B2M (beta-2-microglobulin)

基因基本信息

基因基本信息

symbol:
B2M
locus group:
protein-coding gene
location:
15q21.1
gene_family:
C1-set domain containing
alias symbol:
None
alias name:
None
entrez id:
567
ensembl gene id:
ENSG00000166710
ucsc gene id:
uc001zuc.4
refseq accession:
NM_004048
hgnc_id:
HGNC:914
approved reserved:
2001-06-22

基因染色体位置

基因染色体位置

15q21.1
基因染色体位置图

基因简述

基因简述

B2M（β-2微球蛋白）是一种由B2M基因编码的小分子蛋白质，属于主要组织相容性复合体（MHC）I类分子的轻链组成部分。它在几乎所有有核细胞的表面表达，并与MHC I类重链结合形成复合物，参与抗原呈递过程，帮助免疫系统识别和清除异常细胞（如病毒感染或癌细胞）。B2M的生物学功能主要涉及免疫调节，特别是在T细胞介导的免疫应答中起关键作用。B2M基因突变可能导致蛋白质结构或功能异常，进而影响MHC I类分子的组装和表达，引发免疫缺陷或自身免疫性疾病。例如，B2M基因突变与家族性肾小管间质肾病相关，患者可能出现肾功能衰竭。此外，B2M的过表达在某些癌症（如多发性骨髓瘤）中较为常见，可能与肿瘤免疫逃逸有关；而B2M表达降低则可能导致MHC I类分子表达缺失，使肿瘤细胞逃避免疫监视。B2M属于免疫球蛋白超家族（IgSF），该家族成员通常具有免疫球蛋白样结构域，参与细胞间识别和信号传导。B2M在血液和尿液中可作为生物标志物，其水平升高可能与炎症、感染或某些恶性肿瘤相关。研究还发现，B2M与阿尔茨海默病的发病机制有关，可能通过促进淀粉样蛋白沉积加剧神经退行性病变。

This gene encodes a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells. The protein has a predominantly beta-pleated sheet structure that can form amyloid fibrils in some pathological conditions. The encoded antimicrobial protein displays antibacterial activity in amniotic fluid. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia.[provided by RefSeq, Aug 2014]

该基因编码在发现与主要组织相容性复合体（MHC）I类重链几乎所有有核细胞的表面上的血清蛋白。该蛋白质具有主要的β-折叠片结构可以形成在某些病理条件下淀粉样蛋白原纤维。所编码的抗微生物蛋白显示在羊水的抗菌活性。在这个基因的突变已显示导致hypercatabolic低蛋白血症。[通过的RefSeq，2014年8月提供]

OMIM数据库中对B2M基因的介绍     Wikipedia数据库中对B2M基因的介绍

基因序列

基因序列

B2M基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

B2M基因的碱基突变：           仅显示部分snp
rs4780       rs4780       rs7151       rs7151       rs1054230       rs1054230       rs1669854       rs1669854       rs1669855       rs1669855       rs1690313       rs1690313       rs1869125       rs1869125       rs1901529       rs1901529       rs1901530      

基因表达

基因表达

B2M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
AAAGATGAGTATGCCTGCC
58
TCTTCAAACCTCCATGATGC
58
AGTTGGGAGTTTGAAGATGC
59
TCAAACATGGAGACAGCAC
58
GAGGCTATCCAGCGTACTC
60
TGAAACCCAGACACATAGCA
59
GAGGCTATCCAGCGTACTC
60
TGAAACCCAGACACATAGCA
59
CTGTCCTAGCATCCTATAATCC
57
TCAGATACCAATCCAGCCA
58
GGTCTTTCTATCTCTTGTACTACAC
58
CTTACATGTCTCGATCCCAC
57
GAGGCTATCCAGCGTACTC
60
TGAAACCCAGACACATAGCA
59
TGCCAGCCTTATTTCTAACC
58
TCTTCAAACCTCCATGATGC
58
ATTTGCCATAGTCCTCACCT
59
CTTAAATGGTTGAGTTGGACCC
60
GAGGCTATCCAGCGTACTC
60
AAGACAAGTCTGAATGCTCCA
60

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）
NFKB1
B2M
Activation
12480693
USF1
B2M
Activation
12480693
USF2
B2M
Activation
12480693

