EGLN2 - egl-9 family hypoxia inducible factor 2 Gene

中文名称：egl-9 家族缺氧诱导因子 2

种属: Homo sapiens

同用名: EIT6; PHD1; EIT-6; HPH-1; HPH-3; HIFPH1; HIF-PH1

基因 ID: 112398 | 基因类型: protein coding

关于 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.

功能概要

缺氧诱导因子 (HIF) 是一种参与氧稳态的转录复合物。在正常氧气水平下，HIF 的 α 亚基被脯氨酰羟基化作用靶向降解。该基因编码负责这种翻译后修饰的酶。可变剪接导致多个转录本变体。该基因与上游 RAB4B (RAB4B，成员 Ras 致癌基因家族) 基因之间也存在通读转录。[RefSeq 提供，2011 年 2 月]

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 基因产物(2)

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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables 2-oxoglutarate-dependent dioxygenase activity	IDA IDA: 通过直接分析推断	11595184	GOA
enables ferrous iron binding	IDA IDA: 通过直接分析推断	28594552	GOA
enables oxygen sensor activity	IDA IDA: 通过直接分析推断	11595184	GOA
enables peptidyl-proline 4-dioxygenase activity	IDA IDA: 通过直接分析推断	11598268	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	16511565	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cell redox homeostasis	IDA IDA: 通过直接分析推断	11595184	GOA
involved in peptidyl-proline hydroxylation to 4-hydroxy-L-proline	IDA IDA: 通过直接分析推断	12039559	GOA
involved in positive regulation of protein catabolic process	IDA IDA: 通过直接分析推断	11595184	GOA
involved in regulation of neuron apoptotic process	IMP IMP: 通过突变表型推断	19587290	GOA
involved in response to hypoxia	IDA IDA: 通过直接分析推断	11595184	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in nucleus	IDA IDA: 通过直接分析推断	11850811	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

EGLN2 蛋白结构

2OG-FeII_Oxy_3

0
100
200
300
407 a.a.

蛋白主名

其他名称

prolyl hydroxylase EGLN2

HIF-prolyl hydroxylase 1

EGLN2 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	EGLN2	Q96KS0	HIF1A	Homo sapiens	Q16665	Experimental Interac	15474027

种属间: 跨种属相互作用 种属内: 同种属相互作用

EGLN2 抗体

目录号	产品名	应用	反应物种
HY-P83580	PHD1 Antibody (YA3325)	WB	Human, Rat

关联疾病

疾病名称

别名

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

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS04213	EGLN2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。	站点地图隐私声明
沪ICP备15051369号-4 上海工商沪公网安备31011502019417 沪(浦)应急管危经许[2021]201709(QFYS) 营业执照（三证合一）
Copyright © 2013-2025 MedChemExpress. All Rights Reserved.

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

EGLN2 - egl-9 family hypoxia inducible factor 2 Gene

关于 EGLN2

功能概要

EGLN2 基因产物(2)

EGLN2 蛋白结构

EGLN2 蛋白互作信息

EGLN2 抗体

关联疾病

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

姓名
邮箱 *

Sorry, but the email address you supplied was invalid.

EGLN2 - egl-9 family hypoxia inducible factor 2 Gene

关于 EGLN2

功能概要

EGLN2 基因产物(2)

EGLN2 蛋白结构

EGLN2 蛋白互作信息

EGLN2 抗体

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z