ENSG00000103546


Homo sapiens

Features
Gene ID: ENSG00000103546
  
Biological name :SLC6A2
  
Synonyms : P23975 / SLC6A2 / solute carrier family 6 member 2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: 1
Band: q12.2
Gene start: 55655604
Gene end: 55706192
  
Corresponding Affymetrix probe sets: 210353_s_at (Human Genome U133 Plus 2.0 Array)   215715_at (Human Genome U133 Plus 2.0 Array)   216610_at (Human Genome U133 Plus 2.0 Array)   216611_s_at (Human Genome U133 Plus 2.0 Array)   217213_at (Human Genome U133 Plus 2.0 Array)   217214_s_at (Human Genome U133 Plus 2.0 Array)   217621_at (Human Genome U133 Plus 2.0 Array)   239394_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000457473
Ensembl peptide - ENSP00000457375
Ensembl peptide - ENSP00000460214
Ensembl peptide - ENSP00000219833
Ensembl peptide - ENSP00000369237
Ensembl peptide - ENSP00000394956
Ensembl peptide - ENSP00000454439
Ensembl peptide - ENSP00000454603
Ensembl peptide - ENSP00000456210
Ensembl peptide - ENSP00000456377
NCBI entrez gene - 6530     See in Manteia.
OMIM - 163970
RefSeq - XM_011523300
RefSeq - NM_001043
RefSeq - NM_001172501
RefSeq - NM_001172502
RefSeq - NM_001172504
RefSeq - XM_006721263
RefSeq - XM_011523295
RefSeq - XM_011523296
RefSeq - XM_011523297
RefSeq - XM_011523298
RefSeq - XM_011523299
RefSeq Peptide - NP_001165973
RefSeq Peptide - NP_001165975
RefSeq Peptide - NP_001165972
RefSeq Peptide - NP_001034
swissprot - H3BRE9
swissprot - H3BRS0
swissprot - I3L368
swissprot - P23975
swissprot - A0A024R6T9
swissprot - H3BM11
swissprot - H3BML6
swissprot - H3BMY5
Ensembl - ENSG00000103546
  
Related genetic diseases (OMIM): 604715 - Orthostatic intolerance, 604715
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
 slc6a2ENSDARG00000016141Danio rerio
 SLC6A2ENSGALG00000003560Gallus gallus
 O55192ENSMUSG00000055368Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q01959 / SLC6A3 / solute carrier family 6 member 3ENSG0000014231965
P31645 / SLC6A4 / solute carrier family 6 member 4ENSG0000010857648
P30531 / SLC6A1 / solute carrier family 6 member 1ENSG0000015710342
Q9NSD5 / SLC6A13 / solute carrier family 6 member 13ENSG0000001037942
P31641 / SLC6A6 / solute carrier family 6 member 6ENSG0000013138940
Q9Y345 / SLC6A5 / solute carrier family 6 member 5ENSG0000016597040
P48065 / SLC6A12 / solute carrier family 6 member 12ENSG0000011118140
Q99884 / SLC6A7 / solute carrier family 6 member 7ENSG0000001108340
P48029 / SLC6A8 / solute carrier family 6 member 8ENSG0000013082140
P48067 / SLC6A9 / solute carrier family 6 member 9ENSG0000019651739
Q9UN76 / SLC6A14 / solute carrier family 6 member 14ENSG0000026810439
P48066 / SLC6A11 / solute carrier family 6 member 11ENSG0000013216439


Protein motifs (from Interpro)
Interpro ID Name
 IPR000175  Sodium:neurotransmitter symporter
 IPR002435  Sodium:neurotransmitter symporter, noradrenaline
 IPR037272  Sodium:neurotransmitter symporter superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006836 neurotransmitter transport IEA
 biological_processGO:0007268 chemical synaptic transmission TAS
 biological_processGO:0015844 monoamine transport IDA
 biological_processGO:0015874 norepinephrine transport IEA
 biological_processGO:0035725 sodium ion transmembrane transport IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0048265 response to pain IEA
 biological_processGO:0055085 transmembrane transport IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0009986 cell surface IEA
 cellular_componentGO:0016020 membrane TAS
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0045121 membrane raft IEA
 molecular_functionGO:0005328 neurotransmitter:sodium symporter activity IEA
 molecular_functionGO:0005333 norepinephrine transmembrane transporter activity IEA
 molecular_functionGO:0005334 norepinephrine:sodium symporter activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008504 monoamine transmembrane transporter activity IDA
 molecular_functionGO:0015293 symporter activity IEA
 molecular_functionGO:0043014 alpha-tubulin binding IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0048487 beta-tubulin binding IEA


Pathways (from Reactome)
Pathway description
Na+/Cl- dependent neurotransmitter transporters
Defective SLC6A2 causes orthostatic intolerance (OI)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0012173 Orthostatic tachycardia "An increase in heart rate with standing of 30 beats per minute or more." [HPO:probinson, pmid:9244228]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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