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TMC6 Gene

protein-coding   GIFtS: 56
GCID: GC17M076108

Transmembrane Channel-Like 6

(Previous name: epidermodysplasia verruciformis 1)
(Previous symbol: EVER1)
  See related diseases
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 Channel-Like 61 2     EVIN12 3
EVER11 2 3 5     EV12 5
Epidermodysplasia Verruciformis 11 2     LAK-4P2
Epidermodysplasia Verruciformis Protein 12 3     Expressed In Activated T/LAK Lymphocytes2
Protein LAK-42 3     Transmembrane Channel-Like Protein 62

External Ids:    HGNC: 180211   Entrez Gene: 113222   Ensembl: ENSG000001415247   OMIM: 6058285   UniProtKB: Q7Z4033   

Export aliases for TMC6 gene to outside databases

Previous GC identifers: GC17M073619 GC17M071533


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TMC6 Gene:
Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility
to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin.
EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes
encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form
transmembrane channels. This gene encodes a transmembrane channel-like protein with 10 transmembrane domains and
2 leucine zipper motifs. (provided by RefSeq, Jul 2008)

GeneCards Summary for TMC6 Gene:
TMC6 (transmembrane channel-like 6) is a protein-coding gene. Diseases associated with TMC6 include epidermodysplasia verruciformis, and pityriasis versicolor. An important paralog of this gene is TMC7.

UniProtKB/Swiss-Prot: TMC6_HUMAN, Q7Z403
Function: Probable ion channel (By similarity)

Gene Wiki entry for TMC6 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:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TMC6 gene promoter:
         c-Ets-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TMC6 promoter sequence
   Search Chromatin IP Primers for TMC6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMC6


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

Entrez Gene cytogenetic band: 17q25.3   Ensembl cytogenetic band:  17q25.3   HGNC cytogenetic band: 17q25.3

TMC6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMC6 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M076108:  view genomic region     (about GC identifiers)

Start:
76,106,539 bp from pter      End:
76,128,488 bp from pter
Size:
21,950 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TMC6_HUMAN, Q7Z403 (See protein sequence)
Recommended Name: Transmembrane channel-like protein 6  
Size: 805 amino acids; 90045 Da
Sequence caution: Sequence=AAH35648.1; Type=Erroneous initiation; Sequence=BAA24179.2; Type=Erroneous initiation;
Sequence=BAB84891.1; Type=Erroneous initiation;
Secondary accessions: O43284 Q45VJ2 Q8IU98 Q8IUI7 Q8IWU8 Q8TEQ7 Q9HAG5
Alternative splicing: 4 isoforms:  Q7Z403-1   Q7Z403-2   Q7Z403-3   Q7Z403-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TMC6: NX_Q7Z403

Explore proteomics data for TMC6 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys151, Lys409
  • Glycosylation2 at Asn103, Asn312
  • Modification sites at PhosphoSitePlus

  • See TMC6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001120670.1  NP_009198.4  

    ENSEMBL proteins: 
     ENSP00000465261   ENSP00000376260   ENSP00000313408   ENSP00000306405   ENSP00000464853  
     ENSP00000465359   ENSP00000468255   ENSP00000466885   ENSP00000467016   ENSP00000466159  
     ENSP00000313479  

    TMC6 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for TMC6

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    TMC6 Assay Products:

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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:
     IPR012496 TMC

    Graphical View of Domain Structure for InterPro Entry Q7Z403

    ProtoNet protein and cluster: Q7Z403

    1 Blocks protein domain: IPB012496 TMC

    UniProtKB/Swiss-Prot: TMC6_HUMAN, Q7Z403
    Similarity: Belongs to the TMC family


    TMC6 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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TMC6_HUMAN, Q7Z403
    Function: Probable ion channel (By similarity)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI18158319
         
    TMC6 for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Tmc6):
     hematopoietic system  homeostasis/metabolism  immune system  integument 

    TMC6 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TMC6
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TMC6
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TMC6

    miRNA
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    miRTarBase miRNAs that target TMC6:
    hsa-mir-335-5p (MIRT017951), hsa-mir-195-5p (MIRT044869)

