Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TSPAN7 Gene

Aliases for TSPAN7 Gene

  • Tetraspanin 7 2 3 5
  • Transmembrane 4 Superfamily Member 2 2 3 4
  • Membrane Component Chromosome X Surface Marker 1 3 4
  • Cell Surface Glycoprotein A15 3 4
  • CD231 Antigen 3 4
  • DXS1692E 3 4
  • Tspan-7 3 4
  • TALLA-1 3 4
  • TM4SF2 3 4
  • MXS1 3 4
  • A15 3 4
  • T-Cell Acute Lymphoblastic Leukemia Associated Antigen 1 3
  • T-Cell Acute Lymphoblastic Leukemia-Associated Antigen 1 4
  • Membrane Component, X Chromosome, Surface Marker 1 3
  • Mental Retardation, X-Linked 58 2
  • Transmembrane 4 Superfamily 2b 3
  • Transmembrane Protein A15 3
  • Tetraspanin Protein 3
  • Tetraspanin-7 3
  • TM4SF2b 3
  • CCG-B7 3
  • CD231 3
  • MRX58 3

External Ids for TSPAN7 Gene

Previous HGNC Symbols for TSPAN7 Gene

  • MXS1
  • TM4SF2
  • MRX58

Previous GeneCards Identifiers for TSPAN7 Gene

  • GC00U921555
  • GC0XP038177
  • GC0XP038305
  • GC0XP037208
  • GC0XP038420
  • GC0XP036165

Summaries for TSPAN7 Gene

Entrez Gene Summary for TSPAN7 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]

GeneCards Summary for TSPAN7 Gene

TSPAN7 (Tetraspanin 7) is a Protein Coding gene. Diseases associated with TSPAN7 include X-Linked Non-Specific Intellectual Disability and Acute Apical Periodontitis. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Transmission across Chemical Synapses. An important paralog of this gene is ENSG00000250349.

UniProtKB/Swiss-Prot for TSPAN7 Gene

  • May be involved in cell proliferation and cell motility.

Gene Wiki entry for TSPAN7 Gene

Additional gene information for TSPAN7 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TSPAN7 Gene

Genomics for TSPAN7 Gene

GeneHancer (GH) Regulatory Elements for TSPAN7 Gene

Promoters and enhancers for TSPAN7 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI038560 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 554.6 +1.0 965 3.1 FOXA2 KLF17 THRB GLIS2 ATF7 RXRA ZBTB2 CEBPB ZNF398 ZEB2 TSPAN7 LOC392442 RNU7-7P
GH0XI038061 Enhancer 1 ENCODE 10 -499.8 -499847 0.2 PKNOX1 ARNT FEZF1 ZNF2 GLIS2 ZNF213 KLF7 FOS KLF13 SP3 TSPAN7 GC0XM038060 GC0XM038061 MIR548AJ2 SYTL5 ENSG00000250349
GH0XI038634 Enhancer 1.4 Ensembl ENCODE dbSUPER 4.1 +75.3 75333 4.8 PKNOX1 FOXA2 ARNT FEZF1 TCF12 ZNF766 GATA2 ATF7 SP5 NCOA1 TSPAN7 PIR52817 GC0XM038640 GC0XP038609
GH0XI038652 Enhancer 1.2 ENCODE dbSUPER 4.2 +92.0 92019 1.7 PKNOX1 SMAD1 ATF1 ARNT NCOA2 TCF12 ZNF766 GATA2 E2F8 FOS TSPAN7 GC0XM038640 PIR52817 ENSG00000235806
GH0XI038648 Enhancer 0.7 dbSUPER 4.2 +88.7 88726 2.4 STAT1 SMAD1 MTA2 NFIB TEAD4 TAL1 DACH1 CBFA2T3 EP300 NCOA2 TSPAN7 GC0XM038640 PIR52817 ENSG00000235806
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TSPAN7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TSPAN7 gene promoter:

Genomic Locations for TSPAN7 Gene

Genomic Locations for TSPAN7 Gene
127,551 bases
Plus strand

Genomic View for TSPAN7 Gene

Genes around TSPAN7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TSPAN7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TSPAN7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TSPAN7 Gene

