EPAS1 - endothelial PAS domain protein 1 Gene

Also Known as HLF; MOP2; ECYT4; HIF2A; PASD2; bHLHe73

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2034

About EPAS1

Cytogenetic location: 2p21 Genomic coordinates (GRCh38): 2:46,297,407-46,386,697 (from NCBI)

This gene has 10 transcripts (splice variants), 253 orthologues, 7 paralogues and is associated with 77 phenotypes. Broad expression in lung (RPKM 304.3), placenta (RPKM 244.1) and 22 other tissues.

Summary

This gene encodes a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. The encoded protein contains a basic-helix-loop-helix domain protein dimerization domain as well as a domain found in proteins in signal transduction pathways which respond to oxygen levels. Mutations in this gene are associated with erythrocytosis familial type 4. [provided by RefSeq, Nov 2009]

EPAS1 Products (1)

mRNA	Protein	Name
NM_001430.5	NP_001421.2	endothelial PAS domain-containing protein 1

EPAS1 Protein Structure

PAS

PAS_11

HIF-1

HIF-1a_CTAD

0
200
400
600
800
870 a.a.

Protein Preferred Names	Protein Names
endothelial PAS domain-containing protein 1	EPAS-1

EPAS1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	EPAS1	Q99814	USP8	Homo sapiens	P40818	Anti Bait CoIP	24378640
Intra	EPAS1	Q99814	EGLN1	Homo sapiens	Q9GZT9	Gal4 VP16 Complement	30487161
Intra	EPAS1	Q99814	RBM4	Homo sapiens	Q9BWF3-1	Anti Bait CoIP	22678294
Intra	EPAS1	Q99814	RBM4	Homo sapiens	Q9BWF3-1	Anti Tag CoIP	22678294
Intra	EPAS1	Q99814	BBS4	Homo sapiens	Q96RK4	Y2H	18000879
Intra	EPAS1	Q99814	SP1	Homo sapiens	P08047	Anti Bait CoIP	17024177
Intra	EPAS1	Q99814	EIF3E	Homo sapiens	P60228	Anti Tag CoIP	17324924
Intra	EPAS1	Q99814	EIF3E	Homo sapiens	P60228	Anti Bait CoIP	17324924
Intra	EPAS1	Q99814	EIF3E	Homo sapiens	P60228	IF	17324924
Intra	EPAS1	Q99814	EIF3E	Homo sapiens	P60228	Y2H	17324924
Intra	EPAS1	Q99814	EIF4E2	Homo sapiens	O60573	Anti Bait CoIP	22678294
Intra	EPAS1	Q99814	MAX	Homo sapiens	P61244	Anti Bait CoIP	17418410
Intra	EPAS1	Q99814	ARNT	Homo sapiens	P27540	X-Ray Diffraction	19129502
Intra	EPAS1	Q99814	ARNT	Homo sapiens	P27540	Alpha-Screen	23434853
Intra	EPAS1	Q99814	ARNT	Homo sapiens	P27540	TAP	24981860
Intra	EPAS1	Q99814	ARNT	Homo sapiens	P27540	NMR	19129502
Intra	EPAS1	Q99814	ARNT	Homo sapiens	P27540	X-Ray Diffraction	23434853
Intra	EPAS1	Q99814	ARNT	Homo sapiens	P27540	Anti Bait CoIP	23434853

Cross: Cross-species interaction Intra: Intraspecies interaction

EPAS1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81153	HIF-2 alpha Antibody (YA3517)	WB, IHC-P, FC	Human, Mouse, Rat
HY-P81700	HIF-2 alpha Antibody (YA1445)	WB, ICC/IF, FC	Human, Mouse, Rat
HY-P84756	HIF-2 alpha Antibody (YA4453)	IHC-P, ICC/IF, FC, ELISA	Human
HY-P84756A	HIF-2 alpha Antibody (YA4453)(PBS only)	IHC-P, ICC/IF, FC, ELISA	Human

