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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TMCO5A Gene

protein-coding   GIFtS: 39
GCID: GC15P038227

Transmembrane And Coiled-Coil Domains 5A

(Previous name: transmembrane and coiled-coil domains 5)
(Previous symbol: TMCO5)
  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)
About This Section

Aliases
Transmembrane And Coiled-Coil Domains 5A1 2
TMCO51 2 3
Transmembrane And Coiled-Coil Domains 51 2
Transmembrane And Coiled-Coil Domain-Containing Protein 5A2

External Ids:    HGNC: 285581   Entrez Gene: 1459422   Ensembl: ENSG000001660697   UniProtKB: Q8N6Q13   

Export aliases for TMCO5A gene to outside databases

Previous GC identifers: GC15P036016 GC15P015072


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for TMCO5A Gene: 
TMCO5A (transmembrane and coiled-coil domains 5A) is a protein-coding gene. Diseases associated with TMCO5A include paraplegia, and ovarian cancer.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NT_010194.17  NC_018926.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TMCO5A gene promoter:
         HOXA3   Pax-6   MyoD   POU3F2 (N-Oct-5a)   CUTL1   RelA   POU3F2   C/EBPalpha   AREB6   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMCO5A promoter sequence
   Search SABiosciences Chromatin IP Primers for TMCO5A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMCO5A


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

Entrez Gene cytogenetic band: 15q14   Ensembl cytogenetic band:  15q14   HGNC cytogenetic band: 15q14

TMCO5A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMCO5A gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P038227:  view genomic region     (about GC identifiers)

Start:
38,214,140 bp from pter      End:
38,259,925 bp from pter
Size:
45,786 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TMC5A_HUMAN, Q8N6Q1 (See protein sequence)
Recommended Name: Transmembrane and coiled-coil domain-containing protein 5A  
Size: 288 amino acids; 34174 Da
Subcellular location: Membrane; Single-pass membrane protein (Potential)
Secondary accessions: Q8NA63
Alternative splicing: 2 isoforms:  Q8N6Q1-1   Q8N6Q1-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TMCO5A: NX_Q8N6Q1

Explore proteomics data for TMCO5A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8N6Q1

  • TMCO5A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TMCO5A Protein Expression
    REFSEQ proteins: NP_689666.2  
    ENSEMBL proteins: 
     ENSP00000453162   ENSP00000453271   ENSP00000454112   ENSP00000453369   ENSP00000453047  
     ENSP00000453561   ENSP00000327234   ENSP00000445914  

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--

    TMCO5A for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR026617 Tmco5

    Graphical View of Domain Structure for InterPro Entry Q8N6Q1

    ProtoNet protein and cluster: Q8N6Q1

    UniProtKB/Swiss-Prot: TMC5A_HUMAN, Q8N6Q1
    Similarity: Belongs to the TMCO5 family


    TMCO5A 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Phenotypes:
         3 GenomeRNAi human phenotypes for TMCO5A:
     Decreased viability with pacli  Increased cell number in S and  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TMCO5A 
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TMCO5A

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TMCO5A (TMC5A)

    Search CenterWatch for drugs/clinical trials and news about TMCO5A / TMC5A

    (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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TMCO5A gene: 
    NM_152453.2  

    Unigene Cluster for TMCO5A:

    Transmembrane and coiled-coil domains 5A
    Hs.179646  [show with all ESTs]
    Unigene Representative Sequence: AK093126
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000560841 ENST00000558625 ENST00000559502(uc001zjv.1) ENST00000558148
    ENST00000558158 ENST00000560653 ENST00000559813(uc010bbc.1) ENST00000319669(uc001zjw.3)
    ENST00000540944
    miRNA
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    Inhib. RNA
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                         Customized lentivirus expression plasmids for stable overexpression of TMCO5A 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMCO5A
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMCO5A

    Additional mRNA sequence: 

    AK093126.1 AK310517.1 BC029221.2 

    3 DOTS entries:

    DT.202687  DT.100017918  DT.102821379 

    24 AceView cDNA sequences:

    BC029221 NM_152453 BP369168 BI826726 AX747940 AW515763 BG772013 AK093126 
    CD637841 BX089029 BM563908 BP371418 BI461956 AW118161 AA610065 BI832004 
    BG720715 BI561792 CD637836 AA778603 CD694802 AI218668 CD637838 CD637839 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TMCO5A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAACTTGTGG
    TMCO5A Expression
    About this image


    See TMCO5A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TMCO5A

    SOURCE GeneReport for Unigene cluster: Hs.179646
        SABiosciences Custom PCR Arrays for TMCO5A
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMCO5A

    (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)
    About This Section

    This gene was present in the common ancestor of human and mouse.

