1. Gene
  2. TAP2 - transporter 2, ATP binding cassette subfamily B member Gene

TAP2 - transporter 2, ATP binding cassette subfamily B member Gene

中文名称:转运蛋白 2,ATP 结合盒亚家族 B 成员

种属: Homo sapiens

同用名: APT2; PSF2; ABC18; ABCB3; PSF-2; RING11; D6S217E

基因 ID: 6891 | 基因类型: protein coding

关于 TAP2

Cytogenetic location: 6p21.32 Genomic coordinates (GRCh38): 6:32,821,831-32,838,739 (from NCBI)

This gene has 9 transcripts (splice variants), 1 gene allele, 159 orthologues, 10 paralogues and is associated with 2 phenotypes. Ubiquitous expression in appendix (RPKM 22.8), lymph node (RPKM 22.1) and 24 other tissues.

功能概要

由该基因编码的膜相关蛋白是 ATP 结合盒 (ABC) 转运蛋白超家族的成员。 ABC 蛋白可跨细胞外膜和细胞内膜转运各种分子。 ABC 基因分为七个不同的亚家族 (ABC1、MDR/TAP、MRP、ALD、OABP、GCN20、White) 。该蛋白是 MDR/TAP 亚家族的成员。 MDR/TAP 亚家族的成员参与了多药耐药性。该基因位于基因家族成员 ABCB2 的 7 kb 端粒处。该基因编码的蛋白质参与抗原呈递。该蛋白质与 ABCB2 形成异二聚体,以便将肽从细胞质转运至内质网。该基因的突变可能与强直性脊柱炎、胰岛素依赖型糖尿病和乳糜泻有关。该基因的选择性剪接产生的产物在肽选择性和 MHC I 类分子表面表达的恢复水平方面存在差异。[RefSeq 提供,2014 年 2 月]

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. This gene is located 7 kb telomeric to gene family member ABCB2. The protein encoded by this gene is involved in antigen presentation. This protein forms a heterodimer with ABCB2 in order to transport Peptides from the cytoplasm to the endoplasmic reticulum. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Alternative splicing of this gene produces products which differ in peptide selectivity and level of restoration of surface expression of MHC class I molecules. [provided by RefSeq, Feb 2014]

TAP2 基因产物(3)

mRNA Protein Name
NM_000544.3 NP_000535.3 antigen peptide transporter 2 isoform 1
NM_001290043.2 NP_001276972.1 antigen peptide transporter 2 isoform 3
NM_018833.3 NP_061313.2 antigen peptide transporter 2 isoform 2
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 ABC-type peptide antigen transporter activity IDA
IDA: 通过直接分析推断
25377891 GOA
enables ABC-type peptide antigen transporter activity IMP
IMP: 通过突变表型推断
1538751 GOA
enables ATP binding IDA
IDA: 通过直接分析推断
7673167 GOA
enables ATP binding IMP
IMP: 通过突变表型推断
15793001 GOA
enables MHC class Ib protein binding IPI
IPI: 通过物理相互作用推断
10605026 GOA
enables TAP1 binding IPI
IPI: 通过物理相互作用推断
1538751 GOA
enables peptide antigen binding IDA
IDA: 通过直接分析推断
7500034 GOA
contributes to peptide transmembrane transporter activity IGI
IGI: 通过遗传相互作用推断
7673167 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9427624 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of MHC class I peptide loading complex IDA
IDA: 通过直接分析推断
17947644 GOA
part of TAP complex IDA
IDA: 通过直接分析推断
15518576 GOA
is active in endoplasmic reticulum IDA
IDA: 通过直接分析推断
22638925 GOA
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
7673167 GOA
located in membrane IDA
IDA: 通过直接分析推断
8955196 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

TAP2 蛋白结构

ABC_membrane

ABC_membrane: ABC transporter transmembrane region (153 - 416)

ABC_tran

ABC_tran: ABC transporter (486 - 635)

