ESPN (espin)

基因基本信息

基因基本信息

symbol:
ESPN
locus group:
protein-coding gene
location:
1p36.31
gene_family:
Ankyrin repeat domain containing
alias symbol:
None
alias name:
None
entrez id:
83715
ensembl gene id:
ENSG00000187017
ucsc gene id:
uc001amy.3
refseq accession:
NM_031475
hgnc_id:
HGNC:13281
approved reserved:
2001-12-05

基因染色体位置

基因染色体位置

1p36.31

基因简述

基因简述

ESPIN（espin）是一种肌动蛋白结合蛋白，属于espin基因家族，主要功能是调控肌动蛋白（actin）细胞骨架的组装和稳定。它在听觉和平衡系统中发挥关键作用，尤其在耳蜗毛细胞的静纤毛（stereocilia）中高度表达，帮助维持纤毛的结构和机械敏感性。静纤毛是听觉信号转导的核心部位，espin通过稳定肌动蛋白束确保纤毛的刚性和正确排列，从而影响听觉和平衡功能。espin基因突变可导致常染色体隐性遗传的非综合征性耳聋（DFNB36），突变会破坏其与肌动蛋白的结合能力，导致静纤毛结构异常、信号转导障碍，进而引发听力损失。espin过表达可能增强肌动蛋白聚合，使细胞骨架过度稳定，可能干扰纤毛的动态重塑；而表达降低则会导致静纤毛发育缺陷或退化，影响听觉功能。espin基因家族成员（如espin-like蛋白）均含有保守的肌动蛋白结合域，共性是通过调控细胞骨架参与细胞形态维持和运动。此外，espin在睾丸、肠道微绒毛等组织中也有表达，可能与精子运动或营养吸收相关，但具体机制仍需研究。专业术语解释：肌动蛋白（actin）是细胞骨架的主要成分，参与细胞形态维持和运动；静纤毛（stereocilia）是听觉毛细胞表面的特化结构，负责将声波振动转化为电信号；常染色体隐性遗传指两个突变等位基因均遗传自父母时才会发病。

中文English

该基因编码一个多功能的肌动蛋白捆绑。它在调节机构，尺寸，动力和信号的肌动蛋白丝丰富，微绒毛型专业调解各种mechanosensory和化学感受细胞的感官转导能力的重大作用。在这个基因的突变与常染色体隐性遗传性耳聋感觉神经，和常染色体显性遗传耳聋无前庭受累相关。 [由RefSeq的，2009年11月提供]

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

基因序列

基因序列

ESPN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
1MALEQALQAA RQGELDVLRS LHAAGLLGPS LRDPLDALPV
41HHAARAGKLH CLRFLVEEAA LPAAARARNG ATPAHDASAT
81 GHLACLQWL LSQGGCRVQD KDNSGATVLH LAARFGHPEV
121VNWLLHHGGG DPTAATDMGA LPIHYAAAKG DFPSLRLLVE
161H YPEGVNAQ TKNGATPLYL ACQEGHLEVT QYLVQECGAD
201PHARAHDGMT PLHAAAQMGH SPVIVWLVSC TDVSLSEQDK
241DG ATAMHFA ASRGHTKVLS WLLLHGGEIS ADLWGGTPLH
281DAAENGELEC CQILVVNGAE LDVRDRDGYT AADLSDFNGH
321SHC TRYLRT VENLSVEHRV LSRDPSAELE AKQPDSGMSS
361PNTTVSVQPL NFDLSSPTST LSNYDSCSSS HSSIKGQHPP
401CGLS SARAA DIQSYMDMLN PELGLPRGTI GKPTPPPPPP
441SFPPPPPPPG TQLPPPPPGY PAPKPPVGPQ AADIYMQTKN
481KLRHV ETEA LKKELSSCDG HDGLRRQDSS RKPRAFSKQP
521STGDYYRQLG RCPGETLAAR PGMAHSEEVR ARQPARAGCP
561RLGPAA RGS LEGPSAPPQA ALLPGNHVPN GCAADPKASR
601ELPPPPPPPP PPLPEAASSP PPAPPLPLES AGPGCGQRRS
641SSSTGST KS FNMMSPTGDN SELLAEIKAG KSLKPTPQSK
681GLTTVFSGIG QPAFQPDSPL PSVSPALSPV RSPTPPAAGF
721QPLLNGSL V PVPPTTPAPG VQLDVEALIP THDEQGRPIP
761EWKRQVMVRK MQLKMQEEEE QRRKEEEEEA RLASMPAWRR
801DLLRKKLEE EREQKRKEEE RQKQEELRRE KEQSEKLRTL
841GYDESKLAPW QRQVILKKGD IAKY
结构预测来自 AlphaFold DB（UniProt: B1AK53），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

