Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
90139
Gene name Gene Name - the full gene name approved by the HGNC.
Tetraspanin 18
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TSPAN18
Synonyms (NCBI Gene) Gene synonyms aliases
TSPAN
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p11.2
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT049631 hsa-miR-92a-3p CLASH 23622248
MIRT040497 hsa-miR-597-5p CLASH 23622248
MIRT439384 hsa-miR-218-5p HITS-CLIP 23212916
MIRT439384 hsa-miR-218-5p HITS-CLIP 23212916
MIRT1459669 hsa-miR-1197 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 28514442, 30573509, 33961781
GO:0005886 Component Plasma membrane IBA
GO:0006954 Process Inflammatory response IEA
GO:0007599 Process Hemostasis IEA
GO:0016020 Component Membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
619399 20660 ENSG00000157570
Protein
UniProt ID Q96SJ8
Protein name Tetraspanin-18 (Tspan-18)
Protein function Plays a role in the cell surface localization of ORAI1 and may participate in the regulation of Ca(2+) signaling and the VWF release in response to inflammatory stimuli.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00335 Tetraspanin 9 246 Tetraspanin family Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in primary endothelial cells (PubMed:30573509, PubMed:32694189). Expressed in the embryo heart (PubMed:32694189). Weakly expressed the embryo skeletal muscle (PubMed:32694189). {ECO:0000269|PubMed:30573509, ECO:0000269
Sequence
Sequence length 248
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Mental retardation intellectual disability N/A N/A GenCC
Schizophrenia Schizophrenia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Ablepharon macrostomia syndrome Associate 26637991
Carcinoma Squamous Cell Associate 34065085
Neoplasm Metastasis Stimulate 37542345
Prostatic Neoplasms Associate 37542345
Schizophrenia Associate 30941828
Vascular Diseases Associate 28258189