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] See more...

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
  • 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 Summary 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 , Rfam classification 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
Score
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 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 504.6 +1.2 1157 5.1 FOXK2 ZBTB40 ZNF217 EP300 SIN3A NRF1 TCF12 POLR2G SP1 NCOR1 TOMM40 ENSG00000267282 NONHSAG026007.2 ZNF180 ZNF234 ZNF45 CLASRP ZNF225 SYMPK FBXO46
GH19J044866 Enhancer 1.2 Ensembl ENCODE dbSUPER 13 -21.8 -21768 4.8 EP300 KDM6A TCF7 ZNF623 FOXA1 REST ZBTB25 TGIF2 TEAD1 ZBTB26 NECTIN2 TOMM40 APOE ZNF225 HSALNG0126506 piR-31534-344
GH19J044878 Enhancer 0.9 Ensembl ENCODE dbSUPER 0.4 -10.7 -10668 3.8 POLR2G ZIC2 POLR2A MYC ZKSCAN1 ZNF513 GLIS1 NR2F1 AGO2 RBM22 NECTIN2 HSALNG0126506 TOMM40
GH19J044875 Enhancer 0.8 Ensembl ENCODE dbSUPER 0.4 -13.9 -13880 2.2 POLR2G SPI1 ZFHX2 MAZ EGR2 POLR2A ESR1 NECTIN2 ENSG00000266903 HSALNG0126506 TOMM40
GH19J044903 Promoter 0.8 EPDnew 0.4 +13.0 12955 0.1 CTCF MYC ZBTB17 MXI1 POLR2G HDAC1 SIN3A SUPT5H YY1 ZNF507 APOE NONHSAG026007.2 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

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TOMM40

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
chr19:44,890,569-44,903,689
(GRCh38/hg38)
Size:
13,121 bases
Orientation:
Plus strand
chr19:45,393,826-45,406,946
(GRCh37/hg19)
Size:
13,121 bases
Orientation:
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:
    O96008-TOM40_HUMAN
    Recommended name:
    Mitochondrial import receptor subunit TOM40 homolog
    Protein Accession:
    O96008
    Secondary Accessions:
    • A0A024R0P9
    • Q86VW4
    • Q8WY09
    • Q8WY10
    • Q8WY11
    • Q9BR95

    Protein attributes for TOMM40 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for TOMM40 Gene

Post-translational modifications for TOMM40 Gene

  • Ubiquitination at Lys184
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TOMM40 Gene

Domains & Families for TOMM40 Gene

Gene Families for TOMM40 Gene

HGNC:
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

O96008

UniProtKB/Swiss-Prot:

TOM40_HUMAN :
  • Belongs to the Tom40 family.
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

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

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 TOMM40 gene
Compartment Confidence
mitochondrion 5
cytosol 5
nucleus 3
plasma membrane 2
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

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,IEA --
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 946
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

mRNA/cDNA for TOMM40 Gene

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

CRISPR Products

Clone 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: -
SP3:
SP4:
SP5:

Relevant External Links for TOMM40 Gene

GeneLoc Exon Structure for
TOMM40

Expression for TOMM40 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TOMM40

SOURCE GeneReport for Unigene cluster for TOMM40 Gene:

Hs.655909

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
chimpanzee
(Pan troglodytes)
Mammalia TOMM40 31
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TOMM40 31 30
  • 91.78 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TOMM40 31 30
  • 91.04 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tomm40 17 31 30
  • 88.64 (n)
rat
(Rattus norvegicus)
Mammalia Tomm40 30
  • 87.72 (n)
oppossum
(Monodelphis domestica)
Mammalia TOMM40 31
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TOMM40 31
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TOMM40 31
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tomm40 30
  • 72.62 (n)
MGC75995 30
African clawed frog
(Xenopus laevis)
Amphibia tomm40-prov 30
zebrafish
(Danio rerio)
Actinopterygii tomm40l 31
  • 73 (a)
OneToMany
tomm40 31 30
  • 71.58 (n)
OneToMany
wufb68h07 30
fruit fly
(Drosophila melanogaster)
Insecta Tom40 31 32 30
  • 59.58 (n)
ManyToMany
CG8330 32
  • 48 (a)
tomboy40 31
  • 47 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007871 30
  • 58.17 (n)
worm
(Caenorhabditis elegans)
Secernentea tomm-40 31 30
  • 51.48 (n)
OneToMany
C18E9.6 32
  • 45 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL183C 30
  • 44.36 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TOM40 31 30
  • 40.64 (n)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F06292g 30
  • 39.19 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G50400 30
  • 43.09 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01179 30
  • 48.15 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2065 31
  • 46 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tom40 30
  • 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

ENSEMBL:
Gene Tree for TOMM40 (if available)
TreeFam:
Gene Tree for TOMM40 (if available)
Aminode:
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:

  • TOM40_HUMAN
  • K7EJ57_HUMAN
  • K7EKG4_HUMAN
  • K7EKG6_HUMAN
genes like me logo Genes that share paralogs with TOMM40: view

Variants for TOMM40 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TOMM40 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
722423 Likely Benign: not provided 44,892,394(+) G/C MISSENSE_VARIANT
774355 Benign: not provided 44,891,562(+) T/G MISSENSE_VARIANT
783843 Benign: not provided 44,900,743(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for TOMM40 Gene

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

Human Gene Mutation Database (HGMD)
TOMM40
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TOMM40

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

Disorders for TOMM40 Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TOMM40

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 41 54
  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 54
  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 54
  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 54
  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 41 54

Products for TOMM40 Gene

  • Signalway ELISA kits for TOMM40
  • Signalway Proteins for TOMM40

Sources for TOMM40 Gene