Aliases for TOMM20 Gene

Aliases for TOMM20 Gene

  • Translocase Of Outer Mitochondrial Membrane 20 2 3 5
  • Translocase Of Outer Mitochondrial Membrane 20 Homolog Type II 2 3
  • Mitochondrial Import Receptor Subunit TOM20 Homolog 3 4
  • Mitochondrial 20 KDa Outer Membrane Protein 3 4
  • Outer Mitochondrial Membrane Receptor Tom20 3 4
  • KIAA0016 2 4
  • MAS20 2 3
  • MOM19 2 3
  • TOM20 2 3
  • Translocase Of Outer Mitochondrial Membrane 20 Homolog (Yeast) 2
  • TOMM20 5

External Ids for TOMM20 Gene

Previous GeneCards Identifiers for TOMM20 Gene

  • GC00U913004
  • GC01M232313
  • GC01M231598
  • GC01M233339
  • GC01M235272
  • GC01M205721

Summaries for TOMM20 Gene

GeneCards Summary for TOMM20 Gene

TOMM20 (Translocase Of Outer Mitochondrial Membrane 20) is a Protein Coding gene. Diseases associated with TOMM20 include Optic Atrophy 11 and Optic Atrophy 1. Among its related pathways are Mitochondrial protein import and Deubiquitination. Gene Ontology (GO) annotations related to this gene include unfolded protein binding and P-P-bond-hydrolysis-driven protein transmembrane transporter activity. An important paralog of this gene is TOMM20L.

UniProtKB/Swiss-Prot Summary for TOMM20 Gene

  • Central component of the receptor complex responsible for the recognition and translocation of cytosolically synthesized mitochondrial preproteins. Together with TOM22 functions as the transit peptide receptor at the surface of the mitochondrion outer membrane and facilitates the movement of preproteins into the TOM40 translocation pore (By similarity). Required for the translocation across the mitochondrial outer membrane of cytochrome P450 monooxygenases.

Gene Wiki entry for TOMM20 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TOMM20 Gene

Genomics for TOMM20 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TOMM20 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TOMM20 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TOMM20

Top Transcription factor binding sites by QIAGEN in the TOMM20 gene promoter:
  • AREB6
  • GATA-1
  • HNF-4alpha1
  • HNF-4alpha2
  • NF-kappaB
  • NF-kappaB1
  • Pax-2
  • Pax-2a
  • Pax-2b
  • YY1

Genomic Locations for TOMM20 Gene

Latest Assembly
chr1:235,109,341-235,128,837
(GRCh38/hg38)
Size:
19,497 bases
Orientation:
Minus strand

Previous Assembly
chr1:235,272,656-235,292,152
(GRCh37/hg19 by Entrez Gene)
Size:
19,497 bases
Orientation:
Minus strand

chr1:235,272,651-235,292,251
(GRCh37/hg19 by Ensembl)
Size:
19,601 bases
Orientation:
Minus strand

Genomic View for TOMM20 Gene

Genes around TOMM20 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TOMM20 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TOMM20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TOMM20 Gene

Proteins for TOMM20 Gene

  • Protein details for TOMM20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15388-TOM20_HUMAN
    Recommended name:
    Mitochondrial import receptor subunit TOM20 homolog
    Protein Accession:
    Q15388
    Secondary Accessions:
    • A8K195
    • Q498B3
    • Q6IBT4

    Protein attributes for TOMM20 Gene

    Size:
    145 amino acids
    Molecular mass:
    16298 Da
    Quaternary structure:
    • Forms part of the preprotein translocase complex of the outer mitochondrial membrane (TOM complex) which consists of at least 7 different proteins (TOMM5, TOMM6, TOMM7, TOMM20, TOMM22, TOMM40 and TOMM70). Interacts with TOM22. Interacts with APEX1.