Related Diseases

Diseases	Alias
Erythrocytosis, Familial, 4	ECYT4 Familial Erythrocytosis 4 Erythrocytosis, Familial, Type 4
Multiple Paragangliomas Associated With Polycythemia	Multiple Paragangliomas Associated With Erythrocytosis Paraganglioma-Somatostatinoma-Polycythemia Syndrome
Sporadic Pheochromocytoma/Secreting Paraganglioma
Autosomal Dominant Secondary Polycythemia	Autosomal Dominant Secondary Erythrocytosis
Somatostatinoma	Somatostatin Cell Neoplasm Somatostatin Cell Tumour Ampullary Somatostatinoma Carcinoid Somatostatinoma Malignant Islet Cell Tumor Somatomedin-Secreting Carcinoid Somatostatin-Secreting Pancreatic Neoplasm Pancreatic Somatostatinoma Pancreatic Endocrine Carcinoma
Duodenal Somatostatinoma	Duodenal Delta Cell Somatostatin Producing Tumor Duodenal Somatostatin-Producing Neuroendocrine Tumor
Hemangioblastoma	Capillary Hemangioblastoma
Polycythemia	Erythrocythemia Polycythemia Vera Polycythaemia Due To High Altitude
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	Chemodectoma Glomus Body Tumor Paragangliomas Carotid Body Paraganglioma Extra-Adrenal Paraganglioma
Acquired Polycythemia	Secondary Polycythemia Polycythemia, Secondary Secondary Erythrocytosis Polycythemia Secondary
Chiari Malformation
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
Persistent Generalized Lymphadenopathy	Pgl Persistant Generalized Lymphadenopathy
Erythrocytosis, Familial, 3	ECYT3 Familial Erythrocytosis 3 Erythrocytosis, Familial, Type 3
Erythrocytosis, Familial, 5	ECYT5 Familial Erythrocytosis 5
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
Pulmonary Edema
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
Sarcoma	Connective And Soft Tissue Neoplasm Tumor Of Soft Tissue And Skeleton Sarcomas Sarcoma - Category
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
Alcoholic Psychosis	Psychoses, Alcoholic Alcoholic Psychoses
Erythrocytosis, Familial, 6	ECYT6 Erythrocytosis 6 Familial Erythrocytosis 6 Erythrocytosis, Beta-Globin Type Polycythemia, Beta-Globin Type Beta-Globin Type Erythrocytosis Beta-Globin Type Polycythemia
Retinal Hemangioblastoma	Capillary Hemangioma Of Retina
Kidney Cancer	Renal Cancer Renal Carcinoma Kidney Neoplasm Malignant Neoplasm Of Kidney Except Pelvis Malignant Tumour Of Kidney Kidney Neoplasms Cancer, Kidney Cancer, Renal Malignant Neoplasm Of Kidney Renal Cell Carcinoma
Mahvash Disease	Gcgr-Related Hyperglucagonemia MVAH Alpha-Cell Hyperplasia With Glucagonemia Nesidioblastosis, Alpha Cell Hyperplasia, Microglucagonoma, And Nonfunctioning Islet Cell Tumor Nesidioblastosis Alpha Cell Hyperplasia Microglucagonoma And Nonfunctioning Islet Cell Tumor
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Bladder Cancer	Urinary Bladder Cancer Bladder Carcinoma Urinary Bladder Carcinoma Bladder Neoplasm Bladder Tumor Cancer, Bladder Malignant Neoplasm Of Urinary Bladder Carcinoma Of Bladder Bladder Cancer, Somatic Tumor Of The Bladder Carcinoma Of Urinary Bladder Bladder Carcinoma Urinary Cancer Of The Urinary Bladder Cancer, Urinary Bladder Malignant Bladder Neoplasm Malignant Bladder Tumor Neoplasm Of The Bladder Neoplasm Of The Urinary Bladder Tumor Of The Urinary Bladder Urinary Bladder Neoplasm BLC Urothelial Carcinoma Of The Bladder Bladder Tumors Urinary Bladder Neoplasms Bladder Cancer Nos Vesical Cancer Nos Malignant Neoplasm Of Bladder, Part Unspecified Malignant Tumour Of Urinary Bladder Primary Malignant Neoplasm Of Bladder
