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TMEM217 Gene

protein-coding   GIFtS: 42
GCID: GC06M037179

Transmembrane Protein 217

(Previous name: chromosome 6 open reading frame 128)
(Previous symbol: C6orf128)
  Search for TMEM217
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 2171 2
C6orf1281 2 3
Chromosome 6 Open Reading Frame 1281
dJ355M6.22

External Ids:    HGNC: 212381   Entrez Gene: 2214682   Ensembl: ENSG000001727387   UniProtKB: Q8N7C43   

Export aliases for TMEM217 gene to outside databases

Previous GC identifers: GC06M037288 GC06M036898


(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 TMEM217 Gene:
TMEM217 (transmembrane protein 217) is a protein-coding 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)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NC_018917.2  NT_007592.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the TMEM217 gene promoter:
         TBP   TFIID   POU3F1   Cart-1   Nkx2-5   RORalpha2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMEM217 promoter sequence
   Search Chromatin IP Primers for TMEM217

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM217


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

Entrez Gene cytogenetic band: 6p21.2   Ensembl cytogenetic band:  6p21.2   HGNC cytogenetic band: 6p21.31-p21.2

TMEM217 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM217 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M037179:  view genomic region     (about GC identifiers)

Start:
37,179,954 bp from pter      End:
37,225,931 bp from pter
Size:
45,978 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: TM217_HUMAN, Q8N7C4 (See protein sequence)
Recommended Name: Transmembrane protein 217  
Size: 229 amino acids; 26582 Da
Secondary accessions: Q8TC54
Alternative splicing: 2 isoforms:  Q8N7C4-1   Q8N7C4-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TMEM217: NX_Q8N7C4

Explore proteomics data for TMEM217 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn39, Asn156

  • See TMEM217 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001156372.1  NP_001273330.1  NP_660359.2  

    ENSEMBL proteins: 
     ENSP00000349198   ENSP00000338164  

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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:
     IPR027862 DUF4534

    Graphical View of Domain Structure for InterPro Entry Q8N7C4

    ProtoNet protein and cluster: Q8N7C4


    Find genes that share domains with TMEM217           About GenesLikeMe


    (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, 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.)
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    Phenotypes:
         1 GenomeRNAi human phenotype for TMEM217:
     Decreased viability with pacli 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TMEM217
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    hsa-mir-335-5p (MIRT017435)

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    hsa-miR-640 hsa-miR-519c-3p hsa-miR-1286 hsa-miR-519a hsa-miR-519b-3p hsa-miR-1253
    SwitchGear 3'UTR luciferase reporter plasmidTMEM217 3' UTR sequence
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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
    TM217_HUMAN, Q8N7C4: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3

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

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

    Find genes that share ontologies with TMEM217           About GenesLikeMe


    (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 TMEM217
    Interactions:

        Search GeneGlobe Interaction Network for TMEM217

    (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 TMEM217 (TM217)



    (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 )
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    REFSEQ mRNAs for TMEM217 gene (3 alternative transcripts): 
    NM_001162900.1  NM_001286401.1  NM_145316.3  

    Unigene Cluster for TMEM217:

    Transmembrane protein 217
    Hs.520101  [show with all ESTs]
    Unigene Representative Sequence: NM_001162900
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000356757(uc010jwr.3) ENST00000336655(uc003onl.3) ENST00000497775(uc010jws.3)
    ENST00000478262 ENST00000482580 ENST00000357219(uc003onm.4)
    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate TMEM217:
    hsa-miR-640 hsa-miR-519c-3p hsa-miR-1286 hsa-miR-519a hsa-miR-519b-3p hsa-miR-1253
    SwitchGear 3'UTR luciferase reporter plasmidTMEM217 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TMEM217
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM217
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat TMEM217
      QuantiFast Probe-based Assays in human, mouse, rat TMEM217

    Additional mRNA sequence: 

