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TMEM119 Gene

protein-coding   GIFtS: 43
GCID: GC12M108983

Transmembrane Protein 119

  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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Transmembrane Protein 1191 2
Osteoblast Induction Factor2 3
OBIF2 3

External Ids:    HGNC: 278841   Entrez Gene: 3387732   Ensembl: ENSG000001831607   UniProtKB: Q4V9L63   
ORGUL members:         

Export aliases for TMEM119 gene to outside databases

Previous GC identifers: GC12M107487 GC12M106047


(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 TMEM119 Gene:
TMEM119 (transmembrane protein 119) is a protein-coding gene. Diseases associated with TMEM119 include fibrodysplasia ossificans progressiva.

UniProtKB/Swiss-Prot: TM119_HUMAN, Q4V9L6
Function: May promote the differentiation of myoblasts into osteoblasts (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_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TMEM119 gene promoter:
         AML1a   Tal-1   Sp1   HSF1 (long)   E47   MZF-1   POU2F1   HSF1short   ZID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMEM119 promoter sequence
   Search Chromatin IP Primers for TMEM119

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM119


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

Entrez Gene cytogenetic band: 12q23.3   Ensembl cytogenetic band:  12q23.3   HGNC cytogenetic band: 12q23.3

TMEM119 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM119 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M108983:  view genomic region     (about GC identifiers)

Start:
108,983,622 bp from pter      End:
108,992,096 bp from pter
Size:
8,475 bases      Orientation:
minus 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: TM119_HUMAN, Q4V9L6 (See protein sequence)
Recommended Name: Transmembrane protein 119 precursor  
Size: 283 amino acids; 29203 Da
Secondary accessions: Q6UXE5 Q8N2F5

Explore the universe of human proteins at neXtProt for TMEM119: NX_Q4V9L6

Explore proteomics data for TMEM119 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TMEM119 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_859075.2  
    ENSEMBL proteins: 
     ENSP00000376553   ENSP00000448583   ENSP00000447120   ENSP00000447345  

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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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    ProtoNet protein and cluster: Q4V9L6


    (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: TM119_HUMAN, Q4V9L6
    Function: May promote the differentiation of myoblasts into osteoblasts (By similarity)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding ----
         
    TMEM119 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TMEM119:
     Increased S DNA content 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Tmem119):
     cellular  growth/size/body  skeleton 

    TMEM119 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Tmem119tm1Lex for TMEM119

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TMEM119
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TMEM119

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    Selected qRT-PCR Assays for microRNAs that regulate TMEM119 (see all 12):
    hsa-miR-3678-3p hsa-miR-3065-3p hsa-miR-2278 hsa-miR-339-5p hsa-miR-520a-5p hsa-miR-525-5p hsa-miR-138 hsa-miR-1255a
    SwitchGear 3'UTR luciferase reporter plasmidTMEM119 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TMEM119

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    Browse Sino Biological Human cDNA Clones
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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
    TM119_HUMAN, Q4V9L6: Membrane; Single-pass type I membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular3
    endoplasmic reticulum2
    lysosome1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005783endoplasmic reticulum IEA--
    GO:0016021integral component of membrane IEA--

    TMEM119 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 TMEM119
    Interactions:

        Search GeneGlobe Interaction Network for TMEM119

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001649osteoblast differentiation IEA--
    GO:0008150biological_process ND--

    TMEM119 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 TMEM119 (TM119)



    (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 TMEM119 gene: 
    NM_181724.2  

    Unigene Cluster for TMEM119:

    Transmembrane protein 119
    Hs.449718  [show with all ESTs]
    Unigene Representative Sequence: NM_181724
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392806(uc001tng.3) ENST00000549031 ENST00000549447 ENST00000547567

    miRNA
    Products:
         
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    Selected qRT-PCR Assays for microRNAs that regulate TMEM119 (see all 12):
    hsa-miR-3678-3p hsa-miR-3065-3p hsa-miR-2278 hsa-miR-339-5p hsa-miR-520a-5p hsa-miR-525-5p hsa-miR-138 hsa-miR-1255a
    SwitchGear 3'UTR luciferase reporter plasmidTMEM119 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for TMEM119
    Predesigned siRNA for gene silencing in human, mouse, rat TMEM119
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMEM119
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM119
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for TMEM119
    OriGene qSTAR qPCR primer pairs in human, mouse for TMEM119
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TMEM119
      QuantiTect SYBR Green Assays in human, mouse, rat TMEM119
      QuantiFast Probe-based Assays in human, mouse, rat TMEM119

    Additional mRNA sequence: 

    AK075501.1 AK097290.1 AK295288.1 AK301202.1 AY358389.1 BC096825.1 

    5 DOTS entries:

    DT.100022360  DT.100019172  DT.443769  DT.100771564  DT.100771569 

    Selected AceView cDNA sequences (see all 91):

