ENSG00000165646


Homo sapiens

Features
Gene ID: ENSG00000165646
  
Biological name :SLC18A2
  
Synonyms : Q05940 / SLC18A2 / solute carrier family 18 member A2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: 1
Band: q25.3
Gene start: 117241073
Gene end: 117279430
  
Corresponding Affymetrix probe sets: 1553328_a_at (Human Genome U133 Plus 2.0 Array)   205857_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000496339
Ensembl peptide - ENSP00000298472
NCBI entrez gene - 6571     See in Manteia.
OMIM - 193001
RefSeq - NM_003054
RefSeq Peptide - NP_003045
swissprot - Q05940
Ensembl - ENSG00000165646
  
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
 Q8BRU6ENSMUSG00000025094Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P54219 / SLC18A1 / solute carrier family 18 member A1ENSG0000003656563
Q16572 / SLC18A3 / solute carrier family 18 member A3ENSG0000018771436
Q6NT16 / SLC18B1 / solute carrier family 18 member B1ENSG0000014640917


Protein motifs (from Interpro)
Interpro ID Name
 IPR011701  Major facilitator superfamily
 IPR020846  Major facilitator superfamily domain
 IPR036259  MFS transporter superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001975 response to amphetamine IEA
 biological_processGO:0006836 neurotransmitter transport IEA
 biological_processGO:0006837 serotonin transport IEA
 biological_processGO:0007268 chemical synaptic transmission TAS
 biological_processGO:0007269 neurotransmitter secretion TAS
 biological_processGO:0007626 locomotory behavior IEA
 biological_processGO:0009636 response to toxic substance IEA
 biological_processGO:0009791 post-embryonic development IEA
 biological_processGO:0015842 aminergic neurotransmitter loading into synaptic vesicle IBA
 biological_processGO:0015844 monoamine transport TAS
 biological_processGO:0015872 dopamine transport TAS
 biological_processGO:0042137 sequestering of neurotransmitter NAS
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0098700 neurotransmitter loading into synaptic vesicle TAS
 biological_processGO:1903427 negative regulation of reactive oxygen species biosynthetic process NAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0008021 synaptic vesicle TAS
 cellular_componentGO:0016020 membrane TAS
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030659 cytoplasmic vesicle membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0070083 clathrin-sculpted monoamine transport vesicle membrane TAS
 molecular_functionGO:0008504 monoamine transmembrane transporter activity TAS
 molecular_functionGO:0015222 serotonin transmembrane transporter activity IBA


Pathways (from Reactome)
Pathway description
Serotonin Neurotransmitter Release Cycle
Norepinephrine Neurotransmitter Release Cycle
Dopamine Neurotransmitter Release Cycle
Na+/Cl- dependent neurotransmitter transporters


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000338 Hypomimic face 
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 HP:0000496 Abnormality of eye movement "An abnormality in voluntary or involuntary eye movements or their control." [HPO:probinson]
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 HP:0000508 Ptosis "Drooping of the eyelid." [HPO:curators]
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 HP:0000975 Hyperhidrosis "An abnormally increased perspiration." [HPO:probinson]
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 HP:0001260 Dysarthria "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001285 Spastic tetraparesis "Spastic weakness affecting all four limbs." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001300 Parkinsonism 
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 HP:0001337 Tremor "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators]
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 HP:0001611 Nasal speech 
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 HP:0001760 Abnormality of the feet "An abnormality of the feet (foot deformity) is a disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, Congenital vertical talus (rocker bottom foot) & etc." [HPO:curators]
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 HP:0002075 Dysdiadochokinesis "An inability to perform rapidly alternating movements, such as rhythmically tapping the fingers on the knee, generally related to a cerebellar lesion." [HPO:curators]
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 HP:0002310 Orofacial dyskinesia 
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 HP:0002360 Sleep disturbances "An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness." [HPO:curators]
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 HP:0002362 Shuffling gait 
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 HP:0002421 Poor head control 
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 HP:0002451 Limb dystonia 
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 HP:0002597 Abnormality of the vasculature 
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 HP:0005484 Microcephaly, postnatal 
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 HP:0008936 Muscular hypotonia of the trunk "Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk." [HPO:curators]
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 HP:0010307 Stridor "Stridor is a high pitched sound resulting from turbulent air flow in the upper airway." [HPO:curators]
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 HP:0010553 Oculogyric crisis "An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications." [HPO:curators]
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 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
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 HP:0030215 Inappropriate crying "Uncontrolled episodes of crying, without apparent motivating stimuli." [ICM:PCaroppo]
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 HP:0100543 Cognitive impairment "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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