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    SLC12A6 solute carrier family 12 member 6 [ Homo sapiens (human) ]

    Gene ID: 9990, updated on 10-Sep-2016

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    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.

    The K-Cl cotransporter KCC3 as an independent prognostic factor in human esophageal squamous cell carcinoma.
    Shiozaki A, Takemoto K, Ichikawa D, Fujiwara H, Konishi H, Kosuga T, Komatsu S, Okamoto K, Kishimoto M, Marunaka Y, Otsuji E., Free PMC Article

    04/11/2015
    SPAK may promote KCC3-mediated cervix tumor aggressiveness via the NF-kappaB/p38 MAPK/MMP2 axis.

    SPAK mediates KCC3-enhanced cervical cancer tumorigenesis.
    Chiu MH, Liu HS, Wu YH, Shen MR, Chou CY.

    08/16/2014
    SLC12A6 has been shown to be causative in Andermann Syndrome.

    A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity?
    Degerliyurt A, Akgumus G, Caglar C, Bilguvar K, Caglayan AO.

    01/18/2014
    serine residue 96 of human KCC3 is a third site that has to be dephosphorylated for full activation of the cotransporter during hypotonicity.

    N-terminal serine dephosphorylation is required for KCC3 cotransporter full activation by cell swelling.
    Melo Z, de los Heros P, Cruz-Rangel S, Vázquez N, Bobadilla NA, Pasantes-Morales H, Alessi DR, Mercado A, Gamba G., Free PMC Article

    01/4/2014
    mis-trafficking of mutant protein is an important pathophysiological feature of HMSN/ACC causative KCC3 mutations.

    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.
    Salin-Cantegrel A, Rivière JB, Shekarabi M, Rasheed S, Dacal S, Laganière J, Gaudet R, Rochefort D, Lesca G, Gaspar C, Dion PA, Lapointe JY, Rouleau GA., Free PMC Article

    05/12/2012
    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.

    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.
    Shekarabi M, Moldrich RX, Rasheed S, Salin-Cantegrel A, Laganière J, Rochefort D, Hince P, Huot K, Gaudet R, Kurniawan N, Sotocinal SG, Ritchie J, Dion PA, Mogil JS, Richards LJ, Rouleau GA.

    05/5/2012
    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.

    Similar effects of all WNK3 variants on SLC12 cotransporters.
    Cruz-Rangel S, Melo Z, Vázquez N, Meade P, Bobadilla NA, Pasantes-Morales H, Gamba G, Mercado A.

    01/7/2012
    KCC3 is the dominant isoform in erythrocytes, with variable expression of KCC1 and KCC4 that could result in modulation of KCC activity

    K-Cl cotransporter gene expression during human and murine erythroid differentiation.
    Pan D, Kalfa TA, Wang D, Risinger M, Crable S, Ottlinger A, Chandra S, Mount DB, Hübner CA, Franco RS, Joiner CH., Free PMC Article

    10/29/2011
    mutations of the KCC3 gene may result in non-syndromic childhood onset of demyelinating hereditary motor and sensory neuropathy

    Andermann syndrome can be a phenocopy of hereditary motor and sensory neuropathy--report of a discordant sibship with a compound heterozygous mutation of the KCC3 gene.
    Rudnik-Schöneborn S, Hehr U, von Kalle T, Bornemann A, Winkler J, Zerres K.

    05/3/2010
    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.

    Sites of regulated phosphorylation that control K-Cl cotransporter activity.
    Rinehart J, Maksimova YD, Tanis JE, Stone KL, Hodson CA, Zhang J, Risinger M, Pan W, Wu D, Colangelo CM, Forbush B, Joiner CH, Gulcicek EE, Gallagher PG, Lifton RP., Free PMC Article

    01/21/2010
    study provides evidence that the upstream SLC12A6 G/A promoter SNP is functional not only by changing the DNA primary structure but also by influencing the allelic epigenotype and consequently by influencing the chromatin organization

    Functional analysis of a potassium-chloride co-transporter 3 (SLC12A6) promoter polymorphism leading to an additional DNA methylation site.
    Moser D, Ekawardhani S, Kumsta R, Palmason H, Bock C, Athanassiadou Z, Lesch KP, Meyer J.

