SMARCA4基因详情-基因数据库-基因云馆

SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4)

symbol:: SMARCA4
locus group:: protein-coding gene
location:: 19p13.2
gene_family:
alias symbol:: hSNF2b|BRG1|BAF190|SNF2|SWI2|SNF2-BETA|SNF2LB|FLJ39786
alias name:: SNF2-like 4|global transcription...
entrez id:: 6597
ensembl gene id:: ENSG00000127616
ucsc gene id:: uc060tnr.1
refseq accession:: NM_003072
hgnc_id:: HGNC:11100
approved reserved:: 1995-07-17

19p13.2

SMARCA4（SWI/SNF相关基质相关肌动蛋白依赖染色质调节因子亚家族A成员4）属于SWI/SNF染色质重塑复合物基因家族，该家族通过调控染色质结构（DNA和蛋白质的紧密缠绕形式）影响基因表达。SMARCA4编码的蛋白质是BRG1（Brahma相关基因1），作为ATP依赖的染色质重塑酶，它利用能量改变DNA与组蛋白的结合状态，从而激活或抑制靶基因转录。其主要作用位点是染色质的核心区域，参与胚胎发育、细胞分化、DNA修复和细胞周期调控等关键生物学过程。若SMARCA4发生功能丧失性突变（如错义突变或截短突变），会导致染色质重塑异常，与多种癌症相关，包括恶性横纹肌样瘤（约98%病例存在突变）、非小细胞肺癌和卵巢癌等。这些突变通常造成复合物组装缺陷，使抑癌基因沉默或原癌基因激活。SMARCA4过表达可能破坏正常的基因调控网络，促进细胞增殖；而低表达则可能导致分化障碍或基因组不稳定。在SWI/SNF家族中，所有成员均含有保守的ATP酶结构域，但SMARCA4与SMARCA2（BRM）是唯一具有催化活性的亚基，二者功能部分冗余——当SMARCA4缺失时，SMARCA2可有限补偿。值得注意的是，约20%的人类肿瘤存在SWI/SNF复合物组分突变，凸显该家族在肿瘤抑制中的核心地位。目前针对SMARCA4缺失型肿瘤的治疗策略（如EZH2抑制剂）正进行临床试验，利用合成致死（synthetic lethality，即两个基因同时失活才导致细胞死亡）原理攻击癌细胞。

中文English

由该基因编码的蛋白质是SWI / SNF家族的蛋白质的成员，并且是类似于果??蝇的梵蛋白质。这个家庭的成员具有解旋酶和ATP酶活性，被认为通过改变周围这些基因的染色质结构调节某些基因的转录。所编码的蛋白质是大ATP依赖的染色质重塑复合SNF / SW I，这是需要的基因的转录活化通常通过染色质压抑的一部分。另外，这种蛋白质可以结合的BRCA1，以及调节致瘤蛋白的CD44的表达。这个基因导致横纹肌样瘤倾向的辨证分型2.多个转录变异体编码不同亚型的突变也发现了这种基因。 [由RefSeq的，2012年5月提供]

OMIM数据库中对SMARCA4基因的介绍 Wikipedia数据库中对SMARCA4基因的介绍

SMARCA4基因的碱基序列：[NCBI]

Loading Gene Browser...

