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TM4SF5 Gene

protein-coding   GIFtS: 49
GCID: GC17P004675

Transmembrane 4 L Six Family Member 5

(Previous name: transmembrane 4 superfamily member 5)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Transmembrane 4 L Six Family Member 51 2
Transmembrane 4 Superfamily Member 51 2
Tetraspan Transmembrane Protein L6H2 3
Transmembrane 4 L6 Family Member 52

External Ids:    HGNC: 118571   Entrez Gene: 90322   Ensembl: ENSG000001424847   OMIM: 6046575   UniProtKB: O148943   
ORGUL members:         

Export aliases for TM4SF5 gene to outside databases

Previous GC identifers: GC17P005102 GC17P005020 GC17P004625 GC17P004881 GC17P004621 GC17P004563


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TM4SF5 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 highly
similar in sequence and structure to transmembrane 4 superfamily member 1. It may play a role in cell
proliferation, and overexpression of this protein may be associated with the uncontrolled growth of tumour cells.
(provided by RefSeq, Jul 2008)

GeneCards Summary for TM4SF5 Gene:
TM4SF5 (transmembrane 4 L six family member 5) is a protein-coding gene. Diseases associated with TM4SF5 include pancreatic cancer, and atherosclerosis. An important paralog of this gene is ENSG00000273331.

Gene Wiki entry for TM4SF5 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NC_018928.2  NT_010718.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the TM4SF5 gene promoter:
         PPAR-alpha   NF-1   NF-kappaB2   RelA   LCR-F1   NF-kappaB   NF-kappaB1   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTM4SF5 promoter sequence
   Search Chromatin IP Primers for TM4SF5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TM4SF5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.3   Ensembl cytogenetic band:  17p13.2   HGNC cytogenetic band: 17p13.3

TM4SF5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TM4SF5 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P004675:  view genomic region     (about GC identifiers)

Start:
4,675,179 bp from pter      End:
4,686,506 bp from pter
Size:
11,328 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: T4S5_HUMAN, O14894 (See protein sequence)
Recommended Name: Transmembrane 4 L6 family member 5  
Size: 197 amino acids; 20823 Da
Secondary accessions: Q17RW9 Q6IB79

Explore the universe of human proteins at neXtProt for TM4SF5: NX_O14894

Explore proteomics data for TM4SF5 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn138, Asn155

  • See TM4SF5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003954.2  
    ENSEMBL proteins: 
     ENSP00000270560  

    TM4SF5 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR008661 L6_membrane

    Graphical View of Domain Structure for InterPro Entry O14894

    ProtoNet protein and cluster: O14894

    1 Blocks protein domain: IPB008661 L6 membrane

    UniProtKB/Swiss-Prot: T4S5_HUMAN, O14894
    Similarity: Belongs to the L6 tetraspanin family


    TM4SF5 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:
         Genatlas biochemistry entry for TM4SF5:
    transmembrane 4 superfamily,member 5 (tetraspanin family),overexpressed in pancreas cancer,highly homolog to the
    tumor associated antigen L6

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TM4SF5
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    T4S5_HUMAN, O14894: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol1
    extracellular1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral component of plasma membrane TAS9479038
    GO:0016021integral component of membrane ----

    TM4SF5 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TM4SF5
    Interactions:

        GeneGlobe Interaction Network for TM4SF5

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TM4SF5 (T4S5)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TM4SF5 gene: 
    NM_003963.2  

    Unigene Cluster for TM4SF5:

    Transmembrane 4 L six family member 5
    Hs.184194  [show with all ESTs]
    Unigene Representative Sequence: W84524
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000576530 ENST00000270560(uc002fyw.1)
    miRNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TM4SF5
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TM4SF5
      QuantiTect SYBR Green Assays in human, mouse, rat TM4SF5
      QuantiFast Probe-based Assays in human, mouse, rat TM4SF5

    Additional mRNA sequence: 

    AF027204.1 BC069519.1 BC093688.1 BC117163.1 CR456925.1 CR541798.1 

    2 DOTS entries:

    DT.102821322  DT.86852291 

    Selected AceView cDNA sequences (see all 47):

    NM_003963 AA844492 AX772822 CD617745 CD617741 W84512 CD617742 BV179260 
    CD617746 CR541798 CR456925 BC069519 AI242043 BF435758 CD617743 AF027204 
    T25072 BG186169 W84524 AI245850 H49257 AW665746 AA631650 AI284409 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TM4SF5 expression in normal human tissues (normalized intensities)      TM4SF5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCGGCTTCA
    TM4SF5 Expression
    About this image


    TM4SF5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Heart (Cardiovascular System)
             Atrioventricular Canal Cells Atrioventricular Canal
     
     Adipose (Muscoskeletal System)
             Visceral White Adipocytes Visceral White Adipose
    TM4SF5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TM4SF5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.184194

    UniProtKB/Swiss-Prot: T4S5_HUMAN, O14894
    Tissue specificity: Intestine. Overexpressed in pancreatic cancers

        Custom PCR Arrays for TM4SF5
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    QuantiFast Probe-based Assays in human, mouse, rat TM4SF5
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TM4SF5