基因本体信息

B2M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

B2M基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0002474
F5H6I0 (UniProtKB)
IEA
GO:0005576
F5H6I0 (UniProtKB)
IEA
GO:0006955
F5H6I0 (UniProtKB)
IEA
GO:0042612
F5H6I0 (UniProtKB)
IEA
GO:0002474
H0YLF3 (UniProtKB)
IEA
GO:0005576
H0YLF3 (UniProtKB)
IEA
GO:0006955
H0YLF3 (UniProtKB)
IEA
GO:0042612
H0YLF3 (UniProtKB)
IEA
GO:0000139
P61769 (UniProtKB)
TAS
GO:0000139
P61769 (UniProtKB)
TAS
GO:0000139
P61769 (UniProtKB)
TAS
GO:0000139
P61769 (UniProtKB)
TAS
GO:0000139
P61769 (UniProtKB)
TAS
GO:0001895
P61769 (UniProtKB)
IEP
GO:0001916
P61769 (UniProtKB)
IEA
GO:0001948
P61769 (UniProtKB)
IPI
GO:0001948
P61769 (UniProtKB)
IPI
GO:0001948
P61769 (UniProtKB)
IPI
GO:0002474
P61769 (UniProtKB)
TAS
GO:0002479
P61769 (UniProtKB)
TAS
GO:0002480
P61769 (UniProtKB)
TAS
GO:0002481
P61769 (UniProtKB)
IEA
GO:0002726
P61769 (UniProtKB)
IDA
GO:0003254
P61769 (UniProtKB)
IDA
GO:0005515
P61769 (UniProtKB)
IPI
GO:0005515
P61769 (UniProtKB)
IPI
GO:0005515
P61769 (UniProtKB)
IPI
GO:0005515
P61769 (UniProtKB)
IPI
GO:0005515
P61769 (UniProtKB)
IPI
GO:0005515
P61769 (UniProtKB)
IPI
GO:0005515
P61769 (UniProtKB)
IPI
GO:0005515
P61769 (UniProtKB)
IPI
GO:0005576
P61769 (UniProtKB)
TAS
GO:0005615
P61769 (UniProtKB)
IDA
GO:0005615
P61769 (UniProtKB)
IDA
GO:0005737
P61769 (UniProtKB)
IDA
GO:0005788
P61769 (UniProtKB)
TAS
GO:0005788
P61769 (UniProtKB)
TAS
GO:0005788
P61769 (UniProtKB)
TAS
GO:0005788
P61769 (UniProtKB)
TAS
GO:0005788
P61769 (UniProtKB)
TAS
GO:0005788
P61769 (UniProtKB)
TAS
GO:0005788
P61769 (UniProtKB)
TAS
GO:0005788
P61769 (UniProtKB)
TAS
GO:0005794
P61769 (UniProtKB)
IDA
GO:0005886
P61769 (UniProtKB)
IDA
GO:0005886
P61769 (UniProtKB)
TAS
GO:0005886
P61769 (UniProtKB)
TAS
GO:0005886
P61769 (UniProtKB)
TAS
GO:0005886
P61769 (UniProtKB)
TAS
GO:0005886
P61769 (UniProtKB)
TAS
GO:0005886
P61769 (UniProtKB)
TAS
GO:0005886
P61769 (UniProtKB)
TAS
GO:0005886
P61769 (UniProtKB)
TAS
GO:0005886
P61769 (UniProtKB)
TAS
GO:0005886
P61769 (UniProtKB)
TAS
GO:0005886
P61769 (UniProtKB)
TAS
GO:0005886
P61769 (UniProtKB)
TAS
GO:0005886
P61769 (UniProtKB)
TAS
GO:0005886
P61769 (UniProtKB)
TAS
GO:0005886
P61769 (UniProtKB)
TAS
GO:0005886
P61769 (UniProtKB)
TAS
GO:0005886
P61769 (UniProtKB)
TAS
GO:0005886
P61769 (UniProtKB)
TAS
GO:0005886
P61769 (UniProtKB)
TAS
GO:0005886
P61769 (UniProtKB)
TAS
GO:0005886
P61769 (UniProtKB)
TAS
GO:0005886
P61769 (UniProtKB)
TAS
GO:0005886
P61769 (UniProtKB)
TAS
GO:0005886
P61769 (UniProtKB)
