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    TSPAN18 tetraspanin 18 [ Homo sapiens (human) ]

    Gene ID: 90139, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TSPAN18provided by HGNC
    Official Full Name
    tetraspanin 18provided by HGNC
    Primary source
    HGNC:HGNC:20660
    See related
    Ensembl:ENSG00000157570 MIM:619399; AllianceGenome:HGNC:20660
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TSPAN
    Summary
    Involved in regulation of sprouting angiogenesis. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in heart (RPKM 27.7), adrenal (RPKM 13.4) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TSPAN18 in Genome Data Viewer
    Location:
    11p11.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (44726310..44932423)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (44883873..45089263)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (44748512..44953974)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44656670-44657458 Neighboring gene ribosomal protein L34 pseudogene 22 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44675065-44675680 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44676298-44676913 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:44685723-44686240 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:44692285-44693064 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:44693065-44693844 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:44693845-44694623 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:44710524-44711057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44713680-44714180 Neighboring gene long intergenic non-protein coding RNA 2704 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:44729901-44731100 Neighboring gene Sharpr-MPRA regulatory region 8672 Neighboring gene TSPAN18 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:44747040-44747900 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:44747901-44748762 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3279 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:44750014-44750516 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:44750517-44751017 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:44764333-44765028 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:44763637-44764332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44770929-44771430 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:44774444-44775252 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:44775253-44776059 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44787811-44788311 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:44795688-44796462 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44798427-44798928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44798929-44799428 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_21411 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:44806959-44807560 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:44807561-44808160 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:44816852-44817768 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:44819455-44820133 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_21423 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:44844210-44845075 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:44845076-44845940 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:44845941-44846806 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_21436 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_21440 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_21442 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_21441 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:44869391-44869986 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44870581-44871176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44871177-44871770 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_21450 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:44878622-44879400 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:44883049-44883676 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:44883677-44884304 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4663 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44907116-44907616 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44907617-44908117 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44914725-44915296 Neighboring gene uncharacterized LOC124902664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44932558-44933414 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44944349-44944850 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:44952242-44952850 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44957874-44958474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44960045-44960758 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44964865-44965513 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44966723-44967326 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3281 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3282 Neighboring gene tumor protein p53 inducible protein 11 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:44985644-44986316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44986317-44986988 Neighboring gene uncharacterized LOC105376649 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:44996027-44996672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44997901-44998858 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:45011181-45012070 Neighboring gene long intergenic non-protein coding RNA 2685 Neighboring gene uncharacterized LOC105376650 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:45062883-45063384

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Replication study confirms link between TSPAN18 mutation and schizophrenia in Han Chinese. Yuan J, et al. PLoS One, 2013. PMID 23505562, Free PMC Article
    2. GWAS-identified schizophrenia risk SNPs at TSPAN18 are highly diverged between Europeans and East Asians. Liu J, et al. Am J Med Genet B Neuropsychiatr Genet, 2016 Dec. PMID 27312590
    3. Study of the tetraspanin 18 association with schizophrenia in a Han Chinese population. Wu L, et al. Psychiatry Res, 2016 Jul 30. PMID 27208512
    4. Lack of Association between the TSPAN18 Gene and Schizophrenia Based on New Data from Han Chinese and a Meta-Analysis. Zhang B, et al. Int J Mol Sci, 2015 May 26. PMID 26016498, Free PMC Article
    5. Tspan18 is a novel regulator of thrombo-inflammation. Gavin RL, et al. Med Microbiol Immunol, 2020 Aug. PMID 32447449, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Tspan18 is a novel regulator of thrombo-inflammation.
      Title: Tspan18 is a novel regulator of thrombo-inflammation.
    2. The findings identify Tspan18 as a novel regulator of endothelial cell Orai1/Ca2+ signaling and von Willebrand factor release in response to inflammatory stimuli.
      Title: Tspan18 is a novel regulator of the Ca(2+) channel Orai1 and von Willebrand factor release in endothelial cells.
    3. The frequency of rs11038167 minor allele (A) was significantly higher only in female patients with thought disorder. Our result suggested that the TSPAN18 gene may be involved in the development of psychotic symptoms and contribute to clinical heterogeneity of schizophrenia.
      Title: Study of the tetraspanin 18 association with schizophrenia in a Han Chinese population.
    4. Our results showed that two SNPs (rs11038167 and rs11038172) at TSPAN18, reported as genome-wide significant SCZ risk variants in Han Chinese, were entirely monomorphic in Europeans, indicating a deep between-population divergence at this gene locus.
      Title: GWAS-identified schizophrenia risk SNPs at TSPAN18 are highly diverged between Europeans and East Asians.
    5. Meta-analysis results show no significant association between TSPAN18 gene and schizophrenia in the Han Chinese population indicating the gene is unlikely to be a major susceptibility gene for schizophrenia in this population.
      Title: Lack of Association between the TSPAN18 Gene and Schizophrenia Based on New Data from Han Chinese and a Meta-Analysis.
    6. These results confirm the significant association, in Han Chinese populations, of increased SCZ risk and the variant of the TSPAN18 gene containing the 'A' allele of SNP rs835784.
      Title: Replication study confirms link between TSPAN18 mutation and schizophrenia in Han Chinese.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat FITC-labeled Tat 47-59 peptide downregulates gene expression of tetraspanin 18 (TSPAN18) in U-937 macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ14609

