TSPAN7

Protein identityUniProt · HPA

UniProt accession

P41732

Gene

TSPAN7

Ensembl

ENSG00000156298

Chromosome

X

Canonical length

249 aa

Protein class

CD markers, Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters

OverviewNCBI Gene

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 signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and may have a role in the control of neurite outgrowth. It is known to complex with integrins. This gene is associated with X-linked cognitive disability and neuropsychiatric diseases such as Huntington's chorea, fragile X syndrome and myotonic dystrophy. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

249 residues, UniProt reviewed canonical sequence.

>P41732|TSPAN7
     1  MASRRMETKP VITCLKTLLI IYSFVFWITG VILLAVGVWG KLTLGTYISL IAENSTNAPY
    61  VLIGTGTTIV VFGLFGCFAT CRGSPWMLKL YAMFLSLVFL AELVAGISGF VFRHEIKDTF
   121  LRTYTDAMQT YNGNDERSRA VDHVQRSLSC CGVQNYTNWS TSPYFLEHGI PPSCCMNETD
   181  CNPQDLHNLT VAATKVNQKG CYDLVTSFME TNMGIIAGVA FGIAFSQLIG MLLACCLSRF
   241  ITANQYEMV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TSPAN7 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

4

Mean surface accessibility (rSASA)

0.32

Highest tissue expression

677 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TSPAN7.

Disease | AllUniProt

Conditions TSPAN7 is implicated in, by any mechanism.

• Intellectual developmental disorder, X-linked 58 (XLID58) MIM:300210

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 114 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Intellectual disability, X-linked 58
• Lung cancer
• Thyroid cancer, nonmedullary, 1

Disease | ImmuneIEDB

Conditions an epitope on TSPAN7 was assayed in.

• lung adenocarcinoma T cell

Disease | AutoantibodyPubMed

Conditions in which antibodies against TSPAN7 are reported. Each links to that disease's full target list.

• Diabetes Mellitus, Type 1 5

ReferencesPubMed · IEDB

Publications for TSPAN7 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. IEDB — curated epitope assays from the Immune Epitope Database (Vita et al., Nucleic Acids Research 2019). Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.54

gnomAD pLI

0.75

gnomAD missense Z

1.91

DepMap mean gene effect

0.08

DepMap dependency class

none

OntologyGO

Cellular components

• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Tetraspanin, animals
• Tetraspanin, EC2 domain superfamily
• Tetraspanin/Peripherin
• Tetraspanin, conserved site
• Tetraspanin-6/7, EC2 domain
• Tetraspanin family

KeywordsUniProt

• Glycoprotein
• Host-virus interaction
• Intellectual disability
• Membrane
• Transmembrane
• Transmembrane helix