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  2. HLA-DQB2 - major histocompatibility complex, class II, DQ beta 2 Gene

HLA-DQB2 - major histocompatibility complex, class II, DQ beta 2 Gene

中文名称:主要组织相容性复合体,II 类,DQ beta 2

种属: Homo sapiens

同用名: DQB2; HLA-DXB; HLA-DQB1

基因 ID: 3120 | 基因类型: protein coding

关于 HLA-DQB2

Cytogenetic location: 6p21.32 Genomic coordinates (GRCh38): 6:32,756,098-32,763,532 (from NCBI)

This gene has 4 transcripts (splice variants), 1 gene allele, 118 orthologues and 13 paralogues. Biased expression in skin (RPKM 22.8), lung (RPKM 10.9) and 4 other tissues.

功能概要

HLA-DQB2 属于 HLA II 类 β 链旁系同源物家族。 II 类分子是由 alpha (DQA) 和 beta 链 (DQB) 组成的异二聚体,两者都锚定在膜中。它们通过呈递源自细胞外蛋白的肽在免疫系统中发挥核心作用。 II 类分子在抗原呈递细胞 (APC:B 淋巴细胞、树突细胞、巨噬细胞) 中表达。 alpha 和 beta 链中的多态性指定了肽结合特异性,并且对这些多态性进行分型通常用于骨髓移植。然而,这个基因,HLA-DQB2,并没有被常规分型,因为它被认为对移植没有影响。 HLA-DQB2 的蛋白质编码能力在文献和公共序列数据库中存在相互矛盾的证据。因为有转录证据和完整的 ORF,HLA-DQB2 在 Entrez Gene 和 RefSeq 中表示为蛋白质编码位点。[RefSeq 提供,2010 年 10 月]

HLA-DQB2 belongs to the family of HLA class II beta chain paralogs. Class II molecules are heterodimers consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. They play a central role in the immune system by presenting Peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). Polymorphisms in the alpha and beta chains specify the peptide binding specificity, and typing for these polymorphisms is routinely done for bone marrow transplantation. However this gene, HLA-DQB2, is not routinely typed, as it is not thought to have an effect on transplantation. There is conflicting evidence in the literature and public sequence databases for the protein-coding capacity of HLA-DQB2. Because there is evidence of transcription and an intact ORF, HLA-DQB2 is represented in Entrez Gene and in RefSeq as a protein-coding locus. [provided by RefSeq, Oct 2010]

HLA-DQB2 基因产物(2)

mRNA Protein Name
NM_001198858.2 NP_001185787.1 HLA class II histocompatibility antigen, DQ beta 2 chain isoform 2 precursor
NM_001300790.2 NP_001287719.1 HLA class II histocompatibility antigen, DQ beta 2 chain isoform 1 precursor

HLA-DQB2 蛋白结构

MHC_II_beta

MHC_II_beta: Class II histocompatibility antigen, beta domain (42 - 112)

C1-set

C1-set: Immunoglobulin C1-set domain (131 - 212)

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

HLA class II histocompatibility antigen, DQ beta 2 chain

DV19.1 (major histocompatibility complex, class II, DQ beta 2 (HLA-DXB))

关联疾病

疾病名称 别名
Kawasaki Disease

Mucocutaneous Lymph Node Syndrome

Acute Febrile Mucocutaneous Lymph Node Syndrome

Kawasaki Syndrome

Kd

Infantile Polyarteritis

Kawasaki Disease, Susceptibility To

Acute Febrile Mcls

Kawasaki'S Disease

Mlns

KWD

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-DQB2 MGD MGI:103070