蛋白质序列

1MSTPDPPLGG TPRPGPSPGP GPSPGAMLGP SPGPSPGSAH
41SMMGPSPGPP SAGHPIPTQG PGGYPQDNMH QMHKPMESMH
81
EKGMSDDPR YNQMKGMGMR SGGHAGMGPP PSPMDQHSQG
121YPSPLGGSEH ASSPVPASGP SSGPQMSSGP GGAPLDGADP
161Q
ALGQQNRG PTPFNQNQLH QLRAQIMAYK MLARGQPLPD
201HLQMAVQGKR PMPGMQQQMP TLPPPSVSAT GPGPGPGPGP
241GP
GPGPAPP NYSRPHGMGG PNMPPPGPSG VPPGMPGQPP
281GGPPKPWPEG PMANAAAPTS TPQKLIPPQP TGRPSPAPPA
321VPP
AASPVM PPQTQSPGQP AQPAPMVPLH QKQSRITPIQ
361KPRGLDPVEI LQEREYRLQA RIAHRIQELE NLPGSLAGDL
401RTKA
TIELK ALRLLNFQRQ LRQEVVVCMR RDTALETALN
441AKAYKRSKRQ SLREARITEK LEKQQKIEQE RKRRQKHQEY
481LNSIL
QHAK DFKEYHRSVT GKIQKLTKAV ATYHANTERE
521QKKENERIEK ERMRRLMAED EEGYRKLIDQ KKDKRLAYLL
561QQTDEY
VAN LTELVRQHKA AQVAKEKKKK KKKKKAENAE
601GQTPAIGPDG EPLDETSQMS DLPVKVIHVE SGKILTGTDA
641PKAGQLE
AW LEMNPGYEVA PRSDSEESGS EEEEEEEEEE
681QPQAAQPPTL PVEEKKKIPD PDSDDVSEVD ARHIIENAKQ
721DVDDEYGV
S QALARGLQSY YAVAHAVTER VDKQSALMVN
761GVLKQYQIKG LEWLVSLYNN NLNGILADEM GLGKTIQTIA
801LITYLMEHK
 RINGPFLIIV PLSTLSNWAY EFDKWAPSVV
841KVSYKGSPAA RRAFVPQLRS GKFNVLLTTY EYIIKDKHIL
881AKIRWKYMIV 
DEGHRMKNH HCKLTQVLNT HYVAPRRLLL
921TGTPLQNKLP ELWALLNFLL PTIFKSCSTF EQWFNAPFAM
961TGEKVDLNEE E
TILIIRRL HKVLRPFLLR RLKKEVEAQL
1001PEKVEYVIKC DMSALQRVLY RHMQAKGVLL TDGSEKDKKG
1041KGGTKTLMNT IM
QLRKICN HPYMFQHIEE SFSEHLGFTG
1081GIVQGLDLYR ASGKFELLDR ILPKLRATNH KVLLFCQMTS
1121LMTIMEDYFA YRG
FKYLRL DGTTKAEDRG MLLKTFNEPG
1161SEYFIFLLST RAGGLGLNLQ SADTVIIFDS DWNPHQDLQA
1201QDRAHRIGQQ NEVR
VLRLC TVNSVEEKIL AAAKYKLNVD
1241QKVIQAGMFD QKSSSHERRA FLQAILEHEE QDESRHCSTG
1281SGSASFAHTA PPPAG
VNPD LEEPPLKEED EVPDDETVNQ
1321MIARHEEEFD LFMRMDLDRR REEARNPKRK PRLMEEDELP
1361SWIIKDDAEV ERLTCE
EEE EKMFGRGSRH RKEVDYSDSL
1401TEKQWLKAIE EGTLEEIEEE VRQKKSSRKR KRDSDAGSST
1441PTTSTRSRDK DDESKKQ
KK RGRPPAEKLS PNPPNLTKKM
1481KKIVDAVIKY KDSSSGRQLS EVFIQLPSRK ELPEYYELIR
1521KPVDFKKIKE RIRNHKYR
S LNDLEKDVML LCQNAQTFNL
1561EGSLIYEDSI VLQSVFTSVR QKIEKEDDSE GEESEEEEEG
1601EEEGSESESR SVKVKIKLG
 RKEKAQDRLK GGRRRPSRGS
1641RAKPVVSDDD SEEEQEEDRS GSGSEED

结构预测来自 AlphaFold DB（UniProt: P51532），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

SMARCA4基因的碱基突变：仅显示部分snp

rs7275 rs7935 rs9105 rs12012 rs881227 rs1019193 rs1019194 rs1029840 rs1050237 rs1122608 rs1529727 rs1529728 rs1529729 rs1801514 rs1804579 rs1865070 rs1968447

SMARCA4基因在不同组织中的表达： [UniProt]

