Gene Gene information from NCBI Gene database.
Entrez ID 90139
Gene name Tetraspanin 18
Gene symbol TSPAN18
Synonyms (NCBI Gene)
TSPAN
Chromosome 11
Chromosome location 11p11.2
miRNA miRNA information provided by mirtarbase database.
86
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619399 20660 ENSG00000157570
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY Disgenet, GenCC
Disgenet, GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBSTRUCTIVE SLEEP APNEA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ablepharon macrostomia syndrome Ablepharon macrostomia syndrome Pubtator 26637991 Associate
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 15788668
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus BEFREE 15788668
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 34065085 Associate
★☆☆☆☆
Found in Text Mining only
Deep Vein Thrombosis Thrombosis BEFREE 30573509
★☆☆☆☆
Found in Text Mining only
Esophageal carcinoma Esophageal Carcinoma BEFREE 30720116
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Esophagus Neoplasm BEFREE 30720116
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of esophagus Esophagus Neoplasm BEFREE 30720116
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 30720116
★☆☆☆☆
Found in Text Mining only
Non-Small Cell Lung Carcinoma Lung carcinoma BEFREE 27996312
★☆☆☆☆
Found in Text Mining only