1. Gene
  2. HLA-DQA2 - major histocompatibility complex, class II, DQ alpha 2 Gene

HLA-DQA2 - major histocompatibility complex, class II, DQ alpha 2 Gene

中文名称:主要组织相容性复合体,II 类,DQ alpha 2

种属: Homo sapiens

同用名: DQA1; HLA-DCA; HLA-DXA; HLADQA2; DC-alpha; DX-ALPHA

基因 ID: 3118 | 基因类型: protein coding

关于 HLA-DQA2

Cytogenetic location: 6p21.32 Genomic coordinates (GRCh38): 6:32,741,391-32,747,198 (from NCBI)

This gene has 1 transcript (splice variant), 1 gene allele, 542 orthologues, 13 paralogues and is associated with 1 phenotype. Broad expression in lymph node (RPKM 32.9), spleen (RPKM 26.8) and 20 other tissues.

功能概要

该基因属于 HLA II 类α链家族。编码的蛋白质与 II 类 β 链形成异二聚体。它位于细胞内囊泡中,通过帮助从肽结合位点释放 CLIP 分子,在 MHC II 类分子的肽加载中起着核心作用。 II 类分子在抗原呈递细胞 (B 淋巴细胞、树突状细胞、巨噬细胞) 中表达,用于在细胞表面呈递抗原肽以被 CD4 T 细胞识别。[RefSeq 提供,2010 年 6 月]

This gene belongs to the HLA class II alpha chain family. The encoded protein forms a heterodimer with a class II beta chain. It is located in intracellular vesicles and plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (B lymphocytes, dendritic cells, macrophages) and are used to present antigenic Peptides on the cell surface to be recognized by CD4 T-cells. [provided by RefSeq, Jun 2010]

HLA-DQA2 基因产物(1)

mRNA Protein Name
NM_020056.5 NP_064440.1 HLA class II histocompatibility antigen, DQ alpha 2 chain precursor
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 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

HLA-DQA2 蛋白结构

MHC_II_alpha

MHC_II_alpha: Class II histocompatibility antigen, alpha domain (29 - 110)

C1-set

C1-set: Immunoglobulin C1-set domain (122 - 200)

  • 0
  • 100
  • 200
  • 255 a.a.
蛋白主名 其他名称

HLA class II histocompatibility antigen, DQ alpha 2 chain

DC-1 alpha chain

关联疾病

疾病名称 别名
Penis Carcinoma In Situ

Carcinoma In Situ Of Penis

Bowen'S Disease Of Penis

Grade Iii Squamous Intraepithelial Lesion Of Penis

Penile Intraepithelial Neoplasia Grade Iii

Queyrat'S Erythroplasia

Erythroplasia Of Queyrat

Pin - [Penile Intraepithelial Neoplasia]

Podoconiosis

PDCOS

Podoconiosis, Susceptibility To

Nonfilarial Elephantiasis Of Lower Legs

Nonfilarial Elephantiasis Of Lower Legs, Susceptibility To

Endemic Nonfilarial Elephantiasis

Endemic Nonfilarial Elephantiasis, Susceptibility To

Lymphostatic Verrucosis

Lymphostatic Verrucosis, Susceptibility To

Elephantiasis

Endemic Non-Filarial Elephantiasis

Narcolepsy

Paroxysmal Sleep

Gelineau Syndrome

Narcoleptic Syndrome

Narcolepsy-Cataplexy Syndrome

Cataplexy And Narcolepsy

Narcolepsy, Without Cataplexy

Gelineau'S Syndrome

Narcolepsy With Or Without Cataplexy

Narcolepsy Nos

Type 1 Diabetes Mellitus 12

Diabetes Mellitus, Insulin-Dependent, 12

IDDM12

Insulin-Dependent Diabetes Mellitus 12

T1D12

Type 1 Diabetes Mellitus 12, Susceptibility To

Diabetes Mellitus, Insulin-Dependent, Type 12

Celiac Disease 1

Celiac Disease

Coeliac Disease

Celiac Sprue

Celiac Disease, Susceptibility To

Gluten-Sensitive Enteropathy

Nontropical Sprue

Sprue

CELIAC1

Celiac Disease, Susceptibility To, 1

Celiac Sprue 1

Celiac Sprue, Susceptibility To, 1

Gluten-Sensitive Enteropathy 1

Gluten-Sensitive Enteropathy, Susceptibility To, 1

Idiopathic Steatorrhea

Cœliac Disease

Gluten Intolerance

Gluten-Induced Enteropathy

Gluten Enteropathy

Celiac Disease, Susceptibility To, Type 1

Childhood Celiac Disease

Coeliac Rickets

Gee Disease

Gee-Herter Disease

Heubner-Herter Disease

Idiopathic Steatorrhoea

Thaysen'S Disease

Herter Gee Syndrome

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]

Gastroduodenal Crohn'S Disease

Upper Gi Crohn'S Disease

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
Mus musculus HLA-DQA2 MGD MGI:95895