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Aliases for TM6SF2 Gene

Aliases for TM6SF2 Gene

  • Transmembrane 6 Superfamily Member 2 2 3 5

External Ids for TM6SF2 Gene

Previous GeneCards Identifiers for TM6SF2 Gene

  • GC19M019859
  • GC19M019756
  • GC19M019210
  • GC19M019226
  • GC19M019228
  • GC19M019236
  • GC19M019375
  • GC19M018938

Summaries for TM6SF2 Gene

GeneCards Summary for TM6SF2 Gene

TM6SF2 (Transmembrane 6 Superfamily Member 2) is a Protein Coding gene. An important paralog of this gene is TM6SF1.

UniProtKB/Swiss-Prot for TM6SF2 Gene

  • Regulator of liver fat metabolism influencing triglyceride secretion and hepatic lipid droplet content (PubMed:24531328, PubMed:24927523). May function as sterol isomerase (PubMed:25566323).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TM6SF2 Gene

Genomics for TM6SF2 Gene

Regulatory Elements for TM6SF2 Gene

Enhancers for TM6SF2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TM6SF2 on UCSC Golden Path with GeneCards custom track

Promoters for TM6SF2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TM6SF2 on UCSC Golden Path with GeneCards custom track

Genomic Location for TM6SF2 Gene

Chromosome:
19
Start:
19,264,364 bp from pter
End:
19,273,391 bp from pter
Size:
9,028 bases
Orientation:
Minus strand

Genomic View for TM6SF2 Gene

Genes around TM6SF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TM6SF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TM6SF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TM6SF2 Gene

Proteins for TM6SF2 Gene

  • Protein details for TM6SF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZW4-TM6S2_HUMAN
    Recommended name:
    Transmembrane 6 superfamily member 2
    Protein Accession:
    Q9BZW4
    Secondary Accessions:
    • Q0IJ64

    Protein attributes for TM6SF2 Gene

    Size:
    377 amino acids
    Molecular mass:
    42554 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TM6SF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TM6SF2 Gene

Proteomics data for TM6SF2 Gene at MOPED

Post-translational modifications for TM6SF2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TM6SF2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TM6SF2 Gene

Domains & Families for TM6SF2 Gene

Protein Domains for TM6SF2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TM6SF2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BZW4

UniProtKB/Swiss-Prot:

TM6S2_HUMAN :
  • Contains 2 EXPERA domains.
  • Belongs to the TM6SF family.
Domain:
  • Contains 2 EXPERA domains.
Family:
  • Belongs to the TM6SF family.
genes like me logo Genes that share domains with TM6SF2: view

No data available for Gene Families for TM6SF2 Gene

Function for TM6SF2 Gene

Molecular function for TM6SF2 Gene

UniProtKB/Swiss-Prot Function:
Regulator of liver fat metabolism influencing triglyceride secretion and hepatic lipid droplet content (PubMed:24531328, PubMed:24927523). May function as sterol isomerase (PubMed:25566323).
genes like me logo Genes that share phenotypes with TM6SF2: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TM6SF2 Gene

Localization for TM6SF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TM6SF2 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TM6SF2 Gene COMPARTMENTS Subcellular localization image for TM6SF2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
extracellular 1

Gene Ontology (GO) - Cellular Components for TM6SF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TM6SF2: view

Pathways & Interactions for TM6SF2 Gene

SuperPathways for TM6SF2 Gene

No Data Available

Interacting Proteins for TM6SF2 Gene

Gene Ontology (GO) - Biological Process for TM6SF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019216 regulation of lipid metabolic process IDA 24927523
genes like me logo Genes that share ontologies with TM6SF2: view

No data available for Pathways by source and SIGNOR curated interactions for TM6SF2 Gene

Drugs & Compounds for TM6SF2 Gene

No Compound Related Data Available

Transcripts for TM6SF2 Gene

Unigene Clusters for TM6SF2 Gene

Transmembrane 6 superfamily member 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TM6SF2 Gene

No ASD Table

Relevant External Links for TM6SF2 Gene

GeneLoc Exon Structure for
TM6SF2
ECgene alternative splicing isoforms for
TM6SF2

Expression for TM6SF2 Gene

mRNA expression in normal human tissues for TM6SF2 Gene

mRNA differential expression in normal tissues according to GTEx for TM6SF2 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x21.0) and Liver (x16.0).

