FANCM (FA complementation group M)

基因基本信息

基因基本信息

symbol:
FANCM
locus group:
protein-coding gene
location:
14q21.2
gene_family:
Fanconi anemia, complementation groups
alias symbol:
FAAP250
alias name:
None
entrez id:
57697
ensembl gene id:
ENSG00000187790
ucsc gene id:
uc001wwd.5
refseq accession:
NM_020937
hgnc_id:
HGNC:23168
approved reserved:
2003-11-21

基因染色体位置

基因染色体位置

14q21.2

基因简述

基因简述

FANCM基因属于范可尼贫血（Fanconi anemia，FA）基因家族，该家族包含多个参与DNA损伤修复和基因组稳定的基因。FANCM编码的蛋白质是FA核心复合体的关键组成部分，主要负责识别和修复DNA链间交联（ICLs），这是DNA损伤的一种严重形式。FANCM蛋白具有解旋酶活性，能够解开DNA双链，为后续修复蛋白提供结合位点。此外，FANCM还参与同源重组修复（HR）和复制叉稳定性的维持。FANCM基因突变会导致范可尼贫血，这是一种罕见的遗传性疾病，表现为骨髓衰竭、先天性畸形、癌症易感性（尤其是白血病和鳞状细胞癌）以及对DNA交联剂的高度敏感。突变可能破坏FA修复通路，导致基因组不稳定和细胞凋亡增加。FANCM的过表达可能与某些癌症的发生有关，因为它可能错误地激活DNA修复机制，导致细胞增殖失控。相反，FANCM表达降低会削弱DNA修复能力，增加突变积累和染色体异常的风险，从而促进肿瘤发生或加重范可尼贫血的症状。FANCM基因家族（FA家族）的共性在于它们共同参与FA-BRCA通路，该通路在DNA损伤响应和修复中起核心作用。家族成员通常通过形成多蛋白复合体来协调修复过程，确保基因组完整性。FANCM的独特之处在于其解旋酶功能，使其在识别和处理DNA损伤中扮演先锋角色。研究还发现FANCM与其他DNA修复蛋白（如BRCA1/2）相互作用，进一步扩展了其在维持基因组稳定性中的重要性。

中文English

的范可尼贫血互补组（FANC）目前包括FANCA，FANCB，FANCC，FANCD1（也称为BRCA2），FANCD2，FANCE，FANCF，FANCG，科特迪瓦国民军，FANCJ（也称为BRIP1），FANCL，FANCM和FANCN（也叫PALB2）。先前定义的基团FANCH相同FANCA。范可尼贫血是一种遗传异质性隐性疾病的特点是细胞遗传不稳定，过敏DNA交联剂，增加染色体断裂，和有缺陷的DNA修复。在范可尼贫血互补组不共享序列相似的成员;它们由它们的装配相关成一个共同的核蛋白复合物。该基因编码在多个转录变体互补组M.选择性剪接的结果的蛋白质。 [由RefSeq的，2015年4月提供]

