Aliases for TOMM40 Gene
Aliases for TOMM40 Gene
External Ids for TOMM40 Gene
- HGNC: 18001
- Entrez Gene: 10452
- Ensembl: ENSG00000130204
- OMIM: 608061
- UniProtKB: O96008
Previous GeneCards Identifiers for TOMM40 Gene
- GC19P046039
- GC19P045785
- GC19P050070
- GC19P050086
- GC19P045394
- GC19P041824
Summaries 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.
Additional gene information for TOMM40 Gene
- Monarch Initiative
- Search for TOMM40 at DataMed
- Search for TOMM40 at HumanCyc
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 | 2.6 | 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
- 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:
-
- 19q13.32 by HGNC
- 19q13.32 by Entrez Gene
- 19q13.32 by Ensembl
TOMM40 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for TOMM40 Gene
Post-translational modifications for TOMM40 Gene
Other Protein References for TOMM40 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Atlas Antibodies Anti-TOMM40 Antibody (HPA036231) and Anti-TOMM40 Antibody (HPA036232)
- Novus Biologicals Antibodies for TOMM40
-
Abcam antibodies for TOMM40
- Invitrogen Antibodies for TOMM40 (AFLGC-TOMM40)
-
Santa Cruz Biotechnology (SCBT) Antibodies for TOMM40
Protein Products
- Atlas Antibodies PrEST Antigen TOMM40 (APrEST87164) and PrEST Antigen TOMM40 (APrEST87165)
-
OriGene Purified Proteins for TOMM40
- Search Origene for MassSpec and Protein Over-expression Lysates for TOMM40
- Origene Custom Protein Services for TOMM40
- antibodies-online: Search results for 7 available TOMM40 Proteins ranked by validation data
- Compare Top TOMM40 Proteins
-
Quality Products:
Assay Products
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
- InterPro:
- ProtoNet:
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- Family:
-
- Belongs to the Tom40 family.
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
| 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 | -- |
Phenotypes for TOMM40 Gene
- MGI mutant phenotypes for TOMM40:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for TOMM40:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for TOMM40
-
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TOMM40 - Now 50% OFF >
- * TOMM40 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * TOMM40 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for TOMM40
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TOMM40
- genomics-online: gRNA clones - Search results for 118 available TOMM40 gene related products
- Overview of 118 available TOMM40 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for TOMM40
miRNA for TOMM40 Gene
- miRTarBase miRNAs that target TOMM40
-
- hsa-mir-34a-5p (MIRT025243)
- hsa-mir-615-3p (MIRT040094)
- hsa-mir-484 (MIRT042204)
- hsa-mir-324-3p (MIRT042816)
- hsa-mir-328-3p (MIRT568683)
- hsa-mir-7155-3p (MIRT568684)
- hsa-mir-3136-3p (MIRT568685)
- hsa-mir-1245b-3p (MIRT568686)
- hsa-mir-4538 (MIRT568687)
- hsa-mir-4453 (MIRT568688)
- hsa-mir-6848-3p (MIRT640217)
- hsa-mir-6843-3p (MIRT640218)
- hsa-mir-6878-3p (MIRT640219)
- hsa-mir-3187-3p (MIRT640220)
- hsa-mir-4435 (MIRT640221)
- hsa-mir-588 (MIRT640222)
- hsa-mir-4701-5p (MIRT640223)
- hsa-mir-548s (MIRT640224)
- hsa-mir-519e-5p (MIRT640225)
- hsa-mir-515-5p (MIRT640226)
- hsa-mir-6744-3p (MIRT640227)
- hsa-mir-4757-5p (MIRT640228)
- hsa-mir-6131 (MIRT640229)
- hsa-mir-4755-3p (MIRT640230)
- hsa-mir-3663-5p (MIRT640231)
- hsa-mir-3922-3p (MIRT640232)
- hsa-mir-3176 (MIRT640233)
- hsa-mir-5695 (MIRT640234)
- hsa-mir-519d-5p (MIRT640235)
- hsa-mir-1306-3p (MIRT640236)
- hsa-mir-8073 (MIRT640237)
- hsa-mir-221-5p (MIRT640238)
- hsa-mir-1268a (MIRT736716)
- hsa-mir-1268b (MIRT736722)
- hsa-mir-1908-5p (MIRT738334)
- hsa-mir-24-3p (MIRT739236)
- hsa-mir-3190-3p (MIRT740968)
- hsa-mir-3202 (MIRT741181)
- hsa-mir-3610 (MIRT741533)
- hsa-mir-3926 (MIRT743018)
- hsa-mir-4316 (MIRT744008)
- hsa-mir-4437 (MIRT744500)
- hsa-mir-4459 (MIRT744856)
- hsa-mir-449b-3p (MIRT745426)
- hsa-mir-4533 (MIRT746035)
- hsa-mir-4640-5p (MIRT746343)
- hsa-mir-4710 (MIRT747431)
- hsa-mir-4721 (MIRT747564)
- hsa-mir-4726-5p (MIRT747772)
- hsa-mir-4738-3p (MIRT748021)
- hsa-mir-4779 (MIRT748777)
- hsa-mir-4792 (MIRT748927)