  • 0
  • 200
  • 400
  • 600
  • 686 a.a.
蛋白主名 其他名称

antigen peptide transporter 2

ABC transporter, MHC 2

TAP2 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
TAP2 Q03519 TAP1 Homo sapiens Q03518-2 12213826
种属内
TAP2 Q03519 TAP1 Homo sapiens Q03518 28514442
种属内
TAP2 Q03519 TAP1 Homo sapiens Q03518 16828748
种属内
TAP2 Q03519 TAP1 Homo sapiens Q03518 19201886
种属内
TAP2 Q03519 TAP1 Homo sapiens Q03518 17055437
种属内
TAP2 Q03519 TAP1 Homo sapiens Q03518 33961781
种属内
TAP2 Q03519 TAPBP Homo sapiens O15533 19201886
种属内
TAP2 Q03519 TAPBP Homo sapiens O15533 12213826
种属间
TAP2 Q03519 bnl2a_ebvb9 Epstein-Barr virus P0C739 19201886
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Bare Lymphocyte Syndrome, Type I

Hla Class I Deficiency

Mhc Class I Deficiency

Bls, Type I

Bare Lymphocyte Syndrome Type I

Bare Lymphocyte Syndrome, Type I, Due To Tap2 Deficiency

Blsi

Mhc Class 1 Deficiency

Major Histocompatibility Complex Class 1 Deficiency

Bare Lymphocyte Syndrome 1

BLS1

Bls I

Bls Type I

Bl-1

Bare Lymphocyte Syndrome Type 1

Immunodeficiency By Defective Expression Of Hla - [Human Leukocyte Antigen] Class 1

