ERAP2 - endoplasmic reticulum aminopeptidase 2 Gene

中文名称：内质网氨肽酶 2

种属: Homo sapiens

同用名: LRAP; L-RAP

基因 ID: 64167 | 基因类型: protein coding

关于 ERAP2

Cytogenetic location: 5q15 Genomic coordinates (GRCh38): 5:96,875,939-96,919,716 (from NCBI)

This gene has 11 transcripts (splice variants), 170 orthologues and 11 paralogues. Broad expression in lymph node (RPKM 22.9), spleen (RPKM 19.0) and 23 other tissues.

功能概要

该基因编码位于内质网中的 M1 蛋白酶家族的锌金属氨基肽酶，并在 N 末端修剪抗原表位中发挥作用，以供主要组织相容性复合体 (MHC) I 类分子呈递。该基因的某些突变与炎症性关节炎综合征、强直性脊柱炎和先兆子痫有关。该基因位于 5 号染色体上一个密切相关的氨肽酶基因附近。[RefSeq 提供，2016 年 7 月]

This gene encodes a zinc metalloaminopeptidase of the M1 Protease family that resides in the endoplasmic reticulum and functions in N-terminal trimming antigenic epitopes for presentation by major histocompatibility complex (MHC) class I molecules. Certain mutations in this gene are associated with the inflammatory arthritis syndrome ankylosing spondylitis and pre-eclampsia. This gene is located adjacent to a closely related Aminopeptidase gene on chromosome 5. [provided by RefSeq, Jul 2016]

ERAP2 基因产物(4)

mRNA	Protein	Name
NM_001130140.2	NP_001123612.1	endoplasmic reticulum aminopeptidase 2 isoform 1
NM_001329229.1	NP_001316158.1	endoplasmic reticulum aminopeptidase 2 isoform 2
NM_001329233.1	NP_001316162.1	endoplasmic reticulum aminopeptidase 2 isoform 3
NM_022350.5	NP_071745.1	endoplasmic reticulum aminopeptidase 2 isoform 1

基因本体论

分子功能
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables aminopeptidase activity	IDA IDA: 通过直接分析推断	12799365	GOA
enables endopeptidase activity	EXP EXP: 通过实验结果推断	12436109	GOA
enables metallopeptidase activity	IDA IDA: 通过直接分析推断	12799365	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	15908954	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in endoplasmic reticulum lumen	IDA IDA: 通过直接分析推断	12799365	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

ERAP2 蛋白结构

Peptidase_M1

ERAP1_C

0
200
400
600
800
960 a.a.

蛋白主名

其他名称

endoplasmic reticulum aminopeptidase 2

leukocyte-derived arginine aminopeptidase

重组 ERAP2 蛋白

目录号	产品名	蛋白编号	纯度
HY-P75756	ERAP2 Protein, Human (HEK293, His)	Q6P179-1/NP_071745.1 (A56-T960)	≥95%

关联疾病

疾病名称

别名

Spondylitis

Eclampsia

Eclampsia In Puerperium	Postpartum Eclampsia
Eclampsia, Postpartum	Puerperal Eclampsia

Birdshot Chorioretinopathy

Birdshot Chorioretinitis	Bscr
Birdshot Retinochoroiditis	Birdshot Retinochoroidopathy
Vitiliginous Choroiditis	Multiple Small, Cream-Colored Lesions, Symmetrically Scattered Mainly Around The Optic Disk

Pre-Eclampsia

Preeclampsia	Gestational Hypertension
Hypertension Induced By Pregnancy	Pre-Eclamptic Toxaemia
Pregnancy Associated Hypertension	Proteinuric Hypertension Of Pregnancy
Hypertension, Pregnancy-Induced, Susceptibility To	Preeclampsia/Eclampsia
Pregnancy Toxemia	Toxaemia Of Pregnancy
Gestational Proteinuric Hypertension	Pregnancy-Induced Hypertension
Toxemia Of Pregnancy	Preeclampsia, Susceptibility To
Transient Hypertension Of Pregnancy	Gestational [Pregnancy-Induced] Hypertension Without Significant Proteinuria
Gestational Hypertension Nos	Mild Proteinuric Hypertension Of Pregnancy
Pih - [Pregnancy-Induced Hypertension]	Pregnancy-Induced Hypertension Nos
Gestational [Pregnancy-Induced] Hypertension With Significant Proteinuria	Pe - [Pre-Eclampsia]
Pre-Eclampsia Nos	Pre-Eclamptic Nos
Pregnancy Pre-Eclampsia	Puerperal Pre-Eclampsia
Pre-Eclampsia Toxaemia	Toxaemia In Pregnancy
Pet - [Pre-Eclamptic Toxaemia]	Maternal Toxaemia

Immunodeficiency 48

Combined Immunodeficiency Due To Zap70 Deficiency	IMD48
Selective T-Cell Defect	Stcd
Zeta-Associated-Protein 70 Deficiency	Severe Combined Immunodeficiency, Atypical
Immunodeficiency, Type 48	Zap70 Deficiency

Posterior Uveitis

Uveitis, Posterior	Choroiditis
Uveitis Posterior

Arthritis

Inflammatory Joint Disease

Inflammatory Disorder Of Joint

Panuveitis

Diffuse Uveitis	Total Uveitis
Inflammation Of The Whole Uveal Tract

Spondyloarthropathy

Spondylarthropathies	Spondarthropathy
Spondylarthrosis	Spondyloarthropathy, Susceptibility To
Spondylarthritis

Spondyloarthropathy 1

Ankylosing Spondylitis	Spondyloarthropathy, Susceptibility To, 1
SPDA1	Marie-Strumpell Spondylitis
Bechterew Syndrome	Spa
Spondylarthritis Ankylopoietica	Reiter Syndrome
Ankylosing Spondylitis, Susceptibility To	Bekhterev Syndrome
Bekhterev'S Disease	Marie-Strumpell Disease
Axial Spondylarthritis	Bechterew Disease
Marie-Struempell Disease	Spondylitis Ankylopoietica
Spondyloarthritis	Spondyloarthritis Ankylopoietica
Spas	Ankylosing Spondylarthritis
Psoriatic Arthritis	Reactive Arthritis
Rheumatoid Spondylitis	Spondylitis Ankylosans
Spondylitis Ankylosing	Spondylitis, Ankylosing
Spondylarthropathies	Arthritis, Psoriatic
Arthritis, Reactive

Anterior Uveitis

Iridocyclitis	Uveitis, Anterior
Acute Anterior Uveitis	Uveokeratitis
Keratouveitis	Cyclitis
Intraocular Inflammation	Kerato-Uveitis
Keratoiritis	Iritis
Uveitis Nos	Uveal Inflammation
Anterior Chamber Cell

Behcet Syndrome

Behcet Disease	Behcet'S Syndrome
Behcet'S Disease	Behçet Disease
Bd	Adamantiades-Behcet Disease
Triple Symptom Complex	Behçet'S Disease
Behet'S Syndrome	Bd Syndrome
Behçet Syndrome	Behçet'S Syndrome
Behcet Triple Symptom Complex	Malignant Aphthosis
Old Silk Route Disease	Adamantiades-Behçet Disease

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-150504	ERAP2-IN-1		98.86%	否
HY-139907	DG013A		/	否
HY-RS04464	ERAP2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

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