Human Gene TMEM70 (uc003yab.3) Description and Page Index
  Description: Homo sapiens transmembrane protein 70 (TMEM70), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.
RefSeq Summary (NM_017866): 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].
Transcript (Including UTRs)
   Position: hg19 chr8:74,888,377-74,895,018 Size: 6,642 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr8:74,888,517-74,893,856 Size: 5,340 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr8:74,888,377-74,895,018)mRNA (may differ from genome)Protein (260 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Transmembrane protein 70, mitochondrial; Flags: Precursor;
FUNCTION: Involved in biogenesis of mitochondrial ATP synthase.
SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein.
DISEASE: Defects in TMEM70 are a cause of mitochondrial complex V deficiency nuclear type 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.
SIMILARITY: Belongs to the TMEM70 family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): TMEM70
CDC HuGE Published Literature: TMEM70

-  MalaCards Disease Associations
  MalaCards Gene Search: TMEM70
Diseases sorted by gene-association score: mitochondrial complex v deficiency, nuclear type 2* (1650), mitochondrial complex v deficiency (13), 3-methylglutaconic aciduria, type iv (13), 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome (10), 3-methylglutaconic aciduria (9), 3-methylglutaconic aciduria, type v (8), isolated atp synthase deficiency (7), 3-methylglutaconic aciduria, type iii (6), organic acidemia (5), cardiomyopathy, familial hypertrophic (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 25.07 RPKM in Muscle - Skeletal
Total median expression: 409.54 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -65.70140-0.469 Picture PostScript Text
3' UTR -309.461162-0.266 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009724 - DUF1301_TMEM70

Pfam Domains:
PF06979 - Assembly, mitochondrial proton-transport ATP synth complex

ModBase Predicted Comparative 3D Structure on Q9BUB7
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
  Protein SequenceProtein Sequence  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function

Biological Process:
GO:0033615 mitochondrial proton-transporting ATP synthase complex assembly

Cellular Component:
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0032592 integral component of mitochondrial membrane

-  Descriptions from all associated GenBank mRNAs
  BC002748 - Homo sapiens transmembrane protein 70, mRNA (cDNA clone MGC:3448 IMAGE:3631570), complete cds.
KJ899041 - Synthetic construct Homo sapiens clone ccsbBroadEn_08435 TMEM70 gene, encodes complete protein.
JD282266 - Sequence 263290 from Patent EP1572962.
JD476127 - Sequence 457151 from Patent EP1572962.
AK000540 - Homo sapiens cDNA FLJ20533 fis, clone KAT10931.
AK225531 - Homo sapiens mRNA for hypothetical protein LOC54968 variant, clone: KAT09646.
AK225536 - Homo sapiens mRNA for hypothetical protein LOC54968 variant, clone: KAT10931.
JD506839 - Sequence 487863 from Patent EP1572962.
JD133937 - Sequence 114961 from Patent EP1572962.
JD324299 - Sequence 305323 from Patent EP1572962.
JD154513 - Sequence 135537 from Patent EP1572962.
JD046076 - Sequence 27100 from Patent EP1572962.
JD344588 - Sequence 325612 from Patent EP1572962.
JD346234 - Sequence 327258 from Patent EP1572962.
JD298535 - Sequence 279559 from Patent EP1572962.
JD290678 - Sequence 271702 from Patent EP1572962.
JD533936 - Sequence 514960 from Patent EP1572962.
JD095760 - Sequence 76784 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: NM_017866, NP_060336, Q9BUB7, Q9NWY5, TMM70_HUMAN
UCSC ID: uc003yab.3
RefSeq Accession: NM_017866
Protein: Q9BUB7 (aka TMM70_HUMAN)
CCDS: CCDS6215.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_017866.5
exon count: 3CDS single in 3' UTR: no RNA size: 2096
ORF size: 783CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1672.00frame shift in genome: no % Coverage: 99.48
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.