    Block miRNA regulation of human, mouse, rat TMC6 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate TMC6:
    hsa-miR-518a-5p hsa-miR-3121-3p hsa-miR-1207-5p hsa-miR-450b-5p
    SwitchGear 3'UTR luciferase reporter plasmidTMC6 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TMC6

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): TMC6 (NM_007267)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMC6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMC6

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMC6


    (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
    TMC6_HUMAN, Q7Z403: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3
    nucleus2
    endosome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA12426567
    GO:0005783endoplasmic reticulum IDA12426567
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005794Golgi apparatus IDA18158319
    GO:0016021integral component of membrane IEA--

    TMC6 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 TMC6
    Interactions:

        Search GeneGlobe Interaction Network for TMC6

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for TMC6 (ENSP000003134084) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport IEA--
    GO:0008150biological_process ND--

    TMC6 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 TMC6



    (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,
    Conferences by KenesGroup, 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 TMC6 gene (2 alternative transcripts): 
    NM_001127198.1  NM_007267.6  

    Unigene Cluster for TMC6:

    Transmembrane channel-like 6
    Hs.632227  [show with all ESTs]
    Unigene Representative Sequence: AK074065
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000590602 ENST00000592076 ENST00000392467(uc010dhf.1 uc002juk.2 uc002jun.4 uc002juo.2)
    ENST00000322914(uc002juj.1 uc002jul.1 uc002jum.4) ENST00000590494
    ENST00000306591(uc010dhg.1 uc010wtp.1 uc010wtq.1) ENST00000593044
    ENST00000591436 ENST00000589933 ENST00000590934 ENST00000591756 ENST00000588087
    ENST00000589553 ENST00000585849 ENST00000586271 ENST00000589271 ENST00000591594
    ENST00000592063
    miRNA
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    Block miRNA regulation of human, mouse, rat TMC6 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate TMC6:
    hsa-miR-518a-5p hsa-miR-3121-3p hsa-miR-1207-5p hsa-miR-450b-5p
    SwitchGear 3'UTR luciferase reporter plasmidTMC6 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for TMC6
    Predesigned siRNA for gene silencing in human, mouse, rat TMC6
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): TMC6 (NM_007267)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMC6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMC6
    Primer
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    OriGene qPCR primer pairs and template standards for TMC6
    OriGene qSTAR qPCR primer pairs in human, mouse for TMC6
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TMC6
      QuantiTect SYBR Green Assays in human, mouse, rat TMC6
      QuantiFast Probe-based Assays in human, mouse, rat TMC6

    Additional mRNA sequence: 

    AB002405.2 AK021738.1 AK074065.1 AK096076.1 AK303165.1 AK303584.1 AK310734.1 AY057379.1 
    AY099356.1 AY099357.1 AY236496.1 BC007766.1 BC018346.1 BC023597.2 BC035648.1 BC105697.1 
    DQ104440.1 

    Selected DOTS entries (see all 31):

    DT.100038896  DT.212556  DT.100038901  DT.86856226  DT.100787279  DT.92432484  DT.100692092  DT.121009547 
    DT.100038899  DT.91805707  DT.100787285  DT.100038898  DT.95198569  DT.100038897  DT.91650003  DT.91984097 
    DT.95245867  DT.95340056  DT.100035410  DT.91754331  DT.100787282  DT.100812189  DT.121009548  DT.121009571 

    Selected AceView cDNA sequences (see all 244):

    BU689228 CR596410 BQ686104 CA308911 BM563964 CA444930 BQ049798 BE746094 
    BQ957570 BM854639 BQ711012 CB529021 BU838175 BE048247 BM756205 BQ082390 
    BU146939 BU633137 AI214155 BU148478 AI336551 AK021738 AB002405 AA992330 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TMC6 (see all 19)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d · 3e · 3f · 3g ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b · 6c · 6d · 6e ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^
    SP1:        -     -     -     -     -     -     -     -     -     -                             -     -     -     -                       -                     
    SP2:                                                        -     -                             -     -     -     -                       -                     
    SP3:                                                                                            -     -     -     -                       -                     
    SP4:                                                                                            -     -     -     -                       -                     
    SP5:                                                                                                                                                            

