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Aliases for TSPAN6 Gene

Aliases for TSPAN6 Gene

  • Tetraspanin 6 2 3 5
  • Transmembrane 4 Superfamily Member 6 2 3 4
  • Putative NF-Kappa-B-Activating Protein 321 3 4
  • Tetraspanin TM4-D 3 4
  • A15 Homolog 3 4
  • TSPAN-6 3 4
  • TM4SF6 3 4
  • Tetraspan TM4SF 3
  • Tetraspanin-6 3
  • T245 Protein 4
  • T245 3

External Ids for TSPAN6 Gene

Previous HGNC Symbols for TSPAN6 Gene

  • TM4SF6

Previous GeneCards Identifiers for TSPAN6 Gene

  • GC00U921554
  • GC0XM099690
  • GC0XM099886
  • GC0XM089683

Summaries for TSPAN6 Gene

Entrez Gene Summary for TSPAN6 Gene

  • The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The protein encoded by this gene is a cell surface glycoprotein and is highly similar in sequence to the transmembrane 4 superfamily member 2 protein. It functions as a negative regulator of retinoic acid-inducible gene I-like receptor-mediated immune signaling via its interaction with the mitochondrial antiviral signaling-centered signalosome. This gene uses alternative polyadenylation sites, and multiple transcript variants result from alternative splicing. [provided by RefSeq, Jul 2013]

GeneCards Summary for TSPAN6 Gene

TSPAN6 (Tetraspanin 6) is a Protein Coding gene. Diseases associated with TSPAN6 include Epileptic Encephalopathy, Early Infantile, 9. GO annotations related to this gene include signal transducer activity. An important paralog of this gene is TSPAN7.

Gene Wiki entry for TSPAN6 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TSPAN6 Gene

Genomics for TSPAN6 Gene

Regulatory Elements for TSPAN6 Gene

Enhancers for TSPAN6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG100642 1.8 FANTOM5 Ensembl ENCODE dbSUPER 14.1 -7.0 -7022 8.9 TBP FOXA2 NFIB ARID4B DMAP1 RAD21 RARA YY1 SCRT2 FOS SYTL4 SRPX2 TSPAN6 CSTF2 PCDH19 GC0XP100679
GH0XG100591 0.4 ENCODE 12.3 +48.4 48406 1.1 MAFK TSPAN6 SRPX2 DRP2 TNMD LOC105373298
GH0XG100635 0.8 ENCODE 0.7 +3.4 3435 2.0 ELF3 TBP CTCF TAF1 ARID4B RAD21 YY1 POLR2A ELK1 SMC3 TSPAN6 LOC105373298
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TSPAN6 on UCSC Golden Path with GeneCards custom track

Genomic Location for TSPAN6 Gene

Chromosome:
X
Start:
100,627,108 bp from pter
End:
100,639,991 bp from pter
Size:
12,884 bases
Orientation:
Minus strand

Genomic View for TSPAN6 Gene

Genes around TSPAN6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TSPAN6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TSPAN6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TSPAN6 Gene

Proteins for TSPAN6 Gene

  • Protein details for TSPAN6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43657-TSN6_HUMAN
    Recommended name:
    Tetraspanin-6
    Protein Accession:
    O43657
    Secondary Accessions:
    • Q54A42
    • Q6IAN9

    Protein attributes for TSPAN6 Gene

    Size:
    245 amino acids
    Molecular mass:
    27563 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TSPAN6 Gene

Post-translational modifications for TSPAN6 Gene

  • Glycosylation at Asn134
  • Modification sites at PhosphoSitePlus

Other Protein References for TSPAN6 Gene

No data available for DME Specific Peptides for TSPAN6 Gene

Domains & Families for TSPAN6 Gene

Gene Families for TSPAN6 Gene

Suggested Antigen Peptide Sequences for TSPAN6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O43657

UniProtKB/Swiss-Prot:

TSN6_HUMAN :
  • Belongs to the tetraspanin (TM4SF) family.
Family:
  • Belongs to the tetraspanin (TM4SF) family.
genes like me logo Genes that share domains with TSPAN6: view

Function for TSPAN6 Gene

Gene Ontology (GO) - Molecular Function for TSPAN6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity IMP 12761501
GO:0005515 protein binding IPI 22908223
genes like me logo Genes that share ontologies with TSPAN6: view
genes like me logo Genes that share phenotypes with TSPAN6: view

Animal Model Products

  • Taconic Biosciences Mouse Models for TSPAN6

CRISPR Products

miRNA for TSPAN6 Gene

miRTarBase miRNAs that target TSPAN6

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TSPAN6 Gene

Localization for TSPAN6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TSPAN6 Gene

