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Aliases for TOMM40 Gene

Aliases for TOMM40 Gene

  • Translocase Of Outer Mitochondrial Membrane 40 2 3 5
  • Translocase Of Outer Membrane 40 KDa Subunit Homolog 3 4
  • Mitochondrial Import Receptor Subunit TOM40 Homolog 3 4
  • Protein Haymaker 3 4
  • C19orf1 3 4
  • PEREC1 3 4
  • TOM40 3 4
  • P38.5 3 4
  • Translocase Of Outer Mitochondrial Membrane 40 Homolog (Yeast) 2
  • Translocase Of Outer Mitochondrial Membrane 40 Homolog 3
  • Mitochondrial Outer Membrane Protein 3
  • AC011481.1 5
  • 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) is a Protein Coding gene. Diseases associated with TOMM40 include Early-Onset, Autosomal Dominant Alzheimer Disease and Charcot-Marie-Tooth Neuropathy Type 2A. Among its related pathways are Amyotrophic lateral sclerosis (ALS) and Pink/Parkin Mediated Mitophagy. Gene Ontology (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

Additional gene information for TOMM40 Gene

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

Genomics for TOMM40 Gene

GeneHancer (GH) Regulatory Elements for TOMM40 Gene

Promoters and enhancers for TOMM40 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J044889 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE 604.6 +1.2 1157 5.1 HDGF SP1 CC2D1A ZFX ELF3 MNT NKRF POLR2A MLLT1 CEBPG TOMM40 ENSG00000267282 ZNF180 ZNF45 CLASRP ZNF224 ZNF155 ZNF234 SYMPK ZNF230
GH19J044868 Enhancer 1.1 ENCODE dbSUPER 13 -20.9 -20919 3.1 ELF3 CEBPG RERE ZNF24 TFE3 SP1 SP5 ZNF384 ZNF644 KAT8 NECTIN2 TOMM40 APOE ZNF225 PIR35850
GH19J044866 Enhancer 0.4 dbSUPER 13 -23.9 -23857 0.6 REST ZNF623 KLF1 TOMM40 APOE PIR35850 NECTIN2
GH19J044903 Promoter 0.9 EPDnew 0.4 +13.0 12955 0.1 ATF1 CTCF ZXDB POLR2A ZBTB17 SIN3A SUPT5H ZNF507 L3MBTL2 APOE ZNF225 ZNF45 ZNF180 ENSG00000270679 ZNF234 DM1-AS ZNF112 CEACAM19 GC19P044899
GH19J044856 Enhancer 1.1 ENCODE dbSUPER 0.3 -32.7 -32735 3.4 ELF3 CBFA2T2 ZNF121 AHR TFE3 SP1 HNF1A SP5 KAT8 RXRA NECTIN2 APOE ENSG00000266903 PIR35850 TOMM40
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TOMM40 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TOMM40 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-5
  • Sp1

Genomic Locations for TOMM40 Gene

Genomic Locations for TOMM40 Gene
13,121 bases
Plus strand
13,121 bases
Plus strand

Genomic View for TOMM40 Gene

Genes around TOMM40 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TOMM40 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    • A0A024R0P9
    • 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. Interacts with TIMM29; linking the TIM22 complex to the TOM complex (PubMed:27554484). Interacts (via N-terminus) with CYP1A1 (via mitochondrial targeting signal); this interaction is required for CYP1A1 translocation across the mitochondrial outer membrane.

    Alternative splice isoforms for TOMM40 Gene


neXtProt entry for TOMM40 Gene

Post-translational modifications for TOMM40 Gene

  • Ubiquitination at isoforms=2184
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TOMM40 Gene

Domains & Families for TOMM40 Gene

Gene Families for TOMM40 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

Protein Domains for TOMM40 Gene

Suggested Antigen Peptide Sequences for TOMM40 Gene

GenScript: Design optimal peptide antigens:
  • p38.5 (TOM40_HUMAN)

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

Function for TOMM40 Gene

Molecular function for TOMM40 Gene

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

Phenotypes From GWAS Catalog for TOMM40 Gene

Gene Ontology (GO) - Molecular Function for TOMM40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 27554484
GO:0008320 protein transmembrane transporter activity TAS 15644312
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

Human Phenotype Ontology for TOMM40 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for TOMM40 Gene

miRTarBase miRNAs that target TOMM40

Clone Products

  • Applied Biological Materials (abm): Clones for TOMM40 - Now 50% OFF >
  • * TOMM40 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * TOMM40 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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

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 TOMM40 gene
Compartment Confidence
mitochondrion 5
cytosol 5
nucleus 3
plasma membrane 1
extracellular 1
endoplasmic reticulum 1
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (4)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TOMM40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 NOT mitochondrion IMP,IDA 11745481
GO:0005741 mitochondrial outer membrane TAS --
GO:0005742 mitochondrial outer membrane translocase complex IDA 12198123
GO:0005743 mitochondrial inner membrane IDA 24746669
GO:0005829 cytosol IDA --
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

