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. [provide... See more...

Aliases for TSPAN5 Gene

Aliases for TSPAN5 Gene

  • Tetraspanin 5 2 3 5
  • Transmembrane 4 Superfamily Member 9 2 3 4
  • Tetraspan NET-4 3 4
  • Tetraspanin-5 3 4
  • Tspan-5 2 4
  • TM4SF9 3 4
  • NET-4 2 3
  • Transmembrane 4 Superfamily, Member 8 3
  • Tetraspan TM4SF 3
  • TSPAN-5 3
  • TSPAN5 5
  • NET4 3

External Ids for TSPAN5 Gene

Previous HGNC Symbols for TSPAN5 Gene

  • TM4SF9

Previous GeneCards Identifiers for TSPAN5 Gene

  • GC04M099751
  • GC04M099612
  • GC04M099391
  • GC04M095128

Summaries for TSPAN5 Gene

Entrez Gene Summary for TSPAN5 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for TSPAN5 Gene

TSPAN5 (Tetraspanin 5) is a Protein Coding gene. Diseases associated with TSPAN5 include Coffin-Siris Syndrome 3 and Autosomal Dominant Non-Syndromic Intellectual Disability. Gene Ontology (GO) annotations related to this gene include enzyme binding. An important paralog of this gene is TSPAN17.

UniProtKB/Swiss-Prot Summary for TSPAN5 Gene

  • Regulates ADAM10 maturation and trafficking to the cell surface. Promotes ADAM10-mediated cleavage of CD44.

Additional gene information for TSPAN5 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TSPAN5 Gene

Genomics for TSPAN5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TSPAN5 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TSPAN5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TSPAN5

Top Transcription factor binding sites by QIAGEN in the TSPAN5 gene promoter:
  • ATF-2
  • FOXL1
  • GATA-6
  • Gfi-1
  • NF-1
  • NF-1/L
  • Nkx2-5
  • Pbx1a
  • Sox9
  • STAT5A

Genomic Locations for TSPAN5 Gene

Genomic Locations for TSPAN5 Gene
chr4:98,470,367-98,658,661
(GRCh38/hg38)
Size:
188,295 bases
Orientation:
Minus strand
chr4:99,391,518-99,579,812
(GRCh37/hg19)
Size:
188,295 bases
Orientation:
Minus strand

Genomic View for TSPAN5 Gene

Genes around TSPAN5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TSPAN5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TSPAN5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TSPAN5 Gene

Proteins for TSPAN5 Gene

  • Protein details for TSPAN5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P62079-TSN5_HUMAN
    Recommended name:
    Tetraspanin-5
    Protein Accession:
    P62079
    Secondary Accessions:
    • B2RDY2
    • O60628
    • O60746
    • Q6FHE5
    • Q9JLY1

    Protein attributes for TSPAN5 Gene

    Size:
    268 amino acids
    Molecular mass:
    30337 Da
    Quaternary structure:
    • Interacts with ADAM10.

neXtProt entry for TSPAN5 Gene

Post-translational modifications for TSPAN5 Gene

  • Glycosylation at Asn49, Asn169, Asn174, and Asn232
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TSPAN5 Gene

Domains & Families for TSPAN5 Gene

Gene Families for TSPAN5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TSPAN5 Gene

InterPro:
Blocks:
  • Transmembrane four family signature
ProtoNet:

Suggested Antigen Peptide Sequences for TSPAN5 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52496, highly similar to Tetraspanin-5 (B7Z317_HUMAN)
  • TM4SF9 protein (Q6FHC5_HUMAN)
  • Transmembrane 4 superfamily member 9 (TSN5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P62079

UniProtKB/Swiss-Prot:

TSN5_HUMAN :
  • Belongs to the tetraspanin (TM4SF) family.
Family:
  • Belongs to the tetraspanin (TM4SF) family.
genes like me logo Genes that share domains with TSPAN5: view

Function for TSPAN5 Gene

Molecular function for TSPAN5 Gene

UniProtKB/Swiss-Prot Function:
Regulates ADAM10 maturation and trafficking to the cell surface. Promotes ADAM10-mediated cleavage of CD44.

Phenotypes From GWAS Catalog for TSPAN5 Gene

Gene Ontology (GO) - Molecular Function for TSPAN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23091066
GO:0019899 enzyme binding IEA,IPI 23091066
genes like me logo Genes that share ontologies with TSPAN5: view

Phenotypes for TSPAN5 Gene

GenomeRNAi human phenotypes for TSPAN5:
genes like me logo Genes that share phenotypes with TSPAN5: view

Animal Model Products

  • Taconic Biosciences Mouse Models for TSPAN5

CRISPR Products

miRNA for TSPAN5 Gene

miRTarBase miRNAs that target TSPAN5

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TSPAN5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TSPAN5 Gene

Localization for TSPAN5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TSPAN5 Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
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 TSPAN5 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endosome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for TSPAN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TSPAN5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TSPAN5 Gene

