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

TMEM243 Gene

protein-coding   GIFtS: 34
GCID: GC07M086826

Transmembrane Protein 243, Mitochondrial

(Previous name: chromosome 7 open reading frame 23)
(Previous symbol: C7orf23)
  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 Protein 243, Mitochondrial1 2     MM-TRAG2
C7orf231 2 3     MDR1 And Mitochondrial Taxol Resistance Associated2
Chromosome 7 Open Reading Frame 231     Transmembrane Protein 2432
MDR1 And Mitochondrial Taxol Resistance Associated Gene1     Transmembrane Protein C7orf232

External Ids:    HGNC: 217071   Entrez Gene: 791612   Ensembl: ENSG000001351857   UniProtKB: Q9BU793   

Export aliases for TMEM243 gene to outside databases


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

GeneCards Summary for TMEM243 Gene: 
TMEM243 (transmembrane protein 243, mitochondrial) is a protein-coding gene. Diseases associated with TMEM243 include major depressive disorder, and osteosarcoma.


(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_000007.13  NT_007933.15  NC_018918.2  NT_079595.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for TMEM243
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): TMEM243 promoter sequence
   Search SABiosciences Chromatin IP Primers for TMEM243

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMEM243


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

Entrez Gene cytogenetic band: 7q21.12   Ensembl cytogenetic band:  7q21.12   HGNC cytogenetic band: 7q21.12

TMEM243 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM243 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M086826:  view genomic region     (about GC identifiers)

Start:
86,825,478 bp from pter      End:
86,849,903 bp from pter
Size:
24,426 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 86,156,988-86,180,540     

(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: TM243_HUMAN, Q9BU79 (See protein sequence)
Recommended Name: Transmembrane protein 243  
Size: 118 amino acids; 13391 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: A4D1C6 B2R9I4 D6W5P1

Explore the universe of human proteins at neXtProt for TMEM243: NX_Q9BU79

Explore proteomics data for TMEM243 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BU79

  • TMEM243 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TMEM243 Protein Expression
    REFSEQ proteins: NP_077291.1  
    ENSEMBL proteins: 
     ENSP00000257637   ENSP00000398083   ENSP00000407976   ENSP00000401897  

    Human Recombinant Protein Products for TMEM243: 
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    Browse Proteins at Cloud-Clone Corp. 

    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--

    TMEM243 for ontologies           About GeneDecksing



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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR022564 DUF2678

    Graphical View of Domain Structure for InterPro Entry Q9BU79

    ProtoNet protein and cluster: Q9BU79

    UniProtKB/Swiss-Prot: TM243_HUMAN, Q9BU79
    Similarity: Belongs to the TMEM243 family


    TMEM243 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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TMEM243 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TMEM243

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TMEM243 
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM243


    (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 TMEM243

    (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 TMEM243 (TM243)

    Search CenterWatch for drugs/clinical trials and news about TMEM243 / TM243

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 TMEM243 gene: 
    NM_024315.2  

    Unigene Cluster for TMEM243:

    Transmembrane protein 243, mitochondrial
    Hs.619593  [show with all ESTs]
    Unigene Representative Sequence: BC002837
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000257637(uc003uio.3) ENST00000433078 ENST00000481425 ENST00000423734
    ENST00000465976 ENST00000492231 ENST00000474074 ENST00000455575
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidTMEM243 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for TMEM243
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TMEM243
    Clone
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMEM243
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM243
    Sirion Biotech Customized lentivirus for stable overexpression of TMEM243 
                         Customized lentivirus expression plasmids for stable overexpression of TMEM243 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for TMEM243
    OriGene qSTAR qPCR primer pairs in human, mouse for TMEM243
    Search SABiosciences RT2 qPCR Primer Assays in human, mouse, rat TMEM243
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMEM243
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMEM243

    Additional mRNA sequence: 

    AK313794.1 BC002837.2 BT006973.1 

    14 DOTS entries:

    DT.92438795  DT.87013858  DT.100822907  DT.95166943  DT.121060032  DT.100822910  DT.87015777  DT.121060066 
    DT.121637465  DT.87015263  DT.95166826  DT.121060049  DT.92024814  DT.99981940 

    24/147 AceView cDNA sequences (see all 147):

    BX377970 CB120168 AI290487 BC002837 AW779551 AI372996 AA742186 AI885728 
    AA721353 AA805089 CD369016 AA953093 AW613431 AU119274 AI002435 BM857456 
    CD364537 CD364575 AI253664 BE219732 AA736652 BX116747 CB854687 BU784440 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for TMEM243    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b
    SP1:                                                  -               
    SP2:                    -     -                                       
    SP3:                          -                                       
    SP4:                                -                 -               
    SP5:                                                                  


    ECgene alternative splicing isoforms for TMEM243

    (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

    TMEM243 expression in normal human tissues (normalized intensities)      TMEM243 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TMEM243 Expression
    About this image


    TMEM243 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Eye (Sensory Organs)
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Epidermis (Integumentary System)
     
     Dermis (Integumentary System)

    See TMEM243 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TMEM243

    SOURCE GeneReport for Unigene cluster: Hs.619593
        SABiosciences Custom PCR Arrays for TMEM243
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for TMEM243
    OriGene qSTAR qPCR primer pairs in human, mouse for TMEM243
    Search SABiosciences RT2 qPCR Primer Assays in human, mouse, rat TMEM243
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMEM243
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMEM243
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM243

    (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 chordates.

