EGLN3 - egl-9 family hypoxia inducible factor 3 Gene

Also Known as PHD3; HIFPH3; HIFP4H3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 112399

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	References	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	References	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	References	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

0
100
200
239 a.a.

Protein Preferred Names	Protein Names
prolyl hydroxylase EGLN3	HIF-PH3

EGLN3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	EGLN3	Q9H6Z9	CTBP2	Homo sapiens	P56545-3	Y2H Array	32296183
Intra	EGLN3	Q9H6Z9	CTBP2	Homo sapiens	P56545-3	Y2H Prey Pooling	32296183
Intra	EGLN3	Q9H6Z9	HIF1A	Homo sapiens	D0VY79	Y2H Array	25416956
Intra	EGLN3	Q9H6Z9	HIF1A	Homo sapiens	D0VY79	Validated Y2H	25416956
Intra	EGLN3	Q9H6Z9	HIF1A	Homo sapiens	D0VY79	Y2H Prey Pooling	25416956
Intra	EGLN3	Q9H6Z9	TTC23L	Homo sapiens	Q6PF05-3	Y2H Array	25416956
Intra	EGLN3	Q9H6Z9	TTC23L	Homo sapiens	Q6PF05-3	Y2H Prey Pooling	25416956
Intra	EGLN3	Q9H6Z9	NCAPH2	Homo sapiens	Q6IBW4-4	Y2H Array	25416956
Intra	EGLN3	Q9H6Z9	NCAPH2	Homo sapiens	Q6IBW4-4	Y2H Prey Pooling	25416956
Intra	EGLN3	Q9H6Z9	RBBP8NL	Homo sapiens	Q8NC74	Y2H Prey Pooling	32296183
Intra	EGLN3	Q9H6Z9	RBBP8NL	Homo sapiens	Q8NC74	Y2H Array	32296183
Intra	EGLN3	Q9H6Z9	FAM168B	Homo sapiens	A1KXE4-2	Y2H Prey Pooling	32296183
Intra	EGLN3	Q9H6Z9	FAM168B	Homo sapiens	A1KXE4-2	Y2H Array	32296183
Intra	EGLN3	Q9H6Z9	DUSP7	Homo sapiens	Q16829	Y2H Prey Pooling	32296183
Intra	EGLN3	Q9H6Z9	DUSP7	Homo sapiens	Q16829	Y2H Array	32296183
Intra	EGLN3	Q9H6Z9	MAPK6	Homo sapiens	Q16659	Y2H Array	21988832
Intra	EGLN3	Q9H6Z9	GSC2	Homo sapiens	O15499	Y2H Prey Pooling	32296183
Intra	EGLN3	Q9H6Z9	GSC2	Homo sapiens	O15499	Y2H Array	32296183
Intra	EGLN3	Q9H6Z9	EFHC2	Homo sapiens	Q5JST6	Y2H Prey Pooling	25416956
Intra	EGLN3	Q9H6Z9	SERTAD1	Homo sapiens	Q53GC0	Validated Y2H	25416956
Intra	EGLN3	Q9H6Z9	LDB2	Homo sapiens	O43679	Y2H Array	32296183
Intra	EGLN3	Q9H6Z9	LDB2	Homo sapiens	O43679	Y2H Prey Pooling	32296183
Intra	EGLN3	Q9H6Z9	FOXJ2	Homo sapiens	Q9P0K8	Y2H Array	32296183
Intra	EGLN3	Q9H6Z9	FOXJ2	Homo sapiens	Q9P0K8	Validated Y2H	32296183
Intra	EGLN3	Q9H6Z9	FOXJ2	Homo sapiens	Q9P0K8	Y2H Prey Pooling	32296183
Intra	EGLN3	Q9H6Z9	FOXJ2	Homo sapiens	Q9P0K8	Y2H Array	25416956
Intra	EGLN3	Q9H6Z9	REL	Homo sapiens	Q04864	Anti Tag CoIP	26972000
Intra	EGLN3	Q9H6Z9	PKM	Homo sapiens	P14618-1	Anti Bait CoIP	21620138
Intra	EGLN3	Q9H6Z9	PKM	Homo sapiens	P14618-1	Pull Down	21620138
Intra	EGLN3	Q9H6Z9	PLEKHA2	Homo sapiens	Q9HB19	Validated Y2H	32296183
Intra	EGLN3	Q9H6Z9	HIF1A	Homo sapiens	Q16665	Experimental Interac	15474027
Intra	EGLN3	Q9H6Z9	HIF1A	Homo sapiens	Q16665	Y2H Array	31515488
Intra	EGLN3	Q9H6Z9	HIF1A	Homo sapiens	Q16665	Anti Tag CoIP	26972000
Intra	EGLN3	Q9H6Z9	ZC2HC1A	Homo sapiens	Q96GY0	Y2H Array	32296183
Intra	EGLN3	Q9H6Z9	ZC2HC1A	Homo sapiens	Q96GY0	Y2H Prey Pooling	32296183
Intra	EGLN3	Q9H6Z9	ZNF655	Homo sapiens	Q8N720	Y2H Array	32296183
Intra	EGLN3	Q9H6Z9	ZNF655	Homo sapiens	Q8N720	Y2H Prey Pooling	32296183
Intra	EGLN3	Q9H6Z9	IK	Homo sapiens	Q13123	Y2H Array	32296183
Intra	EGLN3	Q9H6Z9	IK	Homo sapiens	Q13123	Y2H Prey Pooling	32296183
Intra	EGLN3	Q9H6Z9	OS9	Homo sapiens	Q13438	Anti Tag CoIP	15721254
Intra	EGLN3	Q9H6Z9	OS9	Homo sapiens	Q13438	Anti Tag CoIP	26972000
Intra	EGLN3	Q9H6Z9	LNX1	Homo sapiens	Q8TBB1	Y2H Array	32296183
Intra	EGLN3	Q9H6Z9	LNX1	Homo sapiens	Q8TBB1	Y2H Prey Pooling	32296183
Intra	EGLN3	Q9H6Z9	ABI2	Homo sapiens	Q9NYB9	Validated Y2H	25416956
Intra	EGLN3	Q9H6Z9	IKZF3	Homo sapiens	Q9UKT9	Validated Y2H	32296183
Intra	EGLN3	Q9H6Z9	IKZF3	Homo sapiens	Q9UKT9	Y2H Array	32296183
Intra	EGLN3	Q9H6Z9	IKZF3	Homo sapiens	Q9UKT9	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

EGLN3 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81867	PHD3 Antibody (YA1612)	WB, IHC-P, IP	Human, Mouse, Rat
HY-P81867A	PHD3 Antibody (YA1612)(PBS only)	WB, IHC-P, IP	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-168533	ZG-2305	Inhibitor	98.60%	Unkown
HY-RS04214	EGLN3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20396	Egln3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26905	Egln3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	EGLN3	NCBI