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TUSC5 Gene

protein-coding   GIFtS: 45
GCID: GC17P001182

Tumor Suppressor Candidate 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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Aliases
Tumor Suppressor Candidate 51 2     Interferon-Induced Transmembrane Domain-Containing Protein D32 3
LOST12 3 5     Protein Located At Seventeen-P-Thirteen Point Three 12 3
Interferon Induced Transmembrane Protein Domain Containing 31 2     DSPB12 3
Located At Seventeen P Thirteen Point Three 11 2     IFITMD32 3
Dispanin Subfamily B Member 12 3     

External Ids:    HGNC: 295921   Entrez Gene: 2867532   Ensembl: ENSG000001848117   OMIM: 6122115   UniProtKB: Q8IXB33   

Export aliases for TUSC5 gene to outside databases

Previous GC identifers: GC17P001390 GC17P001129


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TUSC5 Gene:
TUSC5 (tumor suppressor candidate 5) is a protein-coding gene. Diseases associated with TUSC5 include irregular astigmatism, and root caries. An important paralog of this gene is PRRT2.

UniProtKB/Swiss-Prot: TUSC5_HUMAN, Q8IXB3
Function: May be involved in fat metabolism (By similarity)




(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  NT_187613.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the TUSC5 gene promoter:
         Max1   CUTL1   GATA-1   C/EBPalpha   PPAR-alpha   PPAR-gamma1   PPAR-gamma2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTUSC5 promoter sequence
   Search Chromatin IP Primers for TUSC5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TUSC5


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

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

TUSC5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TUSC5 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P001182:  view genomic region     (about GC identifiers)

Start:
1,182,957 bp from pter      End:
1,204,281 bp from pter
Size:
21,325 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TUSC5_HUMAN, Q8IXB3 (See protein sequence)
Recommended Name: Tumor suppressor candidate 5  
Size: 177 amino acids; 19254 Da
Developmental stage: Expressed in fetal brain
Secondary accessions: A6NMK4

Explore the universe of human proteins at neXtProt for TUSC5: NX_Q8IXB3

Explore proteomics data for TUSC5 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TUSC5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_758955.2  
    ENSEMBL proteins: 
     ENSP00000329548  

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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:
     IPR007593 CD225/Dispanin_fam

    Graphical View of Domain Structure for InterPro Entry Q8IXB3

    ProtoNet protein and cluster: Q8IXB3

    1 Blocks protein domain: IPB007593 Interferon-induced transmembrane protein

    UniProtKB/Swiss-Prot: TUSC5_HUMAN, Q8IXB3
    Similarity: Belongs to the CD225/Dispanin family


    TUSC5 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:

         UniProtKB/Swiss-Prot Summary: TUSC5_HUMAN, Q8IXB3
    Function: May be involved in fat metabolism (By similarity)

    Animal Models:

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    Block miRNA regulation of human, mouse, rat TUSC5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TUSC5 (see all 31):
    hsa-miR-124* hsa-miR-185* hsa-miR-181c hsa-miR-2110 hsa-miR-450b-3p hsa-miR-520a-5p hsa-miR-3921 hsa-miR-449a
    SwitchGear 3'UTR luciferase reporter plasmidTUSC5 3' UTR sequence
    Inhib. RNA
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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
    TUSC5_HUMAN, Q8IXB3: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    lysosome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    TUSC5 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 TUSC5
    Interactions:

        Search GeneGlobe Interaction Network for TUSC5

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009607response to biotic stimulus IEA--

    TUSC5 for ontologies           About GeneDecksing



    (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 TUSC5



    (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,
    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 TUSC5 gene: 
    NM_172367.2  

    Unigene Cluster for TUSC5:

    Tumor suppressor candidate 5
    Hs.146059  [show with all ESTs]
    Unigene Representative Sequence: BC142615
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000333813(uc002fsi.1)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate TUSC5 (see all 31):
    hsa-miR-124* hsa-miR-185* hsa-miR-181c hsa-miR-2110 hsa-miR-450b-3p hsa-miR-520a-5p hsa-miR-3921 hsa-miR-449a
    SwitchGear 3'UTR luciferase reporter plasmidTUSC5 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat TUSC5

    Additional mRNA sequence: 

    AB090231.1 AL831929.1 BC142615.1 

    2 DOTS entries:

    DT.100021165  DT.100021164 

    18 AceView cDNA sequences:

    CA428186 CB267042 BQ889856 NM_172367 BQ694557 CA428218 CB267446 BX103058 
    AB090231 AW137636 CA427116 F36546 F31112 AL831929 AI217120 F33988 
    R48900 R71820 

    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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    TUSC5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TUSC5 Expression
    About this image

    TUSC5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TUSC5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.146059

    UniProtKB/Swiss-Prot: TUSC5_HUMAN, Q8IXB3
    Tissue specificity: Expressed at high levels in heart, mammary gland, adrenal gland, stomach, smooth muscle and
    skeletal muscle, and at lower levels in brain and lung. Strongly down-regulated in lung cancer tissues, due to
    hypermethylation of the corresponding locus

