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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 Charcot-Marie-Tooth Neuropathy Type 2A and Early-Onset, Autosomal Dominant Alzheimer Disease. 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
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 2.4 EPDnew FANTOM5 Ensembl ENCODE 654.7 +1.2 1157 5.1 FEZF1 DMAP1 IRF4 YY1 E2F8 ZNF143 SP3 NFYC MEF2D SSRP1 TOMM40 ENSG00000267282 ZNF180 ZNF234 ZNF45 ZNF224 CLASRP ZNF155 ENSG00000269148 ZNF225
GH19J044868 Enhancer 1.3 Ensembl ENCODE dbSUPER 13 -20.9 -20919 3.1 FOXA2 MLX ARID4B ZNF48 NFKBIZ RXRA SP5 MIER2 REST KAT8 NECTIN2 TOMM40 APOE ZNF225 PIR35850
GH19J044866 Enhancer 0.4 dbSUPER 13 -23.9 -23857 0.6 KLF1 REST ZNF623 TOMM40 APOE PIR35850 NECTIN2
GH19J044903 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 0.4 +14.8 14777 4 HDGF HNRNPUL1 PKNOX1 MLX ARID4B SIN3A DMAP1 SLC30A9 POLR2B E2F8 APOE ZNF180 ZNF224 CLASRP ZNF45 ZNF230 ZNF284 ZNF234 FBXO46 ENSG00000269148
GH19J044856 Enhancer 1.3 Ensembl ENCODE dbSUPER 0.3 -32.8 -32797 3.5 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF48 YY1 TCF12 ZNF121 KLF7 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
  • c-Jun
  • ATF-2
  • Sp1
  • E2F-3a
  • E2F
  • E2F-1
  • E2F-2
  • E2F-5

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).

    Alternative splice isoforms for TOMM40 Gene

    UniProtKB/Swiss-Prot:

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

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:

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

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
extracellular 5
mitochondrion 5
cytosol 5
nucleus 3
plasma membrane 1
endoplasmic reticulum 1
lysosome 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 IDA,IMP 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 IMP 15644312
GO:0006811 ion transport IEA --
GO:0015031 protein 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

(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 897
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:

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
ECgene alternative splicing isoforms for
TOMM40

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:

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 34
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TOMM40 34 33
  • 91.78 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TOMM40 34 33
  • 91.04 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tomm40 16 34 33
  • 88.64 (n)
rat
(Rattus norvegicus)
Mammalia Tomm40 33
  • 87.72 (n)
oppossum
(Monodelphis domestica)
Mammalia TOMM40 34
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TOMM40 34
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TOMM40 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tomm40 33
  • 72.62 (n)
MGC75995 33
African clawed frog
(Xenopus laevis)
Amphibia tomm40-prov 33
zebrafish
(Danio rerio)
Actinopterygii tomm40l 34
  • 73 (a)
OneToMany
tomm40 34 33
  • 71.58 (n)
OneToMany
wufb68h07 33
fruit fly
(Drosophila melanogaster)
Insecta Tom40 34 35 33
  • 59.58 (n)
ManyToMany
CG8330 35
  • 48 (a)
tomboy40 34
  • 47 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007871 33
  • 58.17 (n)
worm
(Caenorhabditis elegans)
Secernentea tomm-40 34 33
  • 51.48 (n)
OneToMany
C18E9.6 35
  • 45 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL183C 33
  • 44.36 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TOM40 34 33
  • 40.64 (n)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F06292g 33
  • 39.19 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G50400 33
  • 43.09 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01179 33
  • 48.15 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2065 34
  • 46 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tom40 33
  • 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 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

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

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

Disorder Aliases PubMed IDs
charcot-marie-tooth neuropathy type 2a
  • cmt2a
early-onset, autosomal dominant alzheimer disease
  • early-onset autosomal dominant alzheimer disease
wolfram syndrome 2
  • wfs2
barth syndrome
  • bths
wolfram syndrome
  • wfs
- 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 22 44 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 22 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 44 58

Products for TOMM40 Gene

Sources for TOMM40 Gene

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