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

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 Infantile Neuroaxonal Dystrophy 1 and Perry Syndrome. Among its related pathways are Deubiquitination and Mitochondrial protein import. 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 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).

Gene Wiki entry for TOMM20 Gene

Additional gene information for TOMM20 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TOMM20 Gene

Genomics for TOMM20 Gene

Regulatory Elements for TOMM20 Gene

Enhancers for TOMM20 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
GH01H235090 1.4 Ensembl ENCODE dbSUPER 16.9 +38.2 38167 1 HDAC1 PKNOX1 ATF1 ZBTB40 ZNF766 GATA2 SCRT2 SIRT6 ATF7 ZBTB11 TOMM20 ENSG00000228830 IRF2BP2 SNORA14B TARBP1 ENSG00000212144 GGPS1 ENSG00000233018 LINC01348
GH01H234968 1.9 FANTOM5 ENCODE dbSUPER 9.8 +149.9 149925 21 MLX FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC ARID4B GGPS1 RPS21P1 IRF2BP2 LOC102724100 TBCE LOC105373206 LOC101927851 ENSG00000230404 TARBP1
GH01H235103 1.4 FANTOM5 ENCODE 12.2 +24.1 24085 2 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 CBX5 ZNF143 DEK MXD4 REST SNORA14B TOMM20 GC01P235107 ENSG00000273416
GH01H234486 1.4 Ensembl ENCODE dbSUPER 10 +641.6 641580 0 ELF3 TBP ATF1 MLX NFIB ARNT ARID4B ZNF2 RAD21 RFX5 ENSG00000212144 SNORA14B TOMM20 TARBP1 GC01P234531
GH01H235092 1.2 Ensembl ENCODE 11.5 +35.3 35337 1 HDAC1 ELF3 HDGF RB1 TBL1XR1 ZFP64 RAD21 ZNF143 ATF7 RUNX3 IRF2BP2 ARID4B ENSG00000228830 SNORA14B TOMM20 TARBP1 ENSG00000212144 RPS21P1 ENSG00000233018 LINC01348
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TOMM20 on UCSC Golden Path with GeneCards custom track

Promoters for TOMM20 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000022223 741 2401 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for TOMM20 Gene

Chromosome:
1
Start:
235,109,336 bp from pter
End:
235,128,941 bp from pter
Size:
19,606 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, posLast=6161, and posLast=6868
  • Modification sites at PhosphoSitePlus

Other Protein References for TOMM20 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TOMM20 (TOM20)

No data available for DME Specific Peptides for TOMM20 Gene

Domains & Families for TOMM20 Gene

Gene Families for TOMM20 Gene

Protein Domains for TOMM20 Gene

Suggested Antigen Peptide Sequences for TOMM20 Gene

GenScript: Design optimal peptide antigens:

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).

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:0015266 contributes_to protein channel activity IBA --
GO:0015450 P-P-bond-hydrolysis-driven protein transmembrane transporter activity IDA 14557246
GO:0030943 mitochondrion targeting sequence binding IBA --
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

Animal Model Products

CRISPR Products

miRNA for TOMM20 Gene

miRTarBase miRNAs that target TOMM20

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TOMM20
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
extracellular 5
mitochondrion 5
cytosol 2
plasma membrane 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

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 25327288
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:0006810 transport IEA --
GO:0006886 intracellular protein transport 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

Unigene Clusters for TOMM20 Gene

Translocase of outer mitochondrial membrane 20 homolog (yeast):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TOMM20
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
TOMM20

Expression for TOMM20 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for TOMM20 Gene



Protein tissue co-expression partners for TOMM20 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TOMM20 Gene:

TOMM20

SOURCE GeneReport for Unigene cluster for TOMM20 Gene:

Hs.533192

Evidence on tissue expression from TISSUES for TOMM20 Gene

  • Nervous system(5)
  • Bone marrow(4.6)
  • Pancreas(4.6)
  • Liver(4.5)
  • Eye(4.4)
  • Intestine(3.6)
  • Kidney(3.4)
  • Thyroid gland(3.4)
  • Adrenal gland(3.1)
  • Gall bladder(3.1)
  • Lung(3.1)
  • Lymph node(3.1)
  • Skin(3.1)
  • Spleen(3.1)
  • Stomach(3.1)
  • Heart(2.6)
  • Muscle(2.4)
genes like me logo Genes that share expression patterns with TOMM20: view

Primer Products

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 34
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TOMM20 33 34
  • 99.54 (n)
cow
(Bos Taurus)
Mammalia TOMM20 33 34
  • 94.94 (n)
dog
(Canis familiaris)
Mammalia TOMM20 33 34
  • 94.25 (n)
mouse
(Mus musculus)
Mammalia Tomm20 33 16 34
  • 92.18 (n)
rat
(Rattus norvegicus)
Mammalia Tomm20 33
  • 91.95 (n)
oppossum
(Monodelphis domestica)
Mammalia TOMM20 34
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves TOMM20 33 34
  • 85.98 (n)
lizard
(Anolis carolinensis)
Reptilia TOMM20 34
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tomm20 33
  • 79.54 (n)
Str.11143 33
African clawed frog
(Xenopus laevis)
Amphibia tomm20-pending-prov 33
zebrafish
(Danio rerio)
Actinopterygii tomm20b 33 34
  • 74.94 (n)
Dr.15589 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6481 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012339 33
  • 61.07 (n)
fruit fly
(Drosophila melanogaster)
Insecta Tom20 33 34
  • 58.6 (n)
tomboy20 34
  • 39 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea tomm-20 33 34
  • 49.17 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.26866 33
Species where no ortholog for TOMM20 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Evolution for TOMM20 Gene

ENSEMBL:
Gene Tree for TOMM20 (if available)
TreeFam:
Gene Tree for TOMM20 (if available)

Paralogs for TOMM20 Gene

Paralogs for TOMM20 Gene

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

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

Variants for TOMM20 Gene

Sequence variations from dbSNP and Humsavar for TOMM20 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000069858 -- 235,114,263(+) GGACT(A/G)GGGTA intron-variant
rs1000313535 -- 235,129,271(+) TTATG(A/G)TAACT upstream-variant-2KB
rs1000563106 -- 235,117,968(+) TGATA(A/C)CCATC intron-variant
rs1000618978 -- 235,123,434(+) GAGCA(C/G)AGACT intron-variant
rs1000625408 -- 235,112,264(+) ACAGT(C/T)GGCAT intron-variant

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)

Relevant External Links for TOMM20 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TOMM20

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

Disorders for TOMM20 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TOMM20 Gene - From: DISEASES

Disorder Aliases PubMed IDs
infantile neuroaxonal dystrophy 1
  • neurodegeneration with brain iron accumulation 2b
perry syndrome
  • parkinsonism with alveolar hypoventilation and mental depression
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TOMM20

Genetic Association Database (GAD)
TOMM20
Human Genome Epidemiology (HuGE) Navigator
TOMM20
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TOMM20
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 60
  2. 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 60
  3. 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 60
  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 60
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60

Products for TOMM20 Gene

Sources for TOMM20 Gene

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