    ExUns: 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20a · 20b ^ 21
    SP1:  -                       -                       -                 -                                 
    SP2:  -                       -                       -                 -                                 
    SP3:  -                       -                       -                 -                                 
    SP4:  -                       -     -     -     -     -     -     -     -     -     -     -     -         
    SP5:                          -                 -     -                 -                                 


    ECgene alternative splicing isoforms for TMC6

    (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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    TMC6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACGAGGCCG
    TMC6 Expression
    About this image


    TMC6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter
     
     Tonsil (Hematopoietic System)
     
     Spleen (Hematopoietic System)
    TMC6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TMC6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.632227

    UniProtKB/Swiss-Prot: TMC6_HUMAN, Q7Z403
    Tissue specificity: Expressed in placenta, prostate, testis, activated T-lymphocytes and lymphokine-activated
    killer (LAK) lymphocytes

        Custom PCR Arrays for TMC6
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    QuantiFast Probe-based Assays in human, mouse, rat TMC6
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMC6

    (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 animals.

    Orthologs for TMC6 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmc61 , 5 transmembrane channel-like gene family 61, 5 78.95(n)1
    75.81(a)1
      11 (82.96 cM)5
    2173531  NM_145439.21  NP_663414.31 
     1177659885 
    chicken
    (Gallus gallus)
    Aves LOC1008591421 transmembrane channel-like protein 6-like 66.31(n)
    59.52(a)
      100859142  XM_003642364.2  XP_003642412.2 
    lizard
    (Anolis carolinensis)
    Reptilia TMC66
    transmembrane channel-like 6
    60(a)
    1 ↔ 1
    2(102357259-102376620)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.61202 Xenopus laevis transcribed sequence with weak similarity more 70.95(n)    BJ620886.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tmc6b1 transmembrane channel-like 6b 59.22(n)
    52.35(a)
      436978  NM_001002705.1  NP_001002705.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG32806
    --
    8(a)
    1 → many
    3L(9596701-9607009)
    worm
    (Caenorhabditis elegans)
    Secernentea tmc-26
    tmc-16
    Protein TMC-1 (tmc-1) mRNA, complete cds
    12(a)
    11(a)
    many ↔ many
    many ↔ many
    X(9303724-9310483) WBGene00015177
    X(1163153-1177160) WBGene00020490


    ENSEMBL Gene Tree for TMC6 (if available)
    TreeFam Gene Tree for TMC6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TMC6 gene
    TMC72  TMC32  TMC22  TMC82  TMC52  TMC42  TMC12  
    1 SIMAP similar gene for TMC6 using alignment to 7 protein entries:     TMC6_HUMAN (see all proteins):
    TMC5

    TMC6 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for TMC6
    PGOHUM00000243986


    (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 TMC6 (see all 785)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs713859321,2
    C--76111846(+) ACAGGA/GGCGAA 2 -- int12Minor allele frequency- G:0.25NA 4
    rs1134915891,2
    C--76111888(+) ACAGGA/GGCGAA 2 -- int12Minor allele frequency- G:0.00WA NA 4
    rs1134181071,2
    C--76111930(+) ACAGGA/GGCGAA 2 -- int11Minor allele frequency- G:0.00WA 2
    rs1112317351,2
    C--76111951(+) ACAGGA/GGCGAA 2 -- int11Minor allele frequency- G:0.00WA 2
    rs1132099591,2
    C--76111972(+) ACAGGG/AGCGAA 2 -- int11Minor allele frequency- A:0.50NA 2
    rs38349681,2
    C--76124810(-) CGCCC-/C/CCC 
            
    CTGGG
    4 -- int1 cds1 ut511NA 2
    rs720229871,2
    C--76125196(+) GGCAG-/CGCCCC
            
