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Aliases for TSPAN4 Gene

Aliases for TSPAN4 Gene

  • Tetraspanin 4 2 3 5
  • Transmembrane 4 Superfamily Member 7 2 3 4
  • Novel Antigen 2 3 4
  • TM4SF7 3 4
  • NAG-2 3 4
  • NAG2 3 4
  • Tetraspan TM4SF 3
  • Tetraspanin-4 3
  • TSPAN-4 3
  • Tspan-4 4

External Ids for TSPAN4 Gene

Previous HGNC Symbols for TSPAN4 Gene

  • TM4SF7

Previous GeneCards Identifiers for TSPAN4 Gene

  • GC00U921553
  • GC11P000833
  • GC11P000658

Summaries for TSPAN4 Gene

Entrez Gene Summary for TSPAN4 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 is similar in sequence to its family member CD53 antigen. It is known to complex with integrins and other transmembrane 4 superfamily proteins. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for TSPAN4 Gene

TSPAN4 (Tetraspanin 4) is a Protein Coding gene. Diseases associated with TSPAN4 include Congenital Hypomyelination Neuropathy and Deafness, Autosomal Recessive 67. Gene Ontology (GO) annotations related to this gene include integrin binding and antigen binding. An important paralog of this gene is TSPAN9.

Gene Wiki entry for TSPAN4 Gene

Additional gene information for TSPAN4 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TSPAN4 Gene

Genomics for TSPAN4 Gene

GeneHancer (GH) Regulatory Elements for TSPAN4 Gene

Promoters and enhancers for TSPAN4 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
GH11J000839 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 674.8 +1.0 973 7.6 HDGF PKNOX1 CLOCK SMAD1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 TSPAN4 POLR2L GC11M000841 CD151 TMEM80 PIDD1 SNORA52 RPLP2 ENSG00000255237 RIC8A
GH11J000849 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 650.4 +7.3 7287 2.5 HDGF ZBTB10 CTCF MXI1 USF1 SIN3A GATAD2B ZIC2 ZBTB7B ZNF335 TSPAN4 CD151 CHID1 POLR2L ENSG00000250397
GH11J001301 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 25.7 +464.0 464008 10.7 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 TOLLIP TSPAN4 SNORA52 ENSG00000255237 RPLP2 TMEM80 PHRF1 RNH1 PIDD1 PNPLA2
GH11J000574 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 22.6 -264.4 -264427 6.9 HDGF PKNOX1 FOXA2 SMAD1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 PHRF1 TMEM80 SNORA52 BET1L ENSG00000255237 RIC8A TSPAN4 PSMD13 PIDD1 RPLP2
GH11J000324 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 25.5 -514.8 -514806 8 HDGF PKNOX1 SMAD1 ARNT IRF4 YY1 POLR2B ZNF766 CBX5 E2F8 ENSG00000270030 LOC105376505 IFITM3 LOC105376504 TMEM80 RIC8A PHRF1 PIDD1 SNORA52 TSPAN4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TSPAN4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TSPAN4 gene promoter:
  • Egr-4
  • POU2F1
  • AP-4

Genomic Locations for TSPAN4 Gene

Genomic Locations for TSPAN4 Gene
24,309 bases
Plus strand
24,309 bases
Plus strand

Genomic View for TSPAN4 Gene

Genes around TSPAN4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TSPAN4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TSPAN4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TSPAN4 Gene

Proteins for TSPAN4 Gene

  • Protein details for TSPAN4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q6IAP6

    Protein attributes for TSPAN4 Gene

    238 amino acids
    Molecular mass:
    26118 Da
    Quaternary structure:
    • Forms a complex with integrins.

neXtProt entry for TSPAN4 Gene

Post-translational modifications for TSPAN4 Gene

  • Glycosylation at posLast=161161 and isoforms=152
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TSPAN4 Gene

Domains & Families for TSPAN4 Gene

Gene Families for TSPAN4 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for TSPAN4 Gene

GenScript: Design optimal peptide antigens:

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 TSPAN4: view

Function for TSPAN4 Gene

Phenotypes From GWAS Catalog for TSPAN4 Gene

Gene Ontology (GO) - Molecular Function for TSPAN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003823 antigen binding IDA 9360996
GO:0005178 integrin binding IPI 9360996
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with TSPAN4: view
genes like me logo Genes that share phenotypes with TSPAN4: view

Animal Model Products

  • Taconic Biosciences Mouse Models for TSPAN4

CRISPR Products

miRNA for TSPAN4 Gene

miRTarBase miRNAs that target TSPAN4

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TSPAN4 Gene

Localization for TSPAN4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TSPAN4 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 TSPAN4 gene
Compartment Confidence
plasma membrane 5
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1

Gene Ontology (GO) - Cellular Components for TSPAN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA 9360996
GO:0005887 integral component of plasma membrane IBA --
GO:0005925 focal adhesion HDA 21423176
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TSPAN4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TSPAN4 Gene

Pathways & Interactions for TSPAN4 Gene

SuperPathways for TSPAN4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TSPAN4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007166 cell surface receptor signaling pathway IBA --
GO:0065003 protein-containing complex assembly IDA 9360996
genes like me logo Genes that share ontologies with TSPAN4: view

No data available for Pathways by source and SIGNOR curated interactions for TSPAN4 Gene

