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Aliases for TSPAN18 Gene

Aliases for TSPAN18 Gene

  • Tetraspanin 18 2 3 5
  • Tspan-18 3 4
  • Tetraspanin-18 3
  • TSPAN 3

External Ids for TSPAN18 Gene

Previous GeneCards Identifiers for TSPAN18 Gene

  • GC11P044838
  • GC11P044496

Summaries for TSPAN18 Gene

GeneCards Summary for TSPAN18 Gene

TSPAN18 (Tetraspanin 18) is a Protein Coding gene. Diseases associated with TSPAN18 include Epileptic Encephalopathy, Early Infantile, 9 and Ichthyosis, Congenital, Autosomal Recessive 11. An important paralog of this gene is TSPAN1.

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TSPAN18 Gene

Genomics for TSPAN18 Gene

Regulatory Elements for TSPAN18 Gene

Enhancers for TSPAN18 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
GH11G044861 1.8 FANTOM5 Ensembl ENCODE dbSUPER 16.5 +136.0 136038 2.8 HDGF PKNOX1 ZNF766 GLIS2 ELK1 FOS JUNB TBX21 ZNF592 GLIS1 TSPAN18 GC11M044917 PIR54519
GH11G044606 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10 -115.2 -115208 8.9 HDGF PKNOX1 ATF1 SIN3A YBX1 GLIS2 ZNF143 ZNF207 FOS SP3 CD82 TSPAN18 PRDM11 ENSG00000255092 RPL34P22
GH11G044759 1.5 Ensembl ENCODE dbSUPER 11.5 +34.5 34538 2.4 PKNOX1 ATF1 ARNT CREB3L1 TCF12 ELK1 CBX5 GATA2 ZMIZ1 FOS TSPAN18 EXT2 PIR54519 ENSG00000255032
GH11G044763 1 Ensembl ENCODE dbSUPER 16.1 +37.3 37294 1.3 GATA2 FOXP2 FOS EBF1 ZIC2 TSPAN18 EXT2 PIR54519 GC11M044917
GH11G044773 1.3 Ensembl ENCODE dbSUPER 11.4 +48.2 48174 2.1 BCOR CTCF RB1 HINFP JUN ZMYM3 ZIC2 RAD21 ZNF316 DIDO1 TSPAN18 PIR54519 GC11M044917
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TSPAN18 on UCSC Golden Path with GeneCards custom track

Promoters for TSPAN18 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000039325 1035 1401 RB1 ZSCAN4 KLF17 RAD21 GLIS2 SCRT2 ZNF143 ZNF391 IKZF2 SP3

Genomic Location for TSPAN18 Gene

Chromosome:
11
Start:
44,726,465 bp from pter
End:
44,932,427 bp from pter
Size:
205,963 bases
Orientation:
Plus strand

Genomic View for TSPAN18 Gene

Genes around TSPAN18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TSPAN18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TSPAN18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TSPAN18 Gene

Proteins for TSPAN18 Gene

  • Protein details for TSPAN18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96SJ8-TSN18_HUMAN
    Recommended name:
    Tetraspanin-18
    Protein Accession:
    Q96SJ8
    Secondary Accessions:
    • Q6UY44
    • Q8NBI9

    Protein attributes for TSPAN18 Gene

    Size:
    248 amino acids
    Molecular mass:
    27710 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC11690.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for TSPAN18 Gene

Post-translational modifications for TSPAN18 Gene

  • Glycosylation at Asn111 and posLast=129129

No data available for DME Specific Peptides for TSPAN18 Gene

Domains & Families for TSPAN18 Gene

Gene Families for TSPAN18 Gene

Suggested Antigen Peptide Sequences for TSPAN18 Gene

Graphical View of Domain Structure for InterPro Entry

Q96SJ8

UniProtKB/Swiss-Prot:

TSN18_HUMAN :
  • Belongs to the tetraspanin (TM4SF) family.
Family:
  • Belongs to the tetraspanin (TM4SF) family.
genes like me logo Genes that share domains with TSPAN18: view

Function for TSPAN18 Gene

Phenotypes for TSPAN18 Gene

genes like me logo Genes that share phenotypes with TSPAN18: view

Animal Models for TSPAN18 Gene

MGI Knock Outs for TSPAN18:

Animal Model Products

  • Taconic Biosciences Mouse Models for TSPAN18

CRISPR Products

miRNA for TSPAN18 Gene

miRTarBase miRNAs that target TSPAN18

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TSPAN18 Gene

Localization for TSPAN18 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TSPAN18 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 TSPAN18 gene
Compartment Confidence
plasma membrane 5
nucleus 3

Gene Ontology (GO) - Cellular Components for TSPAN18 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 --
genes like me logo Genes that share ontologies with TSPAN18: view

Pathways & Interactions for TSPAN18 Gene

SuperPathways for TSPAN18 Gene

No Data Available

Interacting Proteins for TSPAN18 Gene

Gene Ontology (GO) - Biological Process for TSPAN18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007166 cell surface receptor signaling pathway IBA --
genes like me logo Genes that share ontologies with TSPAN18: view

No data available for Pathways by source and SIGNOR curated interactions for TSPAN18 Gene

Drugs & Compounds for TSPAN18 Gene

No Compound Related Data Available

Transcripts for TSPAN18 Gene

Unigene Clusters for TSPAN18 Gene

Tetraspanin 18:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TSPAN18 Gene

No ASD Table

Relevant External Links for TSPAN18 Gene

GeneLoc Exon Structure for
TSPAN18
ECgene alternative splicing isoforms for
TSPAN18

Expression for TSPAN18 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TSPAN18 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TSPAN18 Gene

This gene is overexpressed in Heart - Atrial Appendage (x5.7) and Heart - Left Ventricle (x4.2).