TAS
GO:0005886
P61769 (UniProtKB)
TAS
GO:0005886
P61769 (UniProtKB)
TAS
GO:0005886
P61769 (UniProtKB)
TAS
GO:0005886
P61769 (UniProtKB)
TAS
GO:0005886
P61769 (UniProtKB)
TAS
GO:0005886
P61769 (UniProtKB)
TAS
GO:0005886
P61769 (UniProtKB)
TAS
GO:0005925
P61769 (UniProtKB)
IDA
GO:0009897
P61769 (UniProtKB)
IEA
GO:0010977
P61769 (UniProtKB)
IEA
GO:0012507
P61769 (UniProtKB)
TAS
GO:0012507
P61769 (UniProtKB)
TAS
GO:0012507
P61769 (UniProtKB)
TAS
GO:0016020
P61769 (UniProtKB)
IDA
GO:0019731
P61769 (UniProtKB)
IDA
GO:0019885
P61769 (UniProtKB)
IGI
GO:0030670
P61769 (UniProtKB)
TAS
GO:0031901
P61769 (UniProtKB)
TAS
GO:0031901
P61769 (UniProtKB)
TAS
GO:0031905
P61769 (UniProtKB)
TAS
GO:0031905
P61769 (UniProtKB)
TAS
GO:0031905
P61769 (UniProtKB)
TAS
GO:0032092
P61769 (UniProtKB)
IGI
GO:0033077
P61769 (UniProtKB)
IEA
GO:0042026
P61769 (UniProtKB)
IEA
GO:0042493
P61769 (UniProtKB)
IEA
GO:0042612
P61769 (UniProtKB)
IEA
GO:0042802
P61769 (UniProtKB)
IPI
GO:0042802
P61769 (UniProtKB)
IPI
GO:0042802
P61769 (UniProtKB)
IPI
GO:0044267
P61769 (UniProtKB)
TAS
GO:0045087
P61769 (UniProtKB)
IDA
GO:0045087
P61769 (UniProtKB)
TAS
GO:0046686
P61769 (UniProtKB)
IEA
GO:0048260
P61769 (UniProtKB)
IGI
GO:0050690
P61769 (UniProtKB)
TAS
GO:0050776
P61769 (UniProtKB)
TAS
GO:0050829
P61769 (UniProtKB)
IDA
GO:0050830
P61769 (UniProtKB)
IDA
GO:0055072
P61769 (UniProtKB)
IC
GO:0060333
P61769 (UniProtKB)
TAS
GO:0070062
P61769 (UniProtKB)
IDA
GO:0070062
P61769 (UniProtKB)
IDA
GO:0070062
P61769 (UniProtKB)
IDA
GO:0070062
P61769 (UniProtKB)
IDA
GO:0071222
P61769 (UniProtKB)
IDA
GO:0071281
P61769 (UniProtKB)
IGI
GO:1900121
P61769 (UniProtKB)
IDA
GO:1900122
P61769 (UniProtKB)
IGI
GO:1903991
P61769 (UniProtKB)
IGI
GO:1904434
P61769 (UniProtKB)
IGI
GO:1904437
P61769 (UniProtKB)
IGI
GO:1990712
P61769 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 B2M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
Hypoproteinemia, Hypercatabolic 0.360271442 1 1 BeFree_CLINVAR_CTD_human_UNIPROT
Acute kidney injury 0.2 3 0 CTD_human_RGD
Prostatic Neoplasms 0.12272435 2 0 CTD_human_LHGDN
Diffuse Large B-Cell Lymphoma 0.120542884 3 0 BeFree_CTD_human
Kidney Diseases 0.120542884 5 0 BeFree_CTD_human
Autoimmune Diseases 0.120271442 2 0 BeFree_CTD_human
Hypergammaglobulinemia 0.12 1 0 CTD_human
Squamous cell carcinoma of esophagus 0.12 1 0 CTD_human
Peripheral T-Cell Lymphoma 0.12 1 0 CTD_human
Heart Diseases 0.12 1 0 CTD_human

基因相关服务

基因相关服务

联系方式

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