2. Gene
  3. MTMR8 - myotubularin related protein 8 Gene

MTMR8 - myotubularin related protein 8 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品

中文名称：肌微管蛋白相关蛋白 8

种属: Homo sapiens

基因 ID: 55613 | 基因类型: protein coding

关于 MTMR8

Cytogenetic location: Xq11.2 Genomic coordinates (GRCh38): X:64,268,081-64,395,452 (from NCBI)

This gene has 4 transcripts (splice variants), 128 orthologues and 13 paralogues. Low expression observed in reference dataset.

功能概要

该基因编码肌微管蛋白相关家族的成员，是 MTMR6 亚组的一部分。家族成员是双特异性磷酸酶，编码的蛋白质包含磷酸肌醇结合域 (PID) 和 SET 相互作用域 (SID) 。在肌管性肌病中发现了其他家族成员的缺陷。[RefSeq 提供，2010 年 3 月]

This gene encodes a member of the myotubularin-related family and is part of the MTMR6 subgroup. Family members are dual-specificity phosphatases and the encoded protein contains a phosphoinositide-binding domain (PID) and a SET-interacting domain (SID). Defects in Other family members have been found in myotubular myopathic diseases. [provided by RefSeq, Mar 2010]

MTMR8 基因产物(1)

mRNA Protein Name
NM_017677.4 NP_060147.2 myotubularin-related protein 8
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 phosphatidylinositol-3,5-bisphosphate phosphatase activity IDA
IDA: 通过直接分析推断
22647598 GOA
enables phosphatidylinositol-3-phosphate phosphatase activity IDA
IDA: 通过直接分析推断
22647598 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of autophagy IPI
IPI: 通过物理相互作用推断
22647598 GOA
involved in phosphatidylinositol dephosphorylation IDA
IDA: 通过直接分析推断
22647598 GOA
involved in regulation of macroautophagy IMP
IMP: 通过突变表型推断
32915229 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
16787938 GOA
located in nuclear envelope IDA
IDA: 通过直接分析推断
16787938 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
22647598 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

MTMR8 蛋白结构

Myotub-related

Myotub-related: Myotubularin-like phosphatase domain (108 - 449)

  • 0
  • 200
  • 400
  • 600
  • 704 a.a.
蛋白主名 其他名称

myotubularin-related protein 8

phosphatidylinositol-3,5-bisphosphate 3-phosphatase

MTMR8 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
MTMR8 Q96EF0 MTMR9 Homo sapiens Q96QG7
Y2H Array
31515488
种属内
MTMR8 Q96EF0 MTMR9 Homo sapiens Q96QG7
Anti Tag CoIP
27880917
种属内
MTMR8 Q96EF0 MTMR9 Homo sapiens Q96QG7
Y2H Array
29892012
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
Spastic Paraplegia 34, X-Linked

SPG34

Hereditary Spastic Paraplegia 34

X-Linked Spastic Paraplegia Type 34

X-Linked Spastic Paraplegia 34
Osteopathia Striata With Cranial Sclerosis

Hyperostosis Generalisata With Striations

Robinow-Unger Syndrome

OSCS

Osteopathia Striata Cranial Sclerosis

Osteopathia Striata-Cranial Sclerosis Syndrome

Horan-Beighton Syndrome

Os-Cs

Osteopathia Striata - Cranial Sclerosis

Voorhoeve Disease

Osc
Spastic Paraplegia 41, Autosomal Dominant

SPG41

Hereditary Spastic Paraplegia 41

Autosomal Dominant Spastic Paraplegia Type 41

Autosomal Dominant Spastic Paraplegia 41
Spastic Paraplegia 74, Autosomal Recessive

SPG74

Hereditary Spastic Paraplegia 74

Autosomal Recessive Spastic Paraplegia 74

Autosomal Recessive Spastic Paraplegia Type 74

Paraplegia, Spastic, Autosomal Recessive, Type 74
Spastic Paraplegia 81, Autosomal Recessive

SPG81

Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction

Autosomal Recessive Complex Spg Due To Kennedy Pathway Dysfunction

Hereditary Spastic Paraplegia 81

Spastic Paraplegia 81 Autosomal Recessive

Doid:0112349
Spastic Paraplegia 64, Autosomal Recessive

SPG64

Hereditary Spastic Paraplegia 64

Autosomal Recessive Spastic Paraplegia Type 64

Autosomal Recessive Spastic Paraplegia 64

Paraplegia, Spastic, Type 64, Autosomal Recessive
Spastic Paraplegia 36, Autosomal Dominant

SPG36

Hereditary Spastic Paraplegia 36

Autosomal Dominant Spastic Paraplegia Type 36

Autosomal Dominant Spastic Paraplegia 36
Spastic Paraplegia 9b, Autosomal Recessive

SPG9B

Autosomal Recessive Complex Spastic Paraplegia Type 9b

Hereditary Spastic Paraplegia 9b

Autosomal Recessive Spastic Paraplegia 9b

Autosomal Recessive Spastic Paraplegia Type 9b

Ar-Spg9b
Spastic Paraplegia 9a, Autosomal Dominant

Hereditary Spastic Paraplegia 9a

SPG9A

Cataracts With Motor Neuronopathy, Short Stature, And Skeletal Abnormalities

Ad-Spg9a

Spastic Paraparesis-Amyopathy-Cataracts-Gastroesophageal Reflux Syndrome

Spastic Paraparesis With Amyotrophy, Cataracts, And Gastroesophageal Reflux

Autosomal Dominant Complex Spastic Paraplegia Type 9a

Autosomal Dominant Spastic Paraplegia 9a

Cataracts Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome

Cataracts With Motor Neuronopathy, Short Stature And Skeletal Abnormalities

Spastic Paraparesis With Amyopathy, Cataracts And Gastroesophageal Reflux

Autosomal Dominant Spastic Paraplegia Type 9a

Cataracts-Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome

Spastic Paraparesis With Amyopathy, Cataracts, And Gastroesophageal Reflux

Spastic Paraplegia 9, Autosomal Dominant
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
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-RS08794 MTMR8 Human Pre-designed siRNA Set A Pre-designed Sets / 否
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