RPKM 31.3), heart (RPKM 27.7) and 16 other tissues.

Summary

Enables peptidyl-proline 4-dioxygenase activity. Involved in several processes, including activation of cysteine-type endopeptidase activity involved in apoptotic process; peptidyl-proline hydroxylation to 4-hydroxy-L-proline; and response to hypoxia. Located in cytosol and nucleus. Implicated in renal cell carcinoma. Biomarker of clear cell renal cell carcinoma. [provided by Alliance of Genome Resources, Apr 2022]

EGLN3 Products(2)

mRNA Protein Name
NM_001308103.2 NP_001295032.1 prolyl hydroxylase EGLN3 isoform 2
NM_022073.4 NP_071356.1 prolyl hydroxylase EGLN3 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables 2-oxoglutarate-dependent dioxygenase activity IDA
IDA: Inferred from direct assay
22955912 GOA
enables peptidyl-proline 4-dioxygenase activity IDA
IDA: Inferred from direct assay
11598268 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
15721254 GOA
Biological Process GO Annotation Evidence Reference Source
involved in activation of cysteine-type endopeptidase activity involved in apoptotic process IEP
IEP: Inferred from expression pattern
20978507 GOA
involved in apoptotic process IEP
IEP: Inferred from expression pattern
20978507 GOA
involved in protein hydroxylation IDA
IDA: Inferred from direct assay
19584355 GOA
involved in regulation of cell population proliferation IEP
IEP: Inferred from expression pattern
20978507 GOA
involved in response to hypoxia IEP
IEP: Inferred from expression pattern
20978507 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IDA
IDA: Inferred from direct assay
12615973 GOA
located in nucleus IDA
IDA: Inferred from direct assay
12615973 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EGLN3 Protein Structure

2OG-FeII_Oxy_3

2OG-FeII_Oxy_3: 2OG-Fe(II) oxygenase superfamily (121 - 212)

  • 0
  • 100
  • 200
  • 239 a.a.
Protein Preferred Names Protein Names

prolyl hydroxylase EGLN3

HIF-PH3

Related Diseases

Diseases Alias
Polycythemia

Erythrocythemia

Polycythemia Vera

Polycythaemia Due To High Altitude
Erythrocytosis, Familial, 2

Chuvash Polycythemia

ECYT2

Familial Erythrocytosis 2

Autosomal Recessive Benign Erythrocytosis

Polycythemia, Vhl-Dependent

Chuvash Erythromatosis

Chuvash Type Polycythemia

Chuvash Erythrocytosis

Von Hippel-Lindau-Dependent Polycythemia

Polycythemia Chuvash Type

Vhl-Dependent Polycythemia

Erythrocytosis, Familial, Type 2
Primary Polycythemia

Familial Erythrocytosis

Familiar Polycythemia

Benign Familial Polycythemia

Congenital Erythrocytosis

Familial Polycythemia

Hereditary Erythrocytosis

Primary Familial Polycythemia

Erythrocytosis, Familial

Polycythemia Vera

Primary Familial Polycythaemia

Primary Inherited Polycythaemia
Erythrocytosis, Familial, 4

ECYT4

Familial Erythrocytosis 4

Erythrocytosis, Familial, Type 4
Erythrocytosis, Familial, 3

ECYT3

Familial Erythrocytosis 3

Erythrocytosis, Familial, Type 3
Erythrocytosis, Familial, 5

ECYT5

Familial Erythrocytosis 5
Esophagus Leiomyoma

Leiomyoma Of Esophagus
Pheochromocytoma

Pheochromocytoma, Susceptibility To

Phaeochromocytoma

Adrenal Gland Chromaffin Paraganglioma

Adrenal Gland Chromaffinoma

Adrenal Gland Paraganglioma

Adrenal Gland Pheochromocytoma

Chromaffin Paraganglioma Of The Adrenal Gland

Intraadrenal Paraganglioma

PCC

Chromaffin Cell Tumor

Medullary Chromaffinoma

Medullary Paraganglioma

Pheochromoblastoma

Pheochromocytomas

Chromaffin Cell Neoplasm

Pheochromocytoma, Malignant
Renal Cell Carcinoma, Nonpapillary

Renal Cell Carcinoma

RCC

Nonpapillary Renal Cell Carcinoma

Clear Cell Renal Cell Carcinoma

Hypernephroma

Adenocarcinoma Of Kidney

Renal Carcinoma, Chromophobe, Somatic

Clear Cell Carcinoma Of Kidney

Clear-Cell Metastatic Renal Cell Carcinoma

Clear Cell Renal Carcinoma

Renal Cell Carcinoma, Somatic

Conventional Renal Cell Carcinoma

Conventional Renal Cell Carcinoma

Renal Clear Cell Carcinoma

Ccrcc

Hereditary Clear Cell Renal Cell Carcinoma

Carcinoma, Renal Cell

Renal Cell Carcinoma, Clear Cell, Somatic

Renal Cell Carcinoma, Clear Cell

Clear Cell Kidney Carcinoma

Clear Cell Rcc

Cystic-Multilocular Variant

Clear Cell Renal Cell Adenocarcinoma

Hereditary Clear Cell Renal Cell Adenocarcinoma

Common Renal Cell Carcinoma

Crcc

Renal Cell Carcinoma Non-Papillary

Carcinoma Renal Cell

Renal Cell Cancer

Carcinoma, Renal Cell, Nonpapillary
Erythrocytosis, Familial, 7

ECYT7

Erythrocytosis 7

Familial Erythrocytosis 7

Erythrocytosis, Alpha-Globin Type

Polycythemia, Alpha-Globin Type

Alpha-Globin Type Erythrocytosis

Alpha-Globin Type Polycythemia
Von Hippel-Lindau Syndrome

Von Hippel-Lindau Disease

Vhl

Vhl Syndrome

VHLS

Von Hippel-Lindau Syndrome, Modifier Of

Hippel Lindau Syndrome

Angiomatosis Retinae

Cerebelloretinal Angiomatosis, Familial

Hippel-Lindau Disease

Familial Cerebelloretinal Angiomatosis

Lindau Disease

VHLD
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (2)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-168533 ZG-2305 Inhibitor / Unkown
HY-RS04214 EGLN3 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta EGLN3 VGNC VGNC:72049
Rattus norvegicus EGLN3 RGD RGD:71019
Canis familiaris EGLN3 VGNC VGNC:40241
Mus musculus EGLN3 MGD MGI:1932288
Bos taurus EGLN3 VGNC VGNC:28367