ENSG00000130204


Homo sapiens

Features
Gene ID: ENSG00000130204
  
Biological name :TOMM40
  
Synonyms : O96008 / TOMM40 / translocase of outer mitochondrial membrane 40
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: q13.32
Gene start: 44890569
Gene end: 44903689
  
Corresponding Affymetrix probe sets: 202264_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000466084
Ensembl peptide - ENSP00000465608
Ensembl peptide - ENSP00000465611
Ensembl peptide - ENSP00000252487
Ensembl peptide - ENSP00000385184
Ensembl peptide - ENSP00000410339
Ensembl peptide - ENSP00000465032
NCBI entrez gene - 10452     See in Manteia.
OMIM - 608061
RefSeq - XM_005258411
RefSeq - NM_001128916
RefSeq - NM_001128917
RefSeq - NM_006114
RefSeq Peptide - NP_001122389
RefSeq Peptide - NP_001122388
RefSeq Peptide - NP_006105
swissprot - O96008
swissprot - K7EKG4
swissprot - K7EJ57
swissprot - K7EKG6
Ensembl - ENSG00000130204
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tomm40ENSDARG00000092112Danio rerio
 tomm40lENSDARG00000036721Danio rerio
 Q9QYA2ENSMUSG00000002984Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q969M1 / TOMM40L / translocase of outer mitochondrial membrane 40 likeENSG0000015888253


Protein motifs (from Interpro)
Interpro ID Name
 IPR027246  Eukaryotic porin/Tom40


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006626 protein targeting to mitochondrion IMP
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0016236 macroautophagy TAS
 biological_processGO:0030150 protein import into mitochondrial matrix IBA
 biological_processGO:0055085 transmembrane transport IEA
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005741 mitochondrial outer membrane TAS
 cellular_componentGO:0005742 mitochondrial outer membrane translocase complex IDA
 cellular_componentGO:0005743 mitochondrial inner membrane IDA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IDA
 cellular_componentGO:0031307 integral component of mitochondrial outer membrane ISS
 cellular_componentGO:0046930 pore complex IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008320 protein transmembrane transporter activity TAS
 molecular_functionGO:0015288 porin activity IEA


Pathways (from Reactome)
Pathway description
Mitochondrial protein import
Pink/Parkin Mediated Mitophagy


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000504 Abnormality of vision "Abnormality of eyesight (visual perception)." [HPO:curators]
Show

 HP:0000657 Oculomotor apraxia 
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 HP:0000713 Agitation 
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 HP:0000734 Disinhibition 
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 HP:0000738 Hallucinations 
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
Show

 HP:0001251 Ataxia "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators]
Show

 HP:0001276 Hypertonia 
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 HP:0001289 Confusion "Lack of clarity and coherence of thought, perception, understanding, or action." [HPO:curators]
Show

 HP:0001300 Parkinsonism 
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 HP:0001336 Myoclonus "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators]
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 HP:0002120 Cerebral cortical atrophy 
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 HP:0002185 Neurofibrillary tangles 
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 HP:0002354 Memory impairment 
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 HP:0002381 Aphasia 
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 HP:0002463 Language impairment 
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 HP:0003791 Deposits immunoreactive to beta-amyloid protein 
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 HP:0010525 Finger agnosia "An inability or difficulty differentiating among the fingers of either hand as well as the hands of others." [HPO:curators]
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 HP:0010526 Dysgraphia "A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment." [HPO:curators]
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 HP:0012433 Abnormal social behavior "An abnormality of actions or reactions of a person taking place during interactions with others." [HPO:probinson]
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 HP:0030219 Semantic dementia "A progressive loss of the ability to remember the meaning of words, faces and objects." [ICM:PCaroppo, pmid:24966676]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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