Gene: SLC12A5

Alternate names for this Gene: DEE34|EIEE34|EIG14|KCC2|hKCC2

Gene Summary: K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms.

Gene is located in Chromosome: 20

Location in Chromosome : 20q13.12

Description of this Gene: solute carrier family 12 member 5

Type of Gene: protein-coding

rs6094239 in SLC12A5 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs142740233 in SLC12A5 gene and EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14 PMID 26528127 2015 Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia.

PMID 24668262 2014 A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation.

PMID 24928908 2014 Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.

rs863225304 in SLC12A5 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 PMID 26333769 2015 Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.

rs12624433 in SLC12A5 gene and Major Depressive Disorder PMID 30718901 2019 Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions.

rs12624433 in SLC12A5 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.