Property Summary

NCBI Gene PubMed Count 12
PubMed Score 2.35
PubTator Score 4.80

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (3)

Disease Target Count P-value
osteosarcoma 7933 3.0e-11
tuberculosis 1563 1.5e-05
psoriasis 6685 1.7e-04
Disease Target Count Z-score Confidence
Heart disease 279 0.0 2.0

Expression

  Differential Expression (3)

Disease log2 FC p
psoriasis 1.400 1.7e-04
osteosarcoma -3.203 3.0e-11
tuberculosis 1.100 1.5e-05

Protein-protein Interaction (4)

Gene RIF (2)

PMID Text
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).
20639392 Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)

AA Sequence

MASESSPLLAYRLLGEEGVALPANGAGGPGGASARKLSTFLGVVVPTVLSMFSIVVFLRIGFVVGHAGLL      1 - 70
QALAMLLVAYFILALTVLSVCAIATNGAVQGGGAYFMISRTLGPEVGGSIGLMFYLANVCGCAVSLLGLV     71 - 140
ESVLDVFGADATGPSGLRVLPQGYGWNLLYGSLLLGLVGGVCTLGAGLYARASFLTFLLVSGSLASVLIS    141 - 210
FVAVGPRDIRLTPRPGPNGSSLPPRFGHFTGFNSSTLKDNLGAGYAEDYTTGAVMNFASVFAVLFNGCTG    211 - 280
IMAGANMSGELKDPSRAIPLGTIVAVAYTFFVYVLLFFLSSFTCDRTLLQEDYGFFRAISLWPPLVLIGI    281 - 350
YATALSASMSSLIGASRILHALARDDLFGVILAPAKVVSRGGNPWAAVLYSWGLVQLVLLAGKLNTLAAV    351 - 420
VTVFYLVAYAAVDLSCLSLEWASAPNFRPTFSLFSWHTCLLGVASCLLMMFLISPGAAGGSLLLMGLLAA    421 - 490
LLTARGGPSSWGYVSQALLFHQVRKYLLRLDVRKDHVKFWRPQLLLLVGNPRGALPLLRLANQLKKGGLY    491 - 560
VLGHVTLGDLDSLPSDPVQPQYGAWLSLVDRAQVKAFVDLTLSPSVRQGAQHLLRISGLGGMKPNTLVLG    561 - 630
FYDDAPPQDHFLTDPAFSEPADSTREGSSPALSTLFPPPRAPGSPRALNPQDYVATVADALKMNKNVVLA    631 - 700
RASGALPPERLSRGSGGTSQLHHVDVWPLNLLRPRGGPGYVDVCGLFLLQMATILGMVPAWHSARLRIFL    701 - 770
CLGPREAPGAAEGRLRALLSQLRIRAEVQEVVWGEGAGAGEPEAEEEGDFVNSGRGDAEAEALARSANAL    771 - 840
VRAQQGRGTGGGPGGPEGGDAEGPITALTFLYLPRPPADPARYPRYLALLETLTRDLGPTLLVHGVTPVT    841 - 910
CTDL                                                                      911 - 914
//

Text Mined References (15)

PMID Year Title
23325410 2013 Physiology of SLC12 transporters: lessons from inherited human genetic mutations and genetically engineered mouse knockouts.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22990020 2012 Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation.
21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
20639392 2010 Genome-wide association analysis identifies multiple loci related to resting heart rate.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12853948 2003 The DNA sequence of human chromosome 7.
12690205 2003 Human chromosome 7: DNA sequence and biology.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11239002 2001 Comparative analysis of the gene-dense ACHE/TFR2 region on human chromosome 7q22 with the orthologous region on mouse chromosome 5.
11060040 2000 Human pre-mRNA cleavage factor II(m) contains homologs of yeast proteins and bridges two other cleavage factors.
10871601 2000 Cloning and functional characterization of a cation-Cl- cotransporter-interacting protein.