TSPAN4 (tetraspanin 4)

Gene

• Entrez ID: 7106
• Gene name: Tetraspanin 4
• Gene symbol: TSPAN4
• Synonyms (NCBI Gene): NAG-2, NAG2, TETRASPAN, TM4SF7, TSPAN-4
• Chromosome: 11
• Chromosome location: 11p15.5
• Summary: The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004983	hsa-miR-1-3p	Microarray	15685193
MIRT004983	hsa-miR-1-3p	Microarray	15685193
MIRT2138008	hsa-miR-1	CLIP-seq
MIRT2138009	hsa-miR-1225-3p	CLIP-seq
MIRT2138010	hsa-miR-206	CLIP-seq
MIRT2138011	hsa-miR-3180-5p	CLIP-seq
MIRT2138012	hsa-miR-3673	CLIP-seq
MIRT2138013	hsa-miR-3688-3p	CLIP-seq
MIRT2138014	hsa-miR-4301	CLIP-seq
MIRT2138015	hsa-miR-4323	CLIP-seq
MIRT2138016	hsa-miR-4426	CLIP-seq
MIRT2138017	hsa-miR-4647	CLIP-seq
MIRT2138018	hsa-miR-4662b	CLIP-seq
MIRT2138019	hsa-miR-4733-3p	CLIP-seq
MIRT2138020	hsa-miR-4758-3p	CLIP-seq
MIRT2138021	hsa-miR-501-3p	CLIP-seq
MIRT2138022	hsa-miR-502-3p	CLIP-seq
MIRT2138023	hsa-miR-613	CLIP-seq
MIRT2138024	hsa-miR-665	CLIP-seq
MIRT2138025	hsa-miR-767-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003823	Function	Antigen binding	IDA	9360996
GO:0005178	Function	Integrin binding	IPI	9360996
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	9360996
GO:0005886	Component	Plasma membrane	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0016020	Component	Membrane	IEA
GO:0031982	Component	Vesicle	IDA	9360996
GO:0065003	Process	Protein-containing complex assembly	IDA	9360996

Other IDs

• MIM: 602644
• HGNC: 11859
• e!Ensembl: ENSG00000214063

Protein

• UniProt ID: O14817
• Protein name: Tetraspanin-4 (Tspan-4) (Novel antigen 2) (NAG-2) (Transmembrane 4 superfamily member 7)
• Protein function: Structural component of specialized membrane microdomains known as tetraspanin-enriched microdomains (TERMs), which act as platforms for receptor clustering and signaling. Plays an essential role in migrasome formation and migration on retractin
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00335	Tetraspanin	9 → 229	Tetraspanin family	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in multiple tissues but is absent in brain, lymphoid cells, and platelets.
• Sequence:

  MARACLQAVKYLMFAFNLLFWLGGCGVLGVGIWLAATQGSFATLSSSFPSLSAANLLIIT
  GAFVMAIGFVGCLGAIKENKCLLLTFFLLLLLVFLLEATIAILFFAYTDKIDRYAQQDLK
  KGLHLYGTQGNVGLTNAWSIIQTDFRCCGVSNYTDWFEVYNATRVPDSCCLEFSESCGLH
  APGTWWKAPCYETVKVWLQENLLAVGIFGLCTALVQILGLTFAMTMYCQVVKADTYCA

• Sequence length: 238

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	27890644		★☆☆☆☆ Found in Text Mining only
Anaplastic Ependymoma	Anaplastic Ependymoma	BEFREE	27401149		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	27562213		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	27562213	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Exstrophy	Bladder exstrophy	Pubtator	34355505	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	33083497	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	27401149		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	37587203	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37587203	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	29584762		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	29584762	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22585360		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	40443671	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31285951		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30106120	Associate	★☆☆☆☆ Found in Text Mining only
Vitreoretinopathy Proliferative	Vitreoretinopathy	Pubtator	36494806	Associate	★☆☆☆☆ Found in Text Mining only