1. Gene
  2. TM6SF2 - transmembrane 6 superfamily member 2 Gene

TM6SF2 - transmembrane 6 superfamily member 2 Gene

中文名称:跨膜 6 超家族成员 2

种属: Homo sapiens

基因 ID: 53345 | 基因类型: protein coding

关于 TM6SF2

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:19,264,366-19,273,301 (from NCBI)

This gene has 5 transcripts (splice variants), 118 orthologues and 1 paralogue. Biased expression in duodenum (RPKM 49.9), small intestine (RPKM 45.9) and 1 other tissue.

功能概要

实现相同的蛋白质结合活性。参与脂质代谢过程的调节。位于内质网膜和内质网-高尔基体间室膜。 [由基因组资源联盟提供,2022 年 4 月]

Enables identical protein binding activity. Involved in regulation of lipid metabolic process. Located in endoplasmic reticulum membrane and endoplasmic reticulum-Golgi intermediate compartment membrane. [provided by Alliance of Genome Resources, Apr 2022]

TM6SF2 基因产物(1)

mRNA Protein Name
NM_001001524.3 NP_001001524.2 transmembrane 6 superfamily member 2
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 identical protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of lipid metabolic process IDA
IDA: 通过直接分析推断
24927523 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
24927523 GOA
located in endoplasmic reticulum-Golgi intermediate compartment membrane IDA
IDA: 通过直接分析推断
24927523 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

TM6SF2 蛋白结构

DUF2781

DUF2781: Protein of unknown function (DUF2781) (218 - 357)

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

transmembrane 6 superfamily member 2

关联疾病

疾病名称 别名
Non-Alcoholic Fatty Liver Disease

Fatty Liver

Non-Alcoholic Fatty Liver

Nafld

Nonalcoholic Fatty Liver Disease

Nonalcoholic Steatohepatitis

Steatosis

Nafl

Nash

Non-Alcoholic Steatohepatitis

Susceptibility To Nonalcoholic Fatty Liver Disease

Steatohepatitis

Fatty Degeneration

Non-Alcoholic Fatty Liver Disease Without Mention Of Non-Alcoholic Steatohepatitis

Nafld Without Nash

Nafld Without Mention Of Nash

Fatty Liver Disease

Alcoholic Fatty Liver

Fatty Liver

Fatty Liver, Alcoholic

Fatty Change Of Liver

Hepatic Lipidosis

Steatosis Of Liver

Fatty Liver Alcoholic

Steatohepatitis

Etoh Fatty Liver

Etoh Fatty Liver Metamorphosis

Fatty Etoh Liver Necrosis

Nodular Nonsuppurative Panniculitis

Weber-Christian Disease

Relapsing Febrile Nodular Nonsuppurative Panniculitis

Idiopathic Nodular Panniculitis

Pfeiffer-Weber-Christian Syndrome

Weber-Christian Panniculitis

Panniculitis, Nodular Nonsuppurative

Nodular Non-Suppurative Febrile Panniculitis

Weber - Christian Disease

Panniculitis Nodular Nonsuppurative

Nodular Non-Suppurative Panniculitis

Idiopathic Lobular Panniculitis

Relapsing Febrile Nodular Panniculitis

Wcd

Non-Alcoholic Steatohepatitis

Nonalcoholic Steatohepatitis

Nash

Nash - [Non-Alcoholic Steatohepatitis]

Non-Alcoholic Steatohepatosis

Lipid Storage Disease

Lipoidosis

Inborn Lipid Storage Disorder

Lipoid Storage Diseas

Lipid Storage Diseases

Lipidoses

Hypobetalipoproteinemia, Familial, 1

Hypobetalipoproteinemia

Familial Hypobetalipoproteinemia 1

Familial Hypobetalipoproteinemia

FHBL1

Hypobetalipoproteinemia, Familial

Fhbl

Acanthocytosis With Hypobetalipoproteinemia

Hypobetalipoproteinemias

Hypobetalipoproteinemia, Normotriglyceridemic

Hypo-Beta-Lipoproteinemia

Hypobetalipoprotéinemia, Familial

Normotriglyceridemic Hypobetalipoproteinemia

Hypobetalipoproteinemia, Familial, Type 1

Lysosomal Storage Disease

Lysosomal Storage Diseases

Disorder Of Lysosomal Enzyme

Inborn Lysosomal Enzyme Disorder

Lysosomal Storage Metabolism Disorder

Lysosomal Storage 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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus TM6SF2 RGD RGD:1597457
Macaca mulatta TM6SF2 VGNC VGNC:78567
Felis catus TM6SF2 VGNC VGNC:66226
Bos taurus TM6SF2 VGNC VGNC:35909
Mus musculus TM6SF2 MGD MGI:1933210
Canis familiaris TM6SF2 VGNC VGNC:47412