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

TMEM70 Gene

protein-coding   GIFtS: 53
GCID: GC08P074888

Transmembrane Protein 70

  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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Transmembrane Protein 701 2
MC5DN22
Transmembrane Protein 70, Mitochondrial2

External Ids:    HGNC: 260501   Entrez Gene: 549682   Ensembl: ENSG000001756067   OMIM: 6124185   UniProtKB: Q9BUB73   
ORGUL members:         
NONCODE14:n409175      

Export aliases for TMEM70 gene to outside databases

Previous GC identifers: GC08P075051 GC08P070379


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

Entrez Gene summary for TMEM70 Gene:
This gene likely encodes a mitochondrial membrane protein. The encoded protein may play a role in biogenesis of
mitochondrial ATP synthase. Mutations in this gene have been associated with neonatal mitochondrial
encephalocardiomyopathy due to ATP synthase deficiency. Alternatively spliced transcript variants have been
described. (provided by RefSeq, Feb 2010)

GeneCards Summary for TMEM70 Gene: 
TMEM70 (transmembrane protein 70) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with TMEM70 include mitochondrial complex v deficiency, nuclear type 2, and mitochondrial complex v deficiency. GO annotations related to this gene include molecular_function.

UniProtKB/Swiss-Prot: TMM70_HUMAN, Q9BUB7
Function: Involved in biogenesis of mitochondrial ATP synthase




(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_000008.10  NC_018919.2  NT_008183.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TMEM70 gene promoter:
         TBP   AML1a   AP-1   ATF-2   IRF-1   GATA-1   MZF-1   c-Jun   Msx-1   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMEM70 promoter sequence
   Search SABiosciences Chromatin IP Primers for TMEM70

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMEM70


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

Entrez Gene cytogenetic band: 8q21.11   Ensembl cytogenetic band:  8q21.11   HGNC cytogenetic band: 8q21.11

TMEM70 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM70 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P074888:  view genomic region     (about GC identifiers)

Start:
74,884,672 bp from pter      End:
74,895,018 bp from pter
Size:
10,347 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: TMM70_HUMAN, Q9BUB7 (See protein sequence)
Recommended Name: Transmembrane protein 70, mitochondrial precursor  
Size: 260 amino acids; 28969 Da
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein
Secondary accessions: Q9NWY5
Alternative splicing: 2 isoforms:  Q9BUB7-1   Q9BUB7-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TMEM70: NX_Q9BUB7

Explore proteomics data for TMEM70 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BUB7

  • TMEM70 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TMEM70 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001035703.1  NP_060336.3  

    ENSEMBL proteins: 
     ENSP00000407695   ENSP00000429467   ENSP00000312599  

    Human Recombinant Protein Products for TMEM70: 
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    Novus Biologicals TMEM70 Protein
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TMEM70 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane IEA--
    GO:0032592integral to mitochondrial membrane IDA18953340

    TMEM70 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:
     IPR009724 DUF1301_TMEM70

    Graphical View of Domain Structure for InterPro Entry Q9BUB7

    ProtoNet protein and cluster: Q9BUB7

    UniProtKB/Swiss-Prot: TMM70_HUMAN, Q9BUB7
    Similarity: Belongs to the TMEM70 family


    TMEM70 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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TMM70_HUMAN, Q9BUB7
    Function: Involved in biogenesis of mitochondrial ATP synthase

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    TMEM70 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TMEM70 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TMEM70 
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    miRNA
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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate TMEM70:
    hsa-miR-875-3p hsa-miR-607 hsa-miR-578 hsa-miR-551b* hsa-miR-1305 hsa-miR-590-3p hsa-miR-378* hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidTMEM70 3' UTR sequence
    Inhib. RNA
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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 TMEM70

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for TMEM70 (Q9BUB72, 3 ENSP000003125994) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PHC2Q8IXK02, 3, ENSP000002571184MINT-65031 I2D: score=4 STRING: ENSP00000257118
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0033615mitochondrial proton-transporting ATP synthase complex assembly IMP18953340

