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TMEM191C Gene

RNA gene   GIFtS: 28
GCID: GC22P021825

Transmembrane Protein 191C

  Search for TMEM191C
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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Subcategory (RNA class): lncRNA

Quality score for this RNA gene is 3

Aliases
Transmembrane Protein 191C1 2
KB-1323B2.62

External Ids:    HGNC: 336011   Entrez Gene: 6454262   Ensembl: ENSG000002061407   UniProtKB: A6NGB03   
ORGUL members:         

Export aliases for TMEM191C gene to outside databases

Previous GC identifers: GC22P020151 GC22P021821


(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 TMEM191C Gene:
TMEM191C (transmembrane protein 191C) is an RNA gene, and is affiliated with the lncRNA class. An important paralog of this gene is TMEM191B.


(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_018933.2  NC_000022.11  NT_011520.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the TMEM191C gene promoter:
         Pax-5   Tal-1   FOXL1   E47   AREB6   MEF-2A   HEN1   POU2F1   POU2F1a   aMEF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for TMEM191C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM191C


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

Entrez Gene cytogenetic band: 22q11.21   Ensembl cytogenetic band:  22q11.21   HGNC cytogenetic band: 22q11.21

TMEM191C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM191C gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P021825:  view genomic region     (about GC identifiers)

Start:
21,820,712 bp from pter      End:
21,825,558 bp from pter
Size:
4,847 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for TMEM191C

(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: T191C_HUMAN, A6NGB0 (See protein sequence)
Recommended Name: Transmembrane protein 191C  
Size: 121 amino acids; 13514 Da

Explore the universe of human proteins at neXtProt for TMEM191C: NX_A6NGB0

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • REFSEQ proteins: NP_001193981.1  

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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:
     IPR028186 TMEM191C

    Graphical View of Domain Structure for InterPro Entry A6NGB0

    ProtoNet protein and cluster: A6NGB0

    UniProtKB/Swiss-Prot: T191C_HUMAN, A6NGB0
    Similarity: Belongs to the TMEM191 family


    TMEM191C 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
    T191C_HUMAN, A6NGB0: Membrane; Single-pass membrane protein (Potential)

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

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

    TMEM191C 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 TMEM191C
    Interactions:

        Search GeneGlobe Interaction Network for TMEM191C

    (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 TMEM191C (T191C)



    (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 TMEM191C gene: 
    NM_001207052.1  

    Unigene Cluster for TMEM191C:

    Transmembrane protein 191C
    Hs.376511  [show with all ESTs]
    Unigene Representative Sequence: AK094309
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000456303(lincRNA) ENST00000415764(lincRNA)(uc021wmg.1) ENST00000449424(lincRNA)(uc002zuu.2)
    ENST00000456153(lincRNA)(uc002zut.1) ENST00000453397(lincRNA) ENST00000413877(lincRNA) ENST00000432134(lincRNA)
    ENST00000417708(lincRNA)(uc010gtf.2) ENST00000427147(lincRNA) ENST00000425458(lincRNA) ENST00000446867(lincRNA)
    ENST00000545656(lincRNA) ENST00000536718(lincRNA)
    miRNA
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    Additional mRNA sequence: 

    AK093171.1 AK094309.1 AK094490.1 

    11 DOTS entries:

    DT.95071029  DT.40285479  DT.97812737  DT.120668123  DT.95071030  DT.99976712  DT.92421748  DT.95071035 
    DT.95071017  DT.102826374  DT.95071034 

    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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    Expression evidence for TMEM191C:none

    TMEM191C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGGAGATGG
    TMEM191C Expression
    About this image

    TMEM191C Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

    SOURCE GeneReport for Unigene cluster: Hs.376511
        Custom PCR Arrays for TMEM191C
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    In Situ
    Assay Products:
     

     
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    (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 human and chimp.

    Orthologs for TMEM191C gene from 1 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chimpanzee
    (Pan troglodytes)
    Mammalia TMEM191C1 uncharacterized LOC745970 96.83(n)
    95.97(a)
      745970  XM_001168736.3  XP_001168736.2 


    ENSEMBL Gene Tree for TMEM191C (if available)
    TreeFam Gene Tree for TMEM191C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TMEM191C gene
    TMEM191B  

    TMEM191C 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 TMEM191C (see all 27)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1835807501,2
    --5770280(+) TGCCTA/CCCCGT 1 -- us2k10--------
    rs1928973261,2
    --5770381(+) CTGCAA/GAGCCA 1 -- us2k10--------
    rs25428431,2
    C--5771401(+) TCCCCG/ATCCCC 2 /I /V mis11Minor allele frequency- A:0.50NA 2
    rs778686181,2
    C,F--21822301(+) AGGAGG/TACTTG 2 D Y mis11Minor allele frequency- T:0.00NA 2
    rs763114281,2
    C--21822322(+) GTCCTA/GGAATG 1 -- int11Minor allele frequency- G:0.00NA 2
    rs1928334771,2
    --21822362(+) GCGGGA/CGGAAG 1 -- int10--------
    rs30161181,2
    C--21822373(+) ggggcA/Gggatc 1 -- int10--------
    rs1130265581,2
    C--21822665(+) GGAACC/TGCAGA 2 P L mis10--------
    rs4302141,2
    C,F--21822725(+) GGTGCT/CTGAGC 1 -- int13Minor allele frequency- C:0.35MN NA 188
    rs3952951,2
    C,F--21822744(+) GAGGTC/GTTTAG 1 -- int12Minor allele frequency- G:0.00NA 4

    HapMap Linkage Disequilibrium report for TMEM191C (21820712 - 21825558 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TMEM191C (see all 20):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2678291CNV Deletion23128226
    nsv436864CNV Insertion17901297
    nsv914448CNV Loss21882294
    nsv914458CNV Loss21882294
    nsv428386CNV Loss18775914
    nsv834145CNV Loss17160897
    nsv914457CNV Loss21882294
    dgv4879n71CNV Loss21882294
    dgv4880n71CNV Gain21882294
    dgv4875n71CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing TMEM191C
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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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      --

    (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 TMEM191C gene integrated from 10 sources:
    (articles sorted by number of sources associating them with TMEM191C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. The DNA sequence of human chromosome 22. (PubMed id 10591208)2 Dunham I.... Wright H. (Nature 1999)

    (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: 645426 HGNC: 33601 Ensembl:ENSG00000206140 euGenes: HUgn645426 ECgene: TMEM191C
    H-InvDB: TMEM191C

    (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 TMEM191C 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 TMEM191C gene:
    Search GeneIP for patents involving TMEM191C

    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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