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TOMM40 Gene

protein-coding   GIFtS: 64
GCID: GC19P045394

Translocase Of Outer Mitochondrial Membrane 40 Homolog (Yeast)

  See TOMM40-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Translocase Of Outer Mitochondrial Membrane 40 Homolog (Yeast)1 2     p38.52 3
PEREC12 3 5     D19S1177E2
TOM402 3 5     PER-EC12
Protein Haymaker2 3     Mitochondrial Import Receptor Subunit TOM40 Homolog2
Translocase Of Outer Membrane 40 KDa Subunit Homolog2 3     Mitochondrial Outer Membrane Protein2
C19orf12 3     

External Ids:    HGNC: 180011   Entrez Gene: 104522   Ensembl: ENSG000001302047   OMIM: 6080615   UniProtKB: O960083   

Export aliases for TOMM40 gene to outside databases

Previous GC identifers: GC19P046039 GC19P045785 GC19P050070 GC19P050086 GC19P041824


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TOMM40 Gene:
TOMM40 is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is
essential for protein import into mitochondria (Humphries et al., 2005 (PubMed 15644312)).(supplied by OMIM, May
2008)

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. GO annotations related to this gene include protein transmembrane transporter activity and porin activity. An important paralog of this gene is TOMM40L.

UniProtKB/Swiss-Prot: TOM40_HUMAN, O96008
Function: Channel-forming protein essential for import of protein precursors into mitochondria (By similarity)

Gene Wiki entry for TOMM40 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TOMM40 gene promoter:
         E2F-3a   E2F-5   Sp1   AP-1   ATF-2   E2F-2   E2F   E2F-1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTOMM40 promoter sequence
   Search Chromatin IP Primers for TOMM40

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TOMM40


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13   Ensembl cytogenetic band:  19q13.32   HGNC cytogenetic band: 19q13

TOMM40 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TOMM40 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P045394:  view genomic region     (about GC identifiers)

Start:
45,393,826 bp from pter      End:
45,406,946 bp from pter
Size:
13,121 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TOM40_HUMAN, O96008 (See protein sequence)
Recommended Name: Mitochondrial import receptor subunit TOM40 homolog  
Size: 361 amino acids; 37893 Da
Subunit: 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
Secondary accessions: Q86VW4 Q8WY09 Q8WY10 Q8WY11 Q9BR95
Alternative splicing: 2 isoforms:  O96008-1   O96008-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TOMM40: NX_O96008

Explore proteomics data for TOMM40 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys184
  • Modification sites at PhosphoSitePlus

  • See TOMM40 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001122388.1  NP_001122389.1  NP_006105.1  

    ENSEMBL proteins: 
     ENSP00000465611   ENSP00000252487   ENSP00000466084   ENSP00000410339   ENSP00000465032  
     ENSP00000465608   ENSP00000385184  
    Reactome Protein details: O96008

    TOMM40 Human Recombinant Protein Products:

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    Novus Biologicals TOMM40 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for TOMM40

     
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    antibodies-online proteins for TOMM40 (7 products) 

     
    antibodies-online peptides for TOMM40

    TOMM40 Antibody Products:

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    antibodies-online antibodies for TOMM40 (11 products) 

    TOMM40 Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR027246 Porin_Euk/Tom40
     IPR023614 Porin_dom

    Graphical View of Domain Structure for InterPro Entry O96008

    ProtoNet protein and cluster: O96008

    UniProtKB/Swiss-Prot: TOM40_HUMAN, O96008
    Similarity: Belongs to the Tom40 family


    Find genes that share domains with TOMM40           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TOM40_HUMAN, O96008
    Function: Channel-forming protein essential for import of protein precursors into mitochondria (By similarity)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008320protein transmembrane transporter activity TAS15644312
    GO:0015288porin activity IEA--
         
    Find genes that share ontologies with TOMM40           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for TOMM40:
     Synthetic lethal with Ras 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for TOMM40

    miRNA
    Products:
        
    miRTarBase miRNAs that target TOMM40:
    hsa-mir-324-3p (MIRT042816), hsa-mir-484 (MIRT042204), hsa-mir-34a-5p (MIRT025243), hsa-mir-615-3p (MIRT040094)