    01/21/2010
    Using a yeast 2-hybrid it was discovered that the C-terminal domain of KCC3, that is lost in most hereditary motor and sensory neuropathy with agenesis of the corpus callosum-causing mutations, directly interacts with brain-specific creatine kinase.

    HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3.
    Salin-Cantegrel A, Shekarabi M, Holbert S, Dion P, Rochefort D, Laganière J, Dacal S, Hince P, Karemera L, Gaspar C, Lapointe JY, Rouleau GA.

    01/21/2010
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (2) articles

    A common variant in DRD3 receptor is associated with autism spectrum disorder.
    de Krom M, Staal WG, Ophoff RA, Hendriks J, Buitelaar J, Franke B, de Jonge MV, Bolton P, Collier D, Curran S, van Engeland H, van Ree JM.

    Rare variants of the gene encoding the potassium chloride co-transporter 3 are associated with bipolar disorder.
    Meyer J, Johannssen K, Freitag CM, Schraut K, Teuber I, Hahner A, Mainhardt C, Mössner R, Volz HP, Wienker TF, McKeane D, Stephan DA, Rouleau G, Reif A, Lesch KP.

    03/13/2008
    KCC3 down-regulates E-cadherin/beta-catenin complex formation by inhibiting transcription of E-cadherin gene and accelerating proteosome-dependent degradation of beta-catenin protein

    KCl cotransporter-3 down-regulates E-cadherin/beta-catenin complex to promote epithelial-mesenchymal transition.
    Hsu YM, Chen YF, Chou CY, Tang MJ, Chen JH, Wilkins RJ, Ellory JC, Shen MR.

    01/21/2010
    KCC3 mutations in exon 22 constitute a recurrent mutation site for hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), regardless of ethnic origin.

    Distal truncation of KCC3 in non-French Canadian HMSN/ACC families.
    Salin-Cantegrel A, Rivière JB, Dupré N, Charron FM, Shekarabi M, Karéméra L, Gaspar C, Horst J, Tekin M, Deda G, Krause A, Lippert MM, Willemsen MA, Jarrar R, Lapointe JY, Rouleau GA.

    01/21/2010
    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.

    Influence of K-Cl cotransporter activity on activation of volume-sensitive Cl- channels in human osteoblasts.
    Bräuer M, Frei E, Claes L, Grissmer S, Jäger H.

    01/21/2010
    Not only truncating but also missense mutations of the KCC3 gene are associated with Andermann syndrome.

    Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome.
    Uyanik G, Elcioglu N, Penzien J, Gross C, Yilmaz Y, Olmez A, Demir E, Wahl D, Scheglmann K, Winner B, Bogdahn U, Topaloglu H, Hehr U, Winkler J.

    01/21/2010
    KCC activation by IGF-1 plays an important role in IGF-1 signaling to promote growth and spread of gynecological cancers.

    Insulin-like growth factor 1 stimulates KCl cotransport, which is necessary for invasion and proliferation of cervical cancer and ovarian cancer cells.
    Shen MR, Lin AC, Hsu YM, Chang TJ, Tang MJ, Alper SL, Ellory JC, Chou CY.

    01/21/2010
    all of the CCCs examined (NKCC1, NKCC2, KCC1, KCC3, and KCC4) can promote NH4(+) translocation, presumably through binding of the ion at the K(+) site

    Ammonium transport and pH regulation by K(+)-Cl(-) cotransporters.
    Bergeron MJ, Gagnon E, Wallendorff B, Lapointe JY, Isenring P.

    01/21/2010
    Among patients with early-stage node-negative breast cancer, disease-free survival (DFS) and overall survival (OS) curves were significantly different based on IGF-1 and KCC expression.

    IGF-1 upregulates electroneutral K-Cl cotransporter KCC3 and KCC4 which are differentially required for breast cancer cell proliferation and invasiveness.
    Hsu YM, Chou CY, Chen HH, Lee WY, Chen YF, Lin PW, Alper SL, Ellory JC, Shen MR.

    01/21/2010
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