    AK098666.1 BC009625.1 BC026012.1 BC029657.1 

    4 DOTS entries:

    DT.91656887  DT.97775206  DT.101975478  DT.75169206 

    21 AceView cDNA sequences:

    BC009625 AI830286 AK098666 BE905397 NM_145316 BX099333 BG285024 BC029657 
    BC026012 AI125204 AI024642 BG182260 BI464413 AA813195 BE549086 AW188099 
    BQ021242 BI826996 BF081510 BI462473 BF736619 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for TMEM217    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b
    SP1:                                          
    SP2:              -     -     -               
    SP3:                                          
    SP4:                          -               


    ECgene alternative splicing isoforms for TMEM217

    (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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    TMEM217 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCAGATGCCA
    TMEM217 Expression
    About this image

    TMEM217 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TMEM217 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.520101
        Custom PCR Arrays for TMEM217
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM217

    (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 TMEM217 gene from Selected species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmem2171 , 5 transmembrane protein 2171, 5 67.42(n)1
    57.63(a)1
      17 (15.42 cM)5
    711381  NM_001162901.11  NP_001156373.11 
     295260335 
    lizard
    (Anolis carolinensis)
    Reptilia TMEM2176
    transmembrane protein 217
    27(a)
    1 ↔ 1
    GL343382.1(259358-268979)


    ENSEMBL Gene Tree for TMEM217 (if available)
    TreeFam Gene Tree for TMEM217 (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 TMEM217 (see all 864)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs718313931,2
    C--36902769(+) TGTGT-/GAGAAAC 1 -- int10--------
    rs1848820821,2
    --37179710(+) AAAAAC/GAATAA 1 -- ds50010--------
    rs1482550701,2
    --37179984(+) CACATA/GTCATT 1 -- ut310--------
    rs780129751,2
    F--37180036(+) GATCCG/ACACAA 1 -- ut311Minor allele frequency- A:0.06WA 118
    rs10554611,2
    C,F,H--37180043(-) GGGCAG/AGTTGT 1 -- ut31 ese322Minor allele frequency- A:0.07NA EA NS 2544
    rs1413090811,2
    --37180132(+) GTAGGA/GAGGGT 1 -- ut310--------
    rs10554601,2
    C,F,O,H--37180136(-) TGGAAC/GCCTCC 1 -- ut31 ese318Minor allele frequency- G:0.19MN NA EA NS 1586
    rs781007271,2
    C,F--37180180(+) TGGCAT/GCTGGC 1 -- ut311Minor allele frequency- G:0.06WA 118
    rs743599741,2
    C,F--37180204(+) ACTTCC/TGGTAC 1 -- ut311Minor allele frequency- T:0.08WA 118
    rs12243291,2
    C,F,O,A,H--37180237(+) GTCATA/GAGTTC 1 -- ut31 ese330Minor allele frequency- G:0.25MN NA NS EA WA CSA 3036

    HapMap Linkage Disequilibrium report for TMEM217 (37179954 - 37225931 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for TMEM217:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv527191CNV Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TMEM217
    DNA2.0 Custom Variant and Variant Library Synthesis for TMEM217

    (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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    Find genes that share disorders with TMEM217           About GenesLikeMe

    Genetic Association Database (GAD): TMEM217
    Human Genome Epidemiology (HuGE) Navigator: TMEM217 (1 document)

    Export disorders for TMEM217 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 TMEM217 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with TMEM217)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PubMed id 19204726)1, 4 Chapuis J....Lambert J.C. (Mol. Psychiatry 2009)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    5. Genome-wide association of mood-incongruent psychotic bipolar disorder. (PubMed id 23092984)1 Goes F.S....Potash J.B. (Transl Psychiatry 2012)
    6. 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)
    7. Modification and identification of cytochrome b5 carboxyl groups involved in protein-protein interaction with cytochrome b5 reductase. (PubMed id 221468)1 Dailey H.A. and Strittmatter P. (J. Biol. Chem. 1979)

    (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: 221468 HGNC: 21238 AceView: C6orf128 Ensembl:ENSG00000172738 euGenes: HUgn221468
    ECgene: TMEM217 H-InvDB: TMEM217

    (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 TMEM217 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 TMEM217 gene:
    Search GeneIP for patents involving TMEM217

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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     Search Addgene for plasmids for TMEM217
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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