HLA-DMA (major histocompatibility complex, class II, DM alpha)

基因基本信息

基因基本信息

symbol:
HLA-DMA
locus group:
protein-coding gene
location:
6p21.32
gene_family:
Histocompatibility complex|C1-set domain containing
alias symbol:
D6S222E|RING6
alias name:
None
entrez id:
3108
ensembl gene id:
ENSG00000204257
ucsc gene id:
uc003ocm.3
refseq accession:
NM_006120
hgnc_id:
HGNC:4934
approved reserved:
1991-12-18

基因染色体位置

基因染色体位置

6p21.32
基因染色体位置图

基因简述

基因简述

HLA-DMA（人类白细胞抗原-DMα）属于主要组织相容性复合体（MHC）II类基因家族，该家族在免疫系统中负责抗原呈递。HLA-DMA编码的蛋白质与HLA-DMB共同形成HLA-DM异二聚体，主要位于抗原呈递细胞（如树突细胞、B细胞和巨噬细胞）的内体区室中。HLA-DM的核心功能是作为分子伴侣，催化MHC II类分子与抗原肽的交换过程。它通过促进不稳定的CLIP肽（来自恒定链的肽段）从MHC II类分子的结合槽中释放，并帮助抗原肽更稳定地结合，从而确保外源抗原能有效呈递给CD4+ T细胞，激活适应性免疫应答。若HLA-DMA发生功能缺失突变，会导致抗原呈递缺陷，CLIP肽无法有效移除，使得MHC II类分子不能正常装载抗原肽，最终引发免疫应答减弱或自身免疫性疾病风险增加，如某些类型的免疫缺陷或类风湿性关节炎。HLA-DMA过表达可能增强抗原呈递效率，但过度激活免疫反应也可能导致自身免疫疾病或炎症反应加剧；而表达降低则可能削弱免疫监视功能，增加感染或肿瘤风险。HLA-DMA所在的MHC II类基因家族成员均参与抗原处理与呈递，具有高度多态性，其蛋白结构均包含α和β链形成的肽结合槽。该基因的调控异常与多种感染性疾病、自身免疫病及癌症的免疫逃逸密切相关，是免疫治疗研究的重要靶点之一。

HLA-DMA belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta chain (DMB), both anchored in the membrane. It is located in intracellular vesicles. DM 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 (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. [provided by RefSeq, Jul 2008]

HLA-DMA属于HLA II类α链旁系同源基??因。此Ⅱ类分子是选自由α（DMA）和一个β链（DMB）的异源二聚体，在膜中两个锚定的。它坐落在细胞内的囊泡。 DM通过帮助释放从肽结合位点的剪辑分子II分子起着MHC II类的肽装载中心作用。 （：B淋巴细胞，树突细胞，巨噬细胞，APC）II类分子在抗原呈递细胞中表达。的α链是约33-35 kDa和其基因含有5个外显子。外显子1编码前导肽，外显子2和3编码的两个细胞外结构域，外显子4编码的跨膜结构域和胞质尾区。 [由RefSeq的，2008年7月提供]

OMIM数据库中对HLA-DMA基因的介绍     Wikipedia数据库中对HLA-DMA基因的介绍

基因序列

基因序列

HLA-DMA基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

HLA-DMA基因的碱基突变：           仅显示部分snp
rs10679       rs10679       rs10679       rs10679       rs10679       rs10679       rs10679       rs129654       rs129654       rs129654       rs129654       rs129654       rs129654       rs129654       rs150358       rs150358       rs150358      

基因表达

基因表达

HLA-DMA基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
CTCAGGTGACTGATTCTTCC
58
GTGAGAAATCTGAGCATCCTC
59
GAGATAAGGGTTTCCTATCGCT
60
TGGGTGGGAAGAGATTACTG
59
TTCTGCGAGTGGATGATCC
60
TTCAGCGATAGGAAACCCTC
60
GAAATGTCTGGATACAGCTCC
59
ATCCTGGCAGTACACTGTG
59
TTGCTCAGACTGATTCTTCCA
60
GTGAGAAATCTGAGCATCCTC
59
AATTGCCTATTGGGTACCC
57
TGATGAGAACAATGCCCAC
58
GAAATGTCTGGATACAGCTCC
59
ATCCTGGCAGTACACTGTG
59
GAACAGAACCAAGGAGCTG
59
ATAGGAAACCCTTCAGGGAC
59
TTCTGCGAGTGGATGATCC
60
TTCAGCGATAGGAAACCCTC
60
ATGAACAGAACCAAGGAGCT
59
GAGTAGGAGCTTCAGGGAC
59

转录因子

转录因子

转录因子
影响基因
影响类型
参考文献链接（PubMed）
CIITA
HLA-DMA
Activation
9300700
CIITA
HLA-DMA
Unknown
7495736
RFX5
HLA-DMA
Unknown
11258423; 7495736
RFXANK
HLA-DMA
Unknown
11258423
RFXAP
HLA-DMA
Unknown
11258423

基因本体信息

HLA-DMA基因（以及对应的蛋白质）的细胞分布位置：

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 质膜
  • 细胞质
  • 细胞外
  • 高尔基体
  • 囊泡
  • 细胞骨架
  • 内质网
  • 细胞核
  • 内体
  • 溶酶体
  • 线粒体

