ELN基因详情-基因数据库-基因云馆

ELN (elastin)

symbol:: ELN
locus group:: protein-coding gene
location:: 7q11.23
gene_family:
alias symbol:: WBS|WS|SVAS
alias name:: tropoelastin|supravalvular aorti...
entrez id:: 2006
ensembl gene id:: ENSG00000049540
ucsc gene id:: uc003tzn.5
refseq accession:: NM_000501
hgnc_id:: HGNC:3327
approved reserved:: 1986-01-01

7q11.23

ELN基因编码弹性蛋白（elastin），这是一种关键的细胞外基质蛋白，主要赋予组织和器官弹性与回弹能力。弹性蛋白在肺、动脉、皮肤等需要反复伸展和收缩的组织中高度表达，通过与微纤维蛋白（如原纤维蛋白）结合形成弹性纤维网络。ELN基因突变会导致多种疾病，最常见的是威廉姆斯综合征（Williams-Beuren syndrome），表现为心血管异常（如主动脉瓣上狭窄）、结缔组织缺陷和认知障碍。此外，ELN突变还与皮肤松弛症（cutis laxa）和动脉瘤等疾病相关。ELN基因属于弹性纤维基因家族，该家族成员通常参与细胞外基质的结构和功能维持，共同特点是富含疏水性氨基酸（如缬氨酸和脯氨酸），并能形成交联网络以提供机械支撑。ELN过表达可能导致组织纤维化或异常增厚，而表达降低则会引起组织弹性丧失，例如肺气肿或动脉硬化。在血管系统中，ELN表达不足会促进平滑肌细胞异常增殖，增加动脉粥样硬化风险。ELN还通过调控TGF-β信号通路影响细胞行为，其表达异常可能破坏该通路的平衡，导致纤维化疾病或肿瘤微环境改变。由于弹性蛋白在发育后期合成率极低，ELN的损伤或突变往往造成不可逆的组织缺陷，凸显其在维持终身组织功能中的关键作用。

中文English

这个基因编码的蛋白质是弹性纤维的两个组分中的一个。所编码的蛋白质是富含疏水性氨基酸，如甘氨酸和脯氨酸，形成由赖氨酸残基之间的交联界移动的疏水区域。该基因缺失和突变与主动脉瓣狭窄（SVAS）和常染色体显性遗传皮肤松弛有关。已发现该基因编码不同亚型的多个抄本变形。 [由RefSeq的，2008年7月提供]

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

ELN基因的碱基序列：[NCBI]

Loading Gene Browser...

蛋白质序列

1MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG
41VFYPGAGLGA LGGGALGPGG KPLKPVPGGL AGAGLGAGLG
81
AFPAVTFPG ALVPGGVADA AAAYKAAKAG AGLGGVPGVG
121GLGVSAGAVV PQPGAGVKPG KVPGVGLPGV YPGGVLPGAR
161F
PGVGVLPG VPTGAGVKPK APGVGGAFAG IPGVGPFGGP
201QPGVPLGYPI KAPKLPGGYG LPYTTGKLPY GYGPGGVAGA
241AG
KAGYPTG TGVGPQAAAA AAAKAAAKFG AGAAGVLPGV
281GGAGVPGVPG AIPGIGGIAG VGTPAAAAAA AAAAKAAKYG
321AAA
GLVPGG PGFGPGVVGV PGAGVPGVGV PGAGIPVVPG
361AGIPGAAVPG VVSPEAAAKA AAKAAKYGAR PGVGVGGIPT
401YGVG
AGGFP GFGVGVGGIP GVAGVPGVGG VPGVGGVPGV
441GISPEAQAAA AAKAAKYGAA GAGVLGGLVP GAPGAVPGVP
481GTGGV
PGVG TPAAAAAKAA AKAAQFGLVP GVGVAPGVGV
521APGVGVAPGV GLAPGVGVAP GVGVAPGVGV APGIGPGGVA
561AAAKSA
AKV AAKAQLRAAA GLGAGIPGLG VGVGVPGLGV
601GAGVPGLGVG AGVPGFGAGA DEGVRRSLSP ELREGDPSSS
641QHLPSTP
SS PRVPGALAAA KAAKYGAAVP GVLGGLGALG
681GVGIPGGVVG AGPAAAAAAA KAAAKAAQFG LVGAAGLGGL
721GVGGLGVP
G VGGLGGIPPA AAAKAAKYGA AGLGGVLGGA
761GQFPLGGVAA RPGFGLSPIF PGGACLGKAC GRKRK

