GSDME - gasdermin E Gene

中文名称：gasdermin E

种属: Homo sapiens

同用名: DFNA5; ICERE-1

基因 ID: 1687 | 基因类型: protein coding

关于 GSDME

Cytogenetic location: 7p15.3 Genomic coordinates (GRCh38): 7:24,698,355-24,795,539 (from NCBI)

This gene has 14 transcripts (splice variants), 292 orthologues and is associated with 2 phenotypes. Broad expression in placenta (RPKM 18.9), small intestine (RPKM 11.1) and 19 other tissues.

功能概要

听力障碍是一种异质性疾病，描述了 40 多个位点。该基因编码的蛋白质在胎儿耳蜗中表达，但其功能尚不清楚。非综合征性听力障碍与该基因的突变有关。已发现该基因编码两种不同亚型的三种转录变体。[RefSeq 提供，2008 年 7 月]

Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GSDME 基因产物(3)

mRNA	Protein	Name
NM_001127453.2	NP_001120925.1	gasdermin-E isoform a
NM_001127454.2	NP_001120926.1	gasdermin-E isoform b
NM_004403.3	NP_004394.1	gasdermin-E isoform a

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables cardiolipin binding	IDA IDA: 通过直接分析推断	28459430	GOA
enables phosphatidylinositol-4,5-bisphosphate binding	IDA IDA: 通过直接分析推断	28459430	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	32296183	GOA
enables wide pore channel activity	IDA IDA: 通过直接分析推断	28459430	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cellular response to tumor necrosis factor	IDA IDA: 通过直接分析推断	28459430	GOA
involved in cellular response to virus	IDA IDA: 通过直接分析推断	28045099	GOA
involved in granzyme-mediated programmed cell death signaling pathway	IDA IDA: 通过直接分析推断	31953257	GOA
involved in negative regulation of cell population proliferation	IDA IDA: 通过直接分析推断	18223688	GOA
involved in positive regulation of MAPK cascade	IMP IMP: 通过突变表型推断	26236191	GOA
involved in positive regulation of immune response to tumor cell	IDA IDA: 通过直接分析推断	32188940	GOA
involved in positive regulation of intrinsic apoptotic signaling pathway	IDA IDA: 通过直接分析推断	21522185	GOA
involved in programmed cell death	IMP IMP: 通过突变表型推断	26236191	GOA
involved in pyroptotic cell death	IDA IDA: 通过直接分析推断	32188940	GOA
involved in pyroptotic inflammatory response	IDA IDA: 通过直接分析推断	28459430	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
is active in membrane	IDA IDA: 通过直接分析推断	28459430	GOA
located in membrane	IDA IDA: 通过直接分析推断	28045099	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	28459430	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

GSDME 蛋白结构

Gasdermin

0
100
200
300
400
496 a.a.

蛋白主名

其他名称

gasdermin-E

DFNA5, deafness associated tumor suppressor

GSDME 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	GSDME	O60443	TIFA	Homo sapiens	Q96CG3	Validated Y2H	32296183
种属内	GSDME	O60443	TIFA	Homo sapiens	Q96CG3	Y2H Array	32296183
种属内	GSDME	O60443	TIFA	Homo sapiens	Q96CG3	Y2H Prey Pooling	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

GSDME 抗体

目录号	产品名	应用	反应物种
HY-P80697	GSDME Antibody (YA398)	WB, IP	Human
HY-P86310	DFNA5 Antibody (YA6002)	WB, ICC/IF, IP, ELISA	Human, Mouse, Rat,

关联疾病

疾病名称

别名

Deafness, Autosomal Dominant 5

DFNA5	Autosomal Dominant Nonsyndromic Deafness 5
Autosomal Dominant Deafness 5	Deafness, Autosomal Dominant, 5
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 5	Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 5
Deafness, Autosomal Dominant, Type 5

Rare Genetic Deafness

Rare Genetic Hearing Loss

Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Deafness Type Dfna	Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna
Autosomal Dominant Isolated Sensorineural Deafness Type Dfna	Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna
Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna	Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna
Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna

Deafness, Autosomal Dominant 23

DFNA23	Autosomal Dominant Nonsyndromic Deafness 23
Autosomal Dominant Deafness 23	Deafness, Autosomal Dominant, 23
Deafness, Autosomal Dominant, Type 23

Deafness, Autosomal Dominant 9

DFNA9	Autosomal Dominant Nonsyndromic Deafness 9
Autosomal Dominant Deafness 9	Deafness, Autosomal Dominant, 9
Deafness, Autosomal Dominant, Type 9

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Deafness, Autosomal Dominant 28

