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TMEM19 Gene

protein-coding   GIFtS: 45
GCID: GC12P072079

Transmembrane Protein 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 Protein 191 2
AGMO5
TMEM1955

External Ids:    HGNC: 256051   Entrez Gene: 552662   Ensembl: ENSG000001392917   OMIM: 6137385   UniProtKB: Q96HH63   

Export aliases for TMEM19 gene to outside databases

Previous GC identifers: GC12P070367 GC12P070368 GC12P069128


(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 TMEM19 Gene:
TMEM19 (transmembrane protein 19) is a protein-coding gene. Diseases associated with TMEM19 include malaria.


(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_000012.12  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the TMEM19 gene promoter:
         Nkx3-1   SRF   TBP   Nkx3-1 v4   AML1a   SRF (504 AA)   Nkx3-1 v1   Nkx3-1 v2   TFIID   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMEM19 promoter sequence
   Search Chromatin IP Primers for TMEM19

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM19


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

Entrez Gene cytogenetic band: 12q21.1   Ensembl cytogenetic band:  12q21.1   HGNC cytogenetic band: 12q15

TMEM19 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM19 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P072079:  view genomic region     (about GC identifiers)

Start:
72,079,867 bp from pter      End:
72,097,840 bp from pter
Size:
17,974 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: TMM19_HUMAN, Q96HH6 (See protein sequence)
Recommended Name: Transmembrane protein 19  
Size: 336 amino acids; 36392 Da
Secondary accessions: B2RDL2 Q53FY3 Q9NV41
Alternative splicing: 2 isoforms:  Q96HH6-1   Q96HH6-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TMEM19: NX_Q96HH6

Explore proteomics data for TMEM19 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TMEM19 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060749.2  
    ENSEMBL proteins: 
     ENSP00000266673   ENSP00000448587   ENSP00000449955   ENSP00000448528   ENSP00000450089  
     ENSP00000448069  

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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:
     IPR002794 DUF92_TMEM19

    Graphical View of Domain Structure for InterPro Entry Q96HH6

    ProtoNet protein and cluster: Q96HH6

    UniProtKB/Swiss-Prot: TMM19_HUMAN, Q96HH6
    Similarity: Belongs to the TMEM19 family


    TMEM19 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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    Phenotypes:
         1 GenomeRNAi human phenotype for TMEM19:
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TMEM19
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    miRNA
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    miRTarBase miRNAs that target TMEM19:
    hsa-mir-27b-3p (MIRT046235), hsa-mir-877-3p (MIRT036879), hsa-mir-17-5p (MIRT050994)

    Block miRNA regulation of human, mouse, rat TMEM19 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TMEM19 (see all 19):
    hsa-miR-4291 hsa-miR-607 hsa-miR-125a-5p hsa-miR-3673 hsa-miR-3916 hsa-miR-3125 hsa-miR-1323 hsa-miR-125b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Predesigned siRNA for gene silencing in human, mouse, rat TMEM19

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    Sino Biological Human cDNA Clone for TMEM19
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM19

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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
    TMM19_HUMAN, Q96HH6: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    endoplasmic reticulum1

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

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

    TMEM19 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 TMEM19
    Interactions:

        Search GeneGlobe Interaction Network for TMEM19

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for TMEM19 (Q96HH62, 3 ENSP000002666734) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BSCL2Q96G972, 3, ENSP000003540324MINT-66202 I2D: score=5 STRING: ENSP00000354032
    CREB3O438893I2D: score=1 
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    (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 TMEM19 (TMM19)



    (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 TMEM19 gene: 
    NM_018279.3  

    Unigene Cluster for TMEM19:

    Transmembrane protein 19
    Hs.644802  [show with all ESTs]
    Unigene Representative Sequence: NM_018279
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000266673(uc001sws.3) ENST00000550524 ENST00000549735(uc001swr.1)
    ENST00000546677 ENST00000546795 ENST00000550787
    miRNA
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    Block miRNA regulation of human, mouse, rat TMEM19 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TMEM19 (see all 19):
    hsa-miR-4291 hsa-miR-607 hsa-miR-125a-5p hsa-miR-3673 hsa-miR-3916 hsa-miR-3125 hsa-miR-1323 hsa-miR-125b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TMEM19
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    GenScript: all cDNA clones in your preferred vector (see all 2): TMEM19 (NM_001130963)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMEM19
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM19
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for TMEM19
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TMEM19
      QuantiTect SYBR Green Assays in human, mouse, rat TMEM19
      QuantiFast Probe-based Assays in human, mouse, rat TMEM19