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

基因序列

基因序列

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

编码蛋白质

编码蛋白质

蛋白质序列
1MSGRQRTLFQ TWGSSISRSS GTPGCSSGTE RPQSPGSSKA
41PLPAAAEAQL ESDDDVLLVA AYEAERQLCL ENGGFCTSAG
81 ALWIYPTNC PVRDYQLHIS RAALFCNTLV CLPTGLGKTF
121IAAVVMYNFY RWFPSGKVVF MAPTKPLVTQ QIEACYQVMG
161I PQSHMAEM TGSTQASTRK EIWCSKRVLF LTPQVMVNDL
201SRGACPAAEI KCLVIDEAHK ALGNYAYCQV VRELVKYTNH
241FR ILALSAT PGSDIKAVQQ VITNLLIGQI ELRSEDSPDI
281LTYSHERKVE KLIVPLGEEL AAIQKTYIQI LESFARSLIQ
321RNV LMRRDI PNLTKYQIIL ARDQFRKNPS PNIVGIQQGI
361IEGEFAICIS LYHGYELLQQ MGMRSLYFFL CGIMDGTKGM
401TRSK NELGR NEDFMKLYNH LECMFARTRS TSANGISAIQ
441QGDKNKKFVY SHPKLKKLEE VVIEHFKSWN AENTTEKKRD
481ETRVM IFSS FRDSVQEIAE MLSQHQPIIR VMTFVGHASG
521KSTKGFTQKE QLEVVKQFRD GGYNTLVSTC VGEEGLDIGE
561VDLIIC FDS QKSPIRLVQR MGRTGRKRQG RIVIILSEGR
601EERIYNQSQS NKRSIYKAIS SNRQVLHFYQ RSPRMVPDGI
641NPKLHKM FI THGVYEPEKP SRNLQRKSSI FSYRDGMRQS
681SLKKDWFLSE EEFKLWNRLY RLRDSDEIKE ITLPQVQFSS
721LQNEENKP A QESTTGIHQL SLSEWRLWQD HPLPTHQVDH
761SDRCRHFIGL MQMIEGMRHE EGECSYELEV ESYLQMEDVT
801STFIAPRNE SNNLASDTFI THKKSSFIKN INQGSSSSVI
841ESDEECAEIV KQTHIKPTKI VSLKKKVSKE IKKDQLKKEN
881NHGIIDSVDN DRNSTVENI FQEDLPNDKR TSDTDEIAAT
921CTINENVIKE PCVLLTECQF TNKSTSSLAG NVLDSGYNSF
961NDEKSVSSNL F LPFEEELY IVRTDDQFYN CHSLTKEVLA
1001NVERFLSYSP PPLSGLSDLE YEIAKGTALE NLLFLPCAEH
1041LRSDKCTCLL SH SAVNSQQ NLELNSLKCI NYPSEKSCLY
1081DIPNDNISDE PSLCDCDVHK HNQNENLVPN NRVQIHRSPA
1121QNLVGENNHD VDN SDLPVL STDQDESLLL FEDVNTEFDD
1161VSLSPLNSKS ESLPVSDKTA ISETPLVSQF LISDELLLDN
1201NSELQDQITR DANS FKSRD QRGVQEEKVK NHEDIFDCSR
1241DLFSVTFDLG FCSPDSDDEI LEHTSDSNRP LDDLYGRYLE
1281IKEISDANYV SNQAL IPRD HSKNFTSGTV IIPSNEDMQN
1321PNYVHLPLSA AKNEELLSPG YSQFSLPVQK KVMSTPLSKS
1361NTLNSFSKIR KEILKT PDS SKEKVNLQRF KEALNSTFDY
1401SEFSLEKSKS SGPMYLHKSC HSVEDGQLLT SNESEDDEIF
1441RRKVKRAKGN VLNSPED QK NSEVDSPLHA VKKRRFPINR
1481SELSSSDESE NFPKPCSQLE DFKVCNGNAR RGIKVPKRQS
1521HLKHVARKFL DDEAELSE E DAEYVSSDEN DESENEQDSS
1561LLDFLNDETQ LSQAINDSEM RAIYMKSLRS PMMNNKYKMI
1601HKTHKNINIF SQIPEQDET YLEDSFCVDE EESCKGQSSE
1641EEVCVDFNLI TDDCFANSKK YKTRRAVMLK EMMEQNCAHS
1681KKKLSRIILP DDSSEEENNV NDKRESNIA VNPSTVKKNK
1721QQDHCLNSVP SGSSAQSKVR STPRVNPLAK QSKQTSLNLK
1761DTISEVSDFK PQNHNEVQST T PPFTTVDS QKDCRKFPVP
1801QKDGSALEDS STSGASCSKS RPHLAGTHTS LRLPQEGKGT
1841CILVGGHEIT SGLEVISSLR AI HGLQVEV CPLNGCDYIV
1881SNRMVVERRS QSEMLNSVNK NKFIEQIQHL QSMFERICVI
1921VEKDREKTGD TSRMFRRTKS YDS LLTTLI GAGIRILFSS
1961CQEETADLLK ELSLVEQRKN VGIHVPTVVN SNKSEALQFY
2001LSIPNISYIT ALNMCHQFSS VKRM ANSSL QEISMYAQVT
2041HQKAEEIYRY IHYVFDIQML PNDLNQDRLK SDI
结构预测来自 AlphaFold DB（UniProt: Q8IYD8），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