    CCCCC
    1 -- int10--------
    rs1149646921,2
    C,F--77194580(+) CCCAGG/AATCAC 2 -- ds50011Minor allele frequency- A:0.12WA 118
    rs754186331,2
    F--77194650(+) CTGTTC/TGCCTC 2 -- ds50011Minor allele frequency- T:0.01NA 120
    rs739996391,2
    C,F--77194674(+) TGGTTA/GCCTAT 2 -- ds50012Minor allele frequency- G:0.04WA 120

    HapMap Linkage Disequilibrium report for TMC6 (76106539 - 76128488 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TMC6 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2716303CNV Deletion23290073
    esv2716302CNV Deletion23290073
    esv2716301CNV Deletion23290073
    esv2716304CNV Deletion23290073
    dgv3277n71CNV Loss21882294
    nsv908871CNV Loss21882294
    nsv515500CNV Loss19592680
    dgv3275n71CNV Loss21882294
    nsv908860CNV Loss21882294
    nsv470607CNV Loss18288195

    Human Gene Mutation Database (HGMD): TMC6
    Locus Specific Mutation Databases (LSDB): TMC6

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TMC6
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605828   
    OMIM disorders: 226400  
    UniProtKB/Swiss-Prot: TMC6_HUMAN, Q7Z403
  • Epidermodysplasia verruciformis (EV) [MIM:226400]: Rare autosomal recessive genodermatosis associated
    with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human
    papillomaviruses. Infection leads to persistent wart-like or macular lesions. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 10 diseases for TMC6:    
    About MalaCards
    epidermodysplasia verruciformis    pityriasis versicolor    squamous cell carcinoma    psoriasis
    cervical cancer    cervicitis    multiple myeloma    myeloma
    malaria    prostatitis

    3 diseases from the University of Copenhagen DISEASES database for TMC6:
    Epidermodysplasia verruciformis     Pityriasis versicolor     Skin cancer

    TMC6 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for TMC6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    epidermodysplasia verruciformis 95.5 5 19706093 (2), 17008061 (1), 12906855 (1), 17139267 (1)
    skin carcinoma 77.1 1 12812529 (1)

    Genetic Association Database (GAD): TMC6
    Human Genome Epidemiology (HuGE) Navigator: TMC6 (2 documents)

    Export disorders for TMC6 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 TMC6 gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with TMC6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis. (PubMed id 12426567)1, 2, 3, 9 Ramoz N.... Favre M. (Nat. Genet. 2002)
    2. Novel mutations of EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis. (PubMed id 15042430)1, 2, 9 Tate G.... Mitsuya T. (J. Hum. Genet. 2004)
    3. Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis. (PubMed id 12906855)1, 2, 9 Kurima K.... Griffith A.J. (Genomics 2003)
    4. Four mutations in Epidermodysplasia verruciformis 1 (EVER1) gene are not contributors to susceptibility in RRP. (PubMed id 16487602)1, 4 Donfack J....Post J.C. (Int. J. Pediatr. Otorhinolaryngol. 2006)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Identification of a novel mutation and a genetic polymorphism of EVER1 gene in two families with epidermodysplasia verruciformis. (PubMed id 17008061)1, 9 Zuo Y.G....Wang B. (J. Dermatol. Sci. 2006)
    8. Autosomal dominant epidermodysplasia verruciformis lacking a known EVER1 or EVER2 mutation. (PubMed id 19706093)1, 9 McDermott D.F....Hwang S.T. (Pediatr Dermatol 2009)
    9. TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins. (PubMed id 12812529)1, 9 Keresztes G.... Heller S. (BMC Genomics 2003)
    10. Regulation of cellular zinc balance as a potential mechanism of EVER-mediated protection against pathogenesis by cutaneous oncogenic human papillomaviruses. (PubMed id 18158319)1, 9 Lazarczyk M....Favre M. (J. Exp. Med. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 11322 HGNC: 18021 AceView: EVER1 Ensembl:ENSG00000141524 euGenes: HUgn11322
    ECgene: TMC6 H-InvDB: TMC6

    (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 TMC6 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TMC6 Genetics and Cytogenetics in Oncology and Haematology
    TMC6basehttp://bioinf.uta.fi/TMC6base/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TMC6 gene:
    Search GeneIP for patents involving TMC6

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



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