Proteins for TSPAN7 Gene

  • Protein details for TSPAN7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B2R5W7
    • D3DWB1
    • Q8WVG5
    • Q9UEY9

    Protein attributes for TSPAN7 Gene

    249 amino acids
    Molecular mass:
    27574 Da
    Quaternary structure:
    • Interacts with herpes simplex virus 1 (HHV-1) UL35.
    • Sequence=BAA01501.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA06191.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for TSPAN7 Gene

Post-translational modifications for TSPAN7 Gene

  • Glycosylation at posLast=5454, posLast=155155, isoforms=158, isoforms=177, and isoforms=188
  • Modification sites at PhosphoSitePlus

Other Protein References for TSPAN7 Gene

No data available for DME Specific Peptides for TSPAN7 Gene

Domains & Families for TSPAN7 Gene

Gene Families for TSPAN7 Gene

Human Protein Atlas (HPA):
  • CD markers
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the tetraspanin (TM4SF) family.
  • Belongs to the tetraspanin (TM4SF) family.
genes like me logo Genes that share domains with TSPAN7: view

Function for TSPAN7 Gene

Molecular function for TSPAN7 Gene

UniProtKB/Swiss-Prot Function:
May be involved in cell proliferation and cell motility.

Phenotypes for TSPAN7 Gene

genes like me logo Genes that share phenotypes with TSPAN7: view

Human Phenotype Ontology for TSPAN7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TSPAN7 Gene

MGI Knock Outs for TSPAN7:

Animal Model Products

CRISPR Products

miRNA for TSPAN7 Gene

miRTarBase miRNAs that target TSPAN7

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for TSPAN7 Gene

Localization for TSPAN7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TSPAN7 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TSPAN7 gene
Compartment Confidence
plasma membrane 5
nucleus 1

Gene Ontology (GO) - Cellular Components for TSPAN7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane TAS 8420826
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TSPAN7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TSPAN7 Gene

Pathways & Interactions for TSPAN7 Gene

genes like me logo Genes that share pathways with TSPAN7: view

Interacting Proteins for TSPAN7 Gene

Gene Ontology (GO) - Biological Process for TSPAN7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007166 cell surface receptor signaling pathway IBA --
GO:0016032 viral process IEA --
genes like me logo Genes that share ontologies with TSPAN7: view

No data available for SIGNOR curated interactions for TSPAN7 Gene

Drugs & Compounds for TSPAN7 Gene

(1) Drugs for TSPAN7 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for TSPAN7 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TSPAN7: view

Transcripts for TSPAN7 Gene

Unigene Clusters for TSPAN7 Gene

Tetraspanin 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TSPAN7 Gene

No ASD Table

Relevant External Links for TSPAN7 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TSPAN7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TSPAN7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TSPAN7 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x5.1), Brain - Putamen (basal ganglia) (x4.9), Brain - Frontal Cortex (BA9) (x4.8), Brain - Caudate (basal ganglia) (x4.6), and Brain - Anterior cingulate cortex (BA24) (x4.3).

Protein differential expression in normal tissues from HIPED for TSPAN7 Gene

This gene is overexpressed in Pancreas (12.8), Frontal cortex (11.9), Cervix (9.9), Adrenal (8.0), and Brain (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TSPAN7 Gene

Protein tissue co-expression partners for TSPAN7 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TSPAN7 Gene:


SOURCE GeneReport for Unigene cluster for TSPAN7 Gene:


mRNA Expression by UniProt/SwissProt for TSPAN7 Gene:

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

Evidence on tissue expression from TISSUES for TSPAN7 Gene

  • Nervous system(5)
  • Blood(4.4)
  • Eye(2.8)
  • Muscle(2.8)
  • Lung(2.5)
  • Pancreas(2.2)
  • Heart(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TSPAN7 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • salivary gland
  • skull
  • tooth
  • lung
  • rib
  • rib cage
  • pelvis
  • testicle
  • urinary bladder
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with TSPAN7: view

Orthologs for TSPAN7 Gene

This gene was present in the common ancestor of animals.

