Human Gene TSPAN5 (uc003hub.3)
  Description: Homo sapiens tetraspanin 5 (TSPAN5), mRNA.
RefSeq Summary (NM_005723): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Transcript (Including UTRs)
   Position: hg19 chr4:99,391,518-99,579,812 Size: 188,295 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr4:99,393,673-99,579,377 Size: 185,705 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:99,391,518-99,579,812)mRNA (may differ from genome)Protein (268 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedTreefamUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TSN5_HUMAN
DESCRIPTION: RecName: Full=Tetraspanin-5; Short=Tspan-5; AltName: Full=Tetraspan NET-4; AltName: Full=Transmembrane 4 superfamily member 9;
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Probable).
SIMILARITY: Belongs to the tetraspanin (TM4SF) family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): TSPAN5
CDC HuGE Published Literature: TSPAN5
Positive Disease Associations: Apolipoproteins B , Cholesterol , Cholesterol, LDL , Exercise Test , Hip , Neutrophils , Respiratory Function Tests
Related Studies:
  1. Apolipoproteins B
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
  2. Apolipoproteins B
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
  3. Apolipoproteins B
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
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-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 60.67 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 532.33 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -236.30435-0.543 Picture PostScript Text
3' UTR -655.372155-0.304 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000301 - Tetraspanin
IPR018499 - Tetraspanin/Peripherin
IPR018503 - Tetraspanin_CS
IPR008952 - Tetraspanin_EC2

Pfam Domains:
PF00335 - Tetraspanin family

SCOP Domains:
48652 - Tetraspanin

ModBase Predicted Comparative 3D Structure on P62079
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologGenome BrowserNo ortholog
Gene Details   Gene Details 
Gene Sorter   Gene Sorter 
  Ensembl WormBase 
  Protein Sequence Protein Sequence 
  Alignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0019899 enzyme binding

Biological Process:
GO:0045747 positive regulation of Notch signaling pathway
GO:0051604 protein maturation
GO:0072659 protein localization to plasma membrane

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  KJ892920 - Synthetic construct Homo sapiens clone ccsbBroadEn_02314 TSPAN5 gene, encodes complete protein.
AK295385 - Homo sapiens cDNA FLJ52496 complete cds, highly similar to Tetraspanin-5.
BC009704 - Homo sapiens tetraspanin 5, mRNA (cDNA clone MGC:9300 IMAGE:3895933), complete cds.
AF065389 - Homo sapiens tetraspan NET-4 mRNA, complete cds.
EU832172 - Synthetic construct Homo sapiens clone HAIB:100067201; DKFZo008H0325 tetraspanin 5 protein (TSPAN5) gene, encodes complete protein.
EU832265 - Synthetic construct Homo sapiens clone HAIB:100067294; DKFZo004H0326 tetraspanin 5 protein (TSPAN5) gene, encodes complete protein.
CR541809 - Homo sapiens full open reading frame cDNA clone RZPDo834F0731D for gene TM4SF9, transmembrane 4 superfamily member 9; complete cds, incl. stopcodon.
AK315723 - Homo sapiens cDNA, FLJ96826, Homo sapiens transmembrane 4 superfamily member 9 (TM4SF9), mRNA.
HQ447365 - Synthetic construct Homo sapiens clone IMAGE:100070686; CCSB000091_02 tetraspanin 5 (TSPAN5) gene, encodes complete protein.
CR541829 - Homo sapiens full open reading frame cDNA clone RZPDo834C0632D for gene TM4SF9, transmembrane 4 superfamily member 9; complete cds, without stopcodon.
AK055659 - Homo sapiens cDNA FLJ31097 fis, clone IMR321000210.
AK126702 - Homo sapiens cDNA FLJ44748 fis, clone BRACE3029005.
JD369496 - Sequence 350520 from Patent EP1572962.
JD289305 - Sequence 270329 from Patent EP1572962.
JD528704 - Sequence 509728 from Patent EP1572962.
JD232800 - Sequence 213824 from Patent EP1572962.
JD308363 - Sequence 289387 from Patent EP1572962.
JD400317 - Sequence 381341 from Patent EP1572962.
JD407210 - Sequence 388234 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B2RDY2, NM_005723, NP_005714, O60628, O60746, P62079, Q6FHE5, Q9JLY1, TM4SF9, TSN5_HUMAN
UCSC ID: uc003hub.3
RefSeq Accession: NM_005723
Protein: P62079 (aka TSN5_HUMAN)
CCDS: CCDS3646.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_005723.3
exon count: 8CDS single in 3' UTR: no RNA size: 3406
ORF size: 807CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1807.50frame shift in genome: no % Coverage: 99.74
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.