Property Summary

NCBI Gene PubMed Count 32
Grant Count 16
R01 Count 9
Funding $865,788.12
PubMed Score 52.49
PubTator Score 39.03

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
malignant mesothelioma -1.500 0.000
esophageal adenocarcinoma -1.100 0.020
osteosarcoma -1.832 0.000
spina bifida -1.328 0.035
ovarian cancer -1.400 0.000

Gene RIF (21)

PMID Text
25110711 These results suggest that the expression of KCC3 in ESCC may affect cellular invasion and be related to a worse prognosis in patients with ESCC.
24655550 SPAK may promote KCC3-mediated cervix tumor aggressiveness via the NF-kappaB/p38 MAPK/MMP2 axis.
24341143 SLC12A6 has been shown to be causative in Andermann Syndrome.
24043619 serine residue 96 of human KCC3 is a third site that has to be dephosphorylated for full activation of the cotransporter during hypotonicity.
22423107 Neuropathic features of hereditary motor and sensory neuropathy/agenesis of corpus callosum in transgenic mouse lines are predominantly due to a neuronal KCC3 deficit, while the auditory impairment is due to loss of non-neuronal KCC3 expression.
21733850 KCC3 is the dominant isoform in erythrocytes, with variable expression of KCC1 and KCC4 that could result in modulation of KCC activity
21628467 mis-trafficking of mutant protein is an important pathophysiological feature of HMSN/ACC causative KCC3 mutations.
21613606 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.
20020398 mutations of the KCC3 gene may result in non-syndromic childhood onset of demyelinating hereditary motor and sensory neuropathy
19665974 Study identified two sites in KCC3 that are rapidly dephosphorylated in hypotonic conditions in cultured cells and human red blood cells in parallel with increased transport activity.
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AA Sequence

MHPPETTTKMASVRFMVTPTKIDDIPGLSDTSPDLSSRSSSRVRFSSRESVPETSRSEPMSEMSGATTSL      1 - 70
ATVALDPPSDRTSHPQDVIEDLSQNSITGEHSQLLDDGHKKARNAYLNNSNYEEGDEYFDKNLALFEEEM     71 - 140
DTRPKVSSLLNRMANYTNLTQGAKEHEEAENITEGKKKPTKTPQMGTFMGVYLPCLQNIFGVILFLRLTW    141 - 210
VVGTAGVLQAFAIVLICCCCTMLTAISMSAIATNGVVPAGGSYFMISRALGPEFGGAVGLCFYLGTTFAA    211 - 280
AMYILGAIEIFLVYIVPRAAIFHSDDALKESAAMLNNMRVYGTAFLVLMVLVVFIGVRYVNKFASLFLAC    281 - 350
VIVSILAIYAGAIKSSFAPPHFPVCMLGNRTLSSRHIDVCSKTKEINNMTVPSKLWGFFCNSSQFFNATC    351 - 420
DEYFVHNNVTSIQGIPGLASGIITENLWSNYLPKGEIIEKPSAKSSDVLGSLNHEYVLVDITTSFTLLVG    421 - 490
IFFPSVTGIMAGSNRSGDLKDAQKSIPIGTILAILTTSFVYLSNVVLFGACIEGVVLRDKFGDAVKGNLV    491 - 560
VGTLSWPSPWVIVIGSFFSTCGAGLQSLTGAPRLLQAIAKDNIIPFLRVFGHSKANGEPTWALLLTAAIA    561 - 630
ELGILIASLDLVAPILSMFFLMCYLFVNLACALQTLLRTPNWRPRFRYYHWALSFMGMSICLALMFISSW    631 - 700
YYAIVAMVIAGMIYKYIEYQGAEKEWGDGIRGLSLSAARFALLRLEEGPPHTKNWRPQLLVLLKLDEDLH    701 - 770
VKHPRLLTFASQLKAGKGLTIVGSVIVGNFLENYGEALAAEQTIKHLMEAEKVKGFCQLVVAAKLREGIS    771 - 840
HLIQSCGLGGMKHNTVVMGWPNGWRQSEDARAWKTFIGTVRVTTAAHLALLVAKNISFFPSNVEQFSEGN    841 - 910
IDVWWIVHDGGMLMLLPFLLKQHKVWRKCSIRIFTVAQLEDNSIQMKKDLATFLYHLRIEAEVEVVEMHD    911 - 980
SDISAYTYERTLMMEQRSQMLRHMRLSKTERDREAQLVKDRNSMLRLTSIGSDEDEETETYQEKVHMTWT    981 - 1050
KDKYMASRGQKAKSMEGFQDLLNMRPDQSNVRRMHTAVKLNEVIVNKSHEAKLVLLNMPGPPRNPEGDEN   1051 - 1120
YMEFLEVLTEGLERVLLVRGGGSEVITIYS                                           1121 - 1150
//

Text Mined References (38)

PMID Year Title
25110711 2014 The K-Cl cotransporter KCC3 as an independent prognostic factor in human esophageal squamous cell carcinoma.
24655550 2014 SPAK mediates KCC3-enhanced cervical cancer tumorigenesis.
24393035 2014 The WNK-regulated SPAK/OSR1 kinases directly phosphorylate and inhibit the K+-Cl- co-transporters.
24341143 2013 A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity?
24043619 2013 N-terminal serine dephosphorylation is required for KCC3 cotransporter full activation by cell swelling.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22423107 2012 Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum.
21733850 2011 K-Cl cotransporter gene expression during human and murine erythroid differentiation.
21628467 2011 Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum.
21613606 2011 Similar effects of all WNK3 variants on SLC12 cotransporters.
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