2. Gene
  3. MBNL2 - muscleblind like splicing regulator 2 Gene

MBNL2 - muscleblind like splicing regulator 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：肌盲样剪接调节器 2

种属: Homo sapiens

同用名: MBLL; MBLL39; PRO2032

基因 ID: 10150 | 基因类型: protein coding

关于 MBNL2

Cytogenetic location: 13q32.1 Genomic coordinates (GRCh38): 13:97,141,834-97,394,120 (from NCBI)

This gene has 11 transcripts (splice variants), 270 orthologues and 3 paralogues. Ubiquitous expression in fat (RPKM 36.8), adrenal (RPKM 33.8) and 25 other tissues.

功能概要

该基因是最初在黑腹果蝇中描述的肌盲蛋白家族的成员。该基因编码一种 C3H 型锌指蛋白，可调节前体 mRNA 的选择性剪接。 Muscleblind 蛋白特异性结合扩增的 dsCUG RNA，但不结合正常大小的 CUG 重复序列，因此可能在强直性肌营养不良的病理生理学中发挥作用。已经描述了几种选择性剪接的转录本变体，但只有一些的全长性质已经确定。[RefSeq 提供，2012 年 3 月]

This gene is a member of the muscleblind protein family which was initially described in Drosophila melanogaster. This gene encodes a C3H-type Zinc Finger Protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. [provided by RefSeq, Mar 2012]

MBNL2 基因产物(45)

mRNA Protein Name
NM_001306070.2 NP_001292999.1 muscleblind-like protein 2 isoform 4
NM_001382649.1 NP_001369578.1 muscleblind-like protein 2 isoform 1
NM_001382650.1 NP_001369579.1 muscleblind-like protein 2 isoform 1
NM_001382651.1 NP_001369580.1 muscleblind-like protein 2 isoform 3
NM_001382652.1 NP_001369581.1 muscleblind-like protein 2 isoform 3
NM_001382653.1 NP_001369582.1 muscleblind-like protein 2 isoform 3
NM_001382654.1 NP_001369583.1 muscleblind-like protein 2 isoform 3
NM_001382656.1 NP_001369585.1 muscleblind-like protein 2 isoform 3
NM_001382660.1 NP_001369589.1 muscleblind-like protein 2 isoform 3
NM_001382661.1 NP_001369590.1 muscleblind-like protein 2 isoform 3
NM_001382663.1 NP_001369592.1 muscleblind-like protein 2 isoform 3
NM_001382666.1 NP_001369595.1 muscleblind-like protein 2 isoform 4
NM_001382667.1 NP_001369596.1 muscleblind-like protein 2 isoform 4
NM_001382668.1 NP_001369597.1 muscleblind-like protein 2 isoform 4
NM_001382669.1 NP_001369598.1 muscleblind-like protein 2 isoform 5
NM_001382670.1 NP_001369599.1 muscleblind-like protein 2 isoform 5
NM_001382671.1 NP_001369600.1 muscleblind-like protein 2 isoform 6
NM_001382672.1 NP_001369601.1 muscleblind-like protein 2 isoform 6
NM_001382673.1 NP_001369602.1 muscleblind-like protein 2 isoform 6
NM_001382674.1 NP_001369603.1 muscleblind-like protein 2 isoform 7
NM_001382675.1 NP_001369604.1 muscleblind-like protein 2 isoform 7
NM_001382676.1 NP_001369605.1 muscleblind-like protein 2 isoform 7
NM_001382677.1 NP_001369606.1 muscleblind-like protein 2 isoform 8
NM_001382678.1 NP_001369607.1 muscleblind-like protein 2 isoform 8
NM_001382679.1 NP_001369608.1 muscleblind-like protein 2 isoform 8
NM_001382680.1 NP_001369609.1 muscleblind-like protein 2 isoform 8
NM_001382681.1 NP_001369610.1 muscleblind-like protein 2 isoform 9
NM_001382682.1 NP_001369611.1 muscleblind-like protein 2 isoform 25
NM_001382683.1 NP_001369612.1 muscleblind-like protein 2 isoform 10
NM_001382684.1 NP_001369613.1 muscleblind-like protein 2 isoform 11
NM_001382685.1 NP_001369614.1 muscleblind-like protein 2 isoform 12
NM_001382686.1 NP_001369615.1 muscleblind-like protein 2 isoform 13
NM_001382687.1 NP_001369616.1 muscleblind-like protein 2 isoform 14
NM_001382688.1 NP_001369617.1 muscleblind-like protein 2 isoform 15
NM_001382689.1 NP_001369618.1 muscleblind-like protein 2 isoform 16
NM_001382690.1 NP_001369619.1 muscleblind-like protein 2 isoform 17
NM_001382691.1 NP_001369620.1 muscleblind-like protein 2 isoform 18
NM_001382692.1 NP_001369621.1 muscleblind-like protein 2 isoform 19
NM_001382693.1 NP_001369622.1 muscleblind-like protein 2 isoform 20
NM_001382694.1 NP_001369623.1 muscleblind-like protein 2 isoform 21
NM_001382695.1 NP_001369624.1 muscleblind-like protein 2 isoform 22
NM_001382696.1 NP_001369625.1 muscleblind-like protein 2 isoform 23
NM_001382697.1 NP_001369626.1 muscleblind-like protein 2 isoform 24
NM_144778.4 NP_659002.1 muscleblind-like protein 2 isoform 1
NM_207304.3 NP_997187.1 muscleblind-like protein 2 isoform 3
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
32296183 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 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

MBNL2 蛋白结构

zf-CCCH

zf-CCCH: Zinc finger C-x8-C-x5-C-x3-H type (and similar) (178 - 202)

  • 0
  • 100
  • 200
  • 300
  • 373 a.a.
蛋白主名 其他名称

muscleblind-like protein 2

muscleblind-like 2

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
Huntington Disease-Like 2

HDL2

Huntington'S Disease-Like 2

Huntington Disease-Like, Type 2
Spinocerebellar Ataxia 8

Spinocerebellar Ataxia Type 8

SCA8

Ataxia, Spinocerebellar, Type 8
X-Linked Hereditary Ataxia
Fragile X-Associated Tremor/Ataxia Syndrome

Fxtas Syndrome

Fragile X Tremor/Ataxia Syndrome

Fxtas
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
Lens Disease

Lens Diseases
Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS08191 MBNL2 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus MBNL2 VGNC VGNC:31284
Mus musculus MBNL2 MGD MGI:2145597
Canis familiaris MBNL2 VGNC VGNC:43058
Macaca mulatta MBNL2 VGNC VGNC:74519
Felis catus MBNL2 VGNC VGNC:63401
Rattus norvegicus MBNL2 RGD RGD:1591755
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