SLC11A2 (solute carrier family 11 member 2)

基因基本信息

基因基本信息

symbol:
SLC11A2
locus group:
protein-coding gene
location:
12q13.12
gene_family:
Solute carriers
alias symbol:
DCT1|DMT1|DMT-1|FLJ37416
alias name:
Natural resistance-associated macr…
entrez id:
4891
ensembl gene id:
ENSG00000110911
ucsc gene id:
uc001rxi.4
refseq accession:
NM_000617
hgnc_id:
HGNC:10908
approved reserved:
1995-12-19

基因染色体位置

基因染色体位置

12q13.12
基因染色体位置图

基因简述

基因简述

SLC11A2（溶质载体家族11成员2，英文原名Solute Carrier Family 11 Member 2）是一种二价金属离子转运蛋白，属于SLC11/NRAMP基因家族。该家族成员具有高度保守的结构特征，主要功能是跨膜转运二价金属离子（如铁、锰、锌等），在维持体内金属离子稳态中起关键作用。SLC11A2基因编码的蛋白质（又称DMT1，二价金属转运体1）主要表达于十二指肠上皮细胞、红细胞前体细胞、肾脏和脑等组织，其核心功能是在肠道吸收膳食铁并将其转运至血液循环，同时参与细胞内铁循环和脑内铁代谢。该蛋白具有12个跨膜结构域，依赖质子梯度（H+共转运）驱动金属离子运输。SLC11A2基因突变可导致其功能异常，引发遗传性低色素性贫血（如microcytic anemia with iron deficiency 1，简称MKIA1），表现为铁吸收障碍、小细胞低色素性贫血和肝铁超载。突变类型包括错义突变（如G75R）、剪接位点突变等，这些突变会破坏蛋白质的离子结合位点或膜定位能力。该基因还与神经退行性疾病（如帕金森病）相关，因其参与脑内铁代谢调控，铁沉积异常可能促进氧化应激。当SLC11A2过表达时，可能导致组织铁超载（如肝脏和大脑），增加氧化损伤风险；而表达降低则引发缺铁性贫血和神经系统发育异常（如学习记忆障碍）。该基因受铁调节蛋白（IRP）和缺氧诱导因子（HIF）调控，与铁调素（hepcidin）通路相互作用。SLC11家族共性包括：均编码质子偶联的金属离子转运体，具有保守的跨膜拓扑结构，参与免疫防御（通过限制病原体获取必需金属）和能量代谢。目前中文术语"DMT1"存在争议，部分文献直译为"二价金属转运体1"，而"SLC11A2"为国际通用命名。

This gene encodes a member of the solute carrier family 11 protein family. The product of this gene transports divalent metals and is involved in iron absorption. Mutations in this gene are associated with hypochromic microcytic anemia with iron overload. A related solute carrier family 11 protein gene is located on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010]

该基因编码的溶质载体家族11蛋白质家族的一个成员。该基因的产物输送二价金属，并且参与铁吸收。在这种基因突变与铁过载低色素性贫血相关联。一个相关的溶质载体家族11蛋白基因位于染色体2.多个转录变异体编码不同亚型也发现了这种基因。[由RefSeq的，2010年4月提供]

OMIM数据库中对CCND1基因的介绍     Wikipedia数据库中对CCND1基因的介绍

基因序列

基因序列

CCND1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

SLC11A2基因的碱基突变：           仅显示部分snp
rs12480       rs15897       rs149411       rs150909       rs161044       rs161045       rs161046       rs161047       rs183425       rs183426       rs191187       rs192008       rs224446       rs224447       rs224448       rs224449       rs224450      

基因表达

基因表达

SLC11A2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
GCTTACAGCTTCCCTTTGC
59
GTCCATTGGCAAAGTCACTC
59
TGTCAGATGACAGTGTTTCTG
58
GAGAGGGATTACTATAGGCAGG
59
CTTTGCCAATGGACTAGGC
58
TAGGTCCCGGACATAAACC
58
TGCCAGATCTTTCTTGTTTGAC
59
ATGGTGGATACCTGAGTGG
58
CTTCTCTGAGCTCACTGCT
59
TGGGTTTCACTGTAACATACTC
58
ATGAGCATTGCCTACCTGG
59
CCAGAGCAACTTAAATCCAGC
59
AGGAGGAGAATAAGAGGCTG
58
TTCACCTCCATCTTACCCAC
59
TTTGCCAATGGACTAGGCT
59
CTAGGTCCCGGACATAAACC
59
TTCTCTGAGCTCACTGCTG
59
CTGGGTTTCACTGTAACATACTC
59
GCCAGATCTTTCTTGTTTGAC
57
CATGGTGGATACCTGAGTG
57