HLA-DMA基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0006955
A0A140T985 (UniProtKB)
IEA
GO:0019882
A0A140T985 (UniProtKB)
IEA
GO:0042613
A0A140T985 (UniProtKB)
IEA
GO:0006955
A0A140T995 (UniProtKB)
IEA
GO:0019882
A0A140T995 (UniProtKB)
IEA
GO:0042613
A0A140T995 (UniProtKB)
IEA
GO:0006955
A0A140T9C7 (UniProtKB)
IEA
GO:0019882
A0A140T9C7 (UniProtKB)
IEA
GO:0042613
A0A140T9C7 (UniProtKB)
IEA
GO:0006955
A0A140T9D1 (UniProtKB)
IEA
GO:0019882
A0A140T9D1 (UniProtKB)
IEA
GO:0042613
A0A140T9D1 (UniProtKB)
IEA
GO:0006955
A0A140T9E7 (UniProtKB)
IEA
GO:0019882
A0A140T9E7 (UniProtKB)
IEA
GO:0042613
A0A140T9E7 (UniProtKB)
IEA
GO:0006955
A0A140T9G2 (UniProtKB)
IEA
GO:0019882
A0A140T9G2 (UniProtKB)
IEA
GO:0042613
A0A140T9G2 (UniProtKB)
IEA
GO:0006955
A0A140T9H8 (UniProtKB)
IEA
GO:0019882
A0A140T9H8 (UniProtKB)
IEA
GO:0042613
A0A140T9H8 (UniProtKB)
IEA
GO:0006955
A0A140T9K8 (UniProtKB)
IEA
GO:0019882
A0A140T9K8 (UniProtKB)
IEA
GO:0042613
A0A140T9K8 (UniProtKB)
IEA
GO:0006955
A0A140T9N2 (UniProtKB)
IEA
GO:0019882
A0A140T9N2 (UniProtKB)
IEA
GO:0042613
A0A140T9N2 (UniProtKB)
IEA
GO:0006955
A0A140T9N4 (UniProtKB)
IEA
GO:0019882
A0A140T9N4 (UniProtKB)
IEA
GO:0042613
A0A140T9N4 (UniProtKB)
IEA
GO:0006955
A0A140T9N7 (UniProtKB)
IEA
GO:0019882
A0A140T9N7 (UniProtKB)
IEA
GO:0042613
A0A140T9N7 (UniProtKB)
IEA
GO:0006955
A0A140T9N9 (UniProtKB)
IEA
GO:0019882
A0A140T9N9 (UniProtKB)
IEA
GO:0042613
A0A140T9N9 (UniProtKB)
IEA
GO:0006955
A0A140T9T2 (UniProtKB)
IEA
GO:0019882
A0A140T9T2 (UniProtKB)
IEA
GO:0042613
A0A140T9T2 (UniProtKB)
IEA
GO:0006955
A0A140T9T3 (UniProtKB)
IEA
GO:0019882
A0A140T9T3 (UniProtKB)
IEA
GO:0042613
A0A140T9T3 (UniProtKB)
IEA
GO:0006955
A0A140T9V7 (UniProtKB)
IEA
GO:0019882
A0A140T9V7 (UniProtKB)
IEA
GO:0042613
A0A140T9V7 (UniProtKB)
IEA
GO:0006955
A0A140T9X4 (UniProtKB)
IEA
GO:0019882
A0A140T9X4 (UniProtKB)
IEA
GO:0042613
A0A140T9X4 (UniProtKB)
IEA
GO:0016021
A2AAT8 (UniProtKB)
IEA
GO:0002504
F6S093 (UniProtKB)
IEA
GO:0006955
F6S093 (UniProtKB)
IEA
GO:0016021
F6S093 (UniProtKB)
IEA
GO:0042613
F6S093 (UniProtKB)
IEA
GO:0002504
H0Y732 (UniProtKB)
IEA
GO:0006955
H0Y732 (UniProtKB)
IEA
GO:0016021
H0Y732 (UniProtKB)
IEA
GO:0042613
H0Y732 (UniProtKB)
IEA
GO:0002503
P28067 (UniProtKB)
IDA
GO:0002503
P28067 (UniProtKB)
IDA
GO:0005765
P28067 (UniProtKB)
TAS
GO:0005765
P28067 (UniProtKB)
TAS
GO:0006955
P28067 (UniProtKB)
IEA
GO:0009986
P28067 (UniProtKB)
IDA
GO:0016020
P28067 (UniProtKB)
IDA
GO:0016021
P28067 (UniProtKB)
IEA
GO:0019886
P28067 (UniProtKB)
TAS
GO:0023026
P28067 (UniProtKB)
IDA
GO:0031902
P28067 (UniProtKB)
IEA
GO:0042613
P28067 (UniProtKB)
IDA
GO:0042613
P28067 (UniProtKB)
IDA
GO:0042613
P28067 (UniProtKB)
IDA
GO:0070062
P28067 (UniProtKB)
IDA
GO:0002504
Q5SP00 (UniProtKB)
IEA
GO:0006955
Q5SP00 (UniProtKB)
IEA
GO:0016021
Q5SP00 (UniProtKB)
IEA
GO:0042613
Q5SP00 (UniProtKB)
IEA

基因相关microRNA

基因相关microRNA

可能调控 HLA-DMA基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

Reactome

MINT

BioGrid

IntAct

mentha

String

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称

基因通路

基因通路

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Contact Dermatitis 0.122367032 1 0 CTD_human_GAD
Dermatitis, Occupational 0.12 1 0 CTD_human
Lupus Erythematosus, Systemic 0.010911214 5 0 BeFree_GAD_LHGDN
Rheumatoid Arthritis 0.004810009 9 0 BeFree_GAD
Multiple Sclerosis 0.004734064 2 0 GAD
HIV Infections 0.002638474 1 0 BeFree_GAD
Acquired Immunodeficiency Syndrome 0.002367032 1 0 GAD
IGA Glomerulonephritis 0.002367032 1 0 GAD
Antiphospholipid Syndrome 0.002367032 1 0 GAD
Condylomata Acuminata 0.002367032 1 0 GAD

基因相关服务

基因相关服务

联系方式

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