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 TSPAN6 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 2

Gene Ontology (GO) - Cellular Components for TSPAN6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with TSPAN6: view

Pathways & Interactions for TSPAN6 Gene

SuperPathways for TSPAN6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TSPAN6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007166 cell surface receptor signaling pathway IBA --
GO:0039532 negative regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway IMP 22908223
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling IMP 12761501
GO:1901223 negative regulation of NIK/NF-kappaB signaling IDA 22908223
genes like me logo Genes that share ontologies with TSPAN6: view

No data available for Pathways by source and SIGNOR curated interactions for TSPAN6 Gene

Drugs & Compounds for TSPAN6 Gene

No Compound Related Data Available

Transcripts for TSPAN6 Gene

Unigene Clusters for TSPAN6 Gene

Tetraspanin 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TSPAN6 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b
SP1: -
SP2: - -
SP3: - -
SP4:
SP5: -

Relevant External Links for TSPAN6 Gene

GeneLoc Exon Structure for
TSPAN6
ECgene alternative splicing isoforms for
TSPAN6

Expression for TSPAN6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TSPAN6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TSPAN6 Gene

This gene is overexpressed in Nasal epithelium (46.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TSPAN6 Gene



NURSA nuclear receptor signaling pathways regulating expression of TSPAN6 Gene:

TSPAN6

SOURCE GeneReport for Unigene cluster for TSPAN6 Gene:

Hs.43233

Evidence on tissue expression from TISSUES for TSPAN6 Gene

  • Lung(4.4)
  • Nervous system(4.1)
  • Kidney(2.2)
  • Liver(2)
genes like me logo Genes that share expression patterns with TSPAN6: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TSPAN6 Gene

Orthologs for TSPAN6 Gene

This gene was present in the common ancestor of animals.

Orthologs for TSPAN6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TSPAN6 34 35
  • 100 (n)
dog
(Canis familiaris)
Mammalia TSPAN6 34 35
  • 93.74 (n)
cow
(Bos Taurus)
Mammalia TSPAN6 34 35
  • 92.38 (n)
rat
(Rattus norvegicus)
Mammalia Tspan6 34
  • 88.16 (n)
mouse
(Mus musculus)
Mammalia Tspan6 34 16 35
  • 87.48 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TSPAN6 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves TSPAN6 34 35
  • 66.39 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia tspan6 34
  • 69.39 (n)
Str.14973 34
zebrafish
(Danio rerio)
Actinopterygii tspan7 34 35
  • 61.71 (n)
fruit fly
(Drosophila melanogaster)
Insecta Tsp47F 34
  • 46.28 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005233 34
  • 45.7 (n)
worm
(Caenorhabditis elegans)
Secernentea tsp-14 35
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7928 35
  • 34 (a)
OneToMany
Species where no ortholog for TSPAN6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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)

Evolution for TSPAN6 Gene

ENSEMBL:
Gene Tree for TSPAN6 (if available)
TreeFam:
Gene Tree for TSPAN6 (if available)

Paralogs for TSPAN6 Gene

(14) SIMAP similar genes for TSPAN6 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TSPAN6: view

Variants for TSPAN6 Gene

Sequence variations from dbSNP and Humsavar for TSPAN6 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs1000035902 -- 100,629,330(+) TAGTC(C/T)CTTCC utr-variant-3-prime
rs1000083682 -- 100,633,561(+) AAGCA(C/T)TTACA intron-variant
rs1000201757 -- 100,627,962(+) GCTTG(A/C)CACCA utr-variant-3-prime
rs1000602171 -- 100,627,169(+) ACAAC(C/T)CACCT utr-variant-3-prime
rs1000909706 -- 100,627,638(+) ATTCA(G/T)TATGC utr-variant-3-prime

Variation tolerance for TSPAN6 Gene

Residual Variation Intolerance Score: 57.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.19; 61.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TSPAN6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TSPAN6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TSPAN6 Gene

Disorders for TSPAN6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TSPAN6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 9
  • early infantile epileptic encephalopathy 9
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TSPAN6

Genetic Association Database (GAD)
TSPAN6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TSPAN6
genes like me logo Genes that share disorders with TSPAN6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TSPAN6 Gene

Publications for TSPAN6 Gene

  1. Cloning and characterization of a novel human gene, TM4SF6, encoding a protein belonging to the transmembrane 4 superfamily, and mapped to Xq22. (PMID: 9782095) Maeda K. … Niikawa N. (Genomics 1998) 2 3 4 64
  2. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways. (PMID: 12761501) Matsuda A. … Sugano S. (Oncogene 2003) 3 4 64
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4 64

Products for TSPAN6 Gene

Sources for TSPAN6 Gene

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