Lymph Node Disease	Abnormality Of The Lymph Nodes Disorder Of Lymph Node
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
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Restless Legs Syndrome	Wed Willis-Ekbom Disease Restless Leg Syndrome Ekbom Syndrome Wittmaack-Ekbom Syndrome Willis Ekbom Disease Ekbom'S Syndrome Rls Restless Legs Restless Legs Syndrome, Susceptibility To
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Hemochromatosis, Type 1	Hemochromatosis Hemochromatosis Type 1 Hereditary Hemochromatosis Hh HFE1 Hfe Hemochromatosis, Modifier Of Symptomatic Form Of Classic Hemochromatosis Symptomatic Form Of Hemochromatosis Type 1 Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis Haemochromatosis Iron Storage Disorder Bronze Diabetes Hereditary Haemochromatosis Hlah Hfe Hemochromatosis, Hereditary Diabetes Bronze Classic Hemochromatosis Hfe-Associated Hereditary Hemochromatosis Hemochromatosis Classic Bronzed Cirrhosis Familial Hemochromatosis Genetic Hemochromatosis Hc Pigmentary Cirrhosis Primary Hemochromatosis Troisier-Hanot-Chauffard Syndrome Von Recklenhausen-Applebaum Disease Hemochromatosis 1 Primary Hereditary Hemochromatosis Bronze Cirrhosis
Hepatocellular Carcinoma	Liver Cancer Primary Liver Cancer HCC Hepatoma Malignant Neoplasm Of Liver Liver Neoplasms Cancer, Hepatocellular Liver Cell Carcinoma Lcc Hepatoblastoma, Somatic Hepatic Cancer Primary Malignant Neoplasm Of Liver Rare Tumor Of Liver And Intrahepatic Biliary Tract Hepatocellular Carcinoma, Somatic Hepatocellular Carcinoma, Childhood Type, Somatic Hepatocellular Cancer, Somatic Ca Liver - Primary Hepatic Neoplasm Malignant Hepato-Biliary Neoplasm Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary Malignant Neoplasm Of Liver, Primary Malignant Tumor Of Liver Neoplasm Of Liver Non-Resectable Primary Hepatic Malignant Neoplasm Resectable Malignant Neoplasm Of Liver Resectable Malignant Neoplasm Of The Liver Primary Liver Carcinoma Primary Malignant Liver Neoplasm Primary Cancer Of Liver Primary Tumor Of The Liver Rare Tumor Of Liver And Ibt Hepatocellular Cancer Neoplasm Of The Liver Carcinoma, Hepatocellular Hepatomas Liver Neoplasm Liver Carcinoma Liver And Intrahepatic Biliary Tract Carcinoma Malignant Hepatobiliary Neoplasm Adult Primary Hepatocellular Carcinoma Hepatoblastoma Carcinoma Of Liver Malignant Liver Tumour Malignant Hepatic Tumour
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome

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

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-147426	Zifcasiran	Inhibitor	/	Phase 1

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04409	EPAS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-147426A	Zifcasiran sodium	Inhibitor	/	Unkown
HY-B0660S1	Eicosapentaenoic acid 1,2,3,4,5-13C5	Activator	/	Unkown
HY-RS18998	Epas1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25487	Epas1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	EPAS1	VGNC	VGNC:40391
Mus musculus	EPAS1	MGD	MGI:109169
Rattus norvegicus	EPAS1	RGD	RGD:68404
Macaca mulatta	EPAS1	VGNC	VGNC:72229
Bos taurus	EPAS1	VGNC	VGNC:28518
Felis catus	EPAS1	VGNC	VGNC:61890
Others	EPAS1	NCBI