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Aliases for TOMM40 Gene

Aliases for TOMM40 Gene

  • Translocase Of Outer Mitochondrial Membrane 40 Homolog (Yeast) 2 3
  • Translocase Of Outer Membrane 40 KDa Subunit Homolog 3 4
  • Protein Haymaker 3 4
  • C19orf1 3 4
  • PEREC1 3 4
  • TOM40 3 4
  • P38.5 3 4
  • Mitochondrial Outer Membrane Protein 3
  • D19S1177E 3
  • PER-EC1 3

External Ids for TOMM40 Gene

Previous GeneCards Identifiers for TOMM40 Gene

  • GC19P046039
  • GC19P045785
  • GC19P050070
  • GC19P050086
  • GC19P045394
  • GC19P041824

Summaries for TOMM40 Gene

Entrez Gene Summary for TOMM40 Gene

  • The protein encoded by this gene is localized in the outer membrane of the mitochondria. It is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for import of protein precursors into mitochondria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]

GeneCards Summary for TOMM40 Gene

TOMM40 (Translocase Of Outer Mitochondrial Membrane 40 Homolog (Yeast)) is a Protein Coding gene. Diseases associated with TOMM40 include wolfram syndrome 2 and charcot-marie-tooth neuropathy type 2a. Among its related pathways are Transport to the Golgi and subsequent modification and Mitochondrial protein import. GO annotations related to this gene include porin activity and protein transmembrane transporter activity. An important paralog of this gene is TOMM40L.

UniProtKB/Swiss-Prot for TOMM40 Gene

  • Channel-forming protein essential for import of protein precursors into mitochondria.

Gene Wiki entry for TOMM40 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TOMM40 Gene

Genomics for TOMM40 Gene

Regulatory Elements for TOMM40 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TOMM40 Gene

44,890,569 bp from pter
44,903,689 bp from pter
13,121 bases
Plus strand

Genomic View for TOMM40 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TOMM40 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TOMM40 Gene

Proteins for TOMM40 Gene

  • Protein details for TOMM40 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Mitochondrial import receptor subunit TOM40 homolog
    Protein Accession:
    Secondary Accessions:
    • Q86VW4
    • Q8WY09
    • Q8WY10
    • Q8WY11
    • Q9BR95

    Protein attributes for TOMM40 Gene

    361 amino acids
    Molecular mass:
    37893 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 mitochondrial targeting sequences.

    Alternative splice isoforms for TOMM40 Gene


neXtProt entry for TOMM40 Gene

Proteomics data for TOMM40 Gene at MOPED

Post-translational modifications for TOMM40 Gene

  • Ubiquitination at Lys 184
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for TOMM40 Gene

Domains & Families for TOMM40 Gene

Protein Domains for TOMM40 Gene


Suggested Antigen Peptide Sequences for TOMM40 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the Tom40 family.
  • Belongs to the Tom40 family.
genes like me logo Genes that share domains with TOMM40: view

No data available for Gene Families for TOMM40 Gene

Function for TOMM40 Gene

Molecular function for TOMM40 Gene

UniProtKB/Swiss-Prot Function:
Channel-forming protein essential for import of protein precursors into mitochondria.

Gene Ontology (GO) - Molecular Function for TOMM40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008320 protein transmembrane transporter activity TAS 15644312
GO:0015266 protein channel activity IBA --
GO:0015288 porin activity IEA --
genes like me logo Genes that share ontologies with TOMM40: view
genes like me logo Genes that share phenotypes with TOMM40: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TOMM40 Gene

Localization for TOMM40 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TOMM40 Gene

Mitochondrion outer membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for TOMM40 Gene COMPARTMENTS Subcellular localization image for TOMM40 gene
Compartment Confidence
extracellular 5
mitochondrion 4
nucleus 4
cytosol 3
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for TOMM40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005739 NOT mitochondrion IMP 11745481
GO:0005741 mitochondrial outer membrane TAS --
GO:0005742 mitochondrial outer membrane translocase complex IDA 12198123
genes like me logo Genes that share ontologies with TOMM40: view

Pathways & Interactions for TOMM40 Gene

genes like me logo Genes that share pathways with TOMM40: view

Pathways by source for TOMM40 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for TOMM40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000423 macromitophagy TAS --
GO:0006626 protein targeting to mitochondrion TAS --
GO:0006811 ion transport IEA --
GO:0016236 macroautophagy TAS --
GO:0030150 protein import into mitochondrial matrix IBA --
genes like me logo Genes that share ontologies with TOMM40: view

No data available for SIGNOR curated interactions for TOMM40 Gene

Drugs & Compounds for TOMM40 Gene

(4) Drugs for TOMM40 Gene - From: NovoSeek and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ritonavir Approved, Investigational Pharma HIV protease inhibitor 833
cholesterol Experimental Pharma Agonist 0
Antivirals for treatment of HIV infections, combinations Pharma 0
ATP Pharma Activator 0

(3) Additional Compounds for TOMM40 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TOMM40: view

Transcripts for TOMM40 Gene

Unigene Clusters for TOMM40 Gene

Translocase of outer mitochondrial membrane 40 homolog (yeast):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TOMM40

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TOMM40 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1: -
SP2: -

Relevant External Links for TOMM40 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TOMM40 Gene

mRNA expression in normal human tissues for TOMM40 Gene

Protein differential expression in normal tissues from HIPED for TOMM40 Gene

This gene is overexpressed in Nasal epithelium (20.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TOMM40 Gene