    Additional mRNA sequence: 

    AK001798.1 AK025839.1 AK223148.1 AK315587.1 BC008596.1 

    5 DOTS entries:

    DT.212640  DT.100679968  DT.95135930  DT.95370985  DT.101958950 

    Selected AceView cDNA sequences (see all 222):

    AI740682 AW139404 AI984362 AI702876 BP371303 BU742878 CD364330 AI208780 
    BQ774477 AI141368 BG677995 BU634091 AI015547 BU689370 BM663344 BU632826 
    BG742519 AA970093 CD742573 BX327014 AI000189 AI540554 BU742594 Z39825 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for TMEM19    About this scheme

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


    ECgene alternative splicing isoforms for TMEM19

    (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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    TMEM19 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAAGAGCTC
    TMEM19 Expression
    About this image

    TMEM19 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TMEM19 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.644802
        Custom PCR Arrays for TMEM19
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM19

    (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 eukaryotes.

    Orthologs for TMEM19 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmem191 , 5 transmembrane protein 191, 5 83.98(n)1
    87.46(a)1
      10 (63.51 cM)5
    672261  NM_133683.31  NP_598444.11 
     1153407395 
    chicken
    (Gallus gallus)
    Aves TMEM191 transmembrane protein 19 72.24(n)
    74.93(a)
      417856  XM_004937572.1  XP_004937629.1 
    lizard
    (Anolis carolinensis)
    Reptilia TMEM196
    transmembrane protein 19
    65(a)
    1 ↔ 1
    5(38447118-38474712)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.110462 Transcribed sequence with moderate similarity to protein more 77.27(n)    AL889852.2 
    zebrafish
    (Danio rerio)
    Actinopterygii tmem191 transmembrane protein 19 64.69(n)
    66.36(a)
      415188  NM_001002098.1  NP_001002098.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG101711 CG10171 51.22(n)
    47.3(a)
      39501  NM_140382.3  NP_648639.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G199301 AT5G19930 48.74(n)
    41.52(a)
      832115  NM_122000.3  NP_568386.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g05073001 Os01g0507300 44.32(n)
    36.7(a)
      4324045  NM_001049686.1  NP_001043151.1 


    ENSEMBL Gene Tree for TMEM19 (if available)
    TreeFam Gene Tree for TMEM19 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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 TMEM19 (see all 464)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1504249831,2
    C--72077878(+) GAGCAC/TAGGGG 1 -- us2k10--------
    rs1870368871,2
    --72077911(+) TTTCTA/GGGGTT 1 -- us2k10--------
    rs1382338701,2
    --72077921(+) TTAAAC/TACCCT 1 -- us2k10--------
    rs733462501,2
    C,F--72077964(+) CCTTAT/CGTAAA 1 -- us2k13Minor allele frequency- C:0.21WA 122
    rs1910533931,2
    --72078096(+) CCAAGC/TAGAGA 1 -- us2k10--------
    rs1172397031,2
    C,F--72078116(+) TTTTCT/CATCTG 1 -- us2k11Minor allele frequency- C:0.04NA 120
    rs1180652721,2
    F--72078214(+) ATTTAG/ACTCTA 1 -- us2k11Minor allele frequency- A:0.04NA 120
    rs1820432291,2
    --72078221(+) TCTAGC/G/TAAGTC 1 -- us2k10--------
    rs2004476131,2
    C--72078675(+) AAAAAA/GAAAAA 1 -- us2k10--------
    rs1856412131,2
    --72079033(+) TTTGAA/CATTTA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for TMEM19 (72079867 - 72097840 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for TMEM19:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv524634CNV Loss19592680
    nsv832451CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TMEM19
    DNA2.0 Custom Variant and Variant Library Synthesis for TMEM19

    (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: 613738    OMIM disorders: --

    1 disease for TMEM19:    
    About MalaCards
    malaria


    TMEM19 for disorders           About GeneDecksing


    Export disorders for TMEM19 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 TMEM19 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with TMEM19)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. 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)
    4. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)
    5. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (Nature 2005)
    6. 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)

    (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: 55266 HGNC: 25605 AceView: TMEM19andDKFZP564I0422 Ensembl:ENSG00000139291 euGenes: HUgn55266
    ECgene: TMEM19 H-InvDB: TMEM19

    (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 TMEM19 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 TMEM19 gene:
    Search GeneIP for patents involving TMEM19

    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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