2. Gene
  3. TOM1L2 - target of myb1 like 2 membrane trafficking protein Gene

TOM1L2 - target of myb1 like 2 membrane trafficking protein Gene

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

中文名称：myb1 的目标样 2 膜运输蛋白

种属: Homo sapiens

基因 ID: 146691 | 基因类型: protein coding

关于 TOM1L2

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:17,843,511-17,972,400 (from NCBI)

This gene has 14 transcripts (splice variants), 288 orthologues and 10 paralogues. Broad expression in heart (RPKM 43.2), brain (RPKM 27.4) and 23 other tissues.

功能概要

该基因属于一个小基因家族，其成员有一个 N 端 VHS 结构域和一个 GAT 结构域；通常参与囊泡运输的域。由该基因编码的典型蛋白质也有一个 C 端网格蛋白结合基序。这种蛋白质已被证明与 Tollip、网格蛋白和泛素相互作用，并被认为在内体分选中发挥作用。该基因位于与 Smith-Magenis 综合征相关的染色体区域 17p11.2 的 3.7 Mb 缺失处。可变剪接导致编码不同蛋白质的多个转录变体。[RefSeq 提供，2017 年 4 月]

This gene belongs to a small gene family whose members have an N-terminal VHS domain followed by a GAT domain; domains which typically participate in vesicular trafficking. The canonical protein encoded by this gene also has a C-terminal clathrin binding motif. This protein has been shown to interact with Tollip, clathrin and ubiquitin and is thought to play a role in endosomal sorting. This gene resides in the 3.7 Mb deletion of chromosome region 17p11.2 that is associated with Smith-Magenis syndrome. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Apr 2017]

TOM1L2 基因产物(9)

mRNA Protein Name
NM_001033551.3 NP_001028723.1 TOM1-like protein 2 isoform 1
NM_001082968.2 NP_001076437.1 TOM1-like protein 2 isoform 3
NM_001288786.2 NP_001275715.1 TOM1-like protein 2 isoform 4
NM_001288787.2 NP_001275716.1 TOM1-like protein 2 isoform 5
NM_001288788.2 NP_001275717.1 TOM1-like protein 2 isoform 6
NM_001288789.2 NP_001275718.1 TOM1-like protein 2 isoform 7
NM_001350331.2 NP_001337260.1 TOM1-like protein 2 isoform 8
NM_001350332.2 NP_001337261.1 TOM1-like protein 2 isoform 9
NM_001350333.2 NP_001337262.1 TOM1-like protein 2 isoform 10
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 clathrin binding IDA
IDA: 通过直接分析推断
16412388 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16412388 GOA
enables protein kinase binding IPI
IPI: 通过物理相互作用推断
16479011 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of mitotic nuclear division IDA
IDA: 通过直接分析推断
16479011 GOA
involved in signal transduction IDA
IDA: 通过直接分析推断
16479011 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

TOM1L2 蛋白结构

VHS

VHS: VHS domain (8 - 148)

GAT

GAT: GAT domain (217 - 313)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 507 a.a.
蛋白主名 其他名称

TOM1-like protein 2

target of Myb-like protein 2

TOM1L2 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
TOM1L2 Q6ZVM7 TOLLIP Homo sapiens Q9H0E2
Anti Tag CoIP
33961781
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
Smith-Magenis Syndrome

SMS

Chromosome 17p11.2 Deletion Syndrome

17p11.2 Microdeletion Syndrome

17p11.2 Monosomy

Chromosome 17p Deletion Syndrome

Del(17)

P11.2

17p- Syndrome

Deletion 17p Syndrome

Partial Monosomy 17p
Patella, Chondromalacia Of

Chondromalacia Patellae

Chondromalacia Of Patella

Softening Of Articular Cartilage Of Patella

Patellofemoral Pain Syndrome

Patellofemoral Chondromalacia
Immunodeficiency 73a With Defective Neutrophil Chemotaxis And Leukocytosis

Neutrophil Immunodeficiency Syndrome

IMD73A

Immunodeficiency 73a With Defective Neutrophil Chemotaxix And Leukocytosis

Immunodeficiency, Type 73a, With Defective Neutrophil Chemotaxix And Leukocytosis

Rac 2 Deficiency
Retinitis Pigmentosa 39

RP39

Retinitis Pigmentosa, Type 39
Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency

Nadh:Q(1) Oxidoreductase Deficiency

MC1DN1

Nadh-Coenzyme Q Reductase Deficiency

Isolated Mitochondrial Respiratory Chain Complex I Deficiency

Isolated Nadh-Coenzyme Q Reductase Deficiency

Isolated Nadh-Coq Reductase Deficiency

Isolated Nadh-Ubiquinone Reductase Deficiency

Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

Nuclear Type Mitochondrial Complex I Deficiency 1

Isolated Complex I Deficiency

Complex 1 Mitochondrial Respiratory Chain Deficiency

Nadh Coenzyme Q Reductase Deficiency

Complex I Mitochondrial Respiratory Chain Deficiency

Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

Nadh:Ubiquinone Oxidoreductase Deficiency

Complex I, Mitochondrial Respiratory Chain, Deficiency Of
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-RS14878 TOM1L2 Human 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 TOM1L2 RGD RGD:1306728
Canis familiaris TOM1L2 VGNC VGNC:47709
Bos taurus TOM1L2 VGNC VGNC:36219
Macaca mulatta TOM1L2 VGNC VGNC:78617
Mus musculus TOM1L2 MGD MGI:2443306
Felis catus TOM1L2 VGNC VGNC:66442
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