Pathways & Interactions for TSPAN5 Gene

PathCards logo

SuperPathways for TSPAN5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TSPAN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044267 cellular protein metabolic process TAS --
GO:0045747 positive regulation of Notch signaling pathway IMP 23091066
GO:0051604 protein maturation IEA,IMP 23091066
GO:0072659 protein localization to plasma membrane IMP 23091066
genes like me logo Genes that share ontologies with TSPAN5: view

No data available for Pathways by source and SIGNOR curated interactions for TSPAN5 Gene

Drugs & Compounds for TSPAN5 Gene

(2) Drugs for TSPAN5 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Citalopram Approved Pharma 597
Escitalopram Approved Pharma 0
genes like me logo Genes that share compounds with TSPAN5: view

Transcripts for TSPAN5 Gene

mRNA/cDNA for TSPAN5 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TSPAN5

Alternative Splicing Database (ASD) splice patterns (SP) for TSPAN5 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1: -
SP2: - - -
SP3: - -
SP4:

Relevant External Links for TSPAN5 Gene

GeneLoc Exon Structure for
TSPAN5

Expression for TSPAN5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TSPAN5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TSPAN5 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x4.8).

Protein differential expression in normal tissues from HIPED for TSPAN5 Gene

This gene is overexpressed in Ovary (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TSPAN5 Gene



Protein tissue co-expression partners for TSPAN5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TSPAN5

SOURCE GeneReport for Unigene cluster for TSPAN5 Gene:

Hs.118118

Evidence on tissue expression from TISSUES for TSPAN5 Gene

  • Skin(4.7)
  • Nervous system(4.5)
  • Pancreas(4)
  • Blood(2.4)
genes like me logo Genes that share expression patterns with TSPAN5: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TSPAN5 Gene

Orthologs for TSPAN5 Gene

This gene was present in the common ancestor of animals.

Orthologs for TSPAN5 Gene

Organism Taxonomy Gene Similarity Type Details
Oppossum
(Monodelphis domestica)
Mammalia TSPAN5 31
  • 100 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia TSPAN5 30 31
  • 99.88 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TSPAN5 30 31
  • 95.65 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TSPAN5 30 31
  • 94.53 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tspan5 30 17 31
  • 93.16 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tspan5 30
  • 92.66 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia TSPAN5 31
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TSPAN5 30 31
  • 88.93 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TSPAN5 31
  • 99 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tspan5 30
  • 82.96 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.21892 30
Zebrafish
(Danio rerio)
Actinopterygii tspan5b 31 31
  • 85 (a)
OneToMany
tspan5a 30 31
  • 79.15 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Tsp26A 31
  • 37 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea tsp-12 30 31
  • 50.84 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 38 (a)
OneToMany
Species where no ortholog for TSPAN5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 TSPAN5 Gene

ENSEMBL:
Gene Tree for TSPAN5 (if available)
TreeFam:
Gene Tree for TSPAN5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TSPAN5: view image

Paralogs for TSPAN5 Gene

(21) SIMAP similar genes for TSPAN5 Gene using alignment to 7 proteins:

  • TSN5_HUMAN
  • B7Z317_HUMAN
  • D6R9N6_HUMAN
  • D6RAR1_HUMAN
  • D6RBT5_HUMAN
  • D6RGZ7_HUMAN
  • H0Y8W4_HUMAN
genes like me logo Genes that share paralogs with TSPAN5: view

Variants for TSPAN5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TSPAN5 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
710954 Benign: not provided 98,472,597(-) G/A INTRON_VARIANT
786042 Benign: not provided 98,478,706(-) G/A SYNONYMOUS_VARIANT
rs193921080 Uncertain Significance: Malignant tumor of prostate 98,486,749(-) G/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for TSPAN5 Gene

Structural Variations from Database of Genomic Variants (DGV) for TSPAN5 Gene

Variant ID Type Subtype PubMed ID
dgv1516e212 CNV loss 25503493
esv2760882 CNV gain 21179565
esv2763801 CNV gain 21179565
esv3305485 CNV mobile element insertion 20981092
esv3339311 CNV insertion 20981092
esv3601538 CNV loss 21293372
esv3601539 CNV loss 21293372
esv3601540 CNV loss 21293372
esv3601541 CNV loss 21293372
esv3893996 CNV loss 25118596
nsv1004181 CNV gain 25217958
nsv474755 CNV novel sequence insertion 20440878
nsv594940 CNV gain 21841781

Variation tolerance for TSPAN5 Gene

Residual Variation Intolerance Score: 22.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.16; 3.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TSPAN5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TSPAN5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TSPAN5 Gene

Disorders for TSPAN5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TSPAN5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
coffin-siris syndrome 3
  • css3
autosomal dominant non-syndromic intellectual disability
  • autosomal dominant mental retardation
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TSPAN5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with TSPAN5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TSPAN5 Gene

Publications for TSPAN5 Gene

  1. TspanC8 tetraspanins differentially regulate the cleavage of ADAM10 substrates, Notch activation and ADAM10 membrane compartmentalization. (PMID: 26686862) Jouannet S … Rubinstein E (Cellular and molecular life sciences : CMLS 2016) 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. 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
  5. 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

Products for TSPAN5 Gene

Sources for TSPAN5 Gene