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TMEM219 Gene

protein-coding   GIFtS: 39
GCID: GC16P029973

Transmembrane Protein 219

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disease database 

Aliases
for TMEM219 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section
Aliases
Transmembrane Protein 2191 2 3
IGFBP-3R2 3
Insulin-Like Growth Factor Binding Protein-3 Receptor2
Insulin-Like Growth Factor-Binding Protein 3 Receptor2

External Ids:    HGNC: 252011   Entrez Gene: 1244462   Ensembl: ENSG000001499327   UniProtKB: Q86XT93   

Export aliases for TMEM219 gene to outside databases

Previous GC identifers: GC16P029880 GC16P027634


Summaries
for TMEM219 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
GeneCards Summary for TMEM219 Gene:
TMEM219 (transmembrane protein 219) is a protein-coding gene.

UniProtKB/Swiss-Prot: TM219_HUMAN, Q86XT9
Function: Cell death receptor specific for IGFBP3, may mediate caspase-8-dependent apoptosis upon ligand binding




Genomic Views
for TMEM219 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)
About This Section
RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NT_187260.1  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TMEM219 gene promoter:
         p53   GCNF   LUN-1   Cdc5   AREB6   CHOP-10   Pax-3   GCNF-1   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TMEM219 promoter sequence
   Search Chromatin IP Primers for TMEM219

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM219


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

Entrez Gene cytogenetic band: 16p11.2   Ensembl cytogenetic band:  16p11.2   HGNC cytogenetic band: 16p11.2

TMEM219 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM219 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P029973:  view genomic region     (about GC identifiers)

Start:
 29,952,206 bp from pter      End:
 29,984,373 bp from pter
Size:
 32,168 bases      Orientation:
 plus strand

Proteins
for TMEM219 gene

(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, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section
UniProtKB/Swiss-Prot: TM219_HUMAN, Q86XT9 (See protein sequence)
Recommended Name: Insulin-like growth factor-binding protein 3 receptor precursor  
Size: 240 amino acids; 25724 Da
Subunit: Interacts with IGFBP3. Interacts with CASP8
Secondary accessions: D5FK14 Q8WVV8

Explore the universe of human proteins at neXtProt for TMEM219: NX_Q86XT9

Explore proteomics data for TMEM219 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn73, Asn101, Asn167

    • See TMEM219 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001077082.1  NP_919256.1  

    ENSEMBL proteins: 
     ENSP00000388485   ENSP00000473678   ENSP00000459732   ENSP00000456960   ENSP00000457492  
     ENSP00000459813   ENSP00000461124   ENSP00000454443   ENSP00000279396  

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    Cloud-Clone Corp. Proteins for TMEM219

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    Domains /
    Families
    for TMEM219 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
    About This Section

    ProtoNet protein and cluster: Q86XT9


    Function
    for TMEM219 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TM219_HUMAN, Q86XT9
    Function: Cell death receptor specific for IGFBP3, may mediate caspase-8-dependent apoptosis upon ligand binding

    Animal Models:

       genOway: Develop your customized and physiologically relevant rodent model for TMEM219

    miRNA
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    hsa-miR-4324 hsa-miR-3622b-3p hsa-miR-4251 hsa-miR-4267
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    In Situ Assay
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    Localization
    for TMEM219 gene

    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
    About This Section
    Subcellular locations from UniProtKB/Swiss-Prot
    TM219_HUMAN, Q86XT9: Cell membrane; Single-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular3

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with TMEM219           About GenesLikeMe


    Pathways & Interactions
    for TMEM219 gene

    (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 GenesLikeMe, 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, Sets of similar genes according to GenesLikeMe)
    About This Section






        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TMEM219
    Interactions:

        Search GeneGlobe Interaction Network for TMEM219

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process IEA--

    Find genes that share ontologies with TMEM219           About GenesLikeMe



    Drugs & Compounds
    for TMEM219 gene

    (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, Sets of similar genes according to GenesLikeMe)
    About This Section
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TMEM219 (TM219)



    Transcripts
    for TMEM219 gene

    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section
    REFSEQ mRNAs for TMEM219 gene (3 alternative transcripts): 
    NM_001083613.1  NM_194280.3  XM_005255123.1  

    Unigene Cluster for TMEM219:

    Transmembrane protein 219
    Hs.460574  [show with all ESTs]
    Unigene Representative Sequence: BM541945
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000414689(uc002duw.2) ENST00000602948 ENST00000575829 ENST00000561899
    ENST00000566848 ENST00000570255(uc010bzl.1) ENST00000569445 ENST00000569481
    ENST00000279396(uc002duy.2 uc010bzk.1)
    miRNA
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    hsa-miR-4324 hsa-miR-3622b-3p hsa-miR-4251 hsa-miR-4267
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Primer
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    Additional mRNA sequence: 

