RPS6KA2-IT1 Gene

Name RPS6KA2 intronic transcript 1
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nThe two provided studies focus on the molecular regulation of inhibitory synapse formation, with extensive characterization of the transmembrane protein LHFPL4 (also known as GARLH4) that is essential for the clustering and stabilization of GABAA receptors at inhibitory postsynaptic sites. In one study, LHFPL4 was shown to interact directly with GABAAR subunits and gephyrin to ensure proper synaptic localization of inhibitory receptors in hippocampal pyramidal neurons; its loss leads to a drastic reduction in receptor clustering and a marked impairment of fast inhibitory postsynaptic currents."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn a complementary study, LHFPL4 was identified as a critical binding partner for Neuroligin-2, a junctional protein that initiates inhibitory synapse formation in the cerebellum. Disruption of LHFPL4/GARLH4 in mice results in severe deficits in inhibitory synapse assembly, contributing to notable motor behavioral abnormalities and premature lethality."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIt is important to note that neither study provides any information regarding the function of RPS6KA2-IT1. While both abstracts elucidate key mechanisms by which LHFPL4 regulates inhibitory synapse function, they do not address or implicate RPS6KA2-IT1 in these processes. Further research will be required to determine if and how RPS6KA2-IT1 may be involved in synaptic regulation or other neuronal functions.\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Elizabeth C Davenport, Valentina Pendolino, Georgina Kontou, et al. "}, {"type": "b", "children": [{"type": "t", "text": "An Essential Role for the Tetraspanin LHFPL4 in the Cell-Type-Specific Targeting and Clustering of Synaptic GABA"}, {"type": "a", "children": [{"type": "t", "text": "sub"}], "href": "sub"}, {"type": "t", "text": "A"}, {"type": "a", "children": [{"type": "t", "text": "/sub"}], "href": "/sub"}, {"type": "t", "text": " Receptors."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Rep (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.celrep.2017.09.025"}], "href": "https://doi.org/10.1016/j.celrep.2017.09.025"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28978485"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28978485"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Min Wu, Hong-Lei Tian, Xiaobo Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Impairment of Inhibitory Synapse Formation and Motor Behavior in Mice Lacking the NL2 Binding Partner LHFPL4/GARLH4."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Rep (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.celrep.2018.04.015"}], "href": "https://doi.org/10.1016/j.celrep.2018.04.015"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29742426"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29742426"}]}]}]}
NCBI Gene ID 100874353
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Predicted Functions View RPS6KA2-IT1's ARCHS4 Predicted Functions.
Co-expressed Genes View RPS6KA2-IT1's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View RPS6KA2-IT1's ARCHS4 Predicted Functions.

Functional Associations

RPS6KA2-IT1 has 363 functional associations with biological entities spanning 2 categories (cell line, cell type or tissue, gene, protein or microRNA) extracted from 7 datasets.

Click the + buttons to view associations for RPS6KA2-IT1 from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
CCLE Cell Line Gene CNV Profiles cell lines with high or low copy number of RPS6KA2-IT1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
COSMIC Cell Line Gene CNV Profiles cell lines with high or low copy number of RPS6KA2-IT1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
GTEx Tissue Gene Expression Profiles tissues with high or low expression of RPS6KA2-IT1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset.
GTEx Tissue Sample Gene Expression Profiles tissue samples with high or low expression of RPS6KA2-IT1 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset.
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles cell lines with high or low copy number of RPS6KA2-IT1 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset.
MotifMap Predicted Transcription Factor Targets transcription factors regulating expression of RPS6KA2-IT1 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset.
Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles cell types and tissues with high or low DNA methylation of RPS6KA2-IT1 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles dataset.