ENSG00000110628


Homo sapiens

Features
Gene ID: ENSG00000110628
  
Biological name :SLC22A18
  
Synonyms : Q96BI1 / SLC22A18 / solute carrier family 22 member 18
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: p15.4
Gene start: 2899721
Gene end: 2925246
  
Corresponding Affymetrix probe sets: 204981_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000433019
Ensembl peptide - ENSP00000311139
Ensembl peptide - ENSP00000369948
Ensembl peptide - ENSP00000392072
Ensembl peptide - ENSP00000307859
NCBI entrez gene - 5002     See in Manteia.
OMIM - 602631
RefSeq - XM_011520142
RefSeq - NM_001315501
RefSeq - NM_001315502
RefSeq - NM_002555
RefSeq - NM_183233
RefSeq - XM_011520141
RefSeq Peptide - NP_002546
RefSeq Peptide - NP_001302431
RefSeq Peptide - NP_001302430
RefSeq Peptide - NP_899056
swissprot - E9PMN7
swissprot - E9PRM7
swissprot - Q96BI1
Ensembl - ENSG00000110628
  
Related genetic diseases (OMIM): 114480 - Breast cancer, somatic, 114480
  211980 - Lung cancer, somatic, 211980
  268210 - Rhabdomyosarcoma, somatic, 268210
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
 slc22a18ENSDARG00000052271Danio rerio
 SLC22A18ENSGALG00000006454Gallus gallus
 Slc22a18ENSMUSG00000000154Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MFSD9 / Q8NBP5 / major facilitator superfamily domain containing 9ENSG0000013595324


Protein motifs (from Interpro)
Interpro ID Name
 IPR001958  Tetracycline resistance protein TetA/multidrug resistance protein MdtG
 IPR011701  Major facilitator superfamily
 IPR020846  Major facilitator superfamily domain
 IPR036259  MFS transporter superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006855 drug transmembrane transport IEA
 biological_processGO:0007588 excretion NAS
 biological_processGO:0015695 organic cation transport NAS
 biological_processGO:0015893 drug transport IDA
 biological_processGO:0046618 drug export IEA
 biological_processGO:0055085 transmembrane transport IEA
 cellular_componentGO:0005635 nuclear envelope IDA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 molecular_functionGO:0005215 transporter activity IEA
 molecular_functionGO:0015238 drug transmembrane transporter activity IDA
 molecular_functionGO:0015293 symporter activity IEA
 molecular_functionGO:0015307 drug:proton antiporter activity TAS
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI


Pathways (from Reactome)
Pathway description
Organic cation transport
Defective SLC22A18 causes lung cancer (LNCR) and embryonal rhabdomyosarcoma 1 (RMSE1)


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:0000007 Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001425 Heterogeneous 
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 HP:0003002 Breast cancer 
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 HP:0006519 Alveolar cell carcinoma 
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 HP:0006743 Embryonal rhabdomyosarcoma 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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