Gene Gene information from NCBI Gene database.
Entrez ID 340348
Gene name Tetraspanin 33
Gene symbol TSPAN33
Synonyms (NCBI Gene)
PENPEN.TSPAN-33
Chromosome 7
Chromosome location 7q32.1
miRNA miRNA information provided by mirtarbase database.
94
miRTarBase ID miRNA Experiments Reference
MIRT047718 hsa-miR-10a-5p CLASH 23622248
MIRT047482 hsa-miR-10b-5p CLASH 23622248
MIRT042265 hsa-miR-484 CLASH 23622248
MIRT1459825 hsa-miR-1207-5p CLIP-seq
MIRT1459826 hsa-miR-1265 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 23091066, 26686862, 30463011, 32296183, 32814053
GO:0005737 Component Cytoplasm IEA
GO:0005788 Component Endoplasmic reticulum lumen TAS
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 23091066
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610120 28743 ENSG00000158457
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86UF1
Protein name Tetraspanin-33 (Tspan-33) (Penumbra) (hPen) (Proerythroblast new membrane)
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 22 263 Tetraspanin family Family
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in erythroblasts. {ECO:0000269|PubMed:17158226}.
Sequence
Sequence length 283
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Amyloid fiber formation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Breast Neoplasms Associate 32526247
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Associate 25201977
★☆☆☆☆
Found in Text Mining only
Glioblastoma Associate 26863628
★☆☆☆☆
Found in Text Mining only
Hyperglycemic Hyperosmolar Nonketotic Coma Associate 25201977
★☆☆☆☆
Found in Text Mining only
Myocardial Infarction Associate 40305362
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 32526247
★☆☆☆☆
Found in Text Mining only
Non ST Elevated Myocardial Infarction Associate 40305362
★☆☆☆☆
Found in Text Mining only
ST Elevation Myocardial Infarction Associate 40305362
★☆☆☆☆
Found in Text Mining only