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Aliases for TMEM70 Gene

Aliases for TMEM70 Gene

  • Transmembrane Protein 70 2 3
  • MC5DN2 3 6
  • Transmembrane Protein 70, Mitochondrial 3

External Ids for TMEM70 Gene

Previous GeneCards Identifiers for TMEM70 Gene

  • GC08P075051
  • GC08P074888
  • GC08P070379

Summaries for TMEM70 Gene

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 is a Protein Coding gene. Diseases associated with TMEM70 include mitochondrial complex v deficiency, nuclear type 2 and mitochondrial encephalo-cardio-myopathy due to tmem70 deficiency.

UniProtKB/Swiss-Prot for TMEM70 Gene

  • Involved in biogenesis of mitochondrial ATP synthase.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM70 Gene

Genomics for TMEM70 Gene

Regulatory Elements for TMEM70 Gene

Genomic Location for TMEM70 Gene

Start:
73,972,437 bp from pter
End:
73,982,783 bp from pter
Size:
10,347 bases
Orientation:
Plus strand

Genomic View for TMEM70 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TMEM70 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM70 Gene

Proteins for TMEM70 Gene

  • Protein details for TMEM70 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BUB7-TMM70_HUMAN
    Recommended name:
    Transmembrane protein 70, mitochondrial
    Protein Accession:
    Q9BUB7
    Secondary Accessions:
    • E9PDY9
    • Q9NWY5

    Protein attributes for TMEM70 Gene

    Size:
    260 amino acids
    Molecular mass:
    28969 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TMEM70 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM70 Gene

Proteomics data for TMEM70 Gene at MOPED

Post-translational modifications for TMEM70 Gene

  • Ubiquitination at Lys217
  • Modification sites at PhosphoSitePlus

Other Protein References for TMEM70 Gene

Antibody Products

No data available for DME Specific Peptides for TMEM70 Gene

Domains for TMEM70 Gene

Protein Domains for TMEM70 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM70 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BUB7

UniProtKB/Swiss-Prot:

TMM70_HUMAN :
  • Q9BUB7
Family:
  • Belongs to the TMEM70 family.
genes like me logo Genes that share domains with TMEM70: view

No data available for Gene Families for TMEM70 Gene

Function for TMEM70 Gene

Molecular function for TMEM70 Gene

UniProtKB/Swiss-Prot Function: Involved in biogenesis of mitochondrial ATP synthase.

Gene Ontology (GO) - Molecular Function for TMEM70 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with TMEM70: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for TMEM70 Gene

Localization for TMEM70 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM70 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMEM70 Gene COMPARTMENTS Subcellular localization image for TMEM70 gene
Compartment Confidence
mitochondrion 5
plasma membrane 2
extracellular 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TMEM70 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0032592 integral component of mitochondrial membrane IDA 18953340
genes like me logo Genes that share ontologies with TMEM70: view

Pathways for TMEM70 Gene

SuperPathways for TMEM70 Gene

No Data Available

Interacting Proteins for TMEM70 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000312599%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000251849%0d%0a9606.ENSP00000354762%0d%0a
Selected Interacting proteins: Q9BUB7-TMM70_HUMAN ENSP00000312599 for TMEM70 Gene via MINT STRING I2D

Gene Ontology (GO) - Biological Process for TMEM70 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0033615 mitochondrial proton-transporting ATP synthase complex assembly IMP 18953340
genes like me logo Genes that share ontologies with TMEM70: view

No data available for Pathways by source for TMEM70 Gene

Transcripts for TMEM70 Gene

Unigene Clusters for TMEM70 Gene

Transmembrane protein 70:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TMEM70

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM70 Gene

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

Relevant External Links for TMEM70 Gene

GeneLoc Exon Structure for
TMEM70
ECgene alternative splicing isoforms for
TMEM70

Expression for TMEM70 Gene

mRNA expression in normal human tissues for TMEM70 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TMEM70 Gene

This gene is overexpressed in Muscle - Skeletal (8.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TMEM70 Gene

SOURCE GeneReport for Unigene cluster for TMEM70 Gene Hs.106650

genes like me logo Genes that share expressions with TMEM70: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for TMEM70 Gene

Orthologs for TMEM70 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMEM70 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM70 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM70 35
  • 82.28 (n)
  • 73.62 (a)
TMEM70 36
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM70 35
  • 77.99 (n)
  • 67.58 (a)
TMEM70 36
  • 68 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem70 35
  • 73.91 (n)
  • 61.66 (a)
Tmem70 16
Tmem70 36
  • 61 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMEM70 36
  • 55 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem70 35
  • 74.18 (n)
  • 60.87 (a)
chicken
(Gallus gallus)
Aves TMEM70 35
  • 61.73 (n)
  • 56.12 (a)
TMEM70 36
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM70 36
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem70 35
  • 62.72 (n)
  • 56.8 (a)
zebrafish
(Danio rerio)
Actinopterygii tmem70 35
  • 58.1 (n)
  • 52 (a)
tmem70 36
  • 37 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004903 35
  • 48.47 (n)
  • 35.58 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7506 35
  • 46.6 (n)
  • 36.65 (a)
CG7506 36
  • 29 (a)
OneToOne
Species with no ortholog for TMEM70:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TMEM70 Gene

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

Paralogs for TMEM70 Gene

No data available for Paralogs for TMEM70 Gene

Variants for TMEM70 Gene

Sequence variations from dbSNP and Humsavar for TMEM70 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs7108 -- 73,981,645(-) CATTT(A/G)AGCAC utr-variant-3-prime, nc-transcript-variant
rs8075 Likely benign, - 73,976,381(-) AGAGG(C/G)CCGGG missense, reference, nc-transcript-variant
rs975915 -- 73,976,658(-) GACCC(C/G)GGGGC intron-variant
rs1053054 -- 73,981,790(-) GGTTT(C/T)CAAAC utr-variant-3-prime, nc-transcript-variant
rs1053077 Likely benign, - 73,981,615(-) CATTT(C/G)TCATC utr-variant-3-prime, reference, missense, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM70 Gene

Variant ID Type Subtype PubMed ID
nsv831355 CNV Loss 17160897
esv1009583 OTHER Inversion 20482838
nsv891013 CNV Gain 21882294
esv2737174 CNV Deletion 23290073

Relevant External Links for TMEM70 Gene

HapMap Linkage Disequilibrium report
TMEM70
Human Gene Mutation Database (HGMD)
TMEM70

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM70 Gene

Disorders for TMEM70 Gene

(1) OMIM Diseases for TMEM70 Gene (612418)

UniProtKB/Swiss-Prot

TMM70_HUMAN
  • 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. {ECO:0000269 PubMed:18953340, ECO:0000269 PubMed:22986587}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for TMEM70 Gene

Relevant External Links for TMEM70

Genetic Association Database (GAD)
TMEM70
Human Genome Epidemiology (HuGE) Navigator
TMEM70
genes like me logo Genes that share disorders with TMEM70: view

Publications for TMEM70 Gene

  1. TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis. (PMID: 22986587) Torraco A. … Carrozzo R. (Neurogenetics 2012) 2 3 4
  2. Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology. (PMID: 21945727) Jonckheere A.I. … Rodenburg R.J. (Mitochondrion 2011) 2 3
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. (PMID: 18953340) Cizkova A. … Kmoch S. (Nat. Genet. 2008) 3 4

Products for TMEM70 Gene

  • antibodies-online peptides for TMEM70
  • antibodies-online antibodies for TMEM70
  • antibodies-online kits for TMEM70

Sources for TMEM70 Gene

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