    Orthologs for TMCO5A gene from 1/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmco51 , 5 transmembrane and coiled-coil domains 51, 5 77.66(n)1
    71.18(a)1
      2 (59.03 cM)5
    673561  NM_026104.41  NP_080380.11 
     1168786915 


    ENSEMBL Gene Tree for TMCO5A (if available)
    TreeFam Gene Tree for TMCO5A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TMCO5A gene
    1 SIMAP similar gene for TMCO5A using alignment to 7 protein entries:     TMC5A_HUMAN (see all proteins):
    TMCO5B

    TMCO5A for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for TMCO5A
    PGOHUM00000257972


    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/481 SNPs in TMCO5A are shown (see all 481)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1864343621,2
    --38225484(+) GTTTTA/CATGCC 1 -- us2k10--------
    rs1434168811,2
    --38225540(+) CACAAC/TTGGAG 1 -- us2k10--------
    rs1165536601,2
    C,F--38225619(+) CGCTTC/TTTCTG 1 -- us2k11Minor allele frequency- T:0.07WA 118
    rs1462704201,2
    --38225625(+) TTCTGC/TGCCAC 1 -- us2k10--------
    rs1394621571,2
    --38225869(+) GAAAAG/TGTTTA 1 -- us2k10--------
    rs1441529501,2
    --38226060(+) ACAGAA/CTCCAG 1 -- us2k10--------
    rs29379811,2
    C,F,A,H--38226280(+) ttattG/Ttattg 1 -- us2k1 tfbs310Minor allele frequency- T:0.29NA WA EA 372
    rs1469955411,2
    C--38226318(+) CGCGC-/GT/TG 
            
    GCGCG
    1 -- us2k10--------
    rs559387701,2
    C--38226319(+) GCGCG-/CA/T  
      G
    /TGCG
    CGCGC
    1 -- us2k10--------
    rs71623431,2
    C--38226320(+) gcgcgT/Cgcgcg 1 -- us2k12Minor allele frequency- C:0.00NA 4

    HapMap Linkage Disequilibrium report for TMCO5A (38214140 - 38259925 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for TMCO5A: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TMCO5A
    DNA2.0 Custom Variant and Variant Library Synthesis for TMCO5A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for TMCO5A:    About MalaCards
    paraplegia    ovarian cancer


    TMCO5A for disorders           About GeneDecksing

    Genetic Association Database (GAD): TMCO5A
    Human Genome Epidemiology (HuGE) Navigator: TMCO5A (1 document)

    Export disorders for TMCO5A 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)
    About This Section

    PubMed articles for TMCO5A gene integrated from 9 sources:
    (articles sorted by number of sources associating them with TMCO5A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Multi-ethnic genetic association study of carotid int ima-media thickness using a targeted cardiovascular SNP microarray. (PubMed id 19679847)1, 4 Lanktree M.B....Anand S.S. (2009)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. 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. (2002)
    4. Progression-free survival in ovarian cancer is reflec ted in epigenetic DNA methylation profiles. (PubMed id 21577013)1 Bauerschlag D.O....Wagner W. (2011)
    5. Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. (PubMed id 18711365)4 Ferreira M.A....Craddock N. (2008)
    6. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PubMed id 17903300)4 Fox C.S....Atwood L.D. (2007)
    7. Genome-wide association with select biomarker traits in the Framingham Heart Study. (PubMed id 17903293)4 Benjamin E.J....Vasan R.S. (2007)
    8. 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. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 145942 HGNC: 28558 AceView: MGC35118 Ensembl:ENSG00000166069 euGenes: HUgn145942
    ECgene: TMCO5A H-InvDB: TMCO5A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TMCO5A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TMCO5A gene:
    Search GeneIP for patents involving TMCO5A

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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