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in calcium-ion regulated exocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in hemostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of sprouting angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    tetraspanin-18
    Names
    tspan-18

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_130783.5 → NP_570139.3  tetraspanin-18

      See identical proteins and their annotated locations for NP_570139.3

      Status: VALIDATED

      Source sequence(s)
      AC092733, AC104241
      Consensus CDS
      CCDS7910.1
      UniProtKB/Swiss-Prot
      Q6UY44, Q8NBI9, Q96SJ8
      UniProtKB/TrEMBL
      Q8WUV1
      Related
      ENSP00000429993.2, ENST00000520358.7
      Conserved Domains (2) summary
      cd03156
      Location:105 → 218
      uroplakin_I_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), uroplakin_I_like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...
      pfam00335
      Location:10 → 243
      Tetraspannin; Tetraspanin family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      44726310..44932423
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427847.1 → XP_047283803.1  tetraspanin-18 isoform X1

    2. XM_011520459.4 → XP_011518761.1  tetraspanin-18 isoform X2

      See identical proteins and their annotated locations for XP_011518761.1

      UniProtKB/Swiss-Prot
      Q6UY44, Q8NBI9, Q96SJ8
      UniProtKB/TrEMBL
      Q8WUV1
      Conserved Domains (2) summary
      cd03156
      Location:105 → 218
      uroplakin_I_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), uroplakin_I_like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...
      pfam00335
      Location:10 → 243
      Tetraspannin; Tetraspanin family

    3. XM_047427846.1 → XP_047283802.1  tetraspanin-18 isoform X1

    4. XM_047427849.1 → XP_047283805.1  tetraspanin-18 isoform X1

    5. XM_005253217.4 → XP_005253274.1  tetraspanin-18 isoform X1

      See identical proteins and their annotated locations for XP_005253274.1

      UniProtKB/TrEMBL
      H0YB98
      Conserved Domains (2) summary
      cd03156
      Location:115 → 228
      uroplakin_I_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), uroplakin_I_like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...
      pfam00335
      Location:20 → 253
      Tetraspannin; Tetraspanin family

    6. XM_006718372.4 → XP_006718435.1  tetraspanin-18 isoform X1

      See identical proteins and their annotated locations for XP_006718435.1

      UniProtKB/TrEMBL
      H0YB98
      Conserved Domains (2) summary
      cd03156
      Location:115 → 228
      uroplakin_I_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), uroplakin_I_like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...
      pfam00335
      Location:20 → 253
      Tetraspannin; Tetraspanin family

    7. XM_047427848.1 → XP_047283804.1  tetraspanin-18 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      44883873..45089263
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001031730.1: Suppressed sequence

      Description
      NM_001031730.1: This RefSeq was permanently suppressed because the transcript is 5' partial, and its full-length nature is unknown.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96SJ8.1 GenPept UniProtKB/Swiss-Prot:Q96SJ8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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