    TMEM70 for ontologies           About GeneDecksing



    (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 TMEM70 (TMM70)

    Search CenterWatch for drugs/clinical trials and news about TMEM70 / TMM70

    (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 TMEM70 gene (2 alternative transcripts): 
    NM_001040613.2  NM_017866.5  

    Unigene Cluster for TMEM70:

    Transmembrane protein 70
    Hs.106650  [show with all ESTs]
    Unigene Representative Sequence: NR_033334
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000520167 ENST00000523794 ENST00000416961 ENST00000517439 ENST00000312184(uc022awa.1 uc003yac.3 uc003yab.3)
    ENST00000517614 ENST00000519551
    miRNA
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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate TMEM70:
    hsa-miR-875-3p hsa-miR-607 hsa-miR-578 hsa-miR-551b* hsa-miR-1305 hsa-miR-590-3p hsa-miR-378* hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidTMEM70 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TMEM70
    Clone
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    OriGene clones in human, mouse for TMEM70 (see all 13)
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    GenScript: all cDNA clones in your preferred vector (see all 2): TMEM70 (NM_017866)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMEM70
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM70
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMEM70
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMEM70

    Additional mRNA sequence: 

    AK000540.1 AK225531.1 AK225536.1 BC002748.2 NR_033334.1 

    7 DOTS entries:

    DT.456197  DT.99942340  DT.100035879  DT.91840410  DT.92057247  DT.95269396  DT.100819704 

    24/105 AceView cDNA sequences (see all 105):

    AA290639 AI276098 CD678202 CD369236 BM762854 CD369312 CD677114 BC002748 
    BU542365 AA975695 AA570688 BQ061477 CD370329 AI209029 NM_017866 BX283954 
    AI082789 CD365810 BX400191 BE702650 W72297 BM844922 BM710393 BM845435 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for TMEM70    About this scheme

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


    ECgene alternative splicing isoforms for TMEM70

    (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

    TMEM70 expression in normal human tissues (normalized intensities)      TMEM70 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATTTACCAC
    TMEM70 Expression
    About this image


    TMEM70 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
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ/urethra of male   
     
     Thymus (Hematopoietic System)
             Thymus
     
     Gut Tube (Gastrointestinal Tract)
             Foregut

     -- (Gastrointestinal Tract)
             visceral organ/oral region/gland   

    See TMEM70 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TMEM70

    SOURCE GeneReport for Unigene cluster: Hs.106650
        SABiosciences Custom PCR Arrays for TMEM70
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM70

    (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 animals.

    Orthologs for TMEM70 gene from 5/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmem701 , 5 transmembrane protein 701, 5 73.91(n)1
    61.66(a)1
      1 (5.10 cM)5
    703971  NM_027415.21  NP_081691.21 
     166652075 
    chicken
    (Gallus gallus)
    Aves TMEM701 transmembrane protein 70 63.07(n)
    58.52(a)
      420188  NM_001012848.1  NP_001012866.1 
    lizard
    (Anolis carolinensis)
    Reptilia TMEM706
    transmembrane protein 70
    46(a)
    1 ↔ 1
    4(33817940-33821477)
    zebrafish
    (Danio rerio)
    Actinopterygii tmem706
    transmembrane protein 70
    37(a)
    1 ↔ 1
    2(29964809-29967179)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG75066
    --
    28(a)
    1 ↔ 1
    3L(7633898-7634748)


    ENSEMBL Gene Tree for TMEM70 (if available)
    TreeFam Gene Tree for TMEM70 (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