结构预测来自 AlphaFold DB（UniProt: P15502），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

ELN基因的碱基突变：仅显示部分snp

rs8326 rs810554 rs810555 rs810556 rs868005 rs870424 rs873647 rs884843 rs1859761 rs1859763 rs2071307 rs2229427 rs2239691 rs2286257 rs2301994 rs2301995 rs2356532

ELN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

GGAGGCATTCCTACTTACG

57

GAACTAACCCGTACTTGGC

58

GGAGGCATTCCTACTTACG

57

GAACTAACCCGTACTTGGC

58

GTTGTGTCACCAGAAGCAG

59

GTAGGAATGCCTCCAACTC

58

AACCTCTTAAGCCAGTTCCC

60

CTTTATAGGCTGCAGCAGC

59

CTGCCAGGTGTATACCCAG

60

AAAGCTCCACCTACACCTG

59

GTTGTGTCACCAGAAGCAG

59

AGTAGGAATGCCTCCAACTC

59

CTGGAATCCCAGGAGTTGG

60

AGTTTCCCTGTGGTGTAGG

59

AACCTCTTAAGCCAGTTCCC

60

CTTTATAGGCTGCAGCAGC

59

AACCTCTTAAGCCAGTTCCC

60

CTTTATAGGCTGCAGCAGC

59

AACTGCCCTATGGCTATGG

59

CTCCAATTCCAGGAATTGCC

59

转录因子

影响基因

影响类型

参考文献链接（PubMed）

JUN

ELN

Unknown

12135766

ELN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

ELN基因的本体（GO）信息：

GO库代码

对应的蛋白质

来源代码

GO:0005201

B3KRT8 (UniProtKB)

IEA

GO:0005578

B3KRT8 (UniProtKB)

IEA

GO:0005201

E7EN51 (UniProtKB)

IEA

GO:0005578

E7EN51 (UniProtKB)

IEA

GO:0005201

E7EN65 (UniProtKB)

IEA

GO:0005578

E7EN65 (UniProtKB)

IEA

GO:0005201

E7ENM0 (UniProtKB)

IEA

GO:0005578

E7ENM0 (UniProtKB)

IEA

GO:0005201

E7ENW7 (UniProtKB)

IEA

GO:0005578

E7ENW7 (UniProtKB)

IEA

GO:0005201

E7EP82 (UniProtKB)

IEA

GO:0005578

E7EP82 (UniProtKB)

IEA

GO:0005201

E7ETP7 (UniProtKB)

IEA

GO:0005578

E7ETP7 (UniProtKB)

IEA

GO:0005201

E7EWS8 (UniProtKB)

IEA

GO:0005578

E7EWS8 (UniProtKB)

IEA

GO:0001974

F8WAH6 (UniProtKB)

IEA

GO:0005578

F8WAH6 (UniProtKB)

IEA

GO:0005615

F8WAH6 (UniProtKB)

IEA

GO:0005739

F8WAH6 (UniProtKB)

IEA

GO:0007519

F8WAH6 (UniProtKB)

IEA

GO:0007568

F8WAH6 (UniProtKB)

IEA

GO:0030023

F8WAH6 (UniProtKB)

IEA

GO:0030198

F8WAH6 (UniProtKB)

IEA

GO:0030833

F8WAH6 (UniProtKB)

IEA

GO:0035904

F8WAH6 (UniProtKB)

IEA

GO:0036270

F8WAH6 (UniProtKB)

IEA

GO:0043149

F8WAH6 (UniProtKB)

