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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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for TMEM243
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: TM243_HUMAN, Q9BU79 (See protein sequence)
Recommended Name: Transmembrane protein 243  
Size: 118 amino acids; 13391 Da
Secondary accessions: A4D1C6 B2R9I4 D6W5P1

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

Explore proteomics data for TMEM243 at MOPED


See TMEM243 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_077291.1  
ENSEMBL proteins: 
 ENSP00000257637   ENSP00000398083   ENSP00000407976   ENSP00000401897  

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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:
 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,
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:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TMEM243
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TMEM243

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TMEM243
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miRNA
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miRTarBase miRNAs that target TMEM243:
hsa-mir-484 (MIRT041901)

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SwitchGear 3'UTR luciferase reporter plasmidTMEM243 3' UTR sequence
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Predesigned siRNA for gene silencing in human, mouse, rat TMEM243

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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

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM243


(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
TM243_HUMAN, Q9BU79: Membrane; Multi-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--

TMEM243 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 TMEM243
Interactions:

    Search GeneGlobe Interaction Network for TMEM243

(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 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,
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 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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Inhib. RNA
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Predesigned siRNA for gene silencing in human, mouse, rat TMEM243
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM243
Primer
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OriGene qPCR primer pairs and template standards for TMEM243
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  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 

Selected AceView cDNA sequences (see all 147):

BU624770 CA442746 AI885728 BX116747 BM454372 BM913476 BU632508 AA742186 
AI372996 AU119274 AI002435 BM989328 AI245865 AW027860 BG926014 BC002837 
CB120168 BG823256 AA721353 CD364537 AA811275 BU784440 BX377970 AI290487 

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™, 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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TMEM243 expression in normal human tissues (normalized intensities)
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
 selected tissues (see all 5) fully expand
 
 Neurons
         nGnG Amacrine Cells Inner Nuclear Layer
 
 Eye (Sensory Organs)
         nGnG Amacrine Cells Inner Nuclear Layer
 
 Lung (Respiratory System)
 
 Thyroid (Endocrine System)
 
 Dermis (Integumentary System)
TMEM243 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

TMEM243 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.619593
    Custom PCR Arrays for TMEM243
Primer
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OriGene qPCR primer pairs and template standards for TMEM243
OriGene qSTAR qPCR primer pairs in human, mouse for TMEM243
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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)
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This gene was present in the common ancestor of chordates.

Orthologs for TMEM243 gene from Selected species (see all 14)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Tmem2431 , 5 RIKEN cDNA 4930420K17 gene5
transmembrane protein 243, mitochondrial1
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 C7ORF231 chromosome 1 open reading frame, human C7orf23 82.44(n)
81.72(a)
  418647  XM_416845.4  XP_416845.4 
lizard
(Anolis carolinensis)
Reptilia TMEM2436
transmembrane protein 243, mitochondrial
80(a)
1 ↔ 1
GL343559.1(336603-364922)
African clawed frog
(Xenopus laevis)
Amphibia BX854999.12   -- 77.39(n)    BX854999.1 
zebrafish
(Danio rerio)
Actinopterygii tmem243b1 transmembrane protein 243, mitochondrial b 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)
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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 TMEM243 (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: --
Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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4 diseases for TMEM243:    
About MalaCards
major depressive disorder    osteosarcoma    bipolar disorder    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)
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PubMed articles for TMEM243 gene integrated from 10 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. (Genome Res. 2004)
  2. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 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. (Gene 2004)
  4. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
  5. Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder. (PubMed id 20351715)1 Liu Y....Sullivan P.F. (Mol. Psychiatry 2011)
  6. Multiple pathways are involved in drug resistance to doxorubicin in an osteosarcoma cell line. (PubMed id 18510171)1 Rajkumar T. and Yamuna M. (Anticancer Drugs 2008)
  7. 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. (amp 2006)
  8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
  9. 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)
  10. (PubMed id )2 

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

(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 TMEM243 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 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, 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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