    Three dimensional structures from OCA and Proteopedia for TOMM20 Gene

neXtProt entry for TOMM20 Gene

Post-translational modifications for TOMM20 Gene

  • Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30.
  • Ubiquitination at Lys35, Lys56, Lys61, and Lys68
  • Modification sites at PhosphoSitePlus

Other Protein References for TOMM20 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TOMM20 Gene

Domains & Families for TOMM20 Gene

Protein Domains for TOMM20 Gene

InterPro:
Blocks:
  • MAS20 protein import receptor signature

Suggested Antigen Peptide Sequences for TOMM20 Gene

GenScript: Design optimal peptide antigens:
  • Outer mitochondrial membrane receptor Tom20 (TOM20_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15388

UniProtKB/Swiss-Prot:

TOM20_HUMAN :
  • Belongs to the Tom20 family.
Family:
  • Belongs to the Tom20 family.
genes like me logo Genes that share domains with TOMM20: view

Function for TOMM20 Gene

Molecular function for TOMM20 Gene

UniProtKB/Swiss-Prot Function:
Central component of the receptor complex responsible for the recognition and translocation of cytosolically synthesized mitochondrial preproteins. Together with TOM22 functions as the transit peptide receptor at the surface of the mitochondrion outer membrane and facilitates the movement of preproteins into the TOM40 translocation pore (By similarity). Required for the translocation across the mitochondrial outer membrane of cytochrome P450 monooxygenases.

Phenotypes From GWAS Catalog for TOMM20 Gene

Gene Ontology (GO) - Molecular Function for TOMM20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 14557246
GO:0008320 contributes_to protein transmembrane transporter activity IBA 21873635
GO:0015450 P-P-bond-hydrolysis-driven protein transmembrane transporter activity IDA 14557246
GO:0030943 mitochondrion targeting sequence binding IBA 21873635
GO:0051082 unfolded protein binding IDA 14557246
genes like me logo Genes that share ontologies with TOMM20: view
genes like me logo Genes that share phenotypes with TOMM20: view

miRNA for TOMM20 Gene

miRTarBase miRNAs that target TOMM20

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOMM20

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TOMM20 Gene

Localization for TOMM20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TOMM20 Gene

Mitochondrion outer membrane. Single-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 TOMM20 gene
Compartment Confidence
mitochondrion 5
extracellular 3
cytosol 3
plasma membrane 2
cytoskeleton 2
peroxisome 2
nucleus 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TOMM20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 20628368
GO:0005740 mitochondrial envelope IEA --
GO:0005741 mitochondrial outer membrane TAS --
GO:0005742 mitochondrial outer membrane translocase complex TAS 14557246
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TOMM20: view

Pathways & Interactions for TOMM20 Gene

genes like me logo Genes that share pathways with TOMM20: view

Pathways by source for TOMM20 Gene

2 Cell Signaling Technology pathways for TOMM20 Gene

Gene Ontology (GO) - Biological Process for TOMM20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006605 protein targeting IEA --
GO:0006626 protein targeting to mitochondrion IDA 14557246
GO:0006886 intracellular protein transport IEA --
GO:0014850 response to muscle activity IEA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with TOMM20: view

No data available for SIGNOR curated interactions for TOMM20 Gene

Drugs & Compounds for TOMM20 Gene

(1) Drugs for TOMM20 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for TOMM20 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TOMM20: view

Transcripts for TOMM20 Gene

mRNA/cDNA for TOMM20 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOMM20

Alternative Splicing Database (ASD) splice patterns (SP) for TOMM20 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b
SP1: - - - -
SP2: -
SP3: - -
SP4: - - - - - - -
SP5: - - -
SP6: - - -
SP7: - -

Relevant External Links for TOMM20 Gene

GeneLoc Exon Structure for
TOMM20

Expression for TOMM20 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TOMM20 Gene

Protein differential expression in normal tissues from HIPED for TOMM20 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (14.1), Bone (8.1), and Brain (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TOMM20 Gene



Protein tissue co-expression partners for TOMM20 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TOMM20

SOURCE GeneReport for Unigene cluster for TOMM20 Gene:

Hs.533192

Evidence on tissue expression from TISSUES for TOMM20 Gene

  • Nervous system(5)
  • Pancreas(4.7)
  • Bone marrow(4.7)
  • Liver(4.6)
  • Eye(4.5)
  • Intestine(4)
  • Skin(3.9)
  • Kidney(3.9)
  • Lung(3.6)
  • Adrenal gland(3.6)
  • Thyroid gland(3.6)
  • Stomach(3.6)
  • Spleen(3.5)
  • Lymph node(3.5)
  • Heart(3.3)
  • Gall bladder(3.1)
  • Muscle(3.1)
  • Blood(2.6)
genes like me logo Genes that share expression patterns with TOMM20: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TOMM20 Gene

