MBNL3 - muscleblind like splicing regulator 3 Gene

中文名称：肌盲样剪接调节器 3

种属: Homo sapiens

同用名: CHCR; MBLX; MBXL; MBLX39

基因 ID: 55796 | 基因类型: protein coding

关于 MBNL3

Cytogenetic location: Xq26.2 Genomic coordinates (GRCh38): X:132,369,320-132,490,035 (from NCBI)

This gene has 14 transcripts (splice variants), 201 orthologues and 3 paralogues. Broad expression in placenta (RPKM 21.9), testis (RPKM 7.6) and 16 other tissues.

功能概要

该基因编码类肌盲蛋白家族的成员。编码的蛋白质可能在可变剪接的调节中发挥作用，并可能在强直性肌营养不良的病理生理学中发挥作用。已经描述了选择性剪接的转录物变体。[RefSeq 提供，2009 年 12 月]

This gene encodes a member of the muscleblind-like family of proteins. The encoded protein may function in regulation of alternative splicing and may play a role in the pathophysiology of myotonic dystrophy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009]

MBNL3 基因产物(28)

mRNA	Protein	Name
NM_001170701.3	NP_001164172.2	muscleblind-like protein 3 isoform 5
NM_001170702.3	NP_001164173.2	muscleblind-like protein 3 isoform 10
NM_001170703.2	NP_001164174.1	muscleblind-like protein 3 isoform 5
NM_001170704.2	NP_001164175.1	muscleblind-like protein 3 isoform 5
NM_001386889.1	NP_001373818.1	muscleblind-like protein 3 isoform 1
NM_001386891.1	NP_001373820.1	muscleblind-like protein 3 isoform 6
NM_001386892.1	NP_001373821.1	muscleblind-like protein 3 isoform 6
NM_001386894.1	NP_001373823.1	muscleblind-like protein 3 isoform 1
NM_001386896.1	NP_001373825.1	muscleblind-like protein 3 isoform 1
NM_001386897.1	NP_001373826.1	muscleblind-like protein 3 isoform 1
NM_001386898.1	NP_001373827.1	muscleblind-like protein 3 isoform 7
NM_001386899.1	NP_001373828.1	muscleblind-like protein 3 isoform 7
NM_001386900.1	NP_001373829.1	muscleblind-like protein 3 isoform 8
NM_001386901.1	NP_001373830.1	muscleblind-like protein 3 isoform 8
NM_001386902.1	NP_001373831.1	muscleblind-like protein 3 isoform 8
NM_001386907.1	NP_001373836.1	muscleblind-like protein 3 isoform 8
NM_001386909.1	NP_001373838.1	muscleblind-like protein 3 isoform 9
NM_001386910.1	NP_001373839.1	muscleblind-like protein 3 isoform 5
NM_001386911.1	NP_001373840.1	muscleblind-like protein 3 isoform 5
NM_001386912.1	NP_001373841.1	muscleblind-like protein 3 isoform 5
NM_001386913.1	NP_001373842.1	muscleblind-like protein 3 isoform 5
NM_001386914.1	NP_001373843.1	muscleblind-like protein 3 isoform 10
NM_001386915.1	NP_001373844.1	muscleblind-like protein 3 isoform 10
NM_001386916.1	NP_001373845.1	muscleblind-like protein 3 isoform 11
NM_001386917.1	NP_001373846.1	muscleblind-like protein 3 isoform 12
NM_001386918.1	NP_001373847.1	muscleblind-like protein 3 isoform 13
NM_018388.4	NP_060858.2	muscleblind-like protein 3 isoform 1
NM_133486.4	NP_597846.1	muscleblind-like protein 3 isoform 2

基因本体论

分子功能
生物过程

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	25416956	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in regulation of RNA splicing	IDA IDA: 通过直接分析推断	15257297	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

蛋白主名

其他名称

muscleblind-like protein 3

Cys3His CCG1-required protein

MBNL3 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	MBNL3	Q9NUK0	DAB1	Homo sapiens	O75553	Validated Y2H	25416956

