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Aliases for TMEM70 Gene

Aliases for TMEM70 Gene

  • Transmembrane Protein 70 2 3 5
  • Transmembrane Protein 70, Mitochondrial 3
  • MC5DN2 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 (Transmembrane Protein 70) is a Protein Coding gene. Diseases associated with TMEM70 include Mitochondrial Complex V Deficiency, Nuclear Type 2 and Mitochondrial Complex V Deficiency.

UniProtKB/Swiss-Prot for TMEM70 Gene

  • Involved in biogenesis of mitochondrial ATP synthase.

No data available for CIViC summary , 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

Enhancers for TMEM70 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G073975 1 ENCODE 25.2 +4.0 4010 2.1 PKNOX1 ATF1 ARNT CREB3L1 ARID4B E2F7 SIN3A DMAP1 ZNF2 ZNF48 TMEM70 UBE2W GC08M073979
GH08G073990 0.9 ENCODE 21.2 +19.3 19342 2.4 HDAC1 ELF3 TBP FOXA2 ZBTB40 RARA ZNF121 FOS RELB ETV6 TMEM70 LY96 GC08M074003
GH08G073970 1.1 ENCODE 13.1 -0.5 -517 3.6 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 TERF1 TMEM70 RPL7 GC08M073941 GC08P073966
GH08G073876 1.1 ENCODE 10.4 -93.7 -93736 3.7 HDGF PKNOX1 ARNT ARID4B SIN3A ZBTB7B YY1 ZNF143 SP3 SP5 ELOC TMEM70 UBE2W ENSG00000258677 RN7SL760P
GH08G073892 0.9 FANTOM5 ENCODE 10.5 -79.4 -79406 0.4 HDAC1 BHLHE40 USF2 RAD51 GATA3 ZNF318 EGR1 NFYB IKZF1 CREB1 ELOC TMEM70 STAU2 ENSG00000253596 GDAP1 UBE2W PIR51756 LINC01617
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMEM70 on UCSC Golden Path with GeneCards custom track

Promoters for TMEM70 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000225938 558 2201 PKNOX1 ATF1 ARNT CREB3L1 ARID4B E2F7 SIN3A DMAP1 ZNF2 ZNF48

Genomic Location for TMEM70 Gene

Chromosome:
8
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

Genes around TMEM70 on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for TMEM70 Gene

  • Ubiquitination at isoforms=2217
  • Modification sites at PhosphoSitePlus

Other Protein References for TMEM70 Gene

No data available for DME Specific Peptides for TMEM70 Gene

Domains & Families 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 :
  • Belongs to the TMEM70 family.
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

Phenotypes for TMEM70 Gene

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

Human Phenotype Ontology for TMEM70 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMEM70 gene
Compartment Confidence
mitochondrion 5
nucleus 5
plasma membrane 2
extracellular 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:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM70: view

Pathways & Interactions for TMEM70 Gene

SuperPathways for TMEM70 Gene

No Data Available

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 and SIGNOR curated interactions for TMEM70 Gene

Drugs & Compounds for TMEM70 Gene

No Compound Related Data Available

Transcripts for TMEM70 Gene

Unigene Clusters for TMEM70 Gene

Transmembrane protein 70:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x8.1).

Protein differential expression in normal tissues from HIPED for TMEM70 Gene

This gene is overexpressed in Bone (6.9) and Tlymphocyte (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TMEM70 Gene



Protein tissue co-expression partners for TMEM70 Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM70 Gene:

TMEM70

SOURCE GeneReport for Unigene cluster for TMEM70 Gene:

Hs.106650

Evidence on tissue expression from TISSUES for TMEM70 Gene

  • Nervous system(2.6)
  • Muscle(2.4)
  • Lung(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM70 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • chin
  • ear
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
Thorax:
  • aorta
  • heart
  • heart valve
  • lung
Abdomen:
  • abdominal wall
  • intestine
  • liver
Pelvis:
  • penis
  • placenta
  • testicle
  • urethra
  • uterus
Limb:
  • digit
  • finger
  • hand
  • upper limb
General:
  • blood vessel
  • skin
genes like me logo Genes that share expression patterns with TMEM70: view

Primer 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 35
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM70 34 35
  • 82.28 (n)
dog
(Canis familiaris)
Mammalia TMEM70 34 35
  • 77.99 (n)
rat
(Rattus norvegicus)
Mammalia Tmem70 34
  • 74.18 (n)
mouse
(Mus musculus)
Mammalia Tmem70 34 16 35
  • 73.91 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM70 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM70 34 35
  • 61.73 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM70 35
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem70 34
  • 62.72 (n)
zebrafish
(Danio rerio)
Actinopterygii tmem70 34 35
  • 58.1 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004903 34
  • 48.47 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7506 34 35
  • 46.6 (n)
Species where no ortholog for TMEM70 was found in the sources mined by GeneCards:
  • 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
VAR_068847 Mitochondrial complex V deficiency, nuclear 2 (MC5DN2) [MIM:614052]
rs183973249 Pathogenic 73,981,153(+) CATTT(A/G)GGTGT splice-acceptor-variant
rs387907070 Pathogenic 73,978,783(+) ATGTT(C/T)GATTC nc-transcript-variant, reference, stop-gained
rs796052056 Pathogenic 73,976,399(+) GGCGT(-/GT)CCTCC nc-transcript-variant, reference, frameshift-variant
rs200820631 Likely pathogenic 73,981,293(+) CTTTA(C/T)GGTGA nc-transcript-variant, reference, missense, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv1009583 OTHER inversion 20482838
esv2737174 CNV deletion 23290073
nsv831355 CNV loss 17160897
nsv971667 CNV duplication 23825009

Variation tolerance for TMEM70 Gene

Residual Variation Intolerance Score: 84.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.48; 82.14% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM70 Gene

Human Gene Mutation Database (HGMD)
TMEM70
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM70

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

Disorders for TMEM70 Gene

MalaCards: The human disease database

(11) MalaCards diseases for TMEM70 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex v deficiency, nuclear type 2
  • mitochondrial complex v deficiency nuclear type 2
mitochondrial complex v deficiency
  • complex 5 mitochondrial respiratory chain deficiency
3-methylglutaconic aciduria
isolated atp synthase deficiency
  • isolated mitochondrial respiratory chain complex v deficiency
3-methylglutaconic aciduria, type iv
  • 3-methylglutaconic aciduria type 4
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for TMEM70

Genetic Association Database (GAD)
TMEM70
Human Genome Epidemiology (HuGE) Navigator
TMEM70
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM70
genes like me logo Genes that share disorders with TMEM70: view

No data available for Genatlas for TMEM70 Gene

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 64
  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 64
  3. Expression and processing of the TMEM70 protein. (PMID: 20937241) Hejzlarova K. … Houstek J. (Biochim. Biophys. Acta 2011) 3 4 64
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64

Products for TMEM70 Gene

Sources for TMEM70 Gene

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