    AI694585 CR611280 BQ881499 BQ006000 H53608 CR613428 CA405961 AI364151 
    CD518661 AI751049 AI912282 BU626386 CN479499 BM930851 CA445047 AA336229 
    AW014807 AI239942 AI433835 AI207084 AI050015 BG741858 AI949039 AW006307 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for TMEM119    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b
    SP1:                        
    SP2:        -               


    ECgene alternative splicing isoforms for TMEM119

    (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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    TMEM119 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGCCTGGCG
    TMEM119 Expression
    About this image


    TMEM119 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 16) fully expand
     
     Fibroblasts
             Detroit 551
             Human Dermal Fibroblasts-adult (HDF-a)   
     
     Dermis (Integumentary System)    fully expand to see all 5 entries
             Human Dermal Fibroblasts-adult (HDF-a)   
     
     Bone (Muscoskeletal System)    fully expand to see all 9 entries
             Mandibular Condyle
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 7 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 6 entries
             PureStem SK11, NCr-fac & Meso-prx Progenitor
    TMEM119 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TMEM119 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.449718
        Custom PCR Arrays for TMEM119
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM119

    (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 TMEM119 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmem1191 , 5 transmembrane protein 1191, 5 75.42(n)1
    71.04(a)1
      5 (55.55 cM)5
    2316331  NM_146162.21  NP_666274.11 
     1137937295 
    chicken
    (Gallus gallus)
    Aves TMEM1191 transmembrane protein 119 71.05(n)
    67.15(a)
      416892  XM_415183.4  XP_415183.1 
    lizard
    (Anolis carolinensis)
    Reptilia TMEM1196
    transmembrane protein 119
    49(a)
    1 ↔ 1
    GL343913.1(70283-71041)
    zebrafish
    (Danio rerio)
    Actinopterygii tmem119b6
    transmembrane protein 119b
    25(a)
    1 ↔ 1
    5(33509664-33513260) ENSDARG00000068036


    ENSEMBL Gene Tree for TMEM119 (if available)
    TreeFam Gene Tree for TMEM119 (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 TMEM119 (see all 277)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs751270971,2
    F--108983157(+) GGTGCG/AGGGGA 1 -- ds50011Minor allele frequency- A:0.18WA 118
    rs123147341,2
    --108983290(+) GTGAGC/GGGGGC 1 -- ds50010--------
    rs9183021,2
    C,F,H--108983365(+) TCCCAC/TGGCCA 1 -- ds500115Minor allele frequency- T:0.05NS EA NA WA CSA 792
    rs72986181,2
    C,F,H--108983466(+) TCCTCG/AGGAGC 1 -- ds500112Minor allele frequency- A:0.17NS EA NA WA 994
    rs72988811,2
    C,F,H--108983676(+) CTGGAG/AAGCTG 1 -- ut31 ese317Minor allele frequency- A:0.09NS EA NA CSA WA 1941
    rs559391191,2
    C,F--108983966(+) GAGTTC/GCATTC 1 -- ut312Minor allele frequency- G:0.21WA 120
    rs10519241,2
    C,F,H--108983977(-) TCAGGT/GTGAAT 1 -- ut31 ese331Minor allele frequency- G:0.25MN NA NS EA WA CSA 3095
    rs1817054771,2
    --108984024(+) AGGCCA/GGGGGT 1 -- ut310--------
    rs1455216661,2
    --108984027(+) CCGGGA/GGTGCT 1 -- ut310--------
    rs1488132441,2
    C--108984370(+) GAGGCA/GGGAGA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for TMEM119 (108983622 - 108992096 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for TMEM119:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509475CNV Insertion20534489
    nsv524079CNV Loss19592680
    nsv883CNV Loss18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TMEM119
    DNA2.0 Custom Variant and Variant Library Synthesis for TMEM119

    (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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    1 disease for TMEM119:    
    About MalaCards
    fibrodysplasia ossificans progressiva

    1 disease from the University of Copenhagen DISEASES database for TMEM119:
    Fibrodysplasia ossificans progressiva

    TMEM119 for disorders           About GeneDecksing


    Export disorders for TMEM119 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 TMEM119 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with TMEM119)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2, 3 Clark H.F.... Gray A.M. (Genome Res. 2003)
    2. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (DNA Res. 2005)
    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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. 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)

    (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: 338773 HGNC: 27884 AceView: LOC338773 Ensembl:ENSG00000183160 euGenes: HUgn338773
    ECgene: TMEM119 H-InvDB: TMEM119

    (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 TMEM119 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 TMEM119 gene:
    Search GeneIP for patents involving TMEM119

    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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