EGLN3 - egl-9 family hypoxia inducible factor 3 Gene

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

EGLN3 Protein Structure

2OG-FeII_Oxy_3

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04214	EGLN3 Human Pre-designed siRNA Set A		/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.