Property Summary

NCBI Gene PubMed Count 9
PubMed Score 5.04
PubTator Score 7.77

Knowledge Summary

Patent

No data available

Expression

Gene RIF (5)

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).
19472210 Molecular characterization of a human cation-Cl- cotransporter (SLC12A8A, CCC9A) that promotes polyamine and amino acid transport.
16297188 Observational study of gene-disease association. (HuGE Navigator)
16297188 SLC12A8 is a susceptibility locus for psoriasis vulgaris.
11863360 Maps to 3q21. Associated with suseptibility to psoriasis

AA Sequence

MTQMSQVQELFHEAAQQDALAQPQPWWKTQLFMWEPVLFGTWDGVFTSCMINIFGVVLFLRTGWLVGNTG      1 - 70
VLLGMFLVSFVILVALVTVLSGIGVGERSSIGSGGVYSMISSVLGGQTGGTIGLLYVFGQCVAGAMYITG     71 - 140
FAESISDLLGLGNIWAVRGISVAVLLALLGINLAGVKWIIRLQLLLLFLLAVSTLDFVVGSFTHLDPEHG    141 - 210
FIGYSPELLQNNTLPDYSPGESFFTVFGVFFPAATGVMAGFNMGGDLREPAASIPLGSLAAVGISWFLYI    211 - 280
IFVFLLGAICTREALRYDFLIAEKVSLMGFLFLLGLYISSLASCMGGLYGAPRILQCIAQEKVIPALACL    281 - 350
GQGKGPNKTPVAAICLTSLVTMAFVFVGQVNVLAPIVTINFMLTYVAVDYSYFSLSMCSCSLTPVPEPVL    351 - 420
REGAEGLHCSEHLLLEKAPSYGSEGPAQRVLEGTLLEFTKDMDQLLQLTRKLESSQPRQGEGNRTPESQK    421 - 490
RKSKKATKQTLQDSFLLDLKSPPSFPVEISDRLPAASWEGQESCWNKQTSKSEGTQPEGTYGEQLVPELC    491 - 560
NQSESSGEDFFLKSRLQEQDVWRRSTSFYTHMCNPWVSLLGAVGSLLIMFVIQWVYTLVNMGVAAIVYFY    561 - 630
IGRASPGLHLGSASNFSFFRWMRSLLLPSCRSLRSPQEQIILAPSLAKVDMEMTQLTQENADFATRDRYH    631 - 700
HSSLVNREQLMPHY                                                            701 - 714
//

Text Mined References (13)

PMID Year Title
23325410 2013 Physiology of SLC12 transporters: lessons from inherited human genetic mutations and genetically engineered mouse knockouts.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19472210 2009 Molecular characterization of a human cation-Cl- cotransporter (SLC12A8A, CCC9A) that promotes polyamine and amino acid transport.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16297188 2005 Systematic linkage disequilibrium analysis of SLC12A8 at PSORS5 confirms a role in susceptibility to psoriasis vulgaris.
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.
12739168 2004 Molecular physiology of cation-coupled Cl- cotransport: the SLC12 family.
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