MTMR4 - myotubularin related protein 4 Gene

中文名称：肌微管蛋白相关蛋白 4

种属: Homo sapiens

同用名: ZFYVE11; FYVE-DSP2

基因 ID: 9110 | 基因类型: protein coding

关于 MTMR4

Cytogenetic location: 17q22 Genomic coordinates (GRCh38): 17:58,489,537-58,519,047 (from NCBI)

This gene has 10 transcripts (splice variants), 226 orthologues and 13 paralogues. Ubiquitous expression in testis (RPKM 12.1), brain (RPKM 10.5) and 25 other tissues.

功能概要

启用蛋白磷酸酶结合活性。参与调节磷脂酰肌醇去磷酸化。位于核内体。 [由基因组资源联盟提供，2022 年 4 月]

Enables protein Phosphatase binding activity. Involved in regulation of phosphatidylinositol dephosphorylation. Located in endosome. [provided by Alliance of Genome Resources, Apr 2022]

MTMR4 基因产物(3)

mRNA	Protein	Name
NM_001378066.1	NP_001364995.1	myotubularin-related protein 4 isoform 2
NM_001378067.1	NP_001364996.1	myotubularin-related protein 4 isoform 3
NM_004687.5	NP_004678.3	myotubularin-related protein 4 isoform 1

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 R-SMAD binding	IDA IDA: 通过直接分析推断	23150675	GOA
enables molecular adaptor activity	IDA IDA: 通过直接分析推断	25659891	GOA
enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IDA IDA: 通过直接分析推断	20736309	GOA
enables phosphatidylinositol-3-phosphate phosphatase activity	IDA IDA: 通过直接分析推断	11302699	GOA
enables phosphatidylinositol-3-phosphate phosphatase activity	IMP IMP: 通过突变表型推断	31543504	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	20061380	GOA
enables protein phosphatase binding	IPI IPI: 通过物理相互作用推断	16787938	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in midbody abscission	IMP IMP: 通过突变表型推断	25659891	GOA
involved in negative regulation of BMP signaling pathway	IMP IMP: 通过突变表型推断	23150675	GOA
involved in negative regulation of endocytic recycling	IMP IMP: 通过突变表型推断	20736309	GOA
involved in negative regulation of transforming growth factor beta receptor signaling pathway	IMP IMP: 通过突变表型推断	20061380	GOA
involved in phagosome maturation	IMP IMP: 通过突变表型推断	31543504	GOA
involved in phosphatidylinositol dephosphorylation	IDA IDA: 通过直接分析推断	16787938	GOA
involved in phosphatidylinositol dephosphorylation	IMP IMP: 通过突变表型推断	20736309	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in early endosome membrane	IDA IDA: 通过直接分析推断	20736309	GOA
is active in early phagosome membrane	IDA IDA: 通过直接分析推断	31543504	GOA
is active in endosome membrane	IDA IDA: 通过直接分析推断	16787938	GOA
located in late endosome membrane	IDA IDA: 通过直接分析推断	29962048	GOA
located in membrane	IDA IDA: 通过直接分析推断	11302699	GOA
located in recycling endosome membrane	IDA IDA: 通过直接分析推断	20736309	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

MTMR4 蛋白结构

Myotub-related

FYVE

0
200
400
600
800
1000
1195 a.a.

蛋白主名

其他名称

myotubularin-related protein 4

FYVE domain-containing dual specificity protein phosphatase 2

MTMR4 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	MTMR4	Q9NYA4	SMAD3	Homo sapiens	P84022	Anti Bait CoIP	20061380

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Charcot-Marie-Tooth Disease, Recessive Intermediate C

Charcot-Marie-Tooth Disease Recessive Intermediate C	CMTRIC
Ri-Cmtc	Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type C
Ri-Cmt Type C	Charcot-Marie-Tooth Neuropathy, Recessive Intermediate C
Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, C	Charcot-Marie-Tooth Neuropathy Recessive Intermediate C

Charcot-Marie-Tooth Disease, Dominant Intermediate E

CMTDIE	Charcot-Marie-Tooth Disease Dominant Intermediate E
Charcot-Marie-Tooth Neuropathy With Focal Segmental Glomerulonephritis	Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type E
Charcot-Marie-Tooth Disease-Nephropathy Syndrome	Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, E
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type E

Mulibrey Nanism

MUL	Muscle-Liver-Brain-Eye Nanism
Pericardial Constriction And Growth Failure	Perheentupa Syndrome
Mulibrey Growth Disorder	Mulibrey Nanism Syndrome
Pericardial Constriction With Growth Failure	Nanism Mulibrey

Congenital Muscular Dystrophy-Dystroglycanopathy Type A12

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A12	Mddga12
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Pomk-Related

Brown-Vialetto-Van Laere Syndrome 2

BVVLS2	Rfvt3-Related Riboflavin Transporter Deficiency
Rtd3	Riboflavin Transporter Deficiency 3
Brown-Vialetto-Van Laere Syndrome, Type 2

