Gene Gene information from NCBI Gene database.
Entrez ID 26262
Gene name Tetraspanin 17
Gene symbol TSPAN17
Synonyms (NCBI Gene)
FBX23FBXO23TM4SF17
Chromosome 5
Chromosome location 5q35.2
Summary This gene encodes a member of the transmembrane 4 superfamily. It is characterized by four tetraspanin transmembrane segments. The function of this gene has not yet been determined. [provided by RefSeq, Mar 2014]
miRNA miRNA information provided by mirtarbase database.
144
miRTarBase ID miRNA Experiments Reference
MIRT037387 hsa-miR-744-5p CLASH 23622248
MIRT1459600 hsa-miR-1184 CLIP-seq
MIRT1459601 hsa-miR-1197 CLIP-seq
MIRT1459602 hsa-miR-1205 CLIP-seq
MIRT1459603 hsa-miR-1207-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0008104 Process Intracellular protein localization IEA
GO:0016020 Component Membrane IEA
GO:0019899 Function Enzyme binding IPI 23091066
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620446 13594 ENSG00000048140
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96FV3
Protein name Tetraspanin-17 (Tspan-17) (F-box only protein 23) (Tetraspan protein SB134) (Transmembrane 4 superfamily member 17)
Protein function Part of TspanC8 subgroup, composed of 6 members that interact with the transmembrane metalloprotease ADAM10. This interaction is required for ADAM10 exit from the endoplasmic reticulum and for enzymatic maturation and trafficking to the cell sur
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00335 Tetraspanin 17 262 Tetraspanin family Family
Sequence
Sequence length 270
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS 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
Glioblastoma Glioblastoma Pubtator 31432186 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Multiforme Glioblastoma BEFREE 31432186
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 31432186
★☆☆☆☆
Found in Text Mining only