基因突变

基因突变

FANCM基因的碱基突变：           仅显示部分snp
rs170542       rs179105       rs226976       rs226977       rs226980       rs226981       rs226984       rs911040       rs911041       rs1367580       rs1431050       rs1968402       rs1969713       rs2033385       rs2163408       rs2415883       rs3736772      

基因表达

基因表达

FANCM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
AATGCTTTCACAGCATCAGC
60
CTGATTATAAATCTCCAGTTGCTCC
60
TCATTGAGCAGATCCAGCA
59
TTTCTTCTTGGCAGGAACTG
58
AGTGATATAAAGGCTGTGCA
57
ATCTGGAGAATCTTCAGAACG
58
CGAAATGACAGGGTCTACAC
58
GTCATTTACCATGACCTGAGG
59
TCATGTTCCAACAGTGGTG
58
TTGAAGTGAGCTGTTAGCC
58
CAACGAAACCCTTGGTGAC
59
GTGTAGACCCTGTCATTTCG
58
TCATGTTCCAACAGTGGTG
58
TTGAAGTGAGCTGTTAGCC
58
GAAGCAAGTCACTAAATGGAC
57
TTGACAGCATGAAGTGGAG
58
TATGCTTATTGCCAGGCTG
58
TCTGGAGAATCTTCAGAACG
57
GAAGACTTCAAGGTTTGTAACG
58
AGCTACATGCTTTAAGTGACTC
59

转录因子

转录因子

      尚未收录相关数据

基因本体信息

FANCM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

FANCM基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0003677
H0YJ14 (UniProtKB)
IEA
GO:0004518
H0YJ14 (UniProtKB)
IEA
GO:0006259
H0YJ14 (UniProtKB)
IEA
GO:0090305
H0YJ14 (UniProtKB)
IEA
GO:0003677
H0YJ45 (UniProtKB)
IEA
GO:0004518
H0YJ45 (UniProtKB)
IEA
GO:0006259
H0YJ45 (UniProtKB)
IEA
GO:0090305
H0YJ45 (UniProtKB)
IEA
GO:0003677
H0YJN7 (UniProtKB)
IEA
GO:0004518
H0YJN7 (UniProtKB)
IEA
GO:0006259
H0YJN7 (UniProtKB)
IEA
GO:0090305
H0YJN7 (UniProtKB)
IEA
GO:0003677
H0YJS3 (UniProtKB)
IEA
GO:0004518
H0YJS3 (UniProtKB)
IEA
GO:0005654
H0YJS3 (UniProtKB)
IDA
GO:0006259
H0YJS3 (UniProtKB)
IEA
GO:0090305
H0YJS3 (UniProtKB)
IEA
GO:0000712
Q8IYD8 (UniProtKB)
IMP
GO:0003677
Q8IYD8 (UniProtKB)
IEA
GO:0003682
Q8IYD8 (UniProtKB)
IDA
GO:0004386
Q8IYD8 (UniProtKB)
IEA
GO:0004518
Q8IYD8 (UniProtKB)
IEA
GO:0005515
Q8IYD8 (UniProtKB)
IPI
GO:0005515
Q8IYD8 (UniProtKB)
IPI
GO:0005524
Q8IYD8 (UniProtKB)
IEA
GO:0005654
Q8IYD8 (UniProtKB)
IDA
GO:0005654
Q8IYD8 (UniProtKB)
TAS
GO:0005654
Q8IYD8 (UniProtKB)
TAS
GO:0005654
Q8IYD8 (UniProtKB)
TAS
GO:0005654
Q8IYD8 (UniProtKB)
TAS
GO:0005654
Q8IYD8 (UniProtKB)
TAS
GO:0005654
Q8IYD8 (UniProtKB)
TAS
GO:0005654
Q8IYD8 (UniProtKB)
TAS
GO:0005654
Q8IYD8 (UniProtKB)
TAS
GO:0005654
Q8IYD8 (UniProtKB)
TAS
GO:0005654
Q8IYD8 (UniProtKB)
TAS
GO:0005654
Q8IYD8 (UniProtKB)
TAS
GO:0005654
Q8IYD8 (UniProtKB)
TAS
GO:0031297
Q8IYD8 (UniProtKB)
IMP
GO:0036297
Q8IYD8 (UniProtKB)
TAS
GO:0043240
Q8IYD8 (UniProtKB)
IDA
GO:0043240
Q8IYD8 (UniProtKB)
IDA
GO:0071821
Q8IYD8 (UniProtKB)
IDA
GO:0090305
Q8IYD8 (UniProtKB)
IEA