    Block miRNA regulation of human, mouse, rat TOMM40 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TOMM40 (see all 16):
    hsa-miR-3607-3p hsa-miR-125a-5p hsa-miR-1321 hsa-miR-340 hsa-miR-125b hsa-miR-3662 hsa-miR-1231 hsa-miR-324-3p
    SwitchGear 3'UTR luciferase reporter plasmidTOMM40 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TOMM40
    Predesigned siRNA for gene silencing in human, mouse, rat TOMM40

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOMM40


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TOM40_HUMAN, O96008: Mitochondrion outer membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    extracellular1
    lysosome1
    nucleus1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739NOT mitochondrion IMP11745481
    GO:0005741mitochondrial outer membrane ----
    GO:0005742mitochondrial outer membrane translocase complex IDA12198123
    GO:0016021integral component of membrane IDA15644312
    GO:0031307integral component of mitochondrial outer membrane ISS10980201

    Find genes that share ontologies with TOMM40           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TOMM40 About    
    See pathways by source

    SuperPathContained pathways About
    1Amyotrophic lateral sclerosis (ALS)
    Amyotrophic lateral sclerosis (ALS)0.63
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30
    3Mitochondrial Protein Import
    Mitochondrial Protein Import


    Find genes that share SuperPaths with TOMM40           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for TOMM40
        Mitochondrial protein import


    1 Kegg Pathway  (Kegg details for TOMM40):
        Amyotrophic lateral sclerosis (ALS)

        Pathway & Disease-focused RT2 Profiler PCR Array including TOMM40: 
              Mitochondria in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TOMM40

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TOMM40 (O960082, 3 ENSP000002524874) via UniProtKB, MINT, STRING, and/or I2D (see all 74)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BAXQ078123, ENSP000002932884I2D: score=1 STRING: ENSP00000293288
    HLA-BP304803, ENSP000003991684I2D: score=1 STRING: ENSP00000399168
    TOMM22Q9NS693, ENSP000002160344I2D: score=2 STRING: ENSP00000216034
    TOMM7Q9P0U13, ENSP000003512144I2D: score=2 STRING: ENSP00000351214
    SEC24CP539923I2D: score=5 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006626protein targeting to mitochondrion TAS--
    GO:0006811ion transport IEA--
    GO:0044267cellular protein metabolic process TAS--
    GO:0055085transmembrane transport ----
    GO:0071806protein transmembrane transport TAS15644312

    Find genes that share ontologies with TOMM40           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TOMM40 (TOM40)

    5 Novoseek inferred chemical compound relationships for TOMM40 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    benzodiazepine 45.3 4 20058813 (1), 11158628 (1), 15528269 (1), 10418986 (1)
    steroid 19.4 4 20058813 (1), 11158628 (1), 10418986 (1)
    atp 9.32 1 2163763 (1)
    cholesterol 7.73 6 11158628 (1), 15528269 (1), 19409385 (1), 10418986 (1)
    lipid 0 3 18208519 (1), 16260501 (1)

    2 PharmGKB related drug/compound annotations for TOMM40 gene    About this table
    Drug/compound PharmGKB Annotation
    Antivirals for treatment of HIV infections, combinationsCA  
    ritonavirCA  



    Find genes that share compounds with TOMM40           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TOMM40 gene (3 alternative transcripts): 
    NM_001128916.1  NM_001128917.1  NM_006114.2  

    Unigene Cluster for TOMM40:

    Translocase of outer mitochondrial membrane 40 homolog (yeast)
    Hs.655909  [show with all ESTs]
    Unigene Representative Sequence: BC047528
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000589253 ENST00000252487(uc002ozx.4) ENST00000592434 ENST00000426677(uc002paa.4)
    ENST00000589649 ENST00000592041 ENST00000405636(uc002ozz.3 uc002ozy.4)

    miRNA
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    Block miRNA regulation of human, mouse, rat TOMM40 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TOMM40 (see all 16):
    hsa-miR-3607-3p hsa-miR-125a-5p hsa-miR-1321 hsa-miR-340 hsa-miR-125b hsa-miR-3662 hsa-miR-1231 hsa-miR-324-3p
    SwitchGear 3'UTR luciferase reporter plasmidTOMM40 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TOMM40
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    Primer
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    OriGene qPCR primer pairs and template standards for TOMM40
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TOMM40
      QuantiTect SYBR Green Assays in human, mouse, rat TOMM40
      QuantiFast Probe-based Assays in human, mouse, rat TOMM40

    Additional mRNA sequence: 

    AF043250.1 AF316398.1 AF316399.1 AF316401.1 AF316402.1 BC001779.1 BC006413.1 BC012134.1 
    BC017224.2 BC047528.1 

    22 DOTS entries:

    DT.213308  DT.100877798  DT.100877801  DT.100877802  DT.97766761  DT.91765506  DT.121495293  DT.100772082 
    DT.100877785  DT.121495319  DT.100842091  DT.121495264  DT.95164854  DT.100836039  DT.100877783  DT.120664028 
    DT.100761034  DT.91888090  DT.95164836  DT.100667766  DT.121495313  DT.95100774 

    Selected AceView cDNA sequences (see all 508):

    BG682741 CR616015 BQ448628 BM773232 CR616352 CA422508 BX348103 BE397283 
    CR604933 BG283881 BE858950 BM451748 BM791403 AI190910 CR621607 BQ061471 
    BQ883428 CR609207 BC017224 BU521814 BF114617 CR616832 AI566898 BE531289 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for TOMM40    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
    SP1:              -                                                         
    SP2:              -                                                         
    SP3:                                                                        
    SP4:                                                                        
    SP5:                                                                        


    ECgene alternative splicing isoforms for TOMM40

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TOMM40 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTATAAGTT
    TOMM40 Expression
    About this image


    TOMM40 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    TOMM40 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TOMM40 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.655909
        Pathway & Disease-focused RT2 Profiler PCR Array including TOMM40: 
              Mitochondria in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat TOMM40
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOMM40

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TOMM40 gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tomm401 , 5 translocase of outer mitochondrial membrane 40 homolog more1, 5 88.64(n)1
    93.07(a)1
      7 (9.94 cM)5
    533331  NM_001109748.11  NP_001103218.11 
     197013135 
    lizard
    (Anolis carolinensis)
    Reptilia TOMM406
    translocase of outer mitochondrial membrane 40 hom...
    82(a)
    1 ↔ 1
    GL343816.1(149029-164187)
    African clawed frog
    (Xenopus laevis)
    Amphibia tomm40-prov2 translocase of outer mitochondrial membrane 40 homolog more 77.19(n)    BC044706.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb68h072 wufb68h07 78.31(n)   322645  BC053295.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Tom401 , 3 carrier3
    Translocase of outer membrane 401
    54(a)
    (best of 2)3
    59.58(n)1
    55.05(a)1
      1 7B73
    449781  NM_001272384.11  NP_001259313.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C18E9.63
    tomm-401
    tomm-401 45(a)3
    51.48(n)1
    45.55(a)1
      II(8972283-8973474)3
    1744311  NM_063511.31  NP_495912.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TOM401 TOM40 40.64(n)
    30.48(a)
      855243   NP_013930.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G504001 AT1G50400 43.09(n)
    31.94(a)
      841462  NM_103923.2  NP_175457.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TOMM40 gene
    TOMM40L2  
    1 SIMAP similar gene for TOMM40 using alignment to 4 protein entries:     TOM40_HUMAN (see all proteins):
    TOMM40L

    Find genes that share paralogs with TOMM40           About GenesLikeMe


    5 Pseudogenes.org Pseudogenes for TOMM40
    PGOHUM00000247707 PGOHUM00000248021 PGOHUM00000246360 PGOHUM00000240337 PGOHUM00000235552