Orthologs for TSPAN7 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TSPAN7 33 34
  • 100 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 96 (a)
-- 34
  • 70 (a)
(Canis familiaris)
Mammalia TSPAN7 33
  • 94.11 (n)
-- 34
  • 85 (a)
(Rattus norvegicus)
Mammalia Tspan7 33
  • 93.51 (n)
(Bos Taurus)
Mammalia TSPAN7 33 34
  • 93.44 (n)
(Mus musculus)
Mammalia Tspan7 33 16 34
  • 93.44 (n)
Gm5334 34
  • 64 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 74 (a)
(Gallus gallus)
Aves -- 34
  • 83 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 93 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tspan7 33
  • 79.52 (n)
MGC76243 33
African clawed frog
(Xenopus laevis)
Amphibia tm4sf2-prov 33
(Danio rerio)
Actinopterygii tspan7b 33 34
  • 77.24 (n)
wufb53h11 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.702 33
(Caenorhabditis elegans)
Secernentea tsp-14 34
  • 13 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7928 34
  • 38 (a)
Species where no ortholog for TSPAN7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TSPAN7 Gene

Gene Tree for TSPAN7 (if available)
Gene Tree for TSPAN7 (if available)

Paralogs for TSPAN7 Gene

genes like me logo Genes that share paralogs with TSPAN7: view

Variants for TSPAN7 Gene

Sequence variations from dbSNP and Humsavar for TSPAN7 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs104894950 pathogenic, Mental retardation 58, X-linked 38,681,258(+) G/T coding_sequence_variant, stop_gained
rs104894951 pathogenic, Mental retardation 58, X-linked, Mental retardation, X-linked 58 (MRX58) [MIM:300210] 38,675,778(+) C/A/G coding_sequence_variant, missense_variant
rs111440990 likely-benign, not specified 38,674,316(+) C/T coding_sequence_variant, synonymous_variant
rs7049247 likely-benign, not specified 38,666,276(+) T/C coding_sequence_variant, synonymous_variant
rs201047637 uncertain-significance, not specified 38,674,291(+) G/A coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for TSPAN7 Gene

Variant ID Type Subtype PubMed ID
dgv2280e212 CNV gain 25503493
nsv477861 CNV novel sequence insertion 20440878
nsv520210 CNV gain 19592680

Variation tolerance for TSPAN7 Gene

Residual Variation Intolerance Score: 41.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.02; 0.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TSPAN7 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TSPAN7 Gene

Disorders for TSPAN7 Gene

MalaCards: The human disease database

(9) MalaCards diseases for TSPAN7 Gene - From: HGMD, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
x-linked non-specific intellectual disability
  • x-linked non-syndromic intellectual disability
acute apical periodontitis
  • acute apical periodontitis of pulpal origin
miliaria rubra
  • miliaria crystallina
fragile x syndrome
  • fxs
- elite association - COSMIC cancer census association via MalaCards


  • Mental retardation, X-linked 58 (MRX58) [MIM:300210]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269 PubMed:10655063}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TSPAN7

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TSPAN7: view

No data available for Genatlas for TSPAN7 Gene

Publications for TSPAN7 Gene

  1. A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. (PMID: 10655063) Zemni R … Chelly J (Nature genetics 2000) 3 4 22 58
  2. Egress of HSV-1 capsid requires the interaction of VP26 and a cellular tetraspanin membrane protein. (PMID: 20630051) Wang L … Li Q (Virology journal 2010) 3 4 58
  3. Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. (PMID: 19736351) Guilmatre A … Campion D (Archives of general psychiatry 2009) 3 44 58
  4. Novel partners of SPAG11B isoform D in the human male reproductive tract. (PMID: 19535787) Radhakrishnan Y … French FS (Biology of reproduction 2009) 3 22 58
  5. Modulation of human immunodeficiency virus type 1 infectivity through incorporation of tetraspanin proteins. (PMID: 17989173) Sato K … Koyanagi Y (Journal of virology 2008) 3 22 58

Products for TSPAN7 Gene

Sources for TSPAN7 Gene

Loading form....