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for TM4SF5 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tm4sf51 , 5 transmembrane 4 superfamily member 51, 5 84.01(n)1
    82.65(a)1
      11 (42.99 cM)5
    756041  NM_029360.31  NP_083636.21 
     705052445 
    chicken
    (Gallus gallus)
    Aves --
    Gallus gallus transmembrane 4 L six family member ...
    39(a)
    many ↔ many
    1(184987047-185004412)
    lizard
    (Anolis carolinensis)
    Reptilia TM4SF56
    transmembrane 4 L six family member 5
    54(a)
    1 ↔ 1
    AAWZ02039070(33-7897)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004906201 transmembrane 4 L6 family member 5-like 66.84(n)
    62.56(a)
      100490620  XM_004918956.1  XP_004919013.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tm4sf51 transmembrane 4 L six family member 5 58.38(n)
    56.99(a)
      436645  NM_001002372.1  NP_001002372.1 


    ENSEMBL Gene Tree for TM4SF5 (if available)
    TreeFam Gene Tree for TM4SF5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TM4SF5 gene
    ENSG000002733312  TM4SF42  TM4SF192  TM4SF182  TM4SF12  
    4 SIMAP similar genes for TM4SF5 using alignment to 2 protein entries:     T4S5_HUMAN (see all proteins):
    TM4SF1    TM4SF4    TM4SF18    TM4SF19

    TM4SF5 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TM4SF5 (see all 392)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs178241491,2
    C,F,H--4659610(+) TCAAGA/GGGTAA 1 -- us2k19Minor allele frequency- G:0.11NA NS CSA WA EA 728
    rs1177690891,2
    F--4673321(+) CCACTG/AGCTGG 1 -- us2k11Minor allele frequency- A:0.01NA 120
    rs72200351,2
    C,F,A,H--4673433(+) TAGGGC/TTCATT 1 -- us2k110Minor allele frequency- T:0.48NA WA CSA EA 373
    rs1430937431,2
    --4673464(+) CTGTTG/TGCTTC 1 -- us2k10--------
    rs1836388631,2
    --4673529(+) GCCTGA/GGTGAC 1 -- us2k10--------
    rs1124384631,2
    C--4673552(+) ATCTCA/-AAAAA 1 -- us2k11Minor allele frequency- -:0.00CSA 2
    rs1474900811,2
    C--4673566(+) AACAAC/GAAAAA 1 -- us2k10--------
    rs98907971,2
    C,F--4673609(+) AGTCCC/TAGCTA 1 -- us2k15Minor allele frequency- T:0.40NA 10
    rs1121584011,2
    C,F--4673622(+) CGGGAA/GGCTGA 1 -- us2k11Minor allele frequency- G:0.00CSA 1
    rs1820723061,2
    --4673694(+) CCAGCC/TTGGGC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for TM4SF5 (4675179 - 4686506 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for TM4SF5:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv907618CNV Loss21882294
    nsv833346CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TM4SF5
    DNA2.0 Custom Variant and Variant Library Synthesis for TM4SF5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604657    OMIM disorders: --

    3 diseases for TM4SF5:    About MalaCards
    pancreatic cancer    atherosclerosis    pancreatitis


    TM4SF5 for disorders           About GeneDecksing

    Genetic Association Database (GAD): TM4SF5

    Export disorders for TM4SF5 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TM4SF5 gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with TM4SF5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a new tumour-associated antigen TM4SF5 and its expression in human cancer. (PubMed id 9479038)1, 2, 3, 9 Mueller-Pillasch F.... Gress T.M. (Gene 1998)
    2. Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. (PubMed id 22359512)1, 4 Demirkan A....Schmitz G. (PLoS Genet. 2012)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Tetraspanin TM4SF5 mediates loss of contact inhibition through epithelial-mesenchymal transition in human hepatocarcinoma. (PubMed id 18357344)1, 9 Lee S.A....Lee J.W. (J. Clin. Invest. 2008)
    5. A high level of TM4SF5 is associated with human esophageal cancer progression and poor patient survival. (PubMed id 23633159)1 Wu Y.B....Xu J.J. (Dig. Dis. Sci. 2013)
    6. Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. (PubMed id 22916037)1 Inouye M....de Bakker P.I. (PLoS Genet. 2012)
    7. Tetraspan TM4SF5-dependent direct activation of FAK and metastatic potential of hepatocarcinoma cells. (PubMed id 23077174)1 Jung O....Lee J.W. (J. Cell. Sci. 2012)
    8. Cross-talk between TGFI^1 and EGFR signalling pathways induces TM4SF5 expression and epithelial-mesenchymal transition. (PubMed id 22292774)1 Kang M....Lee J.W. (Biochem. J. 2012)
    9. JNK signaling activity regulates cell-cell adhesions via TM4SF5-mediated p27(Kip1) phosphorylation. (PubMed id 22014979)1 Kim H....Lee J.W. (Cancer Lett. 2012)
    10. Gefitinib resistance of cancer cells correlated with TM4SF5-mediated epithelial-mesenchymal transition. (PubMed id 22178131)1 Lee M.S....Lee J.W. (Biochim. Biophys. Acta 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9032 HGNC: 11857 AceView: TM4SF5 Ensembl:ENSG00000142484 euGenes: HUgn9032
    ECgene: TM4SF5 H-InvDB: TM4SF5

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TM4SF5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TM4SF5 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TM4SF5 gene:
    Search GeneIP for patents involving TM4SF5

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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for TM4SF5  
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     Block miRNA regulation of human, mouse, rat TM4SF5 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing TM4SF5
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