- hsa-mir-5008-5p (MIRT749451)
- hsa-mir-5088-5p (MIRT749642)
- hsa-mir-6089 (MIRT751961)
- hsa-mir-6125 (MIRT752069)
- hsa-mir-663a (MIRT753594)
- hsa-mir-665 (MIRT753666)
- hsa-mir-6762-5p (MIRT754990)
- hsa-mir-6787-5p (MIRT755956)
- hsa-mir-6845-5p (MIRT757417)
- hsa-mir-7855-5p (MIRT759962)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for TOMM40
- Browse OriGene Inhibitory RNA Products For TOMM40
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOMM40
- genomics-online: shRNA clones - Search results for 118 available TOMM40 gene related products
- Overview of 118 available TOMM40 gene related 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
-
- MG202732
- MG223210
- MG224111
- MR202732
- MR202732L1
- MR202732L1V
- MR202732L2
- MR202732L2V
- MR202732L3
- MR202732L3V
- MR202732L4
- MR202732L4V
- MR223210
- MR223210L1
- MR223210L1V
- MR223210L2
- MR223210L2V
- MR223210L3
- MR223210L3V
- MR223210L4
- MR223210L4V
- MR224111
- MR224111L1
- MR224111L1V
- MR224111L2
- MR224111L2V
- MR224111L3
- MR224111L3V
- MR224111L4
- MR224111L4V
- RC204211
- RC204211L1
- RC204211L1V
- RC204211L2
- RC204211L2V
- RC204211L3
- RC204211L3V
- RC204211L4
- RC204211L4V
- RC225542
- RC225542L1
- RC225542L1V
- RC225542L2
- RC225542L2V
- RC225542L3
- RC225542L3V
- RC225542L4
- RC225542L4V
- RC225543
- RC225543L1
- RC225543L1V
- RC225543L2
- RC225543L2V
- RC225543L3
- RC225543L3V
- RC225543L4
- RC225543L4V
- RG204211
- RG225542
- RG225543
- RR214623
- RR214623L1
- RR214623L1V
- RR214623L2
- RR214623L2V
- RR214623L3
- RR214623L3V
- RR214623L4
- RR214623L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for TOMM40
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TOMM40
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.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| cytosol | 5 |
| nucleus | 3 |
| plasma membrane | 1 |
| extracellular | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 0 |
- Mitochondria (4)
- Cytosol (2)
| 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 | -- |
Pathways & Interactions for TOMM40 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Amyotrophic lateral sclerosis (ALS) | ||
| 2 | Pink/Parkin Mediated Mitophagy |
1.00
|
|
| 3 | Metabolism of proteins | ||
| 4 | Mitochondrial protein import | ||
Pathways by source for TOMM40 Gene
1 BioSystems pathway for TOMM40 Gene
4 Reactome pathways for TOMM40 Gene
1 KEGG pathway for TOMM40 Gene
Interacting Proteins for TOMM40 Gene
GPS-Prot Interaction Network for TOMM40
| 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 |
No data available for SIGNOR curated interactions for TOMM40 Gene
Drugs & Compounds for TOMM40 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug Products
- Atlas Antibodies PrEST Antigen TOMM40 (APrEST87164) and PrEST Antigen TOMM40 (APrEST87165)
Transcripts for TOMM40 Gene
mRNA/cDNA for TOMM40 Gene
- (3) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (508) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000589253 207 bps (ENST00000589253.1)
- ENST00000252487 1707 bps (ENST00000252487.9)
- ENST00000592434 3415 bps (ENST00000592434.5)
- ENST00000426677 1768 bps (ENST00000426677.6)
- ENST00000589649 731 bps (ENST00000589649.1)
Unigene Clusters for TOMM40 Gene
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TOMM40 - Now 50% OFF >
- * TOMM40 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * TOMM40 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for TOMM40
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TOMM40
- genomics-online: gRNA clones - Search results for 118 available TOMM40 gene related products
- Overview of 118 available TOMM40 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for TOMM40
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for TOMM40
- Browse OriGene Inhibitory RNA Products For TOMM40
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOMM40
- genomics-online: shRNA clones - Search results for 118 available TOMM40 gene related products
- Overview of 118 available TOMM40 gene related 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
-
- MG202732
- MG223210
- MG224111
- MR202732
- MR202732L1
- MR202732L1V
- MR202732L2
- MR202732L2V
- MR202732L3
- MR202732L3V
