Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10452
Gene name Gene Name - the full gene name approved by the HGNC.
Translocase of outer mitochondrial membrane 40
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TOMM40
Synonyms (NCBI Gene) Gene synonyms aliases
C19orf1, D19S1177E, PER-EC1, PEREC1, TOM40
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.32
Summary Summary of gene provided in NCBI Entrez 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 mitocho
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT025243 hsa-miR-34a-5p Proteomics 21566225
MIRT025243 hsa-miR-34a-5p Proteomics 21566225
MIRT025243 hsa-miR-34a-5p Proteomics 21566225
MIRT025243 hsa-miR-34a-5p Proteomics 21566225
MIRT042816 hsa-miR-324-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 27554484, 31206022, 31412244
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA
GO:0005739 Component Mitochondrion IMP 11745481
GO:0005741 Component Mitochondrial outer membrane ISS 10980201
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608061 18001 ENSG00000130204
Protein
UniProt ID O96008
Protein name Mitochondrial import receptor subunit TOM40 homolog (Protein Haymaker) (Translocase of outer membrane 40 kDa subunit homolog) (p38.5)
Protein function Channel-forming protein essential for import of protein precursors into mitochondria (PubMed:15644312, PubMed:31206022). Plays a role in the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) by forming a com
PDB 7CK6 , 7CP9 , 7VBY , 7VC4 , 7VD2 , 7VDD , 8XVA , 9EIH , 9EII , 9EIJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01459 Porin_3 79 355 Eukaryotic porin Family
Sequence
Sequence length 361
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Mitophagy - animal
Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases
  Pink/Parkin Mediated Mitophagy
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Hyperlipidemia Hyperlipidemia N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 22911757
Alzheimer Disease Associate 16943564, 17434289, 19442637, 19554612, 19734902, 20029386, 20298972, 20885792, 21123754, 21379329, 21455713, 21459483, 21784354, 21803501, 21820212
View all (73 more)
Alzheimer Disease Stimulate 19668339, 34204109
Alzheimer Disease Inhibit 30462377
Arthritis Rheumatoid Associate 36524113
Ataxia Telangiectasia Associate 24439168
Atrophy Associate 26993346, 31760383
Calcinosis Cutis Associate 38285218
Carcinoma Non Small Cell Lung Associate 36408734
Cardiomyopathy Dilated Inhibit 33303703