Drugs & Compounds for TSPAN4 Gene

No Compound Related Data Available

Transcripts for TSPAN4 Gene

Unigene Clusters for TSPAN4 Gene

Tetraspanin 4:
Representative Sequences:

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TSPAN4 Gene

No ASD Table

Relevant External Links for TSPAN4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TSPAN4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TSPAN4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TSPAN4 Gene

This gene is overexpressed in Prostate (15.3), Lung (12.5), and Spleen (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TSPAN4 Gene

NURSA nuclear receptor signaling pathways regulating expression of TSPAN4 Gene:


SOURCE GeneReport for Unigene cluster for TSPAN4 Gene:


mRNA Expression by UniProt/SwissProt for TSPAN4 Gene:

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

Evidence on tissue expression from TISSUES for TSPAN4 Gene

  • Lung(4.5)
  • Liver(4.2)
  • Nervous system(3.6)
  • Kidney(2.3)
  • Skin(2.3)
  • Heart(2)
genes like me logo Genes that share expression patterns with TSPAN4: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for TSPAN4 Gene

Orthologs for TSPAN4 Gene

This gene was present in the common ancestor of animals.

Orthologs for TSPAN4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TSPAN4 34 33
  • 99.58 (n)
(Bos Taurus)
Mammalia TSPAN4 34 33
  • 90.2 (n)
(Mus musculus)
Mammalia Tspan4 16 34 33
  • 87.25 (n)
(Monodelphis domestica)
Mammalia TSPAN4 34
  • 87 (a)
(Canis familiaris)
Mammalia TSPAN4 34 33
  • 86.97 (n)
(Rattus norvegicus)
Mammalia Tspan4 33
  • 86.69 (n)
(Gallus gallus)
Aves TSPAN4 34 33
  • 78.43 (n)
(Anolis carolinensis)
Reptilia TSPAN4 34
  • 74 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492951 33
  • 76.33 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23670 33
(Danio rerio)
Actinopterygii tspan4a 34 33
  • 73.95 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9843 33
fruit fly
(Drosophila melanogaster)
Insecta Tsp5D 34
  • 26 (a)
(Caenorhabditis elegans)
Secernentea tsp-8 34
  • 26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 32 (a)
Species where no ortholog for TSPAN4 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 TSPAN4 Gene

Gene Tree for TSPAN4 (if available)
Gene Tree for TSPAN4 (if available)
Evolutionary constrained regions (ECRs) for TSPAN4: view image

Paralogs for TSPAN4 Gene

Paralogs for TSPAN4 Gene

(19) SIMAP similar genes for TSPAN4 Gene using alignment to 8 proteins:

  • E9PN41_HUMAN
  • J3KQ42_HUMAN
genes like me logo Genes that share paralogs with TSPAN4: view

Variants for TSPAN4 Gene

Sequence variations from dbSNP and Humsavar for TSPAN4 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
VAR_036616 A breast cancer sample p.Ile67Met
rs1000141388 -- 852,064(+) G/T intron_variant
rs1000218968 -- 845,084(+) C/G/T intron_variant
rs1000285576 -- 861,438(+) C/T intron_variant
rs1000390673 -- 847,480(+) G/A/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TSPAN4 Gene

Variant ID Type Subtype PubMed ID
dgv1013n100 CNV gain 25217958
dgv1526n54 CNV gain 21841781
dgv175e214 CNV gain 21293372
dgv182e199 CNV deletion 23128226
esv2669189 CNV deletion 23128226
esv2743874 CNV deletion 23290073
esv2743876 CNV deletion 23290073
esv2743877 CNV deletion 23290073
esv2743878 CNV deletion 23290073
esv2759794 CNV loss 17122850
esv29561 CNV loss 19812545
esv3625084 CNV loss 21293372
esv3625086 CNV loss 21293372
esv3625087 CNV gain 21293372
nsv1040044 CNV gain+loss 25217958
nsv1048774 CNV gain 25217958
nsv1131018 CNV deletion 24896259
nsv1159791 CNV deletion 26073780
nsv469923 CNV loss 18288195
nsv552871 CNV loss 21841781
nsv552874 CNV gain 21841781
nsv552887 CNV loss 21841781
nsv552888 CNV loss 21841781
nsv832044 CNV loss 17160897
nsv8760 CNV loss 18304495
nsv951272 CNV deletion 24416366

Variation tolerance for TSPAN4 Gene

Residual Variation Intolerance Score: 69% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.24; 40.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TSPAN4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TSPAN4 Gene

Disorders for TSPAN4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TSPAN4 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TSPAN4

genes like me logo Genes that share disorders with TSPAN4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TSPAN4 Gene

Publications for TSPAN4 Gene

  1. NAG-2, a novel transmembrane-4 superfamily (TM4SF) protein that complexes with integrins and other TM4SF proteins. (PMID: 9360996) Tachibana I … Hemler ME (The Journal of biological chemistry 1997) 2 3 4 22 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Sequences and expression of six new members of the tetraspanin/TM4SF family. (PMID: 9714763) Todd SC … Levy S (Biochimica et biophysica acta 1998) 3 4 58
  5. Cell Surface Proteomic Map of HIV Infection Reveals Antagonism of Amino Acid Metabolism by Vpu and Nef. (PMID: 26439863) Matheson NJ … Lehner PJ (Cell host & microbe 2015) 3 58

Products for TSPAN4 Gene

Sources for TSPAN4 Gene

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