Orthologs for TOMM20 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TOMM20 Gene

Organism Taxonomy Gene Similarity Type Details
Platypus
(Ornithorhynchus anatinus)
Mammalia TOMM20 30
  • 100 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia TOMM20 29 30
  • 99.54 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TOMM20 29 30
  • 94.94 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TOMM20 29 30
  • 94.25 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tomm20 29 16 30
  • 92.18 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tomm20 29
  • 91.95 (n)
Oppossum
(Monodelphis domestica)
Mammalia TOMM20 30
  • 90 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TOMM20 29 30
  • 85.98 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TOMM20 30
  • 92 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tomm20 29
  • 79.54 (n)
Str.11143 29
African clawed frog
(Xenopus laevis)
Amphibia tomm20-pending-prov 29
Zebrafish
(Danio rerio)
Actinopterygii tomm20b 29 30
  • 74.94 (n)
OneToOne
Dr.15589 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6481 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012339 29
  • 61.07 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Tom20 29 30
  • 58.6 (n)
ManyToMany
tomboy20 30
  • 39 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea tomm-20 29 30
  • 49.17 (n)
OneToMany
Wheat
(Triticum aestivum)
Liliopsida Ta.26866 29
Species where no ortholog for TOMM20 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)

Evolution for TOMM20 Gene

ENSEMBL:
Gene Tree for TOMM20 (if available)
TreeFam:
Gene Tree for TOMM20 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TOMM20: view image
Alliance of Genome Resources:
Additional Orthologs for TOMM20

Paralogs for TOMM20 Gene

Paralogs for TOMM20 Gene

(1) SIMAP similar genes for TOMM20 Gene using alignment to 1 proteins:

  • TOM20_HUMAN
genes like me logo Genes that share paralogs with TOMM20: view

Variants for TOMM20 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TOMM20 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs1049510 -- p.Val134Leu
rs16991984 -- p.Pro117Leu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TOMM20 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TOMM20 Gene

Variant ID Type Subtype PubMed ID
esv275126 CNV loss 21479260
esv3578486 CNV loss 25503493
esv3891237 CNV loss 25118596
nsv474097 CNV novel sequence insertion 20440878
nsv508699 CNV deletion 20534489
nsv945381 CNV duplication 23825009

Variation tolerance for TOMM20 Gene

Residual Variation Intolerance Score: 42.4% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TOMM20 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TOMM20
Leiden Open Variation Database (LOVD)
TOMM20

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TOMM20 Gene

Disorders for TOMM20 Gene

MalaCards: The human disease database

(7) MalaCards diseases for TOMM20 Gene - From: COP

Disorder Aliases PubMed IDs
optic atrophy 11
  • opa11
optic atrophy 1
  • opa1
alzheimer disease 7
  • alzheimer disease, familial, 7
parkinson disease, late-onset
  • pd
optic nerve disease
  • disorder of the second nerve
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TOMM20

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TOMM20: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TOMM20 Gene

Publications for TOMM20 Gene

  1. Gene structure of the human mitochondrial outer membrane receptor Tom20 and evolutionary study of its family of processed pseudogenes. (PMID: 10548729) Hernández JM … Hernández-Yago J (Gene 1999) 3 4 22
  2. A human homolog of the mitochondrial protein import receptor Mom19 can assemble with the yeast mitochondrial receptor complex. (PMID: 7498524) Seki N … Pfanner N (FEBS letters 1995) 2 3 4
  3. Identification of the human mitochondrial protein import receptor, huMas20p. Complementation of delta mas20 in yeast. (PMID: 7589431) Goping IS … Shore GC (FEBS letters 1995) 2 3 4
  4. QIL1 is a novel mitochondrial protein required for MICOS complex stability and cristae morphology. (PMID: 25997101) Guarani V … Harper JW (eLife 2015) 3 4
  5. Identification and characterization of mitochondrial targeting sequence of human apurinic/apyrimidinic endonuclease 1. (PMID: 20231292) Li M … Wang D (The Journal of biological chemistry 2010) 3 4

Products for TOMM20 Gene

Sources for TOMM20 Gene