SOURCE GeneReport for Unigene cluster for TOMM40 Gene Hs.655909

genes like me logo Genes that share expression patterns with TOMM40: view

Protein tissue co-expression partners for TOMM40 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TOMM40 Gene

Orthologs for TOMM40 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TOMM40 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia TOMM40 35
  • 91.04 (n)
  • 96.68 (a)
TOMM40 36
  • 97 (a)
(Canis familiaris)
Mammalia TOMM40 35
  • 91.78 (n)
  • 96.4 (a)
TOMM40 36
  • 96 (a)
(Mus musculus)
Mammalia Tomm40 35
  • 88.64 (n)
  • 93.07 (a)
Tomm40 16
Tomm40 36
  • 93 (a)
(Rattus norvegicus)
Mammalia Tomm40 35
  • 87.72 (n)
  • 91.69 (a)
(Monodelphis domestica)
Mammalia TOMM40 36
  • 77 (a)
(Ornithorhynchus anatinus)
Mammalia TOMM40 36
  • 74 (a)
(Pan troglodytes)
Mammalia TOMM40 36
  • 100 (a)
(Anolis carolinensis)
Reptilia TOMM40 36
  • 82 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75995 35
tomm40 35
  • 72.62 (n)
  • 85.39 (a)
African clawed frog
(Xenopus laevis)
Amphibia tomm40-prov 35
(Danio rerio)
Actinopterygii tomm40 35
  • 71.58 (n)
  • 77.88 (a)
wufb68h07 35
tomm40 36
  • 74 (a)
tomm40l 36
  • 73 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8330 37
  • 48 (a)
Tom40 37
  • 54 (a)
Tom40 35
  • 59.58 (n)
  • 55.05 (a)
Tom40 36
  • 50 (a)
tomboy40 36
  • 47 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007871 35
  • 58.17 (n)
  • 53.92 (a)
(Caenorhabditis elegans)
Secernentea C18E9.6 37
  • 45 (a)
tomm-40 35
  • 51.48 (n)
  • 45.55 (a)
tomm-40 36
  • 44 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL183C 35
  • 44.36 (n)
  • 30.86 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F06292g 35
  • 39.19 (n)
  • 29.3 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TOM40 35
  • 40.64 (n)
  • 30.48 (a)
TOM40 36
  • 21 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G50400 35
  • 43.09 (n)
  • 31.94 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU01179 35
  • 48.15 (n)
  • 31.85 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tom40 35
  • 40.22 (n)
  • 31.37 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2065 36
  • 46 (a)
Species with no ortholog for TOMM40:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TOMM40 Gene

Gene Tree for TOMM40 (if available)
Gene Tree for TOMM40 (if available)

Paralogs for TOMM40 Gene

Paralogs for TOMM40 Gene

(1) SIMAP similar genes for TOMM40 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with TOMM40: view

Variants for TOMM40 Gene

Sequence variations from dbSNP and Humsavar for TOMM40 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs10119 -- 44,903,416(-) AATTC(C/T)GGAAT utr-variant-3-prime
rs157580 -- 44,892,009(+) TCAGC(A/G)AGGTT intron-variant
rs157581 -- 44,892,457(-) ACCTG(A/G)AAATG synonymous-codon, reference
rs157582 -- 44,892,962(-) TAGAA(A/G)GATAC intron-variant
rs157583 -- 44,893,416(-) TCAGT(A/C/T)CCCCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TOMM40 Gene

Variant ID Type Subtype PubMed ID
dgv3948n71 CNV Loss 21882294
nsv509747 CNV Insertion 20534489
dgv3949n71 CNV Loss 21882294
nsv912133 CNV Loss 21882294
nsv912134 CNV Loss 21882294

Variation tolerance for TOMM40 Gene

Residual Variation Intolerance Score: 35.57% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.98; 20.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TOMM40 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TOMM40 Gene

Disorders for TOMM40 Gene

MalaCards: The human disease database

(7) MalaCards diseases for TOMM40 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
wolfram syndrome 2
  • wfs2
charcot-marie-tooth neuropathy type 2a
  • cmt2a
barth syndrome
  • mga type 2
wolfram syndrome
  • didmoad
- elite association

Relevant External Links for TOMM40

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with TOMM40: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TOMM40 Gene

Publications for TOMM40 Gene

  1. During hypoxia, HUMMR joins the mitochondrial dance. (PMID: 20016276) Li Y. … Rempe D.A. (Cell Cycle 2010) 23 67
  2. Two modular forms of the mitochondrial sorting and assembly machinery are involved in biogenesis of alpha-helical outer membrane proteins. (PMID: 20026336) Thornton N. … Becker T. (J. Mol. Biol. 2010) 23 67
  3. Nix, a receptor protein for mitophagy in mammals. (PMID: 20200478) Kanki T. (Autophagy 2010) 23 67
  4. Mitochondria supply membranes for autophagosome biogenesis during starvation. (PMID: 20478256) Hailey D.W. … Lippincott-Schwartz J. (Cell 2010) 23 67
  5. The enigmatic role of Mim1 in mitochondrial biogenesis. (PMID: 19944477) Stefan Dimmer K. … Rapaport D. (Eur. J. Cell Biol. 2010) 23 67

Products for TOMM40 Gene

Sources for TOMM40 Gene

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