    BC031217.2 BC050051.1 FJ748884.1 

    16 DOTS entries:

    DT.448849  DT.95163339  DT.75112166  DT.100819092  DT.100800420  DT.100819086  DT.120697850  DT.100819085 
    DT.120697841  DT.97768317  DT.100845157  DT.75127304  DT.100819089  DT.120695397  DT.120697545  DT.120695998 

    Selected AceView cDNA sequences (see all 284):

    AI028476 BU159488 AI868651 CA438340 BQ961895 CR617113 BQ643563 CR623332 
    CD368564 AA742390 AA625709 AW265759 AL037830 BE350039 BM979882 AA302641 
    BQ084487 AI215882 AI142943 AI085888 AA421010 AA861454 BC017488 AA916824 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for TMEM219    About this scheme

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


    ECgene alternative splicing isoforms for TMEM219

    Expression
    for TMEM219 gene

    (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 GenesLikeMe, 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)
    About This Section

    TMEM219 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGGCCTTGT
    TMEM219 Expression
    About this image


    TMEM219 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 17) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Colon (Gastrointestinal Tract)
     
     Uterus (Reproductive System)
     
     Thyroid (Endocrine System)
     
     Testis (Reproductive System)
    TMEM219 Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    TMEM219 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.460574

    UniProtKB/Swiss-Prot: TM219_HUMAN, Q86XT9
    Tissue specificity: Widely expressed in normal tissues but suppressed in prostate and breast tumor

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    In Situ
    Assay Products:     
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    Orthologs
    for TMEM219 gene

    (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)
    About This Section
    This gene was present in the common ancestor of human and mouse.

    Orthologs for TMEM219 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Tmem2191 , 5 transmembrane protein 2191, 5 84.86(n)1
    83.75(a)1    		   7 (69.25 cM)5
    687421  NM_026827.11  NP_081103.11 
     1268861715 


    ENSEMBL Gene Tree for TMEM219 (if available)
    TreeFam Gene Tree for TMEM219 (if available)

    Paralogs
    for TMEM219 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
    About This Section

    Paralogs for TMEM219 gene
    1 SIMAP similar gene for TMEM219 using alignment to 6 protein entries:     TM219_HUMAN (see all proteins):
    TMEM248

    Find genes that share paralogs with TMEM219           About GenesLikeMe



    Genomic Variants
    for TMEM219 gene

    (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)
    About This Section


    Selected SNPs for TMEM219 (see all 229)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 16 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1896112511,2
    		--29971523(+) TTGCCC/TAGGCT 2 -- us2k10--------
    rs1926462001,2
    		--29971533(+) TGGAGG/TGAAGT 2 -- us2k10--------
    rs1473038771,2
    		--29971731(+) CGCCTC/TGGCCT 2 -- us2k10--------
    rs1849865991,2
    		--29971769(+) GCCACC/TGTGCC 2 -- us2k10--------
    rs1176730091,2
    		C,F--29971781(+) AGCCTG/ATTGTG 2 -- us2k11Minor allele frequency- A:0.03NA 120
    rs1170774161,2
    		C,F--29971913(+) GAGGCG/AAGAGG 2 -- us2k11Minor allele frequency- A:0.07NA 120
    rs1398424781,2
    		--29972250(+) GACCAC/TGAAGT 2 -- us2k10--------
    rs1494855011,2
    		--29972361(+) ACTCGG/TAAGGC 2 -- us2k10--------
    rs1896669841,2
    		--29972370(+) GCTGAA/GGCAGA 2 -- us2k10--------
    rs1439483791,2
    		--29972399(+) GAGGCA/GGAGGT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for TMEM219 (29952206 - 29984373 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for TMEM219:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv2668n71CNV Loss21882294
    nsv905717CNV Loss21882294
    esv29470CNV Loss19812545

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    Disorders / Diseases
    for TMEM219 gene

    (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, Sets of similar genes according to GenesLikeMe)
    About This Section

    		   --

    Publications
    for TMEM219 gene

    (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)
    About This Section


    PubMed articles for TMEM219 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with TMEM219)

    1. Identification of a novel cell death receptor mediating IGFBP-3- induced anti-tumor effects in breast and prostate cancer. (PubMed id 20353938)1, 2 Ingermann A.R.... Oh Y. (J. Biol. Chem. 2010)
    2. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. 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)

    External Searches for TMEM219 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing TMEM219 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 124446 HGNC: 25201 AceView: LOC124446 Ensembl:ENSG00000149932 euGenes: HUgn124446
    ECgene: TMEM219 H-InvDB: TMEM219

    Other Databases showing TMEM219 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TMEM219 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TMEM219 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for TMEM219 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for TMEM219 gene:
    Search GeneIP for patents involving TMEM219

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



    Products
    for TMEM219 gene

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    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section


     
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     Block miRNA regulation of human, mouse, rat TMEM219 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing TMEM219
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     Custom PCR Arrays for TMEM219 Search Chromatin IP Primers for TMEM219
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