Property Summary

NCBI Gene PubMed Count 28
Grant Count 3
Funding $73,658.75
PubMed Score 18.71
PubTator Score 17.66

Knowledge Summary

Patent (42,817)

Expression

  Differential Expression (6)

Disease log2 FC p
malignant mesothelioma 1.800 0.000
ependymoma -1.200 0.018
atypical teratoid / rhabdoid tumor -1.200 0.000
glioblastoma -1.100 0.001
medulloblastoma, large-cell -1.600 0.000
adult high grade glioma -1.200 0.000

Gene RIF (11)

PMID Text
26658788 These findings implicate the effect of rare coding variants in CLCN6 in Blood Pressure variation and offer new insights into Blood Pressure regulation.
25794116 A non-synonymous single nucleotide variation (SNV) was identified in the voltage-sensitive chloride channel 6 gene.
21060006 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20466723 late endosomal ClC-6 mediates proton/chloride countertransport in heterologous plasma membrane expression
20416077 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19898482 Observational study of gene-disease association. (HuGE Navigator)
19729601 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MAGCRGSLCCCCRWCCCCGERETRTPEELTILGETQEEEDEILPRKDYESLDYDRCINDPYLEVLETMDN      1 - 70
KKGRRYEAVKWMVVFAIGVCTGLVGLFVDFFVRLFTQLKFGVVQTSVEECSQKGCLALSLLELLGFNLTF     71 - 140
VFLASLLVLIEPVAAGSGIPEVKCYLNGVKVPGIVRLRTLLCKVLGVLFSVAGGLFVEKEGPMIHSGSVV    141 - 210
GAGLPQFQSISLRKIQFNFPYFRSDRDKRDFVSAGAAAGVAAAFGAPIGGTLFSLEEGSSFWNQGLTWKV    211 - 280
LFCSMSATFTLNFFRSGIQFGSWGSFQLPGLLNFGEFKCSDSDKKCHLWTAMDLGFFVVMGVIGGLLGAT    281 - 350
FNCLNKRLAKYRMRNVHPKPKLVRVLESLLVSLVTTVVVFVASMVLGECRQMSSSSQIGNDSFQLQVTED    351 - 420
VNSSIKTFFCPNDTYNDMATLFFNPQESAILQLFHQDGTFSPVTLALFFVLYFLLACWTYGISVPSGLFV    421 - 490
PSLLCGAAFGRLVANVLKSYIGLGHIYSGTFALIGAAAFLGGVVRMTISLTVILIESTNEITYGLPIMVT    491 - 560
LMVAKWTGDFFNKGIYDIHVGLRGVPLLEWETEVEMDKLRASDIMEPNLTYVYPHTRIQSLVSILRTTVH    561 - 630
HAFPVVTENRGNEKEFMKGNQLISNNIKFKKSSILTRAGEQRKRSQSMKSYPSSELRNMCDEHIASEEPA    631 - 700
EKEDLLQQMLERRYTPYPNLYPDQSPSEDWTMEERFRPLTFHGLILRSQLVTLLVRGVCYSESQSSASQP    701 - 770
RLSYAEMAEDYPRYPDIHDLDLTLLNPRMIVDVTPYMNPSPFTVSPNTHVSQVFNLFRTMGLRHLPVVNA    771 - 840
VGEIVGIITRHNLTYEFLQARLRQHYQTI                                             841 - 869
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Text Mined References (29)

PMID Year Title
26658788 2016 Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk.
25794116 2015 Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures.
21273288 2011 Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster.
21060006 2010 Genetic architecture of ambulatory blood pressure in the general population: insights from cardiovascular gene-centric array.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20466723 2010 The late endosomal ClC-6 mediates proton/chloride countertransport in heterologous plasma membrane expression.
20416077 2010 Identification of type 2 diabetes-associated combination of SNPs using support vector machine.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19898482 2009 Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy.
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