基因突变

基因突变

ESPN基因的碱基突变：           仅显示部分snp
rs932402       rs1059332       rs1318338       rs1810437       rs2003071       rs2003072       rs2006010       rs2076480       rs2103673       rs2148966       rs2148967       rs2311028       rs2311035       rs2311043       rs2311044       rs2311045       rs2871653      

基因表达

基因表达

ESPN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
ACAGGAAGAGCACCAAGTC
59
AATCTCAGCCAGTAGCTCC
58
GAACAGTCAGAGAAGCTGC
58
ATCGCGGTATTAAATCTGTCG
58
TCTAGGAAGTCAGCTGCTG
58
GAAAGACTTGGTGCCTCCT
59
GGAAGAAGCTGGAAGAAGAG
58
CTCTGACTGTTCCTTCTCCC
59
ATTAAAGCGCTCTCATCTGG
58
CGGTATTAAATCCCGAGAAGG
58
GTGTGGTTGGACAAAGACG
59
TTCACTACCAGGATCTGGC
58
GGAACCATGTTCCTAACGG
58
TTGAAAGACTTGGTGCTGC
59
GGAAGAAGCTGGAAGAAGAG
58
TCTGACTGTTCCTTCTCCC
58
GTCTAGGAAGTCAGCTGCT
58
AAAGACTTGGTGCCTCCTC
59
ATTAAAGCGCTCTCATCTGG
58
GGTATTAAATCCCGAGAAGGAG
58

转录因子

转录因子

      尚未收录相关数据

基因本体信息

ESPN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

ESPN基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0051015
A0A0A0MSQ4 (UniProtKB)
IEA
GO:0051017
A0A0A0MSQ4 (UniProtKB)
IEA
GO:0051015
A0A0J9YWQ8 (UniProtKB)
IEA
GO:0051017
A0A0J9YWQ8 (UniProtKB)
IEA
GO:0051015
A0A0J9YY76 (UniProtKB)
IEA
GO:0051017
A0A0J9YY76 (UniProtKB)
IEA
GO:0005737
B1AK53 (UniProtKB)
IEA
GO:0005902
B1AK53 (UniProtKB)
IEA
GO:0005903
B1AK53 (UniProtKB)
ISS
GO:0007605
B1AK53 (UniProtKB)
IEA
GO:0007626
B1AK53 (UniProtKB)
IEA
GO:0017124
B1AK53 (UniProtKB)
ISS
GO:0030046
B1AK53 (UniProtKB)
IEA
GO:0031941
B1AK53 (UniProtKB)
ISS
GO:0032426
B1AK53 (UniProtKB)
IEA
GO:0051015
B1AK53 (UniProtKB)
ISS
GO:0051491
B1AK53 (UniProtKB)
IEA
GO:0051494
B1AK53 (UniProtKB)
IEA
GO:0051015
H0Y7L4 (UniProtKB)
IEA
GO:0051017
H0Y7L4 (UniProtKB)
IEA
GO:0051015
Q5JYL1 (UniProtKB)
IEA
GO:0051017
Q5JYL1 (UniProtKB)
IEA

基因相关microRNA

基因相关microRNA

可能调控 ESPN基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

String
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
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT 0.36 1 0 CLINVAR_CTD_human_UNIPROT
Vestibular Diseases 0.12 1 0 CTD_human
Deafness 0.12 2 0 CTD_human
Deafness, Autosomal Recessive 36, Without Vestibular Involvement 0.12 0 0 CLINVAR
hearing impairment 0.0054487 2 0 LHGDN
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 0.000271442 1 0 BeFree
Usher Syndrome 0.000271442 1 0 BeFree
Retinal Degeneration 0.000271442 1 0 BeFree
melanoma 0.000271442 1 0 BeFree
Nonsyndromic Deafness 0.000271442 1 0 BeFree

