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Aliases for TM6SF2 Gene

Aliases for TM6SF2 Gene

  • Transmembrane 6 Superfamily Member 2 2 3
  • KIAA1926 6

External Ids for TM6SF2 Gene

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.

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

Genomics for TM6SF2 Gene

Genomic Location for TM6SF2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TM6SF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TM6SF2 Gene

Regulatory Elements 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 for TM6SF2 Gene

Protein Domains for TM6SF2 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

TM6S2_HUMAN
Family:
  • Belongs to the TM6SF family.:
    • Q9BZW4
genes like me logo Genes that share domains with TM6SF2: view

No data available for Gene Families for TM6SF2 Gene

Function 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

Phenotypes for TM6SF2 Gene

GenomeRNAi human phenotypes for TM6SF2:
genes like me logo Genes that share phenotypes with TM6SF2: view

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for TM6SF2 Gene

Localization for TM6SF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TM6SF2 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TM6SF2 Gene COMPARTMENTS Subcellular localization image for TM6SF2 gene
Compartment Confidence
plasma membrane 3

Gene Ontology (GO) - Cellular Components for TM6SF2 Gene

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

Pathways 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:0008150 biological_process ND --
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 for TM6SF2 Gene

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 (21.0) and Liver (16.0).

SOURCE GeneReport for Unigene cluster for TM6SF2 Gene Hs.531624

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

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 36
  • 99.65 (n)
  • 99.73 (a)
TM6SF2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TM6SF2 36
  • 84.66 (n)
  • 81.91 (a)
TM6SF2 37
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TM6SF2 36
  • 85.2 (n)
  • 83.24 (a)
TM6SF2 37
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tm6sf2 36
  • 80.71 (n)
  • 78.67 (a)
Tm6sf2 16
Tm6sf2 37
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TM6SF2 37
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TM6SF2 37
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tm6sf2 36
  • 80.55 (n)
  • 78.78 (a)
chicken
(Gallus gallus)
Aves TM6SF2 36
  • 65.83 (n)
  • 60 (a)
TM6SF2 37
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tm6sf2 36
  • 59.89 (n)
  • 57.94 (a)
zebrafish
(Danio rerio)
Actinopterygii tm6sf2 36
  • 54.42 (n)
  • 45.86 (a)
tm6sf2 37
  • 44 (a)
OneToMany
TM6SF2 (2 of 2) 37
  • 45 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 22 (a)
ManyToMany
CSA.5317 37
  • 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

Selected 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 MAF
rs735273 -- 19,274,602(+) CTTGA(C/T)GCCAA upstream-variant-2KB
rs998732 -- 19,267,862(+) GGAAC(A/G)CTCAG intron-variant
rs2074298 -- 19,266,907(+) attca(C/G)gctgg intron-variant
rs2074299 -- 19,269,837(+) GGGCC(C/T)GGAGA intron-variant
rs2074300 -- 19,270,187(+) ATGGC(G/T)CCGGC synonymous-codon, reference

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

Relevant External Links for TM6SF2 Gene

HapMap Linkage Disequilibrium report
TM6SF2
Human Gene Mutation Database (HGMD)
TM6SF2

Disorders for TM6SF2 Gene

No disorders were found for TM6SF2 Gene.

No data available for UniProtKB/Swiss-Prot 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
  2. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J. … Lucas S.M. (Nature 2004) 3 4
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  4. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. (PMID: 23974872) Ripke S. … Sullivan P.F. (Nat. Genet. 2013) 3
  5. Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk. (PMID: 24633158) Holmen O.L. … Willer C.J. (Nat. Genet. 2014) 3

Products for TM6SF2 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate TM6SF2
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for TM6SF2
    • Block miRNA regulation of TM6SF2 using miScript Target Protectors

    Sources for TM6SF2 Gene

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