转录因子

转录因子

      尚未收录相关数据

基因本体信息

SLC11A2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

SLC11A2基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005215
F8VR36 (UniProtKB)
IEA
GO:0006810
F8VR36 (UniProtKB)
IEA
GO:0016021
F8VR36 (UniProtKB)
IEA
GO:0005215
F8VWB0 (UniProtKB)
IEA
GO:0006810
F8VWB0 (UniProtKB)
IEA
GO:0016021
F8VWB0 (UniProtKB)
IEA
GO:0005215
F8VZL6 (UniProtKB)
IEA
GO:0006810
F8VZL6 (UniProtKB)
IEA
GO:0016021
F8VZL6 (UniProtKB)
IEA
GO:0005215
F8W154 (UniProtKB)
IEA
GO:0006810
F8W154 (UniProtKB)
IEA
GO:0016021
F8W154 (UniProtKB)
IEA
GO:0005215
F8W1C0 (UniProtKB)
IEA
GO:0006810
F8W1C0 (UniProtKB)
IEA
GO:0016021
F8W1C0 (UniProtKB)
IEA
GO:0005215
F8W1F2 (UniProtKB)
IEA
GO:0006810
F8W1F2 (UniProtKB)
IEA
GO:0016021
F8W1F2 (UniProtKB)
IEA
GO:0005215
F8W1P7 (UniProtKB)
IEA
GO:0006810
F8W1P7 (UniProtKB)
IEA
GO:0016021
F8W1P7 (UniProtKB)
IEA
GO:0005215
H0YIV3 (UniProtKB)
IEA
GO:0006810
H0YIV3 (UniProtKB)
IEA
GO:0016021
H0YIV3 (UniProtKB)
IEA
GO:0001666
P49281 (UniProtKB)
IEP
GO:0001666
P49281 (UniProtKB)
IEP
GO:0003032
P49281 (UniProtKB)
IEP
GO:0005375
P49281 (UniProtKB)
IDA
GO:0005381
P49281 (UniProtKB)
TAS
GO:0005384
P49281 (UniProtKB)
IDA
GO:0005384
P49281 (UniProtKB)
IDA
GO:0005384
P49281 (UniProtKB)
IDA
GO:0005385
P49281 (UniProtKB)
IDA
GO:0005515
P49281 (UniProtKB)
IPI
GO:0005515
P49281 (UniProtKB)
IPI
GO:0005515
P49281 (UniProtKB)
IPI
GO:0005515
P49281 (UniProtKB)
IPI
GO:0005515
P49281 (UniProtKB)
IPI
GO:0005515
P49281 (UniProtKB)
IPI
GO:0005515
P49281 (UniProtKB)
IPI
GO:0005515
P49281 (UniProtKB)
IPI
GO:0005634
P49281 (UniProtKB)
IDA
GO:0005634
P49281 (UniProtKB)
IDA
GO:0005634
P49281 (UniProtKB)
IDA
GO:0005737
P49281 (UniProtKB)
IDA
GO:0005737
P49281 (UniProtKB)
IDA
GO:0005737
P49281 (UniProtKB)
IDA
GO:0005741
P49281 (UniProtKB)
IEA
GO:0005764
P49281 (UniProtKB)
IDA
GO:0005765
P49281 (UniProtKB)
IDA
GO:0005765
P49281 (UniProtKB)
IDA
GO:0005769
P49281 (UniProtKB)
IDA
GO:0005769
P49281 (UniProtKB)
IDA
GO:0005769
P49281 (UniProtKB)
IDA
GO:0005769
P49281 (UniProtKB)
IDA
GO:0005769
P49281 (UniProtKB)
IDA
GO:0005770
P49281 (UniProtKB)
IDA
GO:0005770
P49281 (UniProtKB)
IDA
GO:0005770
P49281 (UniProtKB)
IDA
GO:0005770
P49281 (UniProtKB)
IDA
GO:0005773
P49281 (UniProtKB)
IMP
GO:0005802
P49281 (UniProtKB)
IDA
GO:0005802
P49281 (UniProtKB)
IDA
GO:0005886
P49281 (UniProtKB)
IMP
GO:0005886
P49281 (UniProtKB)
IDA