基因相关microRNA

基因相关microRNA

可能调控 FANCM基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

String
BioGrid
IntAct
mentha
MINT
Reactome
加载中…
关联基因 作用方式 资源库来源/分值

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
Fanconi Anemia 0.247881746 19 0 BeFree_CTD_human_LHGDN_ORPHANET
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 0.004885954 18 0 BeFree
Malignant neoplasm of breast 0.004734064 2 0 GAD
Anemia 0.000271442 1 0 BeFree
Colorectal Cancer 0.000271442 1 0 BeFree
Pancytopenia 0.000271442 1 0 BeFree
Fanconi Syndrome 0.000271442 1 0 BeFree
Congenital chromosomal disease 0.000271442 1 0 BeFree
Osteosarcoma 0.000271442 1 0 BeFree
Osteosarcoma of bone 0.000271442 1 0 BeFree

基因相关文献

基因相关文献

Break-induced replication is enhanced by a phospho-activated RPA-binding module in Pol32.
Jones D, Appanah R, Yates LA, Oliver AW, Rass U Nat Commun IF: 12.124 2026-04-09
Chronic replication stress-mediated genomic instability disrupts placenta development in mice.
Munisha M, Huang R, Khan J, Schimenti JC PLoS Genet IF: 3.9 2026-04-00
Defective BRCA1-mediated DNA end resection drives tandem duplication formation and FANCM synthetic lethality.
Nilavar NM, Marin-Gonzalez A, Menghi F, Nguyen D, Willis NA, Wientjens E, Xia B, Jonkers J, Liu ET, Scully R bioRxiv 2026-02-20
Predisposition to ALL and Solid Tumors Rather Than Bone Marrow Failure in FANCM-Associated Fanconi Anemia.
Pegoraro F, Larcher L, Kim R, Pagès M, Passet M, Caye-Eude A, Fahd M, Brethon B, Hernandez L, Vasquez N, Da Costa M, Auger N, Lachaud C, de Tersant M, Luporsi E, Sébert M, Dalle JH, Peffault de Latour R, Clappier E, Stoppa-Lyonnet D, Leblanc T, Paillard C, Sicre de Fontbrune F, Soulier J JCO Precis Oncol 2026-03-00
Genomic characterization of resistant and relapsed adult B-cell acute lymphoblastic leukemia.
Płotka A, Marcinkowska-Swojak M, Rakoczy M, Zeńczak M, Litowczenko W, Koralewska N, Kanduła Z, Gil L, Handschuh L, Lewandowski K J Appl Genet IF: 2.1 2026-03-26
Real-World Germline Testing Patterns and Clinical Implications of HRR-Associated Germline Variants in Pancreatic Ductal Adenocarcinoma.
Abad CB, Deza DC, Campillo FM, Fuente NP, Egea SER, Caballero LG, Delgado CS, Molina CAR, Gallart MDM, Ferrández MJA, Pons PG, Ramírez SEC, Ruiz MG, Marques EP, Pazo Cid RA Cancers (Basel) 2026-08-11
CHAMP1 complex promotes heterochromatin assembly and reduces replication stress.
Li F, Elbakry A, Zhou FY, Zhang T, Ravindranathan R, Nguyen H, Syed A, Sun L, Mukkavalli S, Greenberg RA, D'Andrea AD Proc Natl Acad Sci U S A IF: 9.5 2026-01-06
Crossover control: A key to unlocking genetic diversity in plant breeding.
Park J, Kbiri N, Choi K J Integr Plant Biol IF: 12.5 2026-08-00

基因相关服务

基因相关服务

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基因相关评论

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