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TOMM40 (see all 374)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1379286911,2
    C--45393144(+) AAGCTC/GGACTG 3 -- us2k10--------
    rs1892199081,2
    --45393147(+) CTCGAC/TTGAGT 3 -- us2k10--------
    rs1816202971,2
    --45393175(+) AGCCTA/GGGAAA 3 -- us2k10--------
    rs285339941,2
    F--45393247(+) GCTACT/ACTGGA 3 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1434732971,2
    --45393352(+) CCTTGC/TCTTTA 3 -- us2k10--------
    rs81029771,2
    C,F,H--45393473(+) GGAGCC/TCAAGG 3 -- us2k111Minor allele frequency- T:0.06NS EA NA WA 1212
    rs1173104491,2
    C,F--45393516(+) AGAGGC/TAGAGT 3 -- us2k11Minor allele frequency- T:0.02NA 120
    rs1505384851,2
    --45393663(+) TCTGGC/GCAATG 3 -- us2k10--------
    rs739369671,2
    C,F--45393742(+) CCGCAG/ATGACG 3 -- us2k12Minor allele frequency- A:0.09WA 120
    rs1395649061,2
    --45393825(+) GGCATC/TGTGGG 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for TOMM40 (45393826 - 45406946 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for TOMM40:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509747CNV Insertion20534489
    nsv912134CNV Loss21882294
    nsv912133CNV Loss21882294
    dgv3949n71CNV Loss21882294
    dgv3948n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): TOMM40
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TOMM40
    DNA2.0 Custom Variant and Variant Library Synthesis for TOMM40

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608061    OMIM disorders: --

    8 diseases for TOMM40:    
    About MalaCards
    wolfram syndrome 2    charcot-marie-tooth neuropathy type 2a    wolfram syndrome    barth syndrome
    primary progressive aphasia    aphasia    charcot-marie-tooth neuropathy type 2    alzheimer's disease

    1 disease from the University of Copenhagen DISEASES database for TOMM40:
    Alzheimer's disease

    Find genes that share disorders with TOMM40           About GenesLikeMe

    1 Novoseek inferred disease relationship for TOMM40 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    necrosis 0 1 16912318 (1)

    Genetic Association Database (GAD): TOMM40
    Human Genome Epidemiology (HuGE) Navigator: TOMM40 (16 documents)

    Export disorders for TOMM40 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TOMM40 gene, integrated from 10 sources (see all 164):
    (articles sorted by number of sources associating them with TOMM40)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Dissection of the mitochondrial import and assembly pathway for human Tom40. (PubMed id 15644312)1, 2, 3 Humphries A.D.... Ryan M.T. (J. Biol. Chem. 2005)
    2. Genetic identity and differential expression of p38.5 (Haymaker) in human malignant and non-malignant cells. (PubMed id 11745481)1, 2, 9 Das B.... Norin A.J. (Int. J. Cancer 2001)
    3. Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease. (PubMed id 19668339)1, 4, 9 Potkin S.G....Macciardi F. (PLoS ONE 2009)
    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. (PubMed id 22399527)1, 4 Kristiansson K....Salomaa V. (Circ Cardiovasc Genet 2012)
    5. Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. (PubMed id 21943158)1, 4 Middelberg R.P....Whitfield J.B. (BMC Med. Genet. 2011)
    6. The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease. (PubMed id 21627779)1, 4 AntA_nez C....Ruiz A. (Genome Med 2011)
    7. Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort. (PubMed id 21123754)1, 4 Kim S....Saykin A.J. (Neurology 2011)
    8. Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort. (PubMed id 20100581)1, 4 Shen L....Saykin A.J. (Neuroimage 2010)
    9. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    10. Genome-wide association analysis of total cholesterol and high-density lipoprotein cholesterol levels using the Framingham heart study data. (PubMed id 20370913)1, 4 Ma L....Da Y. (BMC Med. Genet. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10452 HGNC: 18001 AceView: TOMM40 Ensembl:ENSG00000130204 euGenes: HUgn10452
    ECgene: TOMM40 Kegg: 10452 H-InvDB: TOMM40

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TOMM40 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TOMM40 gene:
    Search GeneIP for patents involving TOMM40

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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