基因相关文献

基因相关文献

Diagnosis and management of mineral and bone disorders in paediatric kidney transplant recipients: a position statement from the European Society for Paediatric Nephrology.
Prytuła A, Pape L, Arslan Z, Bakkaloglu S, Düzova A, Evenepoel P, Gülhan B, Hogan J, Lalayiannis AD, Levy Erez D, Obrycki Ł, Oh J, Schmitt CP, Skou Jørgensen H, Printza N, Shenoy M, Taşdemir M, Tönshoff B, Topaloglu R, Zieg J, Shroff R, Haffner D, Bacchetta J Pediatr Nephrol IF: 2.5 2026-04-13
Fusobacterium nucleatum promotes tumor extravasation and metastasis in head and neck cancer via TLR4/MYB/ESPN axis.
Yuan X, Huang H, Wang Z, Lau HC, Huang Q, Shen Y, Zhang M, Tao L, Gong H, Hsueh CY, Zhou L Commun Biol 2026-03-25
Demographics, longitudinal changes and outcome of high blood pressure in children and adolescents on kidney replacement therapy: 15 years of data from the ESPN/ERA Registry.
Vidal E, Harambat J, Bakkaloglu SA, Sinha MD, Aldea C, Kapogiannis C, Monemi KÅ, Baiko S, Chimenz R, Drozdz D, Giner T, Heaf JG, Ivanov D, Jankauskiene A, Laux-End R, Lungu A, Melk A, Pietrement C, Pitcher D, Podracka L, Seeman T, Simão C, Tabel Y, Tainio J, Wallace D, Jager KJ, Bonthuis M Pediatr Nephrol IF: 2.5 2026-09-00
Vascular access for hemodialysis and catheter-related bloodstream infections: a survey on preventive measures and treatment strategies by the EPDWG and ESPN Dialysis Working Group.
Bakkaloğlu SA, Leventoğlu E, Ezgü D, Bayrakçı US, Buder K, Canpolat N, Cappoli A, Cruz A, Dorresteijn E, Dönmez O, Erdoğan H, Göknar N, Guzzo I, Bayazıt AK, Lalayiannis AD, Longo G, López-Báez V, Madrid A, Mehmood K, Nalçacıoğlu H, Obrycki L, Parmaksız G, Peyronel F, Printza N, Roussinov D, Rus R, Sallam DE, Stabouli S, Szczepanska M, Tabel Y, Taşdemir M, Teixeira A, Tellier S, Yıldız N, Zaloszyc A, Schmitt CP, Shroff R, Edefonti A Eur J Pediatr IF: 2.9 2026-01-07
Bone turnover markers in the management of CKD-associated osteoporosis-a European consensus.
Haarhaus M, Jørgensen HS, Bacchetta J, Ferreira A, Ferrari S, Fusaro M, Hansen D, Ketteler M, Lafage-Proust MH, Lalayiannis AD, Magnusson P, Mazzaferro S, Salam S, Shroff R, Cavalier E, Eastell R, Evenepoel P Nephrol Dial Transplant IF: 8.3 2026-06-30
The European Society of Pediatric Nephrology Board Examination-a certified benchmark of knowledge and clinical practice with global recognition.
Teixeira A, Stabouli S, Topaloglu R, Bayazit AK, Boyer O, Drozdz D, Shroff R, Christian M, Arslan Z, Bacchetta J, Harambat J, Printza N, Oni L, Erez DL, Platt C, Haffner D, Oh J, Levtchenko E Pediatr Nephrol IF: 2.5 2026-06-30
Comparative analysis of the cellular landscape in mammalian striatum.
Buyukkahraman G, Caglayan E, Hörpel SG, Zhang Y, van Tussenbroek IA, Orozco CG, Oh E, Hopkins WD, Sherwood CC, Roberts TF, Vernes SC, Konopka G Nat Commun IF: 12.124 2026-05-25

基因相关服务

基因相关服务

基因相关评论

基因相关评论

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: [email protected]

版权所有 © 2025.Genelibs 济南弘晖生物技术有限公司 鲁ICP备20007159号-2