DFNA28	Autosomal Dominant Nonsyndromic Deafness 28
Autosomal Dominant Deafness 28	Deafness, Autosomal Dominant, 28
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 28	Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 28
Deafness, Autosomal Dominant, Type 28

Deafness, Autosomal Dominant 59

DFNA59	Autosomal Dominant Nonsyndromic Deafness 59
Autosomal Dominant Deafness 59

Deafness, Autosomal Dominant 51

Chromosome 9q21.11 Duplication Syndrome	DFNA51
Autosomal Dominant Nonsyndromic Deafness 51	Autosomal Dominant Deafness 51
Deafness, Autosomal Dominant, Type 51

Deafness, Autosomal Dominant 4a

Deafness, Autosomal Dominant 4	DFNA4A
Dfna4	Autosomal Dominant Nonsyndromic Deafness 4a
Autosomal Dominant Deafness 4a	Deafness, Autosomal Dominant, 4a
Deafness Autosomal Dominant 4	Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 4
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 4	Deafness, Autosomal Dominant, Type 4a

Deafness, Autosomal Dominant 18

DFNA18	Autosomal Dominant Nonsyndromic Deafness 18
Autosomal Dominant Deafness 18

Holoprosencephaly 2

HPE2	Holoprosencephaly-2
Holoprosencephaly, Type 2

Deafness, Autosomal Dominant 15

DFNA15	Autosomal Dominant Nonsyndromic Deafness 15
Autosomal Dominant Deafness 15	Deafness, Autosomal Dominant, 15
Deafness, Autosomal Dominant, Type 15

Deafness, Autosomal Dominant 41

DFNA41	Autosomal Dominant Nonsyndromic Deafness 41
Autosomal Dominant Deafness 41	Deafness, Autosomal Dominant, 41
Deafness, Autosomal Dominant, Type 41

Deafness, Autosomal Dominant 21

DFNA21	Autosomal Dominant Nonsyndromic Deafness 21
Autosomal Dominant Deafness 21	Deafness, Autosomal Dominant, 21

Deafness, Autosomal Dominant 17

DFNA17	Autosomal Dominant Nonsyndromic Deafness 17
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17	Autosomal Dominant Deafness 17
Late-Onset Progressive Hereditary Hearing Impairment Due To Cochleosaccular Degeneration	Nonsyndromic Hereditary Deafness Dfna17
Deafness, Autosomal Dominant, 17	Cochleosaccular Degeneration
Deafness, Autosomal Dominant, Type 17	Cochleosaccular Degeneration Of The Inner Ear And Progressive Cataracts

Colorectal Cancer

Colon Cancer	Colorectal Carcinoma
Colon Carcinoma	Colorectal Cancer, Susceptibility To
Carcinoma Of Colon	CRC
Colorectal Cancer With Chromosomal Instability, Somatic	Colon Cancer, Somatic
Colon Cancer, Susceptibility To	Colonic Neoplasms
Colorectal Neoplasms	Colorectal Cancer, Somatic
Colon Cancer, Advanced, Somatic	Colonic Carcinoma
Colorectal Carcinomas	Colon Cancers
Colorectal Cancers	Cancer, Colorectal, Somatic
Cancer, Colon	Cancer, Colorectal, Susceptibility To
Colorectal Neoplasm	Colonic Neoplasm
Malignant Tumor Of Colon

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

疾病名称	别名
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

目录号	产品名	作用方式	纯度	是否罕见病
HY-B0621	Triclabendazole	Inhibitor	99.36%	是

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-111770	2-Bromohexadecanoic acid	Inhibitor	99.95%	否
HY-RS05858	GSDME Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS16846	Gsdme Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-B0621S	Triclabendazole-d3		/	否
HY-N15380	4,4′-Secalonic acid D		/	否
HY-P10939	Ac-DMLD-CMK	Inhibitor	/	否
HY-RS23287	Gsdme Rat Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	GSDME	RGD	RGD:727871
Bos taurus	GSDME	VGNC	VGNC:28019
Macaca mulatta	GSDME	VGNC	VGNC:73249
Canis familiaris	GSDME	VGNC	VGNC:39911
Mus musculus	GSDME	MGD	MGI:1889850
Felis catus	GSDME	VGNC	VGNC:62727
Others	GSDME	NCBI

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

GSDME - gasdermin E Gene

关于 GSDME

功能概要

GSDME 基因产物(3)

GSDME 蛋白结构

GSDME 蛋白互作信息

GSDME 抗体

关联疾病

直系同源

热门区域

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GSDME - gasdermin E Gene

关于 GSDME

功能概要

GSDME 基因产物(3)

GSDME 蛋白结构

GSDME 蛋白互作信息

GSDME 抗体

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z