Property Summary

NCBI Gene PubMed Count 25
PubMed Score 53.78
PubTator Score 33.38

Knowledge Summary

Patent (2,662)

Gene RIF (13)

PMID Text
25921210 Kir7.1 mutations are associated with vision disorders to include novel insights into the molecular mechanism of disease pathobiology in Leber Congenital Amaurosis.
25475713 Juvenile or early-adult-onset cataract in the setting of a congenital vitreo-retinal dystrophy notable for fibrosis over the disc and clumped pigmentation in the posterior pole is a unique phenotype that suggests recessive KCNJ13 mutations.
25056913 Kir7.1 regulates the transition from quiescence to contractions in the pregnant uterus.
24667918 Microarray analysis indicates HIV-1 Tat-induced downregulation of potassium inwardly-rectifying channel, subfamily J, member 13 (KCNJ13) in primary human brain microvascular endothelial cells
23977131 Kir7.1, R162W mutant showed a reduction of IKir7.1 and positive shift in '0' current potential.
22706862 Kir7.1 expression was found in 100% of choroid plexus tumors and was absent in endolymphatic sac tumors.
21763485 A homozygous nonsense mutation was found in the potassium channel subunit gene KCNJ13 that caused leber congenital amaurosis.
19460752 Knockdown of potassium inwardly-rectifying channel, subfamily J, member 13 (KCNJ13; KIR7.1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells
19240061 Observational study of gene-disease association. (HuGE Navigator)
18976636 This study demonstrates the dual regulation of Kir7.1 channel function by PKA and PKC.
18179896 These results indicate that the KCNJ13 R162W mutation can cause Snowflake vitreoretinal degeneration and further show that vitreoretinal degeneration can arise through mutations in genes whose products are not structural components of the vitreous.
18094146 Kir7.1 channels are modulated by intracellular protons by diverse mechanisms; H26 is important for channel activation at physiological pH(i) and it influences an unidentified proton-induced inhibitory mechanism.
18035352 This study confirms the expression of Kir7.1 in human RPE, identifies a Kir7.1 splice variant resulting in predicted changes in protein sequence, and indicates that there is no functional interaction between this splice variant and full-length Kir7.1.

AA Sequence

MDSSNCKVIAPLLSQRYRRMVTKDGHSTLQMDGAQRGLAYLRDAWGILMDMRWRWMMLVFSASFVVHWLV      1 - 70
FAVLWYVLAEMNGDLELDHDAPPENHTICVKYITSFTAAFSFSLETQLTIGYGTMFPSGDCPSAIALLAI     71 - 140
QMLLGLMLEAFITGAFVAKIARPKNRAFSIRFTDTAVVAHMDGKPNLIFQVANTRPSPLTSVRVSAVLYQ    141 - 210
ERENGKLYQTSVDFHLDGISSDECPFFIFPLTYYHSITPSSPLATLLQHENPSHFELVVFLSAMQEGTGE    211 - 280
ICQRRTSYLPSEIMLHHCFASLLTRGSKGEYQIKMENFDKTVPEFPTPLVSKSPNRTDLDIHINGQSIDN    281 - 350
FQISETGLTE                                                                351 - 360
//

Text Mined References (26)

PMID Year Title
25921210 2015 A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16).
25475713 2015 A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations.
25056913 2014 The inwardly rectifying K+ channel KIR7.1 controls uterine excitability throughout pregnancy.
25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
23977131 2013 Snowflake vitreoretinal degeneration (SVD) mutation R162W provides new insights into Kir7.1 ion channel structure and function.
23974872 2013 Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
22706862 2012 Diagnostic value of EAAT-1 and Kir7.1 for distinguishing endolymphatic sac tumors from choroid plexus tumors.
21763485 2011 Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.
19240061 2009 Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
18976636 2008 Dual regulation of renal Kir7.1 potassium channels by protein Kinase A and protein Kinase C.
18391953 2008 Rare independent mutations in renal salt handling genes contribute to blood pressure variation.
18179896 2008 Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration.
18094146 2008 Modulation of the Kir7.1 potassium channel by extracellular and intracellular pH.
18035352 2008 Expression of Kir7.1 and a novel Kir7.1 splice variant in native human retinal pigment epithelium.
16382105 2005 International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15557460 2004 Genetic linkage of snowflake vitreoretinal degeneration to chromosome 2q36.
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.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10455019 1999 Inwardly rectifying K+ channel Kir7.1 is highly expressed in thyroid follicular cells, intestinal epithelial cells and choroid plexus epithelial cells: implication for a functional coupling with Na+,K+-ATPase.
9878260 1998 Partial gene structure and assignment to chromosome 2q37 of the human inwardly rectifying K+ channel (Kir7.1) gene (KCNJ13).
9786970 1998 The epithelial inward rectifier channel Kir7.1 displays unusual K+ permeation properties.
9738472 1998 Cloning and characterization of a novel human inwardly rectifying potassium channel predominantly expressed in small intestine.
9620703 1998 A novel inward rectifier K+ channel with unique pore properties.