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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).

Additional gene information for TM6SF2 Gene

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

Genomics for TM6SF2 Gene

GeneHancer (GH) Regulatory Elements for TM6SF2 Gene

Promoters and enhancers for TM6SF2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I019271 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 550.8 +0.5 489 2.2 RXRA SAP130 SP5 ZSCAN4 ARID4B SIN3A DMAP1 ELF1 GABPA KAT8 TM6SF2 ENSG00000267629 NDUFA13 GATAD2A MAU2 HAPLN4
GH19I019274 Enhancer 0.6 ENCODE 550.8 -1.7 -1706 1.4 JUND RXRA HNF4G ZNF398 MNT HNF4A RAD21 KDM6A TM6SF2 ENSG00000267629 NDUFA13 GATAD2A GC19M019307
GH19I019402 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.4 -132.0 -132043 5.3 PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF766 CBX5 E2F8 GATAD2A NDUFA13 ENSG00000268030 UPF1 ATP13A1 ENSG00000268938 ELL MAU2 ENSG00000269191 TM6SF2
GH19I019641 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 4.9 -369.7 -369671 3 PKNOX1 ATF1 SIN3A ZNF48 ZNF121 GLIS2 ARID2 ZNF207 ZNF143 RUNX3 GMIP LPAR2 TM6SF2 GC19M019627
GH19I019484 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 4 -214.6 -214585 6.3 PKNOX1 ARNT ARID4B SIN3A ZBTB7B IRF4 YY1 ZNF766 ZNF143 FOS GATAD2A NR2C2AP ZNF90 ENSG00000268030 TMEM161A ATP13A1 ENSG00000267481 YJEFN3 TM6SF2 RFXANK
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TM6SF2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TM6SF2 gene promoter:

Genomic Locations for TM6SF2 Gene

Genomic Locations for TM6SF2 Gene
chr19:19,264,364-19,273,391
(GRCh38/hg38)
Size:
9,028 bases
Orientation:
Minus strand
chr19:19,375,173-19,384,200
(GRCh37/hg19)

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

Post-translational modifications for TM6SF2 Gene

No Post-translational modifications

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

Gene Families for TM6SF2 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

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

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).

Phenotypes From GWAS Catalog for TM6SF2 Gene

Gene Ontology (GO) - Molecular Function for TM6SF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with TM6SF2: view
genes like me logo Genes that share phenotypes with TM6SF2: view

Animal Models for TM6SF2 Gene

MGI Knock Outs for TM6SF2:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TM6SF2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
extracellular 2

Gene Ontology (GO) - Cellular Components for TM6SF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA,IDA 24927523
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane IEA,IDA 24927523
genes like me logo Genes that share ontologies with TM6SF2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TM6SF2 Gene

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:0006629 lipid metabolic process IEA --
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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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).

NURSA nuclear receptor signaling pathways regulating expression of TM6SF2 Gene:

TM6SF2

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.

Evidence on tissue expression from TISSUES for TM6SF2 Gene

  • Liver(3)
genes like me logo Genes that share expression patterns with TM6SF2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia TM6SF2 33 34
  • 99.65 (n)
dog
(Canis familiaris)
Mammalia TM6SF2 33 34
  • 85.2 (n)
cow
(Bos Taurus)
Mammalia TM6SF2 33 34
  • 84.66 (n)
mouse
(Mus musculus)
Mammalia Tm6sf2 33 16 34
  • 80.71 (n)
rat
(Rattus norvegicus)
Mammalia LOC100911416 33
  • 80.55 (n)
oppossum
(Monodelphis domestica)
Mammalia TM6SF2 34
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TM6SF2 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves TM6SF2 33 34
  • 65.83 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia tm6sf2 33
  • 59.89 (n)
zebrafish
(Danio rerio)
Actinopterygii tm6sf2 33 34
  • 54.42 (n)
TM6SF2 (2 of 2) 34
  • 45 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5317 34
  • 28 (a)
ManyToMany
-- 34
  • 22 (a)
ManyToMany
Species where no ortholog for TM6SF2 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000474557 -- 19,272,694(-) T/G intron_variant
rs1000600182 -- 19,266,886(-) A/G intron_variant
rs1001071362 -- 19,271,051(-) C/T coding_sequence_variant, missense_variant
rs1001528360 -- 19,272,303(-) G/A intron_variant
rs1001608650 -- 19,264,219(-) G/A downstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv1151217 CNV deletion 26484159

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)

Additional Variant Information for TM6SF2 Gene

Human Gene Mutation Database (HGMD)
TM6SF2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TM6SF2

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

Disorders for TM6SF2 Gene

Additional Disease Information for 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 (Cytogenetics and cell genetics 2000) 2 3 4 58
  2. Exome-wide association study identifies a TM6SF2 variant that confers susceptibility to nonalcoholic fatty liver disease. (PMID: 24531328) Kozlitina J … Cohen JC (Nature genetics 2014) 3 4 58
  3. Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk. (PMID: 24633158) Holmen OL … Willer CJ (Nature genetics 2014) 3 4 58
  4. TM6SF2 is a regulator of liver fat metabolism influencing triglyceride secretion and hepatic lipid droplet content. (PMID: 24927523) Mahdessian H … van't Hooft F (Proceedings of the National Academy of Sciences of the United States of America 2014) 3 4 58
  5. TM6SF2 rs58542926 influences hepatic fibrosis progression in patients with non-alcoholic fatty liver disease. (PMID: 24978903) Liu YL … Anstee QM (Nature communications 2014) 3 4 58

Products for TM6SF2 Gene

Sources for TM6SF2 Gene

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