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TM4SF19 Gene

protein-coding   GIFtS: 40
GCID: GC03M196049

Transmembrane 4 L Six Family Member 19

  See related disease
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
Transmembrane 4 L Six Family Member 191 2
Osteoclast Maturation-Associated Gene 4 Protein2 3
Tetraspan Membrane Protein OCTM42 3
Transmembrane 4 L6 Family Member 192
OCTM43

External Ids:    HGNC: 251671   Entrez Gene: 1162112   Ensembl: ENSG000001451077   UniProtKB: Q96DZ73   

Export aliases for TM4SF19 gene to outside databases

Previous GC identifers: GC03M197508 GC03M197531 GC03M196042 GC03M193348


(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 TM4SF19 Gene:
TM4SF19 (transmembrane 4 L six family member 19) is a protein-coding gene. Diseases associated with TM4SF19 include endotheliitis. An important paralog of this gene is ENSG00000273331.


(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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Regulatory elements:
   Regulatory transcription factor binding sites in the TM4SF19 gene promoter:
         C/EBPbeta   Pbx1a   HSF1 (long)   MyoD   C/EBPalpha   RORalpha1   CHOP-10   POU2F1   POU2F1a   HSF1short   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTM4SF19 promoter sequence
   Search Chromatin IP Primers for TM4SF19

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TM4SF19


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

Entrez Gene cytogenetic band: 3q29   Ensembl cytogenetic band:  3q29   HGNC cytogenetic band: 3q29

TM4SF19 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TM4SF19 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M196049:  view genomic region     (about GC identifiers)

Start:
196,046,213 bp from pter      End:
196,065,374 bp from pter
Size:
19,162 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for TM4SF19

(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: T4S19_HUMAN, Q96DZ7 (See protein sequence)
Recommended Name: Transmembrane 4 L6 family member 19  
Size: 209 amino acids; 22433 Da
Secondary accessions: B2RV20 E9PH22 Q336K7
Alternative splicing: 2 isoforms:  Q96DZ7-1   Q96DZ7-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TM4SF19: NX_Q96DZ7

Post-translational modifications: 

  • Glycosylation2 at Asn133
  • Modification sites at PhosphoSitePlus
  • REFSEQ proteins (3 alternative transcripts): 
    NP_001191826.1  NP_001191827.1  NP_612470.2  

    ENSEMBL proteins: 
     ENSP00000395280   ENSP00000414864   ENSP00000387728   ENSP00000273695  

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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 Q96DZ7

    ProtoNet protein and cluster: Q96DZ7

    1 Blocks protein domain: IPB008661 L6 membrane

    UniProtKB/Swiss-Prot: T4S19_HUMAN, Q96DZ7
    Similarity: Belongs to the L6 tetraspanin family


    TM4SF19 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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    Animal Models:
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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
    T4S19_HUMAN, Q96DZ7: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    extracellular1

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

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

    TM4SF19 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 TM4SF19
    Interactions:

        Search GeneGlobe Interaction Network for TM4SF19

    (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 TM4SF19 (T4S19)



    (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 TM4SF19 gene (3 alternative transcripts): 
    NM_001204897.1  NM_001204898.1  NM_138461.3  

    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000446879(uc010iad.2) ENST00000440822 ENST00000454715(uc011btv.2)
    ENST00000273695(uc003fwl.2 uc021xjs.1)
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat TM4SF19
      QuantiFast Probe-based Assays in human, mouse, rat TM4SF19

    Selected AceView cDNA sequences (see all 76):

    CA848186 BM311000 BX098544 AI633800 CA772543 CA950854 AI380016 BC015348 
    BG168937 BM311591 AW016718 BE549966 BX119411 AA642108 AA327608 BU633848 
    AI419510 BM808243 BC021177 BI837048 BE897067 AA807781 BX954504 CD368238 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TM4SF19 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11
    SP1:                                            -     -     -                                       
    SP2:                                                                    -           -               
    SP3:                                                                                                
    SP4:                                                                    -                           
    SP5:                    -                                                                           


    ECgene alternative splicing isoforms for TM4SF19

    (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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    TM4SF19 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATAGGATAA
    TM4SF19 Expression
    About this image

    TM4SF19 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --
        Custom PCR Arrays for TM4SF19
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TM4SF19

    (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 TM4SF19 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tm4sf191 , 5 transmembrane 4 L six family member 191, 5 83.93(n)1
    82.56(a)1
      16 (22.66 cM)5
    2772031  NM_001160402.11  NP_001153874.11 
     324005065 
    chicken
    (Gallus gallus)
    Aves TM4SF196
    Gallus gallus transmembrane 4 L six family member ...
    36(a)
    1 → many
    9(4249813-4251775)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    45(a)
    1 → many
    3(30679127-30683090)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1018858661 transmembrane 4 L6 family member 19-like 47.93(n)
    37.91(a)
      101885866  XM_005157389.1  XP_005157446.1 


    ENSEMBL Gene Tree for TM4SF19 (if available)
    TreeFam Gene Tree for TM4SF19 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TM4SF19 gene
    ENSG000002733312  TM4SF42  TM4SF52  TM4SF182  TM4SF12  
    Selected SIMAP similar genes for TM4SF19 using alignment to 5 protein entries:     T4S19_HUMAN (see all proteins) (see all similar genes):
    TCTEX1D2    pp12301    TBCB    RBP7    SEC14L3    TM2D1
    COQ5    TUBA1C    FP6651    OK/SW-cl.41    HC6    C3orf64
    KIAA1651    SH2B3    GALK2    X-linked retinopathy protein    FP6778    LINC00269

    TM4SF19 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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    2 SNPs for TM4SF19    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs67853391,2,4
    ----see VAR_0605462 mis40--------
    rs356437771,2,4
    ----see VAR_0572802 mis40--------

    HapMap Linkage Disequilibrium report for TM4SF19 (196046213 - 196065374 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TM4SF19 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv4542CNV Deletion18987735
    esv2726577CNV Deletion23290073
    esv2726578CNV Deletion23290073
    esv2370851CNV Deletion18987734
    esv2677485CNV Deletion23128226
    esv1444129CNV Insertion17803354
    nsv509878CNV Loss20534489
    nsv4183CNV Loss18451855
    nsv878182CNV Loss21882294
    nsv513108CNV Loss21212237

    Human Gene Mutation Database (HGMD): TM4SF19
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TM4SF19
    DNA2.0 Custom Variant and Variant Library Synthesis for TM4SF19

    (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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    1 disease for TM4SF19:    About MalaCards
    endotheliitis


    TM4SF19 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: TM4SF19 (1 document)

    Export disorders for TM4SF19 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 TM4SF19 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with TM4SF19)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    4. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (Nature 2006)
    5. (PubMed id )2 

    (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: 116211 HGNC: 25167 AceView: LOC116211 Ensembl:ENSG00000145107 euGenes: HUgn116211
    ECgene: TM4SF19 H-InvDB: TM4SF19

    (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 TM4SF19 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TM4SF19 gene:
    Search GeneIP for patents involving TM4SF19

    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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