Property Summary

NCBI Gene PubMed Count 53
Grant Count 90
R01 Count 44
Funding $7,219,275.86
PubMed Score 171.48
PubTator Score 293.89

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
astrocytic glioma -1.100 0.024
posterior fossa group B ependymoma 1.700 0.000
non primary Sjogren syndrome sicca -1.100 0.026
pituitary cancer 2.600 0.000

Synonym

Accession Q13621 A8JYA2 E9PDW4
Symbols BSC1
NKCC2

Gene

Gene RIF (38)

PMID Text
25741940 Mutations in SLC12A1 gene is associated with Bartter syndrome.
25422309 Low SLC12A1 urine levels were associated with Bartter syndrome.
25165391 The association between polymorphisms in KCNJ1, SLC12A1, and 7 other genes and calcium intake and colorectal neoplasia risk was studied.
24970686 Urinary NKCC2 increased in chronic kidney disease patients and decreased in controls in response to hypertonic saline.
24251329 overexpression of mammalian plasma-membrane Na+-K+-2Cl- co-transporter NKCC2 in yeast cells complements the phenotypes resulting from the deletion of the VHC1 gene.
23325410 Review summarizes three human disorders that have been linked to the mutation/dysfunction of Na-Cl, Na-K-2Cl, and K-Cl cotransporters (Bartter's, Gitleman's, and Andermann's syndromes).
22989884 Data show that intracellular association between WNK1 and oxidative stress-responsive 1 (OSR1) is required for stimulation of OSR1 and Na(+), K(+), Cl(-)-Cotransporter NKCC1 and NKCC2 activities by osmotic stress.
22388656 NKCC1 and NKCC2 were expressed in the gastric mucosa of rat, mouse and human.
22211456 NKCC2 mutations result in impaired apical targeting and function of NKCC2 transporter and give rise to a pathological phenotype known as type I Bartter syndrome. (Review)
21867980 NKCC2 is expressed widely in the colonic epithelium in thecolon, especially in the apical membrane. It involves the process of colonic Cl(-) absorption coupled with HCO(3)(-) secretion.
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AA Sequence

MSLNNSSNVFLDSVPSNTNRFQVSVINENHESSAAADDNTDPPHYEETSFGDEAQKRLRISFRPGNQECY      1 - 70
DNFLQSGETAKTDASFHAYDSHTNTYYLQTFGHNTMDAVPKIEYYRNTGSISGPKVNRPSLLEIHEQLAK     71 - 140
NVAVTPSSADRVANGDGIPGDEQAENKEDDQAGVVKFGWVKGVLVRCMLNIWGVMLFIRLSWIVGEAGIG    141 - 210
LGVLIILLSTMVTSITGLSTSAIATNGFVRGGGAYYLISRSLGPEFGGSIGLIFAFANAVAVAMYVVGFA    211 - 280
ETVVDLLKESDSMMVDPTNDIRIIGSITVVILLGISVAGMEWEAKAQVILLVILLIAIANFFIGTVIPSN    281 - 350
NEKKSRGFFNYQASIFAENFGPRFTKGEGFFSVFAIFFPAATGILAGANISGDLEDPQDAIPRGTMLAIF    351 - 420
ITTVAYLGVAICVGACVVRDATGNMNDTIISGMNCNGSAACGLGYDFSRCRHEPCQYGLMNNFQVMSMVS    421 - 490
GFGPLITAGIFSATLSSALASLVSAPKVFQALCKDNIYKALQFFAKGYGKNNEPLRGYILTFLIAMAFIL    491 - 560
IAELNTIAPIISNFFLASYALINFSCFHASYAKSPGWRPAYGIYNMWVSLFGAVLCCAVMFVINWWAAVI    561 - 630
TYVIEFFLYVYVTCKKPDVNWGSSTQALSYVSALDNALELTTVEDHVKNFRPQCIVLTGGPMTRPALLDI    631 - 700
THAFTKNSGLCICCEVFVGPRKLCVKEMNSGMAKKQAWLIKNKIKAFYAAVAADCFRDGVRSLLQASGLG    701 - 770
RMKPNTLVIGYKKNWRKAPLTEIENYVGIIHDAFDFEIGVVIVRISQGFDISQVLQVQEELERLEQERLA    771 - 840
LEATIKDNECEEESGGIRGLFKKAGKLNITKTTPKKDGSINTSQSMHVGEFNQKLVEASTQFKKKQEKGT    841 - 910
IDVWWLFDDGGLTLLIPYILTLRKKWKDCKLRIYVGGKINRIEEEKIVMASLLSKFRIKFADIHIIGDIN    911 - 980
IRPNKESWKVFEEMIEPYRLHESCKDLTTAEKLKRETPWKITDAELEAVKEKSYRQVRLNELLQEHSRAA    981 - 1050
NLIVLSLPVARKGSISDLLYMAWLEILTKNLPPVLLVRGNHKNVLTFYS                        1051 - 1099
//

Publication (54)

PMID Year Title
25741940 2015 Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review.
25422309 2015 Urinary exosomes in the diagnosis of Gitelman and Bartter syndromes.
25165391 2014 Calcium intake and ion transporter genetic polymorphisms interact in human colorectal neoplasia risk in a 2-phase study.
24970686 2014 Abnormal urinary excretion of NKCC2 and AQP2 in response to hypertonic saline in chronic kidney disease: an intervention study in patients with chronic kidney disease and healthy controls.
24251329 2013 Human NKCC2 cation–Cl– co-transporter complements lack of Vhc1 transporter in yeast vacuolar membranes.
23934736 2013 Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23325410 2013 Physiology of SLC12 transporters: lessons from inherited human genetic mutations and genetically engineered mouse knockouts.
22989884 2012 Interactions with WNK (with no lysine) family members regulate oxidative stress response 1 and ion co-transporter activity.
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