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

Myotonic Dystrophy 1

Myotonic Dystrophy	Dystrophia Myotonica
Steinert Disease	Myotonic Dystrophy Type 1
Myotonia Atrophica	DM1
Congenital Myotonic Dystrophy	Myotonia Dystrophica
Steinert Myotonic Dystrophy	Dystrophia Myotonica 1
Dm	Steinert'S Disease
Steinert Myotonic Dystrophy Syndrome	Myotonic Dystrophy Of Steinert
Dystrophia Myotonica Type 1	Myotonic Dystrophy Congenital
Dystrophy, Myotonic, Type 1	Dm - [Dystrophia Myotonica]
Myotonic Muscular Dystrophy

Myotonic Disease

Myotonic Disorders	Myotonic Syndrome
Symptomatic Myotonia

Corneal Endothelial Dystrophy

Congenital Hereditary Endothelial Dystrophy Of Cornea	Chandler Syndrome
CHED	Chandler'S Syndrome
Endothelial Corneal Dystrophy	Ched2
Maumenee Corneal Dystrophy	Corneal Dystrophy, Congenital Hereditary Endothelial
Dystrophy Of Corneal Endothelium	Corneal Endothelial Dystrophy 2
Corneal Endothelial Dystrophy 2, Autosomal Recessive, Formerly	Ched2, Formerly
Corneal Endothelial Dystrophy, Autosomal Recessive	Endothelial Dystrophy
Posterior Membrane Corneal Dystrophy	Corneal Endothelial Dystrophy Type 2
Congenital Hereditary Endothelial Dystrophy Of The Cornea	Congenital Hereditary Endothelial Dystrophy Type Ii
Autosomal Recessive Ched	Autosomal Recessive Congenital Hereditary Endothelial Dystrophy
Chedii	Congenital Hereditary Endothelial Dystrophy Type 2
Infantile Hereditary Endothelial Dystrophy	Congenital Hereditary Endothelial Corneal Dystrophy
Corneal Endothelial Dystrophy 2, Autosomal Recessive	Iridocorneal Endothelial Syndrome
Dystrophy, Corneal, Endothelial	Corneal Endothelial Dystrophy 1, Autosomal Dominant

Myotonic Dystrophy 2

Myotonic Dystrophy Type 2	Proximal Myotonic Myopathy
Promm	Ricker Syndrome
DM2	Dystrophia Myotonica 2
Myotonic Myopathy, Proximal	Myotonic Disorders
Dystrophia Myotonica Type 2	Proximal Myotonic Dystrophy
Ricker Disease	Myotonic Dystrophy, Type 2
Dystrophy, Myotonic, Type 2

Spinocerebellar Ataxia 8

Spinocerebellar Ataxia Type 8	SCA8
Ataxia, Spinocerebellar, Type 8

Fuchs' Endothelial Dystrophy

Fuchs Endothelial Corneal Dystrophy	Fuchs Endothelial Dystrophy
Fuchs Dystrophy	Fced
Fuchs' Corneal Dystrophy	Fuchs' Endothelial Corneal Dystrophy
Fuchs Atrophy	Fuchs Corneal Dystrophy
Endoepithelial Corneal Dystrophy	Fecd
Late Hereditary Endothelial Dystrophy	Corneal Dystrophy, Fuchs Endothelial
Dystrophy, Corneal, Fuchs Endothelial	Corneal Dystrophy, Fuchs' Endothelial, 1

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-RS08192	MBNL3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	MBNL3	VGNC	VGNC:74546
Felis catus	MBNL3	VGNC	VGNC:63402
Bos taurus	MBNL3	VGNC	VGNC:31285
Rattus norvegicus	MBNL3	RGD	RGD:1565834
Mus musculus	MBNL3	MGD	MGI:2444912
Canis familiaris	MBNL3	VGNC	VGNC:43059

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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）

MBNL3 - muscleblind like splicing regulator 3 Gene

关于 MBNL3

功能概要

MBNL3 基因产物(28)

MBNL3 蛋白互作信息

关联疾病

直系同源

热门区域

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MBNL3 - muscleblind like splicing regulator 3 Gene

关于 MBNL3

功能概要

MBNL3 基因产物(28)

MBNL3 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