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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
  • 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 Import Receptor Subunit TOM40 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 Wolfram Syndrome 2 and Charcot-Marie-Tooth Neuropathy Type 2A. Among its related pathways are Pink/Parkin Mediated Mitophagy 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 MIR5187.

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

Enhancers for TOMM40 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
GH19F044868 1 Ensembl ENCODE 12.9 -21.0 -20972 3.2 HDGF ATF1 ARNT MLX ARID4B ZNF48 YY1 ZNF121 MCM3 SP5 NECTIN2 TOMM40 APOE ZNF225 PIR35850
GH19F044889 1.2 FANTOM5 ENCODE 4.7 +1.2 1158 5.1 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF180 ZNF234 ZNF230 RELB ZNF45 APOE NECTIN2 TOMM40 APOC1P1 GEMIN7
GH19F044878 0.7 ENCODE 0.4 -11.5 -11510 1.8 ZNF740 DPF2 RAD21 ZIC2 ARID1B POLR2A GLIS1 KDM1A NECTIN2 TOMM40 PIR35850
GH19F044875 0.4 ENCODE 0.4 -13.9 -13892 2.2 ZFHX2 MAZ POLR2A GLIS1 JUNB PRDM10 EGR2 NECTIN2 ENSG00000266903 TOMM40 PIR35850
GH19F044873 1.1 ENCODE 0.3 -16.5 -16534 1.3 GATAD2A ELF3 SRF TFE3 SAP130 JUNB ARID4B SIN3A DMAP1 YY1 NECTIN2 PIR35850 TOMM40
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around TOMM40 on UCSC Golden Path with GeneCards custom track

Promoters for TOMM40 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000044715 531 2201 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for TOMM40 Gene

Chromosome:
19
Start:
44,890,569 bp from pter
End:
44,903,689 bp from pter
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:
    • 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.

    Alternative splice isoforms for TOMM40 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TOMM40 Gene

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TOMM40 Gene

GenScript: Design optimal peptide antigens:

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.

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: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

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
Jensen Localization Image for TOMM40 Gene COMPARTMENTS Subcellular localization image for TOMM40 gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 5
cytosol 4
endoplasmic reticulum 1
lysosome 1
plasma membrane 1
vacuole 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,IDA 11745481
GO:0005741 mitochondrial outer membrane IEA,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

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 IMP 15644312
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0015031 protein transport IEA --
GO:0016236 macroautophagy TAS --
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: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ritonavir Approved, Investigational Pharma HIV protease inhibitor 870
Antivirals for treatment of HIV infections, combinations Pharma 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:

Inhibitory RNA Products

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: -
SP3:
SP4:
SP5:

Relevant External Links for TOMM40 Gene

GeneLoc Exon Structure for
TOMM40
ECgene alternative splicing isoforms for
TOMM40

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, 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:

TOMM40

SOURCE GeneReport for Unigene cluster for TOMM40 Gene:

Hs.655909
genes like me logo Genes that share expression patterns with TOMM40: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia TOMM40 35
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TOMM40 34 35
  • 91.78 (n)
cow
(Bos Taurus)
Mammalia TOMM40 34 35
  • 91.04 (n)
mouse
(Mus musculus)
Mammalia Tomm40 34 16 35
  • 88.64 (n)
rat
(Rattus norvegicus)
Mammalia Tomm40 34
  • 87.72 (n)
oppossum
(Monodelphis domestica)
Mammalia TOMM40 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TOMM40 35
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TOMM40 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tomm40 34
  • 72.62 (n)
MGC75995 34
African clawed frog
(Xenopus laevis)
Amphibia tomm40-prov 34
zebrafish
(Danio rerio)
Actinopterygii tomm40l 35
  • 73 (a)
OneToMany
tomm40 34 35
  • 71.58 (n)
wufb68h07 34
fruit fly
(Drosophila melanogaster)
Insecta Tom40 36 34 35
  • 59.58 (n)
CG8330 36
  • 48 (a)
tomboy40 35
  • 47 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007871 34
  • 58.17 (n)
worm
(Caenorhabditis elegans)
Secernentea tomm-40 34 35
  • 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 34 35
  • 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)
OneToMany
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

ENSEMBL:
Gene Tree for TOMM40 (if available)
TreeFam:
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
rs10119 -- 44,903,416(-) AATTC(C/T)GGAAT utr-variant-3-prime
rs1038025 -- 44,901,715(+) ctggg(C/T)gacag intron-variant, downstream-variant-500B
rs1038026 -- 44,901,805(+) AGAGC(A/G)gccag intron-variant, downstream-variant-500B
rs10418135 -- 44,903,541(+) GAGAG(C/G)AGCTT utr-variant-3-prime
rs1046887 -- 44,903,658(+) AAAAA(A/C)CAACA utr-variant-3-prime

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)

Relevant External Links 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

(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
  • 3-methylglutaconicaciduria type 2
inclusion body myositis
  • distal myopathy with rimmed vacuoles
wolfram syndrome
  • wolfram syndrome 1
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TOMM40

Genetic Association Database (GAD)
TOMM40
Human Genome Epidemiology (HuGE) Navigator
TOMM40
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TOMM40
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 S.G. … Macciardi F. (PLoS ONE 2009) 3 22 46 64
  2. Dissection of the mitochondrial import and assembly pathway for human Tom40. (PMID: 15644312) Humphries A.D. … Ryan M.T. (J. Biol. Chem. 2005) 2 3 4 64
  3. Genetic identity and differential expression of p38.5 (Haymaker) in human malignant and non-malignant cells. (PMID: 11745481) Das B. … Norin A.J. (Int. J. Cancer 2001) 3 4 22 64
  4. 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. (Circ Cardiovasc Genet 2012) 3 46 64
  5. Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort. (PMID: 21123754) Kim S. … Saykin A.J. (Neurology 2011) 3 46 64

Products for TOMM40 Gene

Sources for TOMM40 Gene

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