EGLN2 - egl-9 family hypoxia inducible factor 2 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 112398

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	References	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	References	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	References	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

EGLN2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	EGLN2	Q96KS0	HIF1A	Homo sapiens	Q16665	Experimental Interac	15474027

Cross: Cross-species interaction Intra: Intraspecies interaction

EGLN2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83580	PHD1 Antibody (YA3325)	WB	Human, Rat
HY-P83580A	PHD1 Antibody (YA3325)(PBS only)	WB	Human, Rat

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

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 Set	/	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
Others	EGLN2	NCBI