- MR202732L4
- MR202732L4V
- MR223210
- MR223210L1
- MR223210L1V
- MR223210L2
- MR223210L2V
- MR223210L3
- MR223210L3V
- MR223210L4
- MR223210L4V
- MR224111
- MR224111L1
- MR224111L1V
- MR224111L2
- MR224111L2V
- MR224111L3
- MR224111L3V
- MR224111L4
- MR224111L4V
- RC204211
- RC204211L1
- RC204211L1V
- RC204211L2
- RC204211L2V
- RC204211L3
- RC204211L3V
- RC204211L4
- RC204211L4V
- RC225542
- RC225542L1
- RC225542L1V
- RC225542L2
- RC225542L2V
- RC225542L3
- RC225542L3V
- RC225542L4
- RC225542L4V
- RC225543
- RC225543L1
- RC225543L1V
- RC225543L2
- RC225543L2V
- RC225543L3
- RC225543L3V
- RC225543L4
- RC225543L4V
- RG204211
- RG225542
- RG225543
- RR214623
- RR214623L1
- RR214623L1V
- RR214623L2
- RR214623L2V
- RR214623L3
- RR214623L3V
- RR214623L4
- RR214623L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for TOMM40
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TOMM40
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||
| SP5: |
Expression 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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of TOMM40 Gene:
TOMM40SOURCE GeneReport for Unigene cluster for TOMM40 Gene:
Hs.655909Evidence 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)
Primer Products
-
OriGene qPCR primer pairs for TOMM40
-
OriGene qPCR primer pairs and template standards for TOMM40
- genomics-online: primer clones - Search results for 118 available TOMM40 gene related products
- Overview of 118 available TOMM40 gene related products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | TOMM40 35 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | TOMM40 35 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | TOMM40 35 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Tomm40 17 35 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Tomm40 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | TOMM40 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | TOMM40 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | TOMM40 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | tomm40 34 |
|
||
| MGC75995 34 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | tomm40-prov 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | tomm40l 35 |
|
OneToMany | |
| tomm40 35 34 |
|
OneToMany | |||
| wufb68h07 34 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Tom40 35 36 34 |
|
ManyToMany | |
| CG8330 36 |
|
|
|||
| tomboy40 35 |
|
ManyToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007871 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | tomm-40 35 34 |
|
OneToMany | |
| C18E9.6 36 |
|
|
|||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AFL183C 34 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | TOM40 35 34 |
|
OneToMany | |
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F06292g 34 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT1G50400 34 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU01179 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.2065 35 |
|
OneToMany | |
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | tom40 34 |
|
- 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
(1) SIMAP similar genes for TOMM40 Gene using alignment to 4 proteins:
- TOM40_HUMAN
- K7EJ57_HUMAN
- K7EKG4_HUMAN
- K7EKG6_HUMAN
Pseudogenes.org Pseudogenes for TOMM40 Gene
Variants 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TOMM40 Gene
Disorders for TOMM40 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| early-onset, autosomal dominant alzheimer disease |
|
|
| charcot-marie-tooth neuropathy type 2a |
|
|
| wolfram syndrome 2 |
|
|
| aphasia |
|
|
| wolfram syndrome |
|
|
Search TOMM40 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for TOMM40
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for TOMM40 Gene
Publications for TOMM40 Gene
- 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
- 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
- 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
- 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
- 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
ExternalLinks
Products for TOMM40 Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