    10/225 SNPs in TMEM70 are shown (see all 225)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0688474
    Mitochondrial complex V deficiency, nuclear 2 (MC5DN2)4--see VAR_0688472 T P mis40--------
    rs2008933221,2
    C--74889424(+) TTTTT-/TGGAGG 3 -- int10--------
    rs1124726171,2
    C,F--74890600(+) TACAGA/GCATGA 3 -- int11Minor allele frequency- G:0.00CSA 1
    rs1139916931,2
    C,F--74890716(+) GGTCAG/AGAGTT 3 -- int11Minor allele frequency- A:0.50CSA 2
    rs771164221,2
    C,F--74894467(+) GTGTGT/GGCTGA 3 -- ut31 nc-transcript-variant2Minor allele frequency- G:0.03CSA NA 122
    rs1872782101,2
    C--74985637(+) CTCAAA/GACCAG 3 -- us2k10--------
    rs1921177551,2
    --74985665(+) AACCCC/TGTATC 3 -- us2k10--------
    rs1836271791,2
    --74985906(+) GTGGGC/TGGATA 3 -- us2k10--------
    rs44346141,2
    C,F--74985951(+) TATATG/AGTGAA 3 -- us2k16Minor allele frequency- A:0.20WA CSA NA EA 363
    rs101137911,2
    C,F,A,H--74986312(+) gtagaG/Cacagg 3 -- us2k14Minor allele frequency- C:0.17WA NA CSA 125

    HapMap Linkage Disequilibrium report for TMEM70 (74884672 - 74895018 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for TMEM70:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2737174CNV Deletion23290073
    nsv831355CNV Loss17160897
    nsv891013CNV Gain21882294
    esv1009583OTHER Inversion20482838


    Human Gene Mutation Database (HGMD): TMEM70
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TMEM70
    DNA2.0 Custom Variant and Variant Library Synthesis for TMEM70

    (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
    OMIM gene information: 612418   
    OMIM disorders: 604273  
    UniProtKB/Swiss-Prot: TMM70_HUMAN, Q9BUB7
  • Mitochondrial complex V deficiency, nuclear 2 (MC5DN2) [MIM:614052]: A mitochondrial disorder with
    heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth
    retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and
    cerebrospinal fluid. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 10 diseases for TMEM70:    About MalaCards
    mitochondrial complex v deficiency, nuclear type 2    mitochondrial complex v deficiency    mitochondrial complex v deficiency, nuclear type 1    hypotonia
    mitochondrial disorders    lactic acidosis    hypertrophic cardiomyopathy    myopathy
    hepatitis b    hepatitis

    2 diseases from the University of Copenhagen DISEASES database for TMEM70:
    Lactic acidosis     Hypertrophic cardiomyopathy

    TMEM70 for disorders           About GeneDecksing

    Genetic Association Database (GAD): TMEM70
    Human Genome Epidemiology (HuGE) Navigator: TMEM70 (6 documents)

    Export disorders for TMEM70 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 TMEM70 gene, integrated from 9 sources (see all 26):
    (articles sorted by number of sources associating them with TMEM70)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis. (PubMed id 22986587)1, 2, 3 Torraco A.... Carrozzo R. (2012)
    2. Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology. (PubMed id 21945727)1, 3 Jonckheere A.I....Rodenburg R.J. (2011)
    3. Expression and processing of the TMEM70 protein. (PubMed id 20937241)1, 2 Hejzlarova K.... Houstek J. (2011)
    4. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    6. TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. (PubMed id 18953340)1, 2 Cizkova A....Kmoch S. (2008)
    7. 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)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. Compensatory upregulation of respiratory chain complex es III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation. (PubMed id 22433607)1 Havlickova Karbanova V....Houstek J. (2012)
    10. TMEM70 mutations are a common cause of nuclear encode d ATP synthase assembly defect: further delineation of a new syndrome. (PubMed id 21147908)1 Spiegel R....Yatsiv I. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 54968 HGNC: 26050 AceView: FLJ20533 Ensembl:ENSG00000175606 euGenes: HUgn54968
    ECgene: TMEM70 H-InvDB: TMEM70

    (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 TMEM70 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 TMEM70 gene:
    Search GeneIP for patents involving TMEM70

    GeneCards and IP:
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