Recombinant Human Solute carrier family 12 member 5 (SLC12A5), partial

1. the long-time considered "neuron-specific" KCC2 co-transporter is expressed in pancreatic islet beta-cells where it modulates Ca(2+)-dependent insulin secretion. PMID: 28496181
2. These data clearly demonstrated that partially disrupted neuronal Cl(-) extrusion, mediated by two types of differentially impaired KCC2 mutant in an individual, causes epilepsy of infancy with migrating focal seizures. PMID: 27436767
3. Study describes the developmental patterns of cation-chloride cotransporters in the human brain from the fetal stage to senescence. Expression of KCC2 and its functionally associated proteins begins in early fetal period. PMID: 26428952
4. The authors show that APP can physically interact with KCC2, a neuron-specific K(+)-Cl(-) cotransporter that is essential for Cl(-) homeostasis and fast GABAergic inhibition. PMID: 28054918
5. SLC12A5 promoted the migration and invasion of BUC by enhancing MMP-7 expression. PMID: 28333147
6. Study shows that the overall expression of potassium-chloride cotransporter-2 is increased in the hippocampi of temporal lobe epilepsy patients. PMID: 26427846
7. Our network model suggested the loss of KCC2 in a critical number of pyramidal cells increased external potassium and intracellular chloride concentrations leading to seizure-like field potential oscillations. These oscillations included transient discharges leading to ictal-like field events with frequency spectra as in vitro Restoration of KCC2 function suppressed seizure activity and thus may present a useful therapeut PMID: 27852771
8. The KCC2 exerts specific functions for the maturation of glycinergic synapses in cultured spinal cord neurons. PMID: 26780567
9. SLC12A5 plays a pivotal oncogenic role in colorectal carcinogenesis; its overexpression is an independent prognostic factor of patients with CRC. PMID: 25947013
10. the functional deficit of KCC2 may offer an explanation for the delayed onset of Rett symptoms. PMID: 26733678
11. A KCC2 mutation causes epilepsy of infancy with migrating focal seizures. Decreased KCC2 expression, reduced protein glycosylation and impaired Cl- extrusion contribute to loss of KCC2 activity, impairing synaptic inhibition and promoting excitability. PMID: 26333769
12. these data provide insight into the mechanism regulating Cl(-) homeostasis in immature neurons, and suggest that WNK1-regulated changes in KCC2 phosphorylation contribute to the developmental excitatory-to-inhibitory GABA sequence. PMID: 26126716
13. a novel signaling pathway that couples KCC2 to the cytoskeleton and regulates the formation of glutamatergic synapses. PMID: 26056138
14. These data describe a novel KCC2 variant significantly associated with a human disease and suggest genetically encoded impairment of KCC2 functional regulation may be a risk factor for the development of human IGE. PMID: 24928908
15. KCC2-R952H from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation. PMID: 24668262
16. Functional characterization of mutant SLC12A5 revealed its potential oncogenic effect in colon cancer. PMID: 24699064
17. Reduced KCC2/NKCC1 ratio in the cerebrospinal fluid of Rett Syndrome patients suggests a disturbed process of GABAergic neuronal maturation and open up a new therapeutic perspective. PMID: 23894354
18. Disrupted KCC2 activity seems to be involved in neuropathic pain, epilepsy, motor spasticity, stress and schizophrenia. PMID: 23621303
19. BPA can disrupt Kcc2 gene expression through epigenetic mechanisms PMID: 23440186
20. Alternate transcripts from KCC2 may participate in the abnormal GABA signaling in the dorsolateral prefrontal cortex associated with schizophrenia PMID: 22496567
21. Hyperpolarizing GABAergic transmission depends on KCC2 function and membrane potential. PMID: 22082832
22. KCC2 is widely expressed in several human cancer cell lines and serves to increase cervical tumourigenesis via an ion transport-independent mechanism PMID: 21911617
23. The Wnk3 protein isoforms have a similar effect on SLC12 cotransporters. NKCC1/2 and NCC were inhibited, even in hypertonicity, while KCCs were activated, even in isotonic conditions. PMID: 21613606
24. levels of KCC2 mRNA and protein were significantly decreased in the neurons around large abnormal neurons in focal cortical dysplasia PMID: 21256718
25. analysis of differences in large extracellular loop between the K(+)-Cl(-) cotransporters KCC2 and KCC4 PMID: 20516068
26. chromosome 20 mapping PMID: 11701957
27. Expression of hKCC2 cRNA in Xenopus laevis oocytes results in significant Cl(-)-dependent (86)Rb(+) uptake under isotonic conditions PMID: 12106695
28. human osteoblasts express functional K-Cl cotransporters in their cell membrane that seem to be able to induce the indirect activation of volume-sensitive Cl- channels by KCl through an increase in the intracellular ions, water influx and cell swelling. PMID: 12637262
29. GABAergic transmission is influenced by the neuronal expression chloride-extruding K(+)-Cl(-) cotransporter KCC2--REVIEW PMID: 15528236
30. KCC2 expression is not only necessary but is also sufficient for ending the depolarizing period of GABA in developing cortical neurons PMID: 15932617
31. constitutive K(+)-Cl(-) cotransport mediated by KCC2 is completely independent of serine-threonine phosphatase activity PMID: 16291749
32. decrease in the spontaneous activity transients was associated with a developmental up-regulation of the neuronal chloride extruder K+-Cl- cotransporter 2 PMID: 16324114
33. PKC-dependent phosphorylation of KCC2 may play a central role in modulating both the functional expression of this critical transporter in the brain and the strength of synaptic inhibition PMID: 17693402
34. The novel KCC2a isoform differs from the only previously known KCC2 isoform (now termed KCC2b) by 40 unique N-terminal amino acid residues, including a putative Ste20-related proline alanine-rich kinase-binding site. PMID: 17715129
35. the two isoforms can be coimmunoprecipitated from the neonatal brain, suggesting the presence of endogenous KCC2a-KCC2b heteromers. PMID: 19307176
36. membrane rafts render KCC2 inactive and NKCC1 active PMID: 19686239

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HGNC: 13818

OMIM: 606726

KEGG: hsa:57468

STRING: 9606.ENSP00000387694

UniGene: Hs.21413