TM6SF2 - transmembrane 6 superfamily member 2 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 53345

About 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.

Summary

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 Products (1)

mRNA Protein Name
NM_001001524.3 NP_001001524.2 transmembrane 6 superfamily member 2
Molecular Function GO Annotation Evidence References Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence References Source
involved in regulation of lipid metabolic process IDA
IDA: Inferred from direct assay
24927523 GOA
Cellular Component GO Annotation Evidence References Source
located in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
24927523 GOA
located in endoplasmic reticulum-Golgi intermediate compartment membrane IDA
IDA: Inferred from direct assay
24927523 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TM6SF2 Protein Structure

DUF2781

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

  • 0
  • 100
  • 200
  • 300
  • 377 a.a.
Protein Preferred Names Protein Names

transmembrane 6 superfamily member 2

TM6SF2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
TM6SF2 Q9BZW4 TMEM237 Homo sapiens Q96Q45-2 32296183
Intra
TM6SF2 Q9BZW4 TMEM237 Homo sapiens Q96Q45-2 32296183
Intra
TM6SF2 Q9BZW4 ARL13B Homo sapiens Q3SXY8 32296183
Intra
TM6SF2 Q9BZW4 ARL13B Homo sapiens Q3SXY8 32296183
Intra
TM6SF2 Q9BZW4 HIBADH Homo sapiens P31937 32296183
Intra
TM6SF2 Q9BZW4 HIBADH Homo sapiens P31937 32296183
Intra
TM6SF2 Q9BZW4 KCNJ6 Homo sapiens P48051 32296183
Intra
TM6SF2 Q9BZW4 KCNJ6 Homo sapiens P48051 32296183
Intra
TM6SF2 Q9BZW4 BCL2L13 Homo sapiens Q9BXK5 32296183
Intra
TM6SF2 Q9BZW4 SCN3B Homo sapiens Q9NY72 32296183
Intra
TM6SF2 Q9BZW4 FAM209A Homo sapiens Q5JX71 32296183
Intra
TM6SF2 Q9BZW4 PVR Homo sapiens P15151 32296183
Intra
TM6SF2 Q9BZW4 SCN3B Homo sapiens Q9NY72 32296183
Intra
TM6SF2 Q9BZW4 SCN3B Homo sapiens Q9NY72 32296183
Intra
TM6SF2 Q9BZW4 PVR Homo sapiens P15151 32296183
Intra
TM6SF2 Q9BZW4 MUC1 Homo sapiens P15941-11 32296183
Intra
TM6SF2 Q9BZW4 MUC1 Homo sapiens P15941-11 32296183
Intra
TM6SF2 Q9BZW4 BCL2L13 Homo sapiens Q9BXK5 32296183
Intra
TM6SF2 Q9BZW4 FAM209A Homo sapiens Q5JX71 32296183
Intra
TM6SF2 Q9BZW4 SSMEM1 Homo sapiens Q8WWF3 32296183
Intra
TM6SF2 Q9BZW4 SSMEM1 Homo sapiens Q8WWF3 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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
Others TM6SF2 NCBI