Charcot-Marie-Tooth Disease, Axonal, Type 2t

CMT2T	Charcot-Marie-Tooth Disease Axonal Type 2t
Charcot-Marie-Tooth Neuropathy, Type 2t	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2t
Ar-Cmt2t	Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2t
Mme-Related Autosomal Dominant Charcot Marie Tooth Disease Type 2	Charcot-Marie-Tooth Neuropathy Type 2t
Charcot-Marie-Tooth Disease Type 2t	Mme-Related Autosomal Dominant Cmt2
Mme-Related Autosomal Dominant Hereditary Motor And Sensory Neuropathy Type 2	Charcot-Marie-Tooth Disease 2t
Charcot-Marie-Tooth Neuropathy Axonal Type 2t

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4

FTDALS4	Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-4
Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis, Type 4

Myopathy, Centronuclear, X-Linked

X-Linked Myotubular Myopathy	Xlmtm
X-Linked Centronuclear Myopathy	Xlcnm
CNMX	Mtm1
Myotubular Myopathy, X-Linked	Mtmx
Myotubular Myopathy 1	Centronuclear Myopathy X-Linked
Myotubular Myopathy	Mtm
Cnm	Xmtm
Myotubular Myopathy Type 1

Charcot-Marie-Tooth Disease, Type 4b3

Charcot-Marie-Tooth Disease Type 4b3	CMT4B3
Charcot-Marie-Tooth Disease With Focally Folded Myelin	Charcot-Marie-Tooth Disease 4b3
Charcot-Marie-Tooth Neuropathy Type 4b3

Long Qt Syndrome

Romano-Ward Syndrome	Long Q-T Syndrome
Lqt	Qt Syndrome, Long
Congenital Long Qt Syndrome	Familial Long Qt Syndrome

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2	CMT2E
CMT2S	CMT2Y
Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Disease Type 2y
Charcot-Marie-Tooth Disease Axonal Type 2s	Charcot-Marie-Tooth Disease, Axonal, Type 2s
Charcot-Marie-Tooth Disease, Type 2e	Hereditary Motor And Sensory Neuropathy Type 2
Charcot-Marie-Tooth Neuropathy, Type 2s	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
Charcot-Marie-Tooth Disease, Axonal, Type 2y	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
Charcot-Marie-Tooth Neuropathy, Type 2y	Charcot-Marie-Tooth Disease, Type 2y
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Neuropathy Type 2e
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation	Cmt2 Due To Vcp Mutation
Charcot-Marie-Tooth Disease Type 2s	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease	Cmt2
Charcot-Marie-Tooth Neuropathy, Type 2e	Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
Hereditary Motor And Sensory Neuropathy Okinawa Type	Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
Charcot-Marie-Tooth Neuropathy Type 2y	Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
Charcot-Marie-Tooth Neuropathy Type 2s	Charcot-Marie-Tooth Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y	Charcot-Marie-Tooth Disease 2e
Charcot-Marie-Tooth Disease Axonal Type 2e	Charcot-Marie-Tooth Disease Neuronal Type 2e
Charcot-Marie-Tooth Disease 2s	Charcot-Marie-Tooth Neuropathy Axonal Type 2s
Charcot-Marie-Tooth Disease 2y	Charcot-Marie-Tooth Disease, Type 2
Hereditary Motor And Sensory-Neuropathy Type Ii

Centronuclear Myopathy

Myopathy, Centronuclear	Myotubular Myopathy
Cnm	Myopathy, Myotubular
Congenital Structural Myopathy

Three M Syndrome 1

3-M Syndrome	Yakut Short Stature Syndrome
3m Syndrome	Le Merrer Syndrome
Dolichospondylic Dysplasia	Gloomy Face Syndrome
Three M Syndrome	3M1
3m Syndrome 1	Miller-Mckusick-Malvaux Syndrome
3-Msbn	Three-M Slender-Boned Nanism
Miller-Mckusick-Malvaux-Syndrome	3-M Syndrome 1
3m Syndrome-1	3m Syndrome, Type 1
Dwarfism	Dwarfism Tall Vertebrae

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS08791	MTMR4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	MTMR4	VGNC	VGNC:43485
Bos taurus	MTMR4	VGNC	VGNC:31743
Felis catus	MTMR4	VGNC	VGNC:68348
Mus musculus	MTMR4	MGD	MGI:2180699
Rattus norvegicus	MTMR4	RGD	RGD:1310306
Macaca mulatta	MTMR4	VGNC	VGNC:99174

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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）

MTMR4 - myotubularin related protein 4 Gene

关于 MTMR4

功能概要

MTMR4 基因产物(3)

MTMR4 蛋白结构

MTMR4 蛋白互作信息

关联疾病

直系同源

热门区域

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MTMR4 - myotubularin related protein 4 Gene

关于 MTMR4

功能概要

MTMR4 基因产物(3)

MTMR4 蛋白结构

MTMR4 蛋白互作信息

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