正向引物序列

正向Tm值

反向引物序列

反向Tm值

评分

CAGGATGAGGAGGAAGACG

TGAACAGATCAAACTCCTCCT

CCTCTAAAGGAGGAAGACGAG

TGAACAGATCAAACTCCTCCT

CAGGATGAGGAGGAAGACG

TGAACAGATCAAACTCCTCCT

CAGGATGAGGAGGAAGACG

TGAACAGATCAAACTCCTCCT

ACAGGGTAAGAAGGCTTCG

CCACGTACTCGTCTGTCTG

TACAAGGACAGCAGTGGAC

GATGAGCTCGTAGTACTCGG

GTTCGACCAGAAGTCCTCC

CAGTGTCTGCTCTCATCCT

ATCCAGAAGCTGACCAAGG

TCATCTTCAGCCATGAGCC

GGCTCCCTGATCTATGAAGAC

TTCACTGTCATCCTCCTTCTC

GAATCCTCACCAGGACCTG

CAGTGAGTCGCTGTAGTCC

转录因子

影响基因

影响类型

参考文献链接（PubMed）

SMARCA4

ABCG2

Activation

18234970

SMARCA4

CAD

Unknown

14559996

SMARCA4

CCND1

Repression

18239461

SMARCA4

CD44

Repression

14604992

SMARCA4

CDH1

Activation

20418909

SMARCA4

CDKN1A

Activation

14729964

SMARCA4

CDKN2A

Activation

14604992

SMARCA4

FOS

Repression

10082538

SMARCA4

MECOM

Activation

14555651

STAT1

SMARCA4

Unknown

16195385

SMARCA4基因（以及对应的蛋白质）的细胞分布位置：

[UniProt] [GenomeNet]

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

SMARCA4基因的本体（GO）信息：

GO库代码

对应的蛋白质

来源代码

GO:0005524

A0A0A0MT49 (UniProtKB)

IEA

GO:0006355

A0A0A0MT49 (UniProtKB)

IEA

GO:0016514

A0A0A0MT49 (UniProtKB)

IEA

GO:0016887

A0A0A0MT49 (UniProtKB)

IEA

GO:0042393

A0A0A0MT49 (UniProtKB)

IEA

GO:0043044

A0A0A0MT49 (UniProtKB)

IEA

GO:0005634

K7EP28 (UniProtKB)

IDA

GO:0005730

K7EP28 (UniProtKB)

IDA

GO:0016514

K7EP28 (UniProtKB)

IEA

GO:0016887

K7EP28 (UniProtKB)

IEA

GO:0042393

K7EP28 (UniProtKB)

IEA

GO:0043044

K7EP28 (UniProtKB)

IEA

GO:0000122

P51532 (UniProtKB)

TAS

GO:0000790

P51532 (UniProtKB)

IDA

GO:0000790

P51532 (UniProtKB)

IDA

GO:0000790

P51532 (UniProtKB)

IDA

GO:0001105

P51532 (UniProtKB)

IDA

GO:0001164

P51532 (UniProtKB)

IDA

GO:0002039

P51532 (UniProtKB)

IPI

GO:0003407

P51532 (UniProtKB)

IEP

GO:0003713

P51532 (UniProtKB)

IMP

GO:0003713

P51532 (UniProtKB)

NAS

GO:0003714

P51532 (UniProtKB)

IDA

GO:0003714

P51532 (UniProtKB)

IDA

GO:0004386

P51532 (UniProtKB)

IEA

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005515

P51532 (UniProtKB)

IPI

GO:0005524

P51532 (UniProtKB)

IEA

GO:0005615

P51532 (UniProtKB)

IDA

GO:0005634

P51532 (UniProtKB)

IDA

GO:0005634

P51532 (UniProtKB)

IDA

GO:0005634

P51532 (UniProtKB)

IDA

GO:0005634

P51532 (UniProtKB)

IDA

GO:0005634

P51532 (UniProtKB)

IDA

GO:0005654

P51532 (UniProtKB)

TAS

GO:0005654

P51532 (UniProtKB)

TAS

GO:0005730

P51532 (UniProtKB)

IDA

GO:0005730

P51532 (UniProtKB)

IDA

GO:0006337

P51532 (UniProtKB)

IDA

GO:0006338

P51532 (UniProtKB)

IDA

GO:0006338

P51532 (UniProtKB)

IDA

GO:0006338

P51532 (UniProtKB)

GO:0006338

P51532 (UniProtKB)

IMP

GO:0006351

P51532 (UniProtKB)

IEA

GO:0006357

P51532 (UniProtKB)

NAS

GO:0007070

P51532 (UniProtKB)

TAS

GO:0007286

P51532 (UniProtKB)

IEA

GO:0007399

P51532 (UniProtKB)

IEA

GO:0008094

P51532 (UniProtKB)

IGI

GO:0008134

P51532 (UniProtKB)

IPI

GO:0016020

P51532 (UniProtKB)

IDA

GO:0016514

P51532 (UniProtKB)

IDA

GO:0016514

P51532 (UniProtKB)

IDA

GO:0016514

P51532 (UniProtKB)

IDA

GO:0030177

P51532 (UniProtKB)

IMP

GO:0030308

P51532 (UniProtKB)

IMP

GO:0030957

P51532 (UniProtKB)

IPI

GO:0043044

P51532 (UniProtKB)

IDA

GO:0043234

P51532 (UniProtKB)

IDA

GO:0043923

P51532 (UniProtKB)