SOURCE GeneReport for Unigene cluster for TM6SF2 Gene Hs.531624

mRNA Expression by UniProt/SwissProt for TM6SF2 Gene

Q9BZW4-TM6S2_HUMAN
Tissue specificity: Substantial expression in liver and intestine, whereas all other tissues analyzed show low levels.
genes like me logo Genes that share expression patterns with TM6SF2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for TM6SF2 Gene

Orthologs for TM6SF2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TM6SF2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TM6SF2 35
  • 84.66 (n)
  • 81.91 (a)
TM6SF2 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TM6SF2 35
  • 85.2 (n)
  • 83.24 (a)
TM6SF2 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tm6sf2 35
  • 80.71 (n)
  • 78.67 (a)
Tm6sf2 16
Tm6sf2 36
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TM6SF2 35
  • 99.65 (n)
  • 99.73 (a)
TM6SF2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tm6sf2 35
  • 80.55 (n)
  • 78.78 (a)
oppossum
(Monodelphis domestica)
Mammalia TM6SF2 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TM6SF2 36
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves TM6SF2 35
  • 65.83 (n)
  • 60 (a)
TM6SF2 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tm6sf2 35
  • 59.89 (n)
  • 57.94 (a)
zebrafish
(Danio rerio)
Actinopterygii tm6sf2 35
  • 54.42 (n)
  • 45.86 (a)
tm6sf2 36
  • 44 (a)
OneToMany
TM6SF2 (2 of 2) 36
  • 45 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 22 (a)
ManyToMany
CSA.5317 36
  • 28 (a)
ManyToMany
Species with no ortholog for TM6SF2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TM6SF2 Gene

ENSEMBL:
Gene Tree for TM6SF2 (if available)
TreeFam:
Gene Tree for TM6SF2 (if available)

Paralogs for TM6SF2 Gene

Paralogs for TM6SF2 Gene

(1) SIMAP similar genes for TM6SF2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TM6SF2: view

Variants for TM6SF2 Gene

Sequence variations from dbSNP and Humsavar for TM6SF2 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs58542926 - 19,268,740(+) GATCT(C/T)GGAGC reference, missense
rs8103496 -- 19,275,206(+) AGGAA(A/G)GAACA upstream-variant-2KB
rs13344498 -- 19,269,270(+) TCCAG(C/T)GGGTT intron-variant
rs62135548 -- 19,265,357(+) TTTAA(A/T)ATTTC intron-variant
rs66543857 -- 19,271,745(+) AGGCT(-/GGTCTCGAACTCCTGACCT)CAGGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TM6SF2 Gene

Variant ID Type Subtype PubMed ID
nsv911303 CNV Loss 21882294
nsv911304 CNV Loss 21882294
nsv911305 CNV Loss 21882294
nsv911306 CNV Loss 21882294

Variation tolerance for TM6SF2 Gene

Residual Variation Intolerance Score: 78.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.62; 65.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TM6SF2 Gene

Human Gene Mutation Database (HGMD)
TM6SF2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TM6SF2 Gene

Disorders for TM6SF2 Gene

Relevant External Links for TM6SF2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TM6SF2

No disorders were found for TM6SF2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TM6SF2 Gene

Publications for TM6SF2 Gene

  1. Cloning of the novel gene TM6SF1 reveals conservation of clusters of paralogous genes between human chromosomes 15q24-q26 and 19p13.3- p12. (PMID: 11124529) Carim-Todd L. … Sumoy L. (Cytogenet. Cell Genet. 2000) 2 3 4 67
  2. Genetic variation in transmembrane 6 superfamily member 2 and the risk of nonalcoholic fatty liver disease and histological disease severity. (PMID: 25302781) Sookoian S. … Pirola C.J. (Hepatology 2015) 3
  3. Circulating triacylglycerol signatures and insulin sensitivity in NAFLD associated with the E167K variant in TM6SF2. (PMID: 25457209) Zhou Y. … Yki-JAorvinen H. (J. Hepatol. 2015) 3
  4. TM6SF2: catch-22 in the fight against nonalcoholic fatty liver disease and cardiovascular disease? (PMID: 25639710) Kahali B. … Speliotes E.K. (Gastroenterology 2015) 3
  5. The TM6SF2 rs58542926 T allele is significantly associated with non-alcoholic fatty liver disease in Chinese. (PMID: 25687425) Wang X. … Liu W. (J. Hepatol. 2015) 3

Products for TM6SF2 Gene

Sources for TM6SF2 Gene

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