ENSG00000124140


Homo sapiens

Features
Gene ID: ENSG00000124140
  
Biological name :SLC12A5
  
Synonyms : Q9H2X9 / SLC12A5 / solute carrier family 12 member 5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 20
Strand: 1
Band: q13.12
Gene start: 46021690
Gene end: 46060152
  
Corresponding Affymetrix probe sets: 210040_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000477569
Ensembl peptide - ENSP00000490442
Ensembl peptide - ENSP00000487449
Ensembl peptide - ENSP00000487372
Ensembl peptide - ENSP00000487291
Ensembl peptide - ENSP00000486382
Ensembl peptide - ENSP00000485953
Ensembl peptide - ENSP00000484585
Ensembl peptide - ENSP00000478369
Ensembl peptide - ENSP00000243964
Ensembl peptide - ENSP00000387694
Ensembl peptide - ENSP00000446091
Ensembl peptide - ENSP00000476885
NCBI entrez gene - 57468     See in Manteia.
OMIM - 606726
RefSeq - NM_020708
RefSeq - NM_001134771
RefSeq - XM_017027981
RefSeq Peptide - NP_001128243
RefSeq Peptide - NP_065759
swissprot - A0A087X201
swissprot - M4PM71
swissprot - B7Z3T3
swissprot - M4PNC0
swissprot - Q9H2X9
swissprot - V9GYL3
swissprot - M4PNB5
swissprot - A0A1B0GVB1
swissprot - A0A0D9SGF9
swissprot - A0A0D9SGD0
swissprot - A0A0D9SGA5
swissprot - A0A0D9SF89
Ensembl - ENSG00000124140
  
Related genetic diseases (OMIM): 616645 - Epileptic encephalopathy, early infantile, 34, 616645
  616685 - {Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685
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
 slc12a5aENSDARG00000075815Danio rerio
 slc12a5bENSDARG00000078187Danio rerio
 SLC12A5ENSGALG00000042199Gallus gallus
 Q91V14ENSMUSG00000017740Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9Y666 / SLC12A7 / solute carrier family 12 member 7ENSG0000011350470
Q9UHW9 / SLC12A6 / solute carrier family 12 member 6ENSG0000014019968
Q9UP95 / SLC12A4 / solute carrier family 12 member 4ENSG0000012406765
P55011 / SLC12A2 / solute carrier family 12 member 2ENSG0000006465125
Q13621 / SLC12A1 / solute carrier family 12 member 1ENSG0000007480324
P55017 / SLC12A3 / solute carrier family 12 member 3ENSG0000007091522
Q9BXP2 / SLC12A9 / solute carrier family 12 member 9ENSG0000014682819
A0AV02 / SLC12A8 / solute carrier family 12 member 8ENSG0000022195515


Protein motifs (from Interpro)
Interpro ID Name
 IPR000076  K/Cl co-transporter
 IPR004841  Amino acid permease/ SLC12A domain
 IPR004842  SLC12A transporter family
 IPR018491  SLC12A transporter, C-terminal
 IPR030358  K/Cl co-transporter 2


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006813 potassium ion transport IEA
 biological_processGO:0006821 chloride transport IEA
 biological_processGO:0006873 cellular ion homeostasis IDA
 biological_processGO:0006971 hypotonic response IDA
 biological_processGO:0007268 chemical synaptic transmission IEA
 biological_processGO:0007612 learning IEA
 biological_processGO:0030644 cellular chloride ion homeostasis IDA
 biological_processGO:0035264 multicellular organism growth IEA
 biological_processGO:0040040 thermosensory behavior IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0060996 dendritic spine development IDA
 biological_processGO:0071805 potassium ion transmembrane transport IEA
 biological_processGO:1902476 chloride transmembrane transport IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0043198 dendritic shaft IEA
 molecular_functionGO:0005215 transporter activity IEA
 molecular_functionGO:0015108 chloride transmembrane transporter activity IDA
 molecular_functionGO:0015293 symporter activity IEA
 molecular_functionGO:0015377 cation:chloride symporter activity IEA
 molecular_functionGO:0015379 potassium:chloride symporter activity IEA


Pathways (from Reactome)
Pathway description
Cation-coupled Chloride cotransporters


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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:0001249 Mental retardation 
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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:0002059 Cerebral atrophy 
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 HP:0002133 Status epilepticus 
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 HP:0002188 Delayed myelination 
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 HP:0002540 Inability to walk 
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 HP:0003593 Early onset 
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 HP:0003781 Excessive salivation 
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 HP:0005484 Microcephaly, postnatal 
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 HP:0006813 Unilateral clonic seizures 
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 HP:0007256 Mild pyramidal signs 
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 HP:0007334 Partial seizures with secondary generalization "`Partial seizures` (HP:0007359) with secondary evolution into a `generalized seizures` (HP:0002197)." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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