TSPAN18 Gene (Protein Coding)

Tetraspanin 18

GC11P044726
GIFtS:
37

Aliases for TSPAN18 Gene

Aliases for TSPAN18 Gene

  • Tetraspanin 18 2 3 5
  • Tetraspanin-18 3 4
  • Tspan-18 3 4
  • 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. An important paralog of this gene is TSPAN1.

Additional gene information for TSPAN18 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TSPAN18 Gene

Genomics for TSPAN18 Gene

GeneHancer (GH) Regulatory Elements for TSPAN18 Gene

Promoters and enhancers for TSPAN18 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
GH11J044725 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 756.2 +1.2 1238 5.7 CTCF ELF1 RELA RAD21 SP1 ZNF148 ZNF639 GLIS2 ZIC2 REST TSPAN18 5EW4_A-010 EXT2 ENSG00000255032
GH11J044905 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 754.9 +179.6 179598 3.3 CBFA2T2 MNT ZNF766 FOS POLR2A TCF12 EBF1 KLF1 TAL1 CBFA2T3 TSPAN18 lnc-SYT13-9 TP53I11 piR-33164-005
GH11J044861 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 16.5 +136.2 136174 3.1 ZNF24 SP1 SMARCE1 MYC RELA MAX MNT ZNF148 ZBTB33 MAFK TSPAN18 lnc-SYT13-9 piR-33164-005
GH11J044758 Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas dbSUPER 16.1 +35.1 35136 5.6 ZBTB6 SMARCE1 DACH1 TEAD4 CBFA2T2 SMARCA4 TRIM24 DPF2 ZIC2 CREB1 piR-33164-005 TSPAN18 EXT2 ENSG00000255032
GH11J044780 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.2 +54.3 54336 2.4 SMARCE1 CC2D1A ELF1 L3MBTL2 DACH1 TEAD4 ZKSCAN8 ZNF148 ZFX MAFK ALKBH3 TSPAN18 ALKBH3-AS1 ENSG00000254409 SEC14L1P1 piR-33164-005 lnc-SYT13-9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TSPAN18 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TSPAN18 gene promoter:
  • AML1a
  • Chx10
  • Egr-1
  • Egr-3
  • Egr-4
  • LyF-1
  • NF-1
  • Pax-4a
  • POU3F2

Genomic Locations for TSPAN18 Gene

Genomic Locations for TSPAN18 Gene
chr11:44,726,465-44,932,427
(GRCh38/hg38)
Size:
205,963 bases
Orientation:
Plus strand
chr11:44,748,015-44,953,978
(GRCh37/hg19)
Size:
205,964 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 Structure • Gene Density

RefSeq DNA sequence for TSPAN18 Gene

Proteins for TSPAN18 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for TSPAN18 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TSPAN18 Gene

  • Glycosylation at Asn111 and Asn129

Other Protein References for TSPAN18 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TSPAN18 Gene

Domains & Families for TSPAN18 Gene

Gene Families for TSPAN18 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TSPAN18 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TSPAN18 Gene

GenScript: Design optimal peptide antigens:
  • Tetraspanin 18, isoform CRA_e (Q8WUV1_HUMAN)
  • Tetraspanin-18 (TSN18_HUMAN)

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Phenotypes From GWAS Catalog for TSPAN18 Gene

Phenotypes for TSPAN18 Gene

MGI mutant phenotypes for TSPAN18:
inferred from 1 alleles
GenomeRNAi human phenotypes for TSPAN18:
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TSPAN18

Clone 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 4
nucleus 2

Gene Ontology (GO) - Cellular Components for TSPAN18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TSPAN18: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TSPAN18 Gene

Pathways & Interactions for TSPAN18 Gene

PathCards logo

SuperPathways for TSPAN18 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TSPAN18 Gene

None

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

Drugs & Compounds for TSPAN18 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for TSPAN18 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for TSPAN18 Gene

(2) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(13) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TSPAN18

Clone 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

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for TSPAN18 Gene
mRNA expression by GTEx for TSPAN18 GenemRNA expression by BioGPS 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 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

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 33 32
  • 99.6 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia TSPAN18 33 32
  • 92.98 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia TSPAN18 33 32
  • 91.26 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia TSPAN18 33
  • 90 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Tspan18 17 33 32
  • 87.1 (n)
rat
(Rattus norvegicus)
 Mammalia Tspan18 32
  • 87.1 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia TSPAN18 33
  • 87 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves TSPAN18 33 32
  • 76.25 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia TSPAN18 33
  • 83 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia tspan18 32
  • 71.52 (n)
Str.15520 32
African clawed frog
(Xenopus laevis)
 Amphibia LOC398586 32
zebrafish
(Danio rerio)
 Actinopterygii tspan18b 33 32
  • 73.44 (n)
 OneToMany
tspan18a 33
  • 67 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta Tsp66E 33
  • 27 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea tsp-11 33
  • 20 (a)
 ManyToMany
tsp-13 33
  • 15 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.5127 33
  • 41 (a)
 ManyToMany
-- 33
  • 37 (a)
 ManyToMany
CSA.10827 33
  • 36 (a)
 ManyToMany
CSA.8143 33
  • 35 (a)
 ManyToMany
CSA.4407 33
  • 31 (a)
 ManyToMany
CSA.10478 33
  • 29 (a)
 ManyToMany
-- 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TSPAN18: view image

Paralogs for TSPAN18 Gene

Paralogs for TSPAN18 Gene

(21) SIMAP similar genes for TSPAN18 Gene using alignment to 8 proteins:

  • TSN18_HUMAN
  • E5RFP3_HUMAN
  • E5RFV0_HUMAN
  • E9PKD8_HUMAN
  • E9PL40_HUMAN
  • E9PPB7_HUMAN
  • H0YB98_HUMAN
  • Q8WUV1_HUMAN
genes like me logo Genes that share paralogs with TSPAN18: view

Variants for TSPAN18 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for TSPAN18 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000011903 -- 44,809,965(+) G/A intron_variant
rs1000056565 -- 44,928,002(+) C/G intron_variant
rs1000059425 -- 44,763,981(+) C/T intron_variant
rs1000063182 -- 44,891,073(+) G/A intron_variant
rs1000075660 -- 44,863,459(+) C/T 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)

Additional Variant Information 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

(1) MalaCards diseases for TSPAN18 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 9
  • eiee9
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TSPAN18

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 WH … Zhang D (Nature genetics 2011) 3 43 56
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
  3. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 43 56
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  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 HF … Gray A (Genome research 2003) 3 4 56

ExternalLinks

View latest publications for TSPAN18 gene in Mastermind

Products for TSPAN18 Gene

Sources for TSPAN18 Gene