1 KEGG pathway for TOMM40 Gene

Gene Ontology (GO) - Biological Process for TOMM40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006626 protein targeting to mitochondrion ISS --
GO:0006811 ion transport IEA --
GO:0015031 protein transport IEA --
GO:0016236 macroautophagy TAS --
GO:0030150 protein import into mitochondrial matrix IBA 21873635
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

(5) Drugs for TOMM40 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ritonavir Approved, Investigational Pharma HIV protease inhibitor 932
Antivirals for treatment of HIV infections, combinations Pharma 0

(2) 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

Clone Products

  • Applied Biological Materials (abm): Clones for TOMM40 - Now 50% OFF >
  • * TOMM40 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * TOMM40 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for TOMM40 Gene

Protein tissue co-expression partners for TOMM40 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TOMM40 Gene:


SOURCE GeneReport for Unigene cluster for TOMM40 Gene:


Evidence on tissue expression from TISSUES for TOMM40 Gene

  • Nervous system(4.7)
  • Skin(4.6)
  • Lung(4.5)
  • Blood(4.4)
  • Eye(4.3)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with TOMM40: view

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 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
(Pan troglodytes)
Mammalia TOMM40 35
  • 100 (a)
(Canis familiaris)
Mammalia TOMM40 35 34
  • 91.78 (n)
(Bos Taurus)
Mammalia TOMM40 35 34
  • 91.04 (n)
(Mus musculus)
Mammalia Tomm40 17 35 34
  • 88.64 (n)
(Rattus norvegicus)
Mammalia Tomm40 34
  • 87.72 (n)
(Monodelphis domestica)
Mammalia TOMM40 35
  • 77 (a)
(Ornithorhynchus anatinus)
Mammalia TOMM40 35
  • 74 (a)
(Anolis carolinensis)
Reptilia TOMM40 35
  • 82 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tomm40 34
  • 72.62 (n)
MGC75995 34
African clawed frog
(Xenopus laevis)
Amphibia tomm40-prov 34
(Danio rerio)
Actinopterygii tomm40l 35
  • 73 (a)
tomm40 35 34
  • 71.58 (n)
wufb68h07 34
fruit fly
(Drosophila melanogaster)
Insecta Tom40 35 36 34
  • 59.58 (n)
CG8330 36
  • 48 (a)
tomboy40 35
  • 47 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007871 34
  • 58.17 (n)
(Caenorhabditis elegans)
Secernentea tomm-40 35 34
  • 51.48 (n)
C18E9.6 36
  • 45 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL183C 34
  • 44.36 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TOM40 35 34
  • 40.64 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F06292g 34
  • 39.19 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G50400 34
  • 43.09 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01179 34
  • 48.15 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2065 35
  • 46 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tom40 34
  • 40.22 (n)
Species where no ortholog for TOMM40 was found in the sources mined by GeneCards:
  • 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)
Evolutionary constrained regions (ECRs) for TOMM40: view image

Paralogs for TOMM40 Gene

Paralogs for TOMM40 Gene

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

  • K7EJ57_HUMAN
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 Variation AA Info Type
rs1000117006 -- 44,890,572(+) G/C upstream_transcript_variant
rs1000280246 -- 44,895,061(+) C/T intron_variant
rs1000311363 -- 44,891,239(+) C/A/T 5_prime_UTR_variant
rs1000428942 -- 44,891,349(+) C/G 5_prime_UTR_variant, intron_variant
rs1000633301 -- 44,896,094(+) A/G/T intron_variant

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

Variant ID Type Subtype PubMed ID
nsv509747 CNV insertion 20534489

Variation tolerance for TOMM40 Gene

Residual Variation Intolerance Score: 35.6% 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)

Additional Variant Information for TOMM40 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

(5) MalaCards diseases for TOMM40 Gene - From: HGMD, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
early-onset, autosomal dominant alzheimer disease
  • early-onset autosomal dominant alzheimer disease
charcot-marie-tooth neuropathy type 2a
  • cmt2a
wolfram syndrome 2
  • wfs2
wolfram syndrome
  • wfs
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TOMM40

Genetic Association Database
Human Genome Epidemiology 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. Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease. (PMID: 19668339) Potkin SG … Alzheimer's Disease Neuroimaging Initiative (PloS one 2009) 3 23 45 58
  2. Dissection of the mitochondrial import and assembly pathway for human Tom40. (PMID: 15644312) Humphries AD … Ryan MT (The Journal of biological chemistry 2005) 2 3 4 58
  3. Genetic identity and differential expression of p38.5 (Haymaker) in human malignant and nonmalignant cells. (PMID: 11745481) Das B … Norin AJ (International journal of cancer 2001) 3 4 23 58
  4. Tim29 is a novel subunit of the human TIM22 translocase and is involved in complex assembly and stability. (PMID: 27554484) Kang Y … Stojanovski D (eLife 2016) 3 4 58
  5. Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits. (PMID: 22399527) Kristiansson K … Salomaa V (Circulation. Cardiovascular genetics 2012) 3 45 58

Products for TOMM40 Gene

Sources for TOMM40 Gene

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