    Orthologs for TMEM243 gene from 5/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmem2435
    4930420K17Rik1
    RIKEN cDNA 4930420K17 gene1, 5 94.07(n)1
    97.46(a)1
      5 (3.69 cM)5
    6529251  NM_001081029.11  NP_001074498.11 
     91007375 
    chicken
    (Gallus gallus)
    Aves C1H7orf231 chromosome 1 open reading frame, human C7orf23 82.61(n)
    82.61(a)
      418647  XM_416845.3  XP_416845.3 
    lizard
    (Anolis carolinensis)
    Reptilia C7ORF236
    Uncharacterized protein
    78(a)
    1 ↔ 1
    GL343559.1(336603-364922)
    African clawed frog
    (Xenopus laevis)
    Amphibia BX854999.12   -- 77.39(n)    BX854999.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:856761 zgc:85676 70.06(n)
    78.81(a)
      405855  NM_212919.1  NP_998084.1 


    ENSEMBL Gene Tree for TMEM243 (if available)
    TreeFam Gene Tree for TMEM243 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/531 SNPs in TMEM243 are shown (see all 531)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1895745781,2
    --86826159(+) TGTTTA/TTTCCC 1 -- int10--------
    rs1454087981,2
    C--86826241(+) TCTTA-/CTCTGAG 1 -- int10--------
    rs1808082531,2
    --86826261(+) TCCAAC/GATCAT 1 -- int10--------
    rs732085151,2
    C--86826298(+) TTCCTC/TTATAT 1 -- int14Minor allele frequency- T:0.06CSA WA NA EA 360
    rs1152173871,2
    F--86826353(+) ACATAT/CACCTG 1 -- int11Minor allele frequency- C:0.01WA 118
    rs102744791,2
    C--86826422(+) TTCAGA/CCCGTA 1 -- int10--------
    rs1409337451,2
    --86826452(+) TATTTA/GGATTA 1 -- int10--------
    rs102451211,2
    C,H--86826460(+) TTAAAC/TTAGTT 1 -- int14Minor allele frequency- T:0.00NS EA 420
    rs20579841,2
    C,F,O,A,H--86826540(+) TTCTTT/CTTCGG 1 -- int123Minor allele frequency- C:0.28NS EA NA WA CSA 1290
    rs732085161,2
    C--86826575(+) AGTGAA/GTGAGA 1 -- int14Minor allele frequency- G:0.06CSA WA NA EA 360

    HapMap Linkage Disequilibrium report for TMEM243 (86825478 - 86849903 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for TMEM243: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TMEM243
    DNA2.0 Custom Variant and Variant Library Synthesis for TMEM243

    (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
    3 diseases for TMEM243:    About MalaCards
    major depressive disorder    osteosarcoma    ovarian cancer


    TMEM243 for disorders           About GeneDecksing


    Export disorders for TMEM243 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 TMEM243 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with TMEM243)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (2004)
    2. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    3. MM-TRAG (MGC4175), a novel intracellular mitochondrial protein, is associated with the taxol- and doxorubicin-resistant phenotype in human cancer cell lines. (PubMed id 15556294)1, 9 Duan Z....Seiden M.V. (2004)
    4. Meta-analysis of genome-wide association data of bipo lar disorder and major depressive disorder. (PubMed id 20351715)1 Liu Y....Sullivan P.F. (2010)
    5. Multiple pathways are involved in drug resistance to doxorubicin in an osteosarcoma cell line. (PubMed id 18510171)1 Rajkumar T. and Yamuna M. (2008)
    6. Regional activation of chromosomal arm 7q with and without gene amplification in taxane-selected human ovarian cancer cell lines. (PubMed id 16382445)1 Wang Y.C....Sikic B.I. (2006)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    8. 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. (2002)
    9. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

    (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: 79161 HGNC: 21707 AceView: C7orf23 Ensembl:ENSG00000135185 euGenes: HUgn79161
    ECgene: TMEM243 H-InvDB: TMEM243

    (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 TMEM243 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 TMEM243 gene:
    Search GeneIP for patents involving TMEM243

    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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