IEA

GO:0044344

F8WAH6 (UniProtKB)

IEA

GO:0050840

F8WAH6 (UniProtKB)

IEA

GO:0055093

F8WAH6 (UniProtKB)

IEA

GO:0071280

F8WAH6 (UniProtKB)

IEA

GO:0071298

F8WAH6 (UniProtKB)

IEA

GO:0071300

F8WAH6 (UniProtKB)

IEA

GO:0071456

F8WAH6 (UniProtKB)

IEA

GO:0071549

F8WAH6 (UniProtKB)

IEA

GO:0071560

F8WAH6 (UniProtKB)

IEA

GO:0071953

F8WAH6 (UniProtKB)

IEA

GO:0005201

G3V0G6 (UniProtKB)

IEA

GO:0005578

G3V0G6 (UniProtKB)

IEA

GO:0005201

G5E950 (UniProtKB)

IEA

GO:0005578

G5E950 (UniProtKB)

IEA

GO:0005201

P15502 (UniProtKB)

IEA

GO:0005515

P15502 (UniProtKB)

IPI

GO:0005515

P15502 (UniProtKB)

IPI

GO:0005515

P15502 (UniProtKB)

IPI

GO:0005515

P15502 (UniProtKB)

IPI

GO:0005515

P15502 (UniProtKB)

IPI

GO:0005576

P15502 (UniProtKB)

TAS

GO:0005576

P15502 (UniProtKB)

TAS

GO:0005576

P15502 (UniProtKB)

TAS

GO:0005576

P15502 (UniProtKB)

TAS

GO:0005576

P15502 (UniProtKB)

TAS

GO:0005576

P15502 (UniProtKB)

TAS

GO:0005576

P15502 (UniProtKB)

TAS

GO:0005576

P15502 (UniProtKB)

TAS

GO:0005578

P15502 (UniProtKB)

IEA

GO:0007585

P15502 (UniProtKB)

TAS

GO:0008015

P15502 (UniProtKB)

TAS

GO:0008015

P15502 (UniProtKB)

TAS

GO:0008283

P15502 (UniProtKB)

TAS

GO:0009887

P15502 (UniProtKB)

TAS

GO:0022617

P15502 (UniProtKB)

TAS

GO:0030198

P15502 (UniProtKB)

TAS

GO:0071953

P15502 (UniProtKB)

IDA

GO:0071953

P15502 (UniProtKB)

IDA

可能调控 ELN基因的相关microRNA：

hsa-miR-29a hsa-miR-29a* hsa-miR-29c hsa-miR-29c*

String

BioGrid

IntAct

mentha

MINT

Reactome

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关联基因	作用方式	资源库来源/分值

KEGG
Reactomepathway

名称
4974 Protein digestion and absorption [PATH:hsa04974]

名称
Elastic fibre formation
Extracellular matrix organization

疾病名称

关系值

NofPmids

NofSnps

来源

疾病名称	关系值	NofPmids	NofSnps	来源
Supravalvular aortic stenosis	0.378120592	48	24	BeFree_CLINVAR_CTD_human_GAD_LHGDN_ORPHANET
Williams Syndrome	0.27816114	85	0	BeFree_CTD_human_GAD_LHGDN_ORPHANET
Cutis Laxa, Autosomal Dominant	0.241628651	6	1	BeFree_CLINVAR_ORPHANET
Cutis Laxa	0.130877538	21	0	BeFree_CTD_human_LHGDN
Hypertensive disease	0.125081451	11	0	BeFree_CTD_human_GAD
Pulmonary Fibrosis	0.120542884	3	0	BeFree_CTD_human
Congenital supravalvular aortic stenosis	0.120271442	1	0	BeFree_ORPHANET
Diaphragmatic Hernia	0.120271442	2	0	BeFree_CTD_human
Myocardial Ischemia	0.120271442	2	0	BeFree_CTD_human
CUTIS LAXA, AUTOSOMAL DOMINANT 1	0.12	0	0	CTD_human

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ELN (elastin)

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

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基因相关评论

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