Protein differential expression in normal tissues from HIPED for TSPAN18 Gene

This gene is overexpressed in Fetal Brain (20.0), Cerebral cortex (6.9), and Peripheral blood mononuclear cells (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TSPAN18 Gene



NURSA nuclear receptor signaling pathways regulating expression of TSPAN18 Gene:

TSPAN18

SOURCE GeneReport for Unigene cluster for TSPAN18 Gene:

Hs.385634

Evidence on tissue expression from TISSUES for TSPAN18 Gene

  • Nervous system(3.5)
genes like me logo Genes that share expression patterns with TSPAN18: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TSPAN18 Gene

Orthologs for TSPAN18 Gene

This gene was present in the common ancestor of animals.

Orthologs for TSPAN18 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TSPAN18 34 35
  • 99.6 (n)
cow
(Bos Taurus)
Mammalia TSPAN18 34 35
  • 92.98 (n)
dog
(Canis familiaris)
Mammalia TSPAN18 34 35
  • 91.26 (n)
oppossum
(Monodelphis domestica)
Mammalia TSPAN18 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tspan18 34 16 35
  • 87.1 (n)
rat
(Rattus norvegicus)
Mammalia Tspan18 34
  • 87.1 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TSPAN18 35
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves TSPAN18 34 35
  • 76.25 (n)
lizard
(Anolis carolinensis)
Reptilia TSPAN18 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tspan18 34
  • 71.52 (n)
Str.15520 34
African clawed frog
(Xenopus laevis)
Amphibia LOC398586 34
zebrafish
(Danio rerio)
Actinopterygii tspan18b 34 35
  • 73.44 (n)
tspan18a 35
  • 67 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Tsp66E 35
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tsp-11 35
  • 20 (a)
ManyToMany
tsp-13 35
  • 15 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5127 35
  • 41 (a)
ManyToMany
-- 35
  • 37 (a)
ManyToMany
CSA.10827 35
  • 36 (a)
ManyToMany
CSA.8143 35
  • 35 (a)
ManyToMany
CSA.4407 35
  • 31 (a)
ManyToMany
CSA.10478 35
  • 29 (a)
ManyToMany
-- 35
  • 28 (a)
ManyToMany
Species where no ortholog for TSPAN18 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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)

Evolution for TSPAN18 Gene

ENSEMBL:
Gene Tree for TSPAN18 (if available)
TreeFam:
Gene Tree for TSPAN18 (if available)

Paralogs for TSPAN18 Gene

Paralogs for TSPAN18 Gene

genes like me logo Genes that share paralogs with TSPAN18: view

Variants for TSPAN18 Gene

Sequence variations from dbSNP and Humsavar for TSPAN18 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000011903 -- 44,809,965(+) GAAAC(A/G)GCGCA intron-variant
rs1000056565 -- 44,928,002(+) TCCTG(C/G)TCAAG intron-variant
rs1000059425 -- 44,763,981(+) AGAGG(C/T)CTCAG intron-variant, upstream-variant-2KB
rs1000063182 -- 44,891,073(+) GGCTG(A/G)GGTGG intron-variant
rs1000075660 -- 44,863,459(+) TCTTC(C/T)CTGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TSPAN18 Gene

Variant ID Type Subtype PubMed ID
esv2744420 CNV deletion 23290073
esv28960 CNV gain 19812545
esv3626170 CNV loss 21293372
nsv1042139 CNV loss 25217958
nsv304 CNV deletion 18451855
nsv482977 CNV gain 15286789
nsv510252 OTHER sequence alteration 20534489
nsv554184 CNV loss 21841781
nsv832140 CNV loss 17160897

Variation tolerance for TSPAN18 Gene

Residual Variation Intolerance Score: 55.6% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TSPAN18 Gene

Human Gene Mutation Database (HGMD)
TSPAN18
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TSPAN18

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TSPAN18 Gene

Disorders for TSPAN18 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TSPAN18 Gene - From: DISEASES

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 9
  • early infantile epileptic encephalopathy 9
ichthyosis, congenital, autosomal recessive 11
  • autosomal recessive congenital ichthyosis 11
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TSPAN18

Genetic Association Database (GAD)
TSPAN18
Human Genome Epidemiology (HuGE) Navigator
TSPAN18
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TSPAN18
genes like me logo Genes that share disorders with TSPAN18: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TSPAN18 Gene

Publications for TSPAN18 Gene

  1. Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2. (PMID: 22037552) Yue W.H. … Zhang D. (Nat. Genet. 2011) 3 46 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 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 TSPAN18 Gene

Sources for TSPAN18 Gene

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