GO:0005886
P49281 (UniProtKB)
IDA
GO:0005886
P49281 (UniProtKB)
IDA
GO:0005886
P49281 (UniProtKB)
IDA
GO:0005886
P49281 (UniProtKB)
IDA
GO:0005886
P49281 (UniProtKB)
IMP
GO:0005886
P49281 (UniProtKB)
TAS
GO:0005887
P49281 (UniProtKB)
IMP
GO:0005887
P49281 (UniProtKB)
IDA
GO:0006783
P49281 (UniProtKB)
IEA
GO:0006824
P49281 (UniProtKB)
IEA
GO:0006824
P49281 (UniProtKB)
IDA
GO:0006824
P49281 (UniProtKB)
IDA
GO:0006825
P49281 (UniProtKB)
IDA
GO:0006828
P49281 (UniProtKB)
IDA
GO:0006828
P49281 (UniProtKB)
IDA
GO:0006828
P49281 (UniProtKB)
IDA
GO:0006879
P49281 (UniProtKB)
TAS
GO:0006919
P49281 (UniProtKB)
IDA
GO:0007611
P49281 (UniProtKB)
IEA
GO:0009986
P49281 (UniProtKB)
IEA
GO:0009986
P49281 (UniProtKB)
IDA
GO:0010039
P49281 (UniProtKB)
IEP
GO:0010039
P49281 (UniProtKB)
IEP
GO:0010039
P49281 (UniProtKB)
IEP
GO:0010039
P49281 (UniProtKB)
IEP
GO:0010039
P49281 (UniProtKB)
IEP
GO:0015078
P49281 (UniProtKB)
IEA
GO:0015086
P49281 (UniProtKB)
IDA
GO:0015086
P49281 (UniProtKB)
IDA
GO:0015086
P49281 (UniProtKB)
IDA
GO:0015087
P49281 (UniProtKB)
IEA
GO:0015087
P49281 (UniProtKB)
IDA
GO:0015087
P49281 (UniProtKB)
IDA
GO:0015093
P49281 (UniProtKB)
IDA
GO:0015093
P49281 (UniProtKB)
IDA
GO:0015093
P49281 (UniProtKB)
IDA
GO:0015093
P49281 (UniProtKB)
IDA
GO:0015093
P49281 (UniProtKB)
IDA
GO:0015093
P49281 (UniProtKB)
IDA
GO:0015094
P49281 (UniProtKB)
IDA
GO:0015094
P49281 (UniProtKB)
IDA
GO:0015094
P49281 (UniProtKB)
IDA
GO:0015099
P49281 (UniProtKB)
IDA
GO:0015099
P49281 (UniProtKB)
IDA
GO:0015100
P49281 (UniProtKB)
IDA
GO:0015100
P49281 (UniProtKB)
IDA
GO:0015295
P49281 (UniProtKB)
IDA
GO:0015639
P49281 (UniProtKB)
IMP
GO:0015675
P49281 (UniProtKB)
IDA
GO:0015675
P49281 (UniProtKB)
IDA
GO:0015676
P49281 (UniProtKB)
IEA
GO:0015676
P49281 (UniProtKB)
IDA
GO:0015684
P49281 (UniProtKB)
IDA
GO:0015684
P49281 (UniProtKB)
IDA
GO:0015684
P49281 (UniProtKB)
IDA
GO:0015692
P49281 (UniProtKB)
IDA
GO:0015692
P49281 (UniProtKB)
IDA
GO:0015692
P49281 (UniProtKB)
IDA
GO:0016020
P49281 (UniProtKB)
IDA
GO:0016324
P49281 (UniProtKB)
IDA
GO:0016324
P49281 (UniProtKB)
IDA
GO:0016324
P49281 (UniProtKB)
IDA
GO:0016324
P49281 (UniProtKB)
IDA
GO:0022890
P49281 (UniProtKB)
IGI
GO:0022890
P49281 (UniProtKB)
IGI
GO:0031410
P49281 (UniProtKB)
IDA
GO:0031526
P49281 (UniProtKB)
ISS
GO:0031902
P49281 (UniProtKB)
IDA
GO:0033570
P49281 (UniProtKB)
NAS
GO:0033572
P49281 (UniProtKB)