IMP

GO:0045892

P51532 (UniProtKB)

IDA

GO:0045892

P51532 (UniProtKB)

IMP

GO:0045893

P51532 (UniProtKB)

IMP

GO:0045944

P51532 (UniProtKB)

IDA

GO:0045944

P51532 (UniProtKB)

IDA

GO:0045944

P51532 (UniProtKB)

IGI

GO:0047485

P51532 (UniProtKB)

IPI

GO:0050681

P51532 (UniProtKB)

IPI

GO:0051091

P51532 (UniProtKB)

IDA

GO:0051091

P51532 (UniProtKB)

IDA

GO:0060766

P51532 (UniProtKB)

IMP

GO:0070182

P51532 (UniProtKB)

IPI

GO:0070577

P51532 (UniProtKB)

IDA

GO:0071564

P51532 (UniProtKB)

ISS

GO:0071564

P51532 (UniProtKB)

IDA

GO:0071565

P51532 (UniProtKB)

ISS

GO:1901838

P51532 (UniProtKB)

IMP

GO:1902661

P51532 (UniProtKB)

IDA

GO:1902895

P51532 (UniProtKB)

IMP

GO:1904837

P51532 (UniProtKB)

TAS

GO:2000134

P51532 (UniProtKB)

TAS

GO:0000978

P51532 (UniProtKB)

IDA

GO:0000980

P51532 (UniProtKB)

IDA

GO:0031492

P51532 (UniProtKB)

IDA

GO:0005524

Q9HBD4 (UniProtKB)

IEA

GO:0005634

Q9HBD4 (UniProtKB)

IDA

GO:0005730

Q9HBD4 (UniProtKB)

IDA

GO:0006355

Q9HBD4 (UniProtKB)

IEA

GO:0016514

Q9HBD4 (UniProtKB)

IEA

GO:0016887

Q9HBD4 (UniProtKB)

IEA

GO:0042393

Q9HBD4 (UniProtKB)

IEA

GO:0043044

Q9HBD4 (UniProtKB)

IEA

可能调控 SMARCA4基因的相关microRNA：

hsa-let-7b hsa-miR-155 hsa-miR-34a hsa-miR-98 hsa-miR-21* hsa-miR-16 hsa-miR-21 hsa-miR-222 hsa-miR-342-5p hsa-miR-615-3p

BioGrid

IntAct

mentha

MINT

加载中…

关联基因	作用方式	资源库来源/分值

Reactomepathway

名称
Chromatin modifying enzymes
Chromatin organization
formation of the beta-catenin:TCF transactivating complex
RMTs methylate histone arginines
Signaling by Wnt
TCF dependent signaling in response to WNT

疾病名称

关系值

NofPmids

NofSnps

来源

疾病名称	关系值	NofPmids	NofSnps	来源
Coffin-Siris syndrome	0.240542884	3	0	BeFree_CTD_human_ORPHANET
MENTAL RETARDATION, AUTOSOMAL DOMINANT 16	0.24	1	6	CLINVAR_UNIPROT
Rhabdoid Tumor Predisposition Syndrome 2	0.24	0	9	CLINVAR_CTD_human
Coronary Artery Disease	0.12554839	5	3	BeFree_GAD_GWASCAT
Myocardial Infarction	0.124734064	1	2	GAD_GWASCAT
Coronary heart disease	0.122638474	3	4	BeFree_GAD_GWASCAT
Small cell carcinoma of lung	0.121357209	5	0	BeFree_CTD_human
Carcinoma, Small Cell	0.121085767	5	0	BeFree_CTD_human
Burkitt Lymphoma	0.120542884	3	0	BeFree_CTD_human
ovarian neoplasm	0.120271442	4	0	BeFree_CTD_human

Paediatric Therapeutic Development Workshop on rhabdoid tumours.

Montiel Equihua C, Molenaar JJ, Areso I, Biegel JA, Blanc P, Chi SN, Daems S, Danielson L, Drost J, Franke NE, Frühwald MC, Gajjar A, Geller JI, Huang A, Johann PD, Kearns P, Nysom K, O'Connor S, Ortiz MV, Parker J, Patel S, Patel S, Roberts CW, Williamson D, Yi JS, Pearson AD, Jenkinson D, Kool M, Bourdeaut F, LifeArc, Innovative Therapies for Children with Cancer ITCC, Cancer Research UK, Cancer Grand Challenge PROTECT team Br J Cancer IF: 7.8 2026-06-00

Ceritinib efficacy in SMARCA4-deficient NSCLC harboring novel CTNND2 ALK/EML4-ALK fusion: case report.

