ENSG00000124140
Homo sapiens chloride SLC12A5 transport ion activity transporter transmembrane membrane slc potassium symporter k cl co-transporter cellular homeostasis response dendritic plasma integral component retardation seizures amino acid permease domain family c-terminal hypotonic chemical
Features Gene ID: ENSG00000124140 Biological name :SLC12A5 Synonyms : Q9H2X9 / / 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 - ENSP0000047756957468
See in Manteia .
606726 NM_020708 NM_001134771 XM_017027981 NP_001128243 NP_065759 A0A087X201 M4PM71 B7Z3T3 M4PNC0 Q9H2X9 V9GYL3 M4PNB5 A0A1B0GVB1 A0A0D9SGF9 A0A0D9SGD0 A0A0D9SGA5 A0A0D9SF89 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 )Paralog prediction (from Ensembl )Protein motifs (from Interpro )Gene Ontology (GO ) establishment of localization regulation of biological quality response to stress response to abiotic stimulus cell communication system process developmental growth response to chemical cellular component organization anatomical structure development cellular developmental process establishment of localization regulation of biological quality response to stress response to abiotic stimulus cell communication system process developmental growth response to chemical cellular component organization anatomical structure development cellular developmental process establishment of localization regulation of biological quality response to stress response to abiotic stimulus cell communication system process developmental growth response to chemical cellular component organization anatomical structure development cellular developmental process establishment of localization regulation of biological quality response to stress response to abiotic stimulus cell communication system process developmental growth response to chemical cellular component organization anatomical structure development cellular developmental process establishment of localization regulation of biological quality response to stress response to abiotic stimulus cell communication system process developmental growth response to chemical cellular component organization anatomical structure development cellular developmental process establishment of localization regulation of biological quality response to stress response to abiotic stimulus cell communication system process developmental growth response to chemical cellular component organization anatomical structure development cellular developmental process establishment of localization regulation of biological quality response to stress response to abiotic stimulus cell communication system process developmental growth response to chemical cellular component organization anatomical structure development cellular developmental process establishment of localization regulation of biological quality response to stress response to abiotic stimulus cell communication system process developmental growth response to chemical cellular component organization anatomical structure development cellular developmental process establishment of localization regulation of biological quality response to stress response to abiotic stimulus cell communication system process developmental growth response to chemical cellular component organization anatomical structure development cellular developmental process establishment of localization regulation of biological quality response to stress response to abiotic stimulus cell communication system process developmental growth response to chemical cellular component organization anatomical structure development cellular developmental process establishmenestablishment of localization regulation oregulation of biological quality response to response to stress response to response to abiotic stimulus cell communicell communication system procesystem process developmentadevelopmental growth response to response to chemical cellular comcellular component organization anatomical sanatomical structure development cellular devcellular developmental process transmembrane transporter activity transmembrane transporter activity transmembrane transporter activity transmembrane transporter activity transmembrane transporter activity transmembrane transporter activity transmembrane transporter activity transmembrane transporter activity transmembrane transporter activity transmembrane transporter activity transmembrane transporter activitytransmembrane transporter activity cell membrane cell membrane cell membrane cell membrane cell membrane cell membrane cell membrane cell membrane cell membrane cell membrane cellcell membranemembrane
Pathways (from Reactome )Phenotype (from MGI , Zfin or HPO ) Autosomal recessive inheritance Neurological abnormality Age of onset Head and neck abnormality Abnormality of the musculoskeletal system Autosomal recessive inheritance Neurological abnormality Age of onset Head and neck abnormality Abnormality of the musculoskeletal system Autosomal recessive inheritance Neurological abnormality Age of onset Head and neck abnormality Abnormality of the musculoskeletal system Autosomal recessive inheritance Neurological abnormality Age of onset Head and neck abnormality Abnormality of the musculoskeletal system Autosomal recessive inheritance Neurological abnormality Age of onset Head and neck abnormality Abnormality of the musculoskeletal system Autosomal recessive inheritance Neurological abnormality Age of onset Head and neck abnormality Abnormality of the musculoskeletal system Autosomal recessive inheritance Neurological abnormality Age of onset Head and neck abnormality Abnormality of the musculoskeletal system Autosomal recessive inheritance Neurological abnormality Age of onset Head and neck abnormality Abnormality of the musculoskeletal system Autosomal recessive inheritance Neurological abnormality Age of onset Head and neck abnormality Abnormality of the musculoskeletal system Autosomal recessive inheritance Neurological abnormality Age of onset Head and neck abnormality Abnormality of the musculoskeletal system Autosomal recessive inheritaAutosomal recessive inheritance Neurological abnormalityNeurological abnormality Age of onsetAge of onset Head and neck abnormalityHead and neck abnormality Abnormality of the musculoskAbnormality of the musculoskeletal system 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]
Show HP:0001249 Mental retardation
Show 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]
Show HP:0002059 Cerebral atrophy
Show HP:0002133 Status epilepticus
Show HP:0002188 Delayed myelination
Show HP:0002540 Inability to walk
Show HP:0003593 Early onset
Show HP:0003781 Excessive salivation
Show HP:0005484 Microcephaly, postnatal
Show HP:0006813 Unilateral clonic seizures
Show HP:0007256 Mild pyramidal signs
Show HP:0007334 Partial seizures with secondary generalization "`Partial seizures` (HP:0007359) with secondary evolution into a `generalized seizures` (HP:0002197)." [HPO:probinson]
Show
Interacting proteins (from Reactome )No match
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