NAS
GO:0034599
P49281 (UniProtKB)
IDA
GO:0035434
P49281 (UniProtKB)
IEA
GO:0035444
P49281 (UniProtKB)
IEA
GO:0035444
P49281 (UniProtKB)
IEA
GO:0045177
P49281 (UniProtKB)
IDA
GO:0045178
P49281 (UniProtKB)
IDA
GO:0046870
P49281 (UniProtKB)
IDA
GO:0046915
P49281 (UniProtKB)
IDA
GO:0048471
P49281 (UniProtKB)
IDA
GO:0048471
P49281 (UniProtKB)
IDA
GO:0048471
P49281 (UniProtKB)
IDA
GO:0048471
P49281 (UniProtKB)
IDA
GO:0048813
P49281 (UniProtKB)
IEA
GO:0048821
P49281 (UniProtKB)
IEA
GO:0055037
P49281 (UniProtKB)
IDA
GO:0055037
P49281 (UniProtKB)
IDA
GO:0060586
P49281 (UniProtKB)
IMP
GO:0070574
P49281 (UniProtKB)
IDA
GO:0070574
P49281 (UniProtKB)
IDA
GO:0070574
P49281 (UniProtKB)
IDA
GO:0070574
P49281 (UniProtKB)
IDA
GO:0070627
P49281 (UniProtKB)
IEA
GO:0070627
P49281 (UniProtKB)
IDA
GO:0070627
P49281 (UniProtKB)
IDA
GO:0070627
P49281 (UniProtKB)
IDA
GO:0070627
P49281 (UniProtKB)
IDA
GO:0070826
P49281 (UniProtKB)
IDA
GO:0071421
P49281 (UniProtKB)
IEA
GO:0071421
P49281 (UniProtKB)
IEA
GO:0071421
P49281 (UniProtKB)
IEA
GO:0071577
P49281 (UniProtKB)
IEA
GO:1902600
P49281 (UniProtKB)
IEA
GO:1903874
P49281 (UniProtKB)
IEA
GO:1903874
P49281 (UniProtKB)
IEA
GO:1903874
P49281 (UniProtKB)
IEA
GO:1903874
P49281 (UniProtKB)
IEA
GO:1903874
P49281 (UniProtKB)
IEA
GO:1903874
P49281 (UniProtKB)
IEA
GO:0003032
P49281 (UniProtKB)
IEP
GO:0005385
P49281 (UniProtKB)
IDA
GO:0010039
P49281 (UniProtKB)
IEP
GO:0015085
P49281 (UniProtKB)
IDA
GO:0070835
P49281 (UniProtKB)
IDA
GO:0030904
P49281 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 SLC11A2基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

Reactome

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
ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1 0.24 3 0 ORPHANET_UNIPROT
Anemia, Hypochromic Microcytic, With Iron Overload 0.24 0 3 CLINVAR_CTD_human
Iron deficiency anemia 0.200814326 5 0 BeFree_CTD_human_RGD
Hemochromatosis 0.126448592 8 0 BeFree_CTD_human_GAD_LHGDN
Liver neoplasms 0.12 1 0 CTD_human
Brain Ischemia 0.080271442 2 0 BeFree_RGD
Parkinsonian Disorders 0.080271442 3 0 BeFree_RGD
Pneumonia 0.08 1 0 RGD
Hypochromic anemia 0.08 1 0 RGD
Iron Overload 0.013059004 19 4 BeFree_LHGDN

基因相关服务

基因相关服务

联系方式

山东省济南市 高新区 崇华路359号 三庆世纪财富中心C1115室

电话： 0531-88819269

E-mail: product@genelibs.com

微信公众号

关注微信订阅号，实时查看信息，关注医学生物学动态。

版权所有 © 2025.Genelibs 济南弘晖生物技术有限公司 鲁ICP备13024435号-2