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- Browse OriGene Inhibitory RNA Products For TOMM40
- OriGene qPCR primer pairs for TOMM40
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- OriGene CRISPR knockouts for TOMM40
- MG202732
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- MG224111
- MR202732
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- MR224111
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- RC204211
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- RC225542
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- RR214623
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- RR214623L2
- RR214623L2V
- RR214623L3
- RR214623L3V
- RR214623L4
- RR214623L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- High-throughput Antibody Production Service
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- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
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- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for TOMM40 (AFLGC-TOMM40)
- Cyagen custom Knockout/knockin (KOKI) mouse models for TOMM40
- antibodies-online: Search results for 37 available TOMM40 Antibodies ranked by validation data
- Compare Top TOMM40 Antibodies
- antibodies-online: Search results for 11 available TOMM40 Elisa Kits ranked by validation data
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- Quality Products:
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- Search Santa Cruz Biotechnology (SCBT) for TOMM40 siRNA/shRNA
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- genomics-online: cdna clones - Search results for 118 available TOMM40 gene related products
- Overview of 118 available TOMM40 gene related products
- orf clones - Search results for 118 available TOMM40 gene related products
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- Overview of 118 available TOMM40 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TOMM40
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TOMM40
- Search GeneCopoeia for miRNA 3'UTR Target clone products for TOMM40
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOMM40
Sources for TOMM40 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) UniGene
- (28) AceView
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) HGMD
- (45) GAD
- (46) BGMUT
- (47) HuGE
- (48) Atlas
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) OCA
- (69) Proteopedia
- (70) MOPED
- (71) neXtProt
- (72) Reactome
- (73) GeneGo (Thomson Reuters)
- (74) fRNAdb
- (75) DISEASES
- (76) SIMAP
- (77) GenomeRNAi
- (78) LifeMap
- (79) miRTarBase
- (80) MalaCards
- (81) Invitrogen
- (82) BitterDB
- (83) ESI-BIO
- (84) RefSeq
- (85) BioSystems
- (86) MaxQB
- (87) IUPHAR
- (88) BioGPS
- (89) Illumina
- (90) COMPARTMENTS
- (91) HOMER
- (92) PaxDb
- (93) ApexBio
- (94) Addgene
- (95) antibodies-online
- (96) CYP
- (97) NONCODE
- (98) SwitchGear Genomics
- (99) TreeFam
- (100) PathCards
- (101) GeneReviews
- (102) GeneTex
- (103) Taconic Biosciences
- (104) GTEx
- (105) ProteomicsDB
- (106) SCBT
- (107) DGIdb
- (108) ClinicalTrials
- (109) FDA Approved Drugs
- (110) RVIS
- (111) SIGNOR
- (112) diseasecard
- (113) NIH Rare Diseases
- (114) Orphanet
- (115) UMLS
- (116) GTR
- (117) Disease Ontology
- (118) Genetics Home Reference
- (119) MeSH
- (120) MedlinePlus
- (121) CDC
- (122) NINDS
- (123) NCBI Bookshelf
- (124) ClinVar
- (125) Gene Damage Index
- (126) ViGene Biosciences
- (127) HPO
- (128) UDN
- (129) VISTA
- (130) FANTOM5
- (131) ENCODE
- (132) ProSci
- (133) Horizon
- (134) NURSA
- (135) IID
- (136) Cyagen
- (137) VectorBuilder
- (138) SNPedia
- (139) BRCA Exchange
- (140) St John's Lab
- (141) CIViC
- (142) ProteoGenix
- (143) dbSUPER
- (144) TISSUES
- (145) Gene ORGANizer
- (146) abm
- (147) CrownBio
- (148) Human Protein Atlas
- (149) GWAS Catalog
- (150) Monarch Initiative
- (151) DataMed
- (152) HumanCyc
- (153) genomics-online
- (154) UCNEbase
- (155) EPDnew
- (156) Applied Biosystems
- (157) GlyConnect
- (158) Aminode
- (159) GeneCopoeia
- (160) GPS-Prot
- (161) RNACentral
- (162) LncRNADisease
- (163) LOVD
- (164) miR2Disease
- (165) DiseaseEnhancer
- (166) Boster Bio
- (167) Biorbyt
- (168) Biocompare
- (169) Mastermind