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TUSC5

    (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 TUSC5 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tusc51 , 5 tumor suppressor candidate 51, 5 81.31(n)1
    76.3(a)1
      11 (45.98 cM)5
    2378581  NM_177709.31  NP_808377.11 
     766798085 
    chicken
    (Gallus gallus)
    Aves TUSC56
    tumor suppressor candidate 5
    54(a)
    1 ↔ 1
    19(6301732-6305942)
    African clawed frog
    (Xenopus laevis)
    Amphibia BX848340.12   -- 73.16(n)    BX848340.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1018860181 tumor suppressor candidate 5 homolog 53.83(n)
    40.74(a)
      101886018  XM_005157620.1  XP_005157677.1 


    ENSEMBL Gene Tree for TUSC5 (if available)
    TreeFam Gene Tree for TUSC5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TUSC5 gene
    PRRT22  TMEM2332  
    1 SIMAP similar gene for TUSC5 using alignment to 2 protein entries:     TUSC5_HUMAN (see all proteins):
    TMEM233

    TUSC5 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 TUSC5 (see all 867)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2019861731,2
    --1181007(+) ACAAT-/TCTCTCT 1 -- us2k10--------
    rs98911431,2
    C,F,A--1181027(+) CTTTTT/ATTTTT 1 -- us2k1 tfbs37Minor allele frequency- A:0.16NA CSA WA EA 365
    rs1457734631,2
    --1181070(+) GAGTGC/TAGTGG 1 -- us2k10--------
    rs1387016131,2
    --1181072(+) GTGTAA/GTGGCA 1 -- us2k10--------
    rs129384561,2
    C,F--1181077(+) GTGGCG/ATGATC 1 -- us2k18Minor allele frequency- A:0.21NA WA CSA 14
    rs1486030341,2
    --1181097(+) TGCAAC/TCTCTG 1 -- us2k10--------
    rs577625631,2
    C,F--1181164(+) GCATGC/TGCCAC 1 -- us2k12Minor allele frequency- T:0.50NA WA 4
    rs1116670791,2
    C,F--1181173(+) ACCACG/ACCCAG 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1117138061,2
    C--1181180(+) CCAGCC/TAATTT 1 -- us2k11Minor allele frequency- T:0.00NA 2
    rs285082041,2
    C,F--1181223(+) ATTGGC/TCAGGA 1 -- us2k14Minor allele frequency- T:0.43NA WA CSA 7

    HapMap Linkage Disequilibrium report for TUSC5 (1182957 - 1204281 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for TUSC5:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2715444CNV Deletion23290073
    esv1777284CNV Deletion17803354
    esv2715443CNV Deletion23290073
    esv2715442CNV Deletion23290073
    esv2715445CNV Deletion23290073
    nsv509645CNV Insertion20534489
    nsv907493CNV Loss21882294
    nsv907497CNV Loss21882294
    esv6254CNV Gain19470904

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612211    OMIM disorders: --

    9 diseases for TUSC5:    
    About MalaCards
    irregular astigmatism    root caries    astigmatism    hyperopia
    lissencephaly    myopia    lung cancer    endotheliitis
    neuronitis

    1 disease from the University of Copenhagen DISEASES database for TUSC5:
    Lissencephaly

    TUSC5 for disorders           About GeneDecksing


    Export disorders for TUSC5 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 TUSC5 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with TUSC5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Detailed characterization of a homozygously deleted region corresponding to a candidate tumor suppressor locus at distal 17p13.3 in human lung cancer. (PubMed id 12660825)1, 2, 3 Konishi H.... Takahashi T. (Oncogene 2003)
    2. The dispanins: a novel gene family of ancient origin that contains 14 human members. (PubMed id 22363774)1, 2 Sallman Almen M.... Schioth H.B. (PLoS ONE 2012)
    3. Hypermethylation of TUSC5 genes in breast cancer tissue. (PubMed id 23302999)1 Bubnov V....Zaporozhan V. (Exp. Oncol. 2012)
    4. Characterization of Tusc5, an adipocyte gene co-expressed in peripheral neurons. (PubMed id 17689857)1 Oort P.J....Adams S.H. (Mol. Cell. Endocrinol. 2007)
    5. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (Nature 2006)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    7. Molecular cloning and characterization of rat brain endothelial cell derived gene-1 (tumor suppressor candidate 5) expressing abundantly in adipose tissues. (PubMed id 17007998)9 Shibata T....Tatsuno I. (Mol. Cell. Endocrinol. 2007)

    (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: 286753 HGNC: 29592 AceView: TUSC5 Ensembl:ENSG00000184811 euGenes: HUgn286753
    ECgene: TUSC5 H-InvDB: TUSC5

    (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 TUSC5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TUSC5 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 TUSC5 gene:
    Search GeneIP for patents involving TUSC5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (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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