Property Summary

NCBI Gene PubMed Count 51
Grant Count 213
R01 Count 172
Funding $26,030,939.99
PubMed Score 296.43
PubTator Score 178.48

Knowledge Summary

Patent (6,980)

Expression

  Differential Expression (5)

Disease log2 FC p
nephrosclerosis -1.527 0.036
medulloblastoma, large-cell 1.600 0.001
adult high grade glioma 1.100 0.021
ovarian cancer 1.300 0.000
psoriasis -1.500 0.000

Synonym

Accession P48048 B2RMR4 Q6LD67
Symbols ROMK
ROMK1
KIR1.1

Gene

MLP Assay (7)

AID Type Active / Inconclusive / Inactive Description
1916 confirmatory 11 / 0 / 7 High throughput discovery of novel modulators of ROMK K+ channel activity: Analog Dose-Response
1917 other 1623 / 308 / 1102 High throughput discovery of novel modulators of ROMK K+ channel activity: Retest of Primary Hits
1918 screening 2464 / 0 / 122832 High throughput discovery of novel modulators of ROMK K+ channel activity: Primary Screen
2404 confirmatory 1 / 0 / 0 Manual electrophysiological patch clamp assay and ROMK specificity of compounds that inhibit/block inward-rectifying potassium ion channel Kir2.1
2436 summary 0 / 0 / 0 High-throughput Discovery of Novel Modulators of ROMK K+ Channel Activity
2753 confirmatory 114 / 0 / 127 High throughput discovery of novel modulators of ROMK K+ channel activity: Dose-Response Assay
435017 confirmatory 3 / 0 / 14 High throughput discovery of novel modulators of ROMK K+ channel activity: Analog Library Testing

Gene RIF (36)

PMID Text
25805816 WNK4 is a substrate of SFKs and the association of c-Src and PTP-1D with WNK4 at Tyr(1092) and Tyr(1143) plays an important role in modulating the inhibitory effect of WNK4 on ROMK
25344677 knockdown of KCNJ1 in HK-2 cells promoted cell proliferation. Collectively, these data highlight that KCNJ1, low-expressed in ccRCC and associated with poor prognosis, plays an important role in ccRCC cell growth and metastasis
25165391 The association between polymorphisms in KCNJ1, SLC12A1, and 7 other genes and calcium intake and colorectal neoplasia risk was studied.
23782368 Molecular analysis revealed a compound heterozygous mutation in the KCNJ1 gene, consisting of a novel K76E and an already described V315G mutation, both affecting functional domains of the channel protein.
23211697 Findings suggest that 11q24 is a susceptible locus for openness, with KCNJ1 as the possible candidate gene.
22907731 A KCNJ1 SNP was associated with increased FG during HCTZ treatment.
21631963 no mutation in the KCNJ1 gene, among patients suffering from bartter and Gitelman syndromes
21355052 PI3K-activating hormones inhibit ROMK by enhancing its endocytosis via a mechanism that involves phosphorylation of WNK1 by Akt1 and SGK1.
21081491 THGP modulation of ROMK function confers a new role of THGP on renal ion transport and may contribute to salt wasting observed in FJHN/MCKD-2/GCKD patients.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
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AA Sequence

MNASSRNVFDTLIRVLTESMFKHLRKWVVTRFFGHSRQRARLVSKDGRCNIEFGNVEAQSRFIFFVDIWT      1 - 70
TVLDLKWRYKMTIFITAFLGSWFFFGLLWYAVAYIHKDLPEFHPSANHTPCVENINGLTSAFLFSLETQV     71 - 140
TIGYGFRCVTEQCATAIFLLIFQSILGVIINSFMCGAILAKISRPKKRAKTITFSKNAVISKRGGKLCLL    141 - 210
IRVANLRKSLLIGSHIYGKLLKTTVTPEGETIILDQININFVVDAGNENLFFISPLTIYHVIDHNSPFFH    211 - 280
MAAETLLQQDFELVVFLDGTVESTSATCQVRTSYVPEEVLWGYRFAPIVSKTKEGKYRVDFHNFSKTVEV    281 - 350
ETPHCAMCLYNEKDVRARMKRGYDNPNFILSEVNETDDTKM                                 351 - 391
//

Text Mined References (55)

PMID Year Title
25805816 2015 Src-family protein tyrosine kinase phosphorylates WNK4 and modulates its inhibitory effect on KCNJ1 (ROMK).
25344677 2015 KCNJ1 inhibits tumor proliferation and metastasis and is a prognostic factor in clear cell renal cell carcinoma.
25165391 2014 Calcium intake and ion transporter genetic polymorphisms interact in human colorectal neoplasia risk in a 2-phase study.
23782368 2013 Expanding the spectrum of genetic mutations in antenatal Bartter syndrome type II.
23211697 2013 Refining genome-wide linkage intervals using a meta-analysis of genome-wide association studies identifies loci influencing personality dimensions.
22907731 2013 Association of KCNJ1 variation with change in fasting glucose and new onset diabetes during HCTZ treatment.
21631963 2011 DNA analysis of renal electrolyte transporter genes among patients suffering from Bartter and Gitelman syndromes: summary of mutation screening.
21355052 2011 Activation of PI3-kinase stimulates endocytosis of ROMK via Akt1/SGK1-dependent phosphorylation of WNK1.
21081491 2011 Tamm-Horsfall glycoprotein interacts with renal outer medullary potassium channel ROMK2 and regulates its function.
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.
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