TSPAN7 (tetraspanin 7)

Gene

• Entrez ID: 7102
• Gene name: Tetraspanin 7
• Gene symbol: TSPAN7
• Synonyms (NCBI Gene): A15, CCG-B7, CD231, DXS1692E, MRX58, MXS1, TALLA-1, TM4SF2, TM4SF2b, XLID58
• Chromosome: X
• Chromosome location: Xp11.4
• 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894950	G>T	Pathogenic	Coding sequence variant, stop gained
rs104894951	C>A,G	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT037691	hsa-miR-744-5p	CLASH	23622248
MIRT1459923	hsa-miR-3175	CLIP-seq
MIRT1459924	hsa-miR-3936	CLIP-seq
MIRT1459925	hsa-miR-4419a	CLIP-seq
MIRT1459926	hsa-miR-4510	CLIP-seq
MIRT1459927	hsa-miR-4716-3p	CLIP-seq
MIRT1459928	hsa-miR-4723-5p	CLIP-seq
MIRT1459929	hsa-miR-555	CLIP-seq
MIRT2138076	hsa-miR-1587	CLIP-seq
MIRT2138077	hsa-miR-4417	CLIP-seq
MIRT2138078	hsa-miR-4463	CLIP-seq
MIRT2138079	hsa-miR-4468	CLIP-seq
MIRT2138080	hsa-miR-4492	CLIP-seq
MIRT2138081	hsa-miR-4498	CLIP-seq
MIRT2138082	hsa-miR-4656	CLIP-seq
MIRT2138083	hsa-miR-4675	CLIP-seq
MIRT2138084	hsa-miR-4741	CLIP-seq
MIRT2138085	hsa-miR-4766-5p	CLIP-seq
MIRT2138086	hsa-miR-488	CLIP-seq
MIRT2138087	hsa-miR-762	CLIP-seq
MIRT2138076	hsa-miR-1587	CLIP-seq
MIRT2138077	hsa-miR-4417	CLIP-seq
MIRT2138079	hsa-miR-4468	CLIP-seq
MIRT2138080	hsa-miR-4492	CLIP-seq
MIRT2138081	hsa-miR-4498	CLIP-seq
MIRT2138082	hsa-miR-4656	CLIP-seq
MIRT2138083	hsa-miR-4675	CLIP-seq
MIRT2138084	hsa-miR-4741	CLIP-seq
MIRT2138085	hsa-miR-4766-5p	CLIP-seq
MIRT2138086	hsa-miR-488	CLIP-seq
MIRT2138087	hsa-miR-762	CLIP-seq
MIRT2396425	hsa-miR-4279	CLIP-seq
MIRT2396426	hsa-miR-490-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	TAS	8420826
GO:0016020	Component	Membrane	IEA

Other IDs

• MIM: 300096
• HGNC: 11854
• e!Ensembl: ENSG00000156298

Protein

• UniProt ID: P41732
• Protein name: Tetraspanin-7 (Tspan-7) (Cell surface glycoprotein A15) (Membrane component chromosome X surface marker 1) (T-cell acute lymphoblastic leukemia-associated antigen 1) (TALLA-1) (Transmembrane 4 superfamily member 2) (CD antigen CD231)
• Protein function: May be involved in cell proliferation and cell motility.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00335	Tetraspanin	15 → 239	Tetraspanin family	Family

• Tissue specificity: TISSUE SPECIFICITY: Not solely expressed in T-cells. Expressed in acute myelocytic leukemia cells of some patients.
• Sequence:

  MASRRMETKPVITCLKTLLIIYSFVFWITGVILLAVGVWGKLTLGTYISLIAENSTNAPY
  VLIGTGTTIVVFGLFGCFATCRGSPWMLKLYAMFLSLVFLAELVAGISGFVFRHEIKDTF
  LRTYTDAMQTYNGNDERSRAVDHVQRSLSCCGVQNYTNWSTSPYFLEHGIPPSCCMNETD
  CNPQDLHNLTVAATKVNQKGCYDLVTSFMETNMGIIAGVAFGIAFSQLIGMLLACCLSRF
  ITANQYEMV

• Sequence length: 249

Pathways

KEGG:

Transcriptional misregulation in cancer

Reactome:

Trafficking of GluR2-containing AMPA receptors

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Intellectual disability, X-linked 58	Pathogenic	rs2147452502, rs104894950, rs2518967233	RCV001788537 RCV000012395 RCV000012397

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
History of neurodevelopmental disorder	Conflicting classifications of pathogenicity	rs104894951	RCV000721059
Intellectual disability	Uncertain significance	rs1556001023, rs752121179	RCV001252383 RCV001252384
TSPAN7-related disorder	Uncertain significance; Likely benign; Benign	rs778903482, rs752608096, rs142657644	RCV003946369 RCV003924610 RCV003968323

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	33021972, 37287976
Breast Neoplasms	Associate	35201289
Desmoplastic Small Round Cell Tumor	Associate	14633590
Developmental Disabilities	Associate	24372385
Diabetes Mellitus	Associate	20587347
Epilepsy	Associate	24372385
Epilepsy rolandic with paroxysmal exercise induced dystonia and writer's cramp	Associate	24372385
Glioma	Inhibit	36845098
Kidney Neoplasms	Stimulate	39175035
Neoplasm Metastasis	Associate	14633590
Neoplasm Metastasis	Stimulate	37591783
Neoplasms	Associate	35201289, 36845098, 39175035
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	9020185
Sarcoma	Inhibit	32084007
Stomach Neoplasms	Associate	37591783