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

TM6SF2 - transmembrane 6 superfamily member 2 Gene

Homo sapiens
Gene ID: 53345 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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 Reference Source
involved in regulation of lipid metabolic process IDA
IDA: Inferred from direct assay
24927523 GOA
Cellular Component GO Annotation Evidence Reference 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 Reference
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