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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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	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	Verweise	Source
involved in regulation of lipid metabolic process	IDA IDA: Inferred from direct assay	24927523	GOA

Cellular Component GO Annotation	Evidence	Verweise	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

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	Verweise
Intra	TM6SF2	Q9BZW4	TMEM237	Homo sapiens	Q96Q45-2	Y2H Prey Pooling	32296183
Intra	TM6SF2	Q9BZW4	TMEM237	Homo sapiens	Q96Q45-2	Y2H Array	32296183
Intra	TM6SF2	Q9BZW4	ARL13B	Homo sapiens	Q3SXY8	Y2H Prey Pooling	32296183
Intra	TM6SF2	Q9BZW4	ARL13B	Homo sapiens	Q3SXY8	Y2H Array	32296183
Intra	TM6SF2	Q9BZW4	HIBADH	Homo sapiens	P31937	Y2H Array	32296183
Intra	TM6SF2	Q9BZW4	HIBADH	Homo sapiens	P31937	Y2H Prey Pooling	32296183
Intra	TM6SF2	Q9BZW4	KCNJ6	Homo sapiens	P48051	Y2H Array	32296183
Intra	TM6SF2	Q9BZW4	KCNJ6	Homo sapiens	P48051	Y2H Prey Pooling	32296183
Intra	TM6SF2	Q9BZW4	BCL2L13	Homo sapiens	Q9BXK5	Y2H Array	32296183
Intra	TM6SF2	Q9BZW4	SCN3B	Homo sapiens	Q9NY72	Validated Y2H	32296183
Intra	TM6SF2	Q9BZW4	FAM209A	Homo sapiens	Q5JX71	Y2H Array	32296183
Intra	TM6SF2	Q9BZW4	PVR	Homo sapiens	P15151	Y2H Prey Pooling	32296183
Intra	TM6SF2	Q9BZW4	SCN3B	Homo sapiens	Q9NY72	Y2H Array	32296183
Intra	TM6SF2	Q9BZW4	SCN3B	Homo sapiens	Q9NY72	Y2H Prey Pooling	32296183
Intra	TM6SF2	Q9BZW4	PVR	Homo sapiens	P15151	Y2H Array	32296183
Intra	TM6SF2	Q9BZW4	MUC1	Homo sapiens	P15941-11	Y2H Prey Pooling	32296183
Intra	TM6SF2	Q9BZW4	MUC1	Homo sapiens	P15941-11	Y2H Array	32296183
Intra	TM6SF2	Q9BZW4	BCL2L13	Homo sapiens	Q9BXK5	Y2H Prey Pooling	32296183
Intra	TM6SF2	Q9BZW4	FAM209A	Homo sapiens	Q5JX71	Y2H Prey Pooling	32296183
Intra	TM6SF2	Q9BZW4	SSMEM1	Homo sapiens	Q8WWF3	Y2H Prey Pooling	32296183
Intra	TM6SF2	Q9BZW4	SSMEM1	Homo sapiens	Q8WWF3	Y2H Array	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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS14611	TM6SF2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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