Fu Z, Huang G, Xie J, Luo L, Ren Q, He H, Wang Y, Zhang J Front Oncol IF: 3.4 None

TTF-1 Expression in Lung Adenocarcinoma: Clinicopathologic, Genomic, and Immunophenotypic Correlates and Outcomes to Immunotherapy-Based Treatments and KRASG12C Inhibitors.

Di Federico A, Hong L, Elkrief A, Thummalapalli R, Cooper AJ, Ricciuti B, Digumarthy S, Alessi JV, Gogia P, Hambelton GM, Pecci F, Makarem M, Gandhi MM, Garbo E, De Giglio A, Gagliano A, Sperandi F, Gelsomino F, Scalera S, Cipriani L, Marinelli D, Lamberti G, Shaverdian N, Haradon J, Nguyen T, Voligny E, Ladanyi M, Zhang J, Gibbons DL, Heymach JV, Nishino M, Rodig SJ, Pfaff K, Wang X, Rekhtman N, Sholl LM, Luo J, Johnson BE, Janne PA, Arvind R, Gainor JF, Maugeri-Saccà M, Ardizzoni A, Heist RS, Arbour KC, Schoenfeld AJ, Vokes NI, Awad MM J Thorac Oncol IF: 23.3 2026-07-00

SMARCA4 deficiency in glioblastoma: Mitochondrial transfer from MSCs and the clinical dilemma in targeting the tumor microenvironment.

Yang F, Chen L, Shi Y, Wang L, Tong M Neoplasia IF: 4.8 2026-03-00

Simultaneous CRISPR-on activation of TFAP2C and SMARCA4 promotes development of trophoblast-fate cells in bovine embryos†.

Alberio V, Savy V, Felipe MY, Fernandez-Martín R, Salamone DF Biol Reprod IF: 3.2 2026-05-13

Toripalimab in patients with previously treated advanced upper tract urothelial carcinoma: a subgroup analysis of the phase II POLARIS-03 trial.

Wei J, Zhang R, Li J, Li S, Yan X, Chen H, Guo H, Hu B, Liu Z, Guo J, Sheng X Oncologist IF: 4.7 2026-03-09

Overcoming menin inhibitor resistance in AML cells with combinations including BET proteins and a dual BRG1/BRM inhibitor.

Fiskus W, Mill CP, Issa GC, Piel J, Collins M, Hentemann M, Cuglievan B, Hou H, Jain A, Malovannaya A, Kadia TM, Daver N, Sasaki K, Takahashi K, Hammond D, Senapati J, Loghavi S, Flores LB, Su X, DiNardo CD, Bhalla KN Blood IF: 23.9 2026-06-04

Design, synthesis and pharmacological evaluation of new SMARCA2 degraders bearing a furo[3,2-c]pyridazine scaffold.

Diao J, Jing H, Lin X, Wang Y, Lu Y, Xu L, Xiong C, Zhang A, Meng L, Zhang X, Song Z Eur J Med Chem IF: 6.7 2026-04-15

Clinicopathological and Genomic Analysis of SMARCA4-Deficient Non-Small Cell Lung Cancer: A Retrospective Cohort Study.

Chen D, Zhang H, Wang D, Ye W, Zhao H, Zhang C, Wu S, Shi Q Cancer Manag Res IF: 2.6 None

SMARCA4-Deficient Carcinomas of the Small Intestine: A Systematic Review.

Syed A, Boumber Y, Malla M Curr Oncol IF: 3.6 2026-02-10

查看更多相关文献 »

评论加载中...

登录后即可发表评论登录注册

联系地址

山东省济南市章丘区文博路2号

齐鲁师范学院 genelibs生信实验室

山东省济南市高新区舜华路750号

大学科技园北区F座4单元2楼

电话： 0531-88819269

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。

商务邮箱

E-mail: product@genelibs.com

SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4)

基因基本信息

基因基本信息

基因染色体位置

基因染色体位置

基因简述

基因简述

基因序列

基因序列

编码蛋白质

编码蛋白质

基因突变

基因突变

基因表达

基因表达

基因引物

基因引物

转录因子

转录因子

基因本体信息

基因相关microRNA

基因相关microRNA

基因相互作用关系

基因相互作用关系

基因通路

基因通路

基因相关疾病

基因相关疾病

基因相关文献

基因相关文献

基因相关服务

基因相关服务

基因相关评论

基因相关评论

联系地址

微信公众号