Tm6sf2 transmembrane 6 superfamily member 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tm6sf2provided by MGI
Official Full Name: transmembrane 6 superfamily member 2provided by MGI
Primary source: MGI:MGI:1933210
See related: Ensembl:ENSMUSG00000036151 AllianceGenome:MGI:1933210
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Predicted to enable identical protein binding activity. Predicted to be involved in lipid homeostasis and regulation of lipid metabolic process. Predicted to be active in endoplasmic reticulum membrane and endoplasmic reticulum-Golgi intermediate compartment membrane. Is expressed in lower urinary tract and testis. Orthologous to human TM6SF2 (transmembrane 6 superfamily member 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in duodenum adult (RPKM 496.8), small intestine adult (RPKM 426.9) and 2 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 B3.3; 8 34.15 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (70525574..70532716)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (70072924..70080066)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Myeloid TM6SF2 Deficiency Inhibits Atherosclerosis.
Title: Myeloid TM6SF2 Deficiency Inhibits Atherosclerosis.
Liver-Specific Deletion of Mouse Tm6sf2 Promotes Steatosis, Fibrosis, and Hepatocellular Cancer.
Title: Liver-Specific Deletion of Mouse Tm6sf2 Promotes Steatosis, Fibrosis, and Hepatocellular Cancer.
Expression of TM6SF2 promoted cholesterol biosynthesis in hepatocytes.
Title: Hepatic Transmembrane 6 Superfamily Member 2 Regulates Cholesterol Metabolism in Mice.
Despite TM6SF2 being located in the endoplasmic reticulum and Golgi complex, the lipids that accumulate in its absence reside in lipid droplets.
Title: Inactivation of Tm6sf2, a Gene Defective in Fatty Liver Disease, Impairs Lipidation but Not Secretion of Very Low Density Lipoproteins.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (9) 1 citation
Targeted (3) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in lipid homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of lipid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of lipid metabolic process	ISO Inferred from Sequence Orthology more info
involved_in regulation of lipid metabolic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in endoplasmic reticulum-Golgi intermediate compartment membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum-Golgi intermediate compartment membrane	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum-Golgi intermediate compartment membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: transmembrane 6 superfamily member 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001293795.1 → NP_001280724.1 transmembrane 6 superfamily member 2 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC167132

Consensus CDS

CCDS80889.1

UniProtKB/Swiss-Prot

Q8BIG1, Q8R1J1

UniProtKB/TrEMBL

E9QM19

Related

ENSMUSP00000105788.3, ENSMUST00000110160.9

Conserved Domains (1) summary

pfam10914
Location:218 → 357

DUF2781; Protein of unknown function (DUF2781)
NM_181540.4 → NP_853518.1 transmembrane 6 superfamily member 2 isoform 2

See identical proteins and their annotated locations for NP_853518.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 2 aa shorter compared to isoform 1.

Source sequence(s)

AC167132, AK077126, BB869951

Consensus CDS

CCDS22357.1

UniProtKB/Swiss-Prot

Q8BIG1, Q8R1J1

UniProtKB/TrEMBL

A0A0R4J0J9

Related

ENSMUSP00000046114.6, ENSMUST00000049197.6

Conserved Domains (1) summary

pfam10914
Location:216 → 355

DUF2781; Protein of unknown function (DUF2781)