Scid - [Severe Combined Immunodeficiency] Due To Absent Class 2 Hla Antigens

Bls - [Bare Lymphocyte Syndrome] Nos

Immunodeficiency By Defective Expression Of Mhc Class I

Bare Lymphocyte Syndrome Type 1

Mhc Class I Deficiency

Spondylitis
Herpes Simplex

Herpes Simplex Infections

Herpesvirus Hominis Disease

Herpes Simplex Disease

Herpesviral Infection Due To Herpes Simplex

Infections Due To Simplex Virus

Herpes Nos

Bare Lymphocyte Syndrome, Type Ii

Mhc Class Ii Deficiency

Bare Lymphocyte Syndrome

Major Histocompatibility Complex Class Ii Deficiency

Bare Lymphocyte Syndrome 2

Bare Lymphocyte Syndrome Type 2

Severe Combined Immunodeficiency, Hla Class Ii-Negative

Bare Lymphocyte Syndrome, Type Ii, Complementation Group C

Bare Lymphocyte Syndrome, Type Ii, Complementation Group D

Bare Lymphocyte Syndrome Type Ii

Scid, Hla Class Ii-Negative

Bare Lymphocyte Syndrome, Type Ii, Complementation Group A

Bare Lymphocyte Syndrome, Type Ii, Complementation Group B

Scid Due To Absent Class Ii Hla Antigens

Hla Class 1 Deficiency

Scid, Hla Class 2-Negative

Bls Type Ii

Bare Lymphocyte Syndrome Type 2, Complementation Group A

Bare Lymphocyte Syndrome Type 2, Complementation Group E

Severe Combined Immunodeficiency

Bls, Type Ii

Bls

Bare Lymphocyte Syndrome, Type Ii, Complementation Group E

Blsii

Bls Type 1

Bls 2

Scid Due To Absence Of Class Ii Hla Antigens

Severe Combined Immunodeficiency Due To Absent Class Ii Human Leukocyte Antigens

Immunodeficiency By Defective Expression Of Mhc Class Ii

BLS2

Bare Lymphocyte Syndrome Type Ii Complementation Group A

Bare Lymphocyte Syndrome Type Ii Complementation Group B

Bare Lymphocyte Syndrome Type Ii Complementation Group C

Bare Lymphocyte Syndrome Type Ii Complementation Group D

Bare Lymphocyte Syndrome Type Ii Complementation Group E

Bls Ii

Hereditary Mhc Class Ii Deficiency

Hla Class Ii Deficient Combined Immunodeficiency

Mhc-Ii Deficiency

Scid Hla Class Ii-Negative

Severe Combined Immunodeficiency Hla Class Ii-Negative

Bl-2

Immunodeficiency By Defective Expression Of Hla Class 2

Hla Class 2-Negative Severe Combined Immunodeficiency

Echinococcosis

Hydatidosis

Echinococcal Disease

Echinococcosis Of Liver

Hepatic Echinococcosis

Hydatid Disease

Liver Echinococcus

Pulmonary Echinococcosis

Hydatids

Echinococcosis, Hepatic

Echinococcosis, Pulmonary

Unilocular Echinococcosis

Echinococcus Disease

Echinococcus Granulosus Infection

Echinococcus Multilocularis Infection

Dog Tapeworm Infection

Echinococcus Granulosus Infestation

Echinococciasis

Cystic Echinococcosis

Type 1 Diabetes Mellitus

Diabetes Mellitus, Insulin-Dependent

Diabetes Mellitus Type 1

IDDM

Type 1 Diabetes

Insulin-Dependent Diabetes Mellitus

T1D

Juvenile-Onset Diabetes

Jod

Diabetes Mellitus, Type 1

Diabetes Mellitus, Insulin-Dependent-1

Type I Diabetes Mellitus

Autoimmune Diabetes

Juvenile Diabetes

Juvenile-Onset Diabetes Mellitus

Diabetes, Insulin Dependent

Insulin-Dependent Diabetes Mellitus-1

Diabetes Mellitus Insulin-Dependent

Diabetes Autoimmune

Diabetes Mellitus, Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 1, Susceptibility To

Diabetes Type 1

Type I Diabetes

Diabetes, Autoimmune

T1dm - [Type 1 Diabetes Mellitus]

Iddm - [Insulin Dependent Diabetes Mellitus]

Type 1 Iddm

Juvenile Diabetes Mellitus Without Compications

Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications

Juvenile-Onset Diabetes Mellitus Without Compications

Ketosis-Prone Diabetes Mellitus Without Compications

Juvenile-Onset-Type Diabetes Mellitus Without Compications

Reactive Arthritis

Postdysenteric Arthropathy

Reiter Disease

Pira

Reiter Syndrome

Reiters Syndrome

Arthritis, Reactive

Fiessinger Leroy Reiter Syndrome

Post-Bacterial Arthropathy

Reiter'S Disease

Post-Infectious Arthritis

Post-Infectious Reactive Arthropathy

Reiter'S Syndrome

Arthritis Urethritica

Fiessinger-Leroy Disease

Polyarthritis Enterica

Venereal Arthritis

Arthritis Reactive

Post-Dysenteric Arthropathy

Arthritis, Venereal

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

Diabetes Mellitus

Diabetes

Joubert Syndrome 4

JBTS4

Joubert Syndrome With Renal Defect

Joubert Syndrome With Renal Anomalies

Js-R

Joubert Syndrome, Type 4

Severe Combined Immunodeficiency

Scid

Severe Combined Immunodeficiency Disease

Combined T And B Cell Inborn Immunodeficiency

Immunodeficiency, Severe Combined

Scid - [Severe Combined Immunodeficiencies]

Systemic Lupus Erythematosus

Lupus Nephritis

SLE

Disseminated Lupus Erythematosus

Systemic Lupus Erythematosus, Susceptibility To

Lupus Erythematosus, Systemic

Lupus Nephritis, Susceptibility To

Libman-Sacks Disease

Systemic Lupus Erythematosus Susceptibility To

Sle - Lupus Erythematosus, Systemic

Le Syndrome

Lupus

Lupus Erythematosus Systemic

Lupus Erythematosus, Systemic, Susceptibility To

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus

Systemic Lupus Erythematosus Nos

Sle - [Systemic Lupus Erythematosus]

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus TAP2 RGD RGD:3818
Mus musculus TAP2 MGD MGI:98484
Others TAP2 NCBI