EGLN2 - egl-9 family hypoxia inducible factor 2 Gene

Homo sapiens

Also known as EIT6; PHD1; EIT-6; HPH-1; HPH-3; HIFPH1; HIF-PH1

Gene ID: 112398 | Gene type: protein coding

About EGLN2

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:40,799,191-40,808,434 (from NCBI)

This gene has 18 transcripts (splice variants), 195 orthologues and 2 paralogues. Broad expression in testis (RPKM 61.2), spleen (RPKM 33.0) and 24 other tissues.

Summary

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]

EGLN2 Products(2)

mRNA	Protein	Name
NM_053046.4	NP_444274.1	prolyl hydroxylase EGLN2
NM_080732.4	NP_542770.2	prolyl hydroxylase EGLN2

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	11595184	GOA
enables ferrous iron binding	IDA IDA: Inferred from direct assay	28594552	GOA
enables oxygen sensor activity	IDA IDA: Inferred from direct assay	11595184	GOA
enables peptidyl-proline 4-dioxygenase activity	IDA IDA: Inferred from direct assay	11598268	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16511565	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cell redox homeostasis	IDA IDA: Inferred from direct assay	11595184	GOA
involved in peptidyl-proline hydroxylation to 4-hydroxy-L-proline	IDA IDA: Inferred from direct assay	12039559	GOA
involved in positive regulation of protein catabolic process	IDA IDA: Inferred from direct assay	11595184	GOA
involved in regulation of neuron apoptotic process	IMP IMP: Inferred from mutant phenotype	19587290	GOA
involved in response to hypoxia	IDA IDA: Inferred from direct assay	11595184	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	11850811	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

EGLN2 Protein Structure

2OG-FeII_Oxy_3

0
100
200
300
407 a.a.

Protein Preferred Names

Protein Names

prolyl hydroxylase EGLN2

HIF-prolyl hydroxylase 1

Related Diseases

Diseases

Alias

Polycythemia

Erythrocythemia	Polycythemia Vera
Polycythaemia Due To High Altitude

Autoimmune Polyendocrine Syndrome Type 1

Whitaker Syndrome	Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy
Autoimmune Polyglandular Syndrome I	Polyglandular Type I Autoimmune Syndrome

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, 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

Erythrocytosis, Familial, 3

ECYT3	Familial Erythrocytosis 3
Erythrocytosis, Familial, Type 3

Erythrocytosis, Familial, 5

ECYT5

Familial Erythrocytosis 5

Acquired Polycythemia

Secondary Polycythemia	Polycythemia, Secondary
Secondary Erythrocytosis	Polycythemia Secondary

Erythrocytosis, Familial, 4

ECYT4	Familial Erythrocytosis 4
Erythrocytosis, Familial, Type 4

Autoimmune Polyendocrine Syndrome

Autoimmune Polyendocrinopathy	Autoimmune Polyglandular Failure
Autoimmune Polyglandular Syndrome	Polyendocrinopathies, Autoimmune
Lloyd'S Syndrome	Aps
Polyendocrinopathies Autoimmune	Polyendocrine Autoimmunity Syndrome
Lloyd Syndrome	Polyglandular Autoimmune Deficiency
Progressive Pluriglandular Insufficiency	Pluriglandular Autoimmune Atrophy
Pluriglandular Autoimmune Syndrome	Thyroid-Adrenocortical Insufficiency Syndrome

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

Paraganglioma And Gastric Stromal Sarcoma

Carney-Stratakis Syndrome	Paraganglioma And Gastrointestinal Stromal Tumor
Carney Dyad	Carney-Stratakis Dyad Of Paraganglioma And Gastric Stromal Sarcoma
Paraganglioma And Gist	Carney-Stratakis Dyad
Gist-Paraganglioma Dyad	PGGSS
Paraganglioma, Gastric Stromal Sarcoma	Gastrointestinal Stromal Tumors

Erythrocytosis, Familial, 1

ECYT1	Pfcp
Primary Familial And Congenital Polycythemia	Familial Erythrocytosis 1
Familial Erythrocytosis	Polycythemia, Primary Familial And Congenital
Autosomal Dominant Benign Erythrocytosis	Familial Erythrocytosis Type 1
Congenital Erythrocytosis Due To Erythropoietin Receptor Mutation	Congenital Polycythemia Due To Erythropoietin Receptor Mutation
Primary Congenital Erythrocytosis	Primary Familial Polycythemia
Erythrocytosis, Autosomal Dominant Benign	Erythrocytosis, Somatic
Autosomal Dominant Familial Erythrocytosis-1	Erythrocytosis Autosomal Dominant Benign
Familial Primary Polycythemia	Familial Erythrocytosis, 1
Erythrocytosis, Familial, Type 1

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-RS04213	EGLN2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	EGLN2	VGNC	VGNC:97413
Mus musculus	EGLN2	MGD	MGI:1932287
Bos taurus	EGLN2	VGNC	VGNC:97265
Rattus norvegicus	EGLN2	RGD	RGD:631376
Canis familiaris	EGLN2	VGNC	VGNC:97191

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