1. Gene
  2. EPAS1 - endothelial PAS domain protein 1 Gene

EPAS1 - endothelial PAS domain protein 1 Gene

中文名称:内皮 PAS 结构域蛋白 1

种属: Homo sapiens

同用名: HLF; MOP2; ECYT4; HIF2A; PASD2; bHLHe73

基因 ID: 2034 | 基因类型: protein coding

关于 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.


该基因编码的转录因子参与诱导受氧调节的基因,随着氧水平下降而被诱导。编码的蛋白质包含一个碱性-螺旋-环-螺旋结构域蛋白质二聚化结构域,以及在信号转导通路中对氧水平作出反应的蛋白质中发现的结构域。该基因的突变与 4 型家族性红细胞增多症有关。[RefSeq 提供,2009 年 11 月]

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 基因产物(1)

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

EPAS1 蛋白结构


PAS: PAS fold (93 - 163)


PAS_11: PAS domain (243 - 348)


HIF-1: Hypoxia-inducible factor-1 (517 - 549)


HIF-1a_CTAD: HIF-1 alpha C terminal transactivation domain (831 - 870)

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  • 870 a.a.
蛋白主名 其他名称

endothelial PAS domain-containing protein 1



疾病名称 别名
Erythrocytosis, Familial, 4


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


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


Capillary Hemangioblastoma



Polycythemia Vera

Polycythaemia Due To High Altitude


Pheochromocytoma, Susceptibility To


Adrenal Gland Chromaffin Paraganglioma

Adrenal Gland Chromaffinoma

Adrenal Gland Paraganglioma

Adrenal Gland Pheochromocytoma

Chromaffin Paraganglioma Of The Adrenal Gland

Intraadrenal Paraganglioma


Chromaffin Cell Tumor

Medullary Chromaffinoma

Medullary Paraganglioma



Chromaffin Cell Neoplasm

Pheochromocytoma, Malignant



Glomus Body Tumor


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


Persistant Generalized Lymphadenopathy

Erythrocytosis, Familial, 3


Familial Erythrocytosis 3

Erythrocytosis, Familial, Type 3

Erythrocytosis, Familial, 5


Familial Erythrocytosis 5

Erythrocytosis, Familial, 1



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


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


Connective And Soft Tissue Neoplasm

Tumor Of Soft Tissue And Skeleton


Sarcoma - Category

Renal Cell Carcinoma, Nonpapillary

Renal Cell Carcinoma


Nonpapillary Renal Cell Carcinoma

Clear Cell Renal Cell Carcinoma


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


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


Renal Cell Carcinoma Non-Papillary

Carcinoma Renal Cell

Renal Cell Cancer

Carcinoma, Renal Cell, Nonpapillary

Alcoholic Psychosis

Psychoses, Alcoholic

Alcoholic Psychoses

Erythrocytosis, Familial, 6


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


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


Deficiency Anemias


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


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 Syndrome


Von Hippel-Lindau Syndrome, Modifier Of

Hippel Lindau Syndrome

Angiomatosis Retinae

Cerebelloretinal Angiomatosis, Familial

Hippel-Lindau Disease

Familial Cerebelloretinal Angiomatosis

Lindau Disease


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


Willis-Ekbom Disease

Restless Leg Syndrome

Ekbom Syndrome

Wittmaack-Ekbom Syndrome

Willis Ekbom Disease

Ekbom'S Syndrome


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


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 Type 1

Hereditary Hemochromatosis



Hfe Hemochromatosis, Modifier Of

Symptomatic Form Of Classic Hemochromatosis

Symptomatic Form Of Hemochromatosis Type 1

Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis


Iron Storage Disorder

Bronze Diabetes

Hereditary Haemochromatosis



Hemochromatosis, Hereditary

Diabetes Bronze

Classic Hemochromatosis

Hfe-Associated Hereditary Hemochromatosis

Hemochromatosis Classic

Bronzed Cirrhosis

Familial Hemochromatosis

Genetic Hemochromatosis


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



Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma


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


Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma


Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour

Bardet-Biedl Syndrome


Biedl-Bardet Syndrome

疾病名称 别名
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


种属 基因名 来源 基因 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