Property Summary

NCBI Gene PubMed Count 43
Grant Count 113
R01 Count 74
Funding $17,659,562.71
PubMed Score 352.63
PubTator Score 155.75

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (14)

Disease log2 FC p
astrocytoma -3.100 0.002
ependymoma -5.900 0.000
oligodendroglioma -3.100 0.000
glioblastoma -5.000 0.000
sonic hedgehog group medulloblastoma -5.600 0.000
atypical teratoid/rhabdoid tumor -4.800 0.000
medulloblastoma, large-cell -4.600 0.000
primitive neuroectodermal tumor -3.400 0.001
pediatric high grade glioma -4.900 0.000
pilocytic astrocytoma -5.900 0.000
subependymal giant cell astrocytoma -4.225 0.017
Pick disease -1.800 0.030
ovarian cancer 1.900 0.000
pituitary cancer 2.200 0.000

Synonym

Accession Q9H2X9 A2RTX2 Q5VZ41 Q9H4Z0 Q9ULP4
Symbols KCC2
EIG14
hKCC2
EIEE34

Gene

MLP Assay (9)

AID Type Active / Inconclusive / Inactive Description
1456 other 4127 / 0 / 185148 Identification of Novel Modulators of Cl- dependent Transport Process via HTS: Primary Screen
1713 other 546 / 325 / 2824 Identification of Novel Modulators of Cl- dependent Transport Process via HTS: Secondary Assay with KCC2 cells
1714 other 1815 / 313 / 1567 Identification of Novel Modulators of Cl- dependent Transport Process via HTS: Secondary Assay 3 with KCC2 cells
1715 other 867 / 371 / 2457 Identification of Novel Modulators of Cl- dependent Transport Process via HTS: Secondary Assay 2 with KCC2 cells
1723 confirmatory 8 / 17 / 37 Identification of Novel Modulators of Cl- dependent Transport Process via HTS: Dose-Dependent Assay 2 with KCC2
1734 confirmatory 22 / 0 / 4 Identification of Novel Modulators of Cl- dependent Transport Process via HTS: Rubidium Flux
1736 confirmatory 92 / 204 / 313 Identification of Novel Modulators of Cl- dependent Transport Process via HTS; Dose-dependent Assay with KCC2
1737 confirmatory 3 / 9 / 50 Identification of Novel Modulators of Cl- dependent Transport Process via HTS: Dose-dependent Assay 3 with KCC2
1799 summary 1 / 0 / 0 Identification of Novel Modulators of Cl- dependent Transport Process via HTS: Antagonist Probe Summary

Gene RIF (32)

PMID Text
26733678 the functional deficit of KCC2 may offer an explanation for the delayed onset of Rett symptoms.
26333769 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.
26126716 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.
26056138 a novel signaling pathway that couples KCC2 to the cytoskeleton and regulates the formation of glutamatergic synapses.
25947013 SLC12A5 plays a pivotal oncogenic role in colorectal carcinogenesis; its overexpression is an independent prognostic factor of patients with CRC.
24928908 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.
24699064 Functional characterization of mutant SLC12A5 revealed its potential oncogenic effect in colon cancer.
24668262 KCC2-R952H from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation.
23894354 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.
23621303 Disrupted KCC2 activity seems to be involved in neuropathic pain, epilepsy, motor spasticity, stress and schizophrenia.
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AA Sequence

MSRRFTVTSLPPAGPARSPDPESRRHSVADPRHLPGEDVKGDGNPKESSPFINSTDTEKGKEYDGKNMAL      1 - 70
FEEEMDTSPMVSSLLSGLANYTNLPQGSREHEEAENNEGGKKKPVQAPRMGTFMGVYLPCLQNIFGVILF     71 - 140
LRLTWVVGIAGIMESFCMVFICCSCTMLTAISMSAIATNGVVPAGGSYYMISRSLGPEFGGAVGLCFYLG    141 - 210
TTFAGAMYILGTIEILLAYLFPAMAIFKAEDASGEAAAMLNNMRVYGTCVLTCMATVVFVGVKYVNKFAL    211 - 280
VFLGCVILSILAIYAGVIKSAFDPPNFPICLLGNRTLSRHGFDVCAKLAWEGNETVTTRLWGLFCSSRFL    281 - 350
NATCDEYFTRNNVTEIQGIPGAASGLIKENLWSSYLTKGVIVERSGMTSVGLADGTPIDMDHPYVFSDMT    351 - 420
SYFTLLVGIYFPSVTGIMAGSNRSGDLRDAQKSIPTGTILAIATTSAVYISSVVLFGACIEGVVLRDKFG    421 - 490
EAVNGNLVVGTLAWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAISRDGIVPFLQVFGHGKANGEPTWA    491 - 560
LLLTACICEIGILIASLDEVAPILSMFFLMCYMFVNLACAVQTLLRTPNWRPRFRYYHWTLSFLGMSLCL    561 - 630
ALMFICSWYYALVAMLIAGLIYKYIEYRGAEKEWGDGIRGLSLSAARYALLRLEEGPPHTKNWRPQLLVL    631 - 700
VRVDQDQNVVHPQLLSLTSQLKAGKGLTIVGSVLEGTFLENHPQAQRAEESIRRLMEAEKVKGFCQVVIS    701 - 770
SNLRDGVSHLIQSGGLGGLQHNTVLVGWPRNWRQKEDHQTWRNFIELVRETTAGHLALLVTKNVSMFPGN    771 - 840
PERFSEGSIDVWWIVHDGGMLMLLPFLLRHHKVWRKCKMRIFTVAQMDDNSIQMKKDLTTFLYHLRITAE    841 - 910
VEVVEMHESDISAYTYEKTLVMEQRSQILKQMHLTKNEREREIQSITDESRGSIRRKNPANTRLRLNVPE    911 - 980
ETAGDSEEKPEEEVQLIHDQSAPSCPSSSPSPGEEPEGEGETDPEKVHLTWTKDKSVAEKNKGPSPVSSE    981 - 1050
GIKDFFSMKPEWENLNQSNVRRMHTAVRLNEVIVKKSRDAKLVLLNMPGPPRNRNGDENYMEFLEVLTEH   1051 - 1120
LDRVMLVRGGGREVITIYS                                                      1121 - 1139
//

Text Mined References (46)

PMID Year Title
26733678 2016 KCC2 rescues functional deficits in human neurons derived from patients with Rett syndrome.
26528127 2015 Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia.
26333769 2015 Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
26126716 2015 WNK1-regulated inhibitory phosphorylation of the KCC2 cotransporter maintains the depolarizing action of GABA in immature neurons.
26056138 2015 KCC2 regulates actin dynamics in dendritic spines via interaction with ?-PIX.
25947013 2016 Increased expression of Solute carrier family 12 member 5 via gene amplification contributes to tumour progression and metastasis and associates with poor survival in colorectal cancer.
24928908 2014 Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.
24699064 2014 Discovery of biclonal origin and a novel oncogene SLC12A5 in colon cancer by single-cell sequencing.
24668262 2014 A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation.
24393035 2014 The WNK-regulated SPAK/OSR1 kinases directly phosphorylate and inhibit the K+-Cl- co-transporters.
More...