Property Summary

NCBI Gene PubMed Count 57
Grant Count 51
R01 Count 28
Funding $5,942,050.31
PubMed Score 153.27
PubTator Score 218.75

Knowledge Summary

Patent (3,154)

Expression

  Differential Expression (2)

Disease log2 FC p
acute quadriplegic myopathy -1.020 0.001
psoriasis -1.200 0.000

MLP Assay (10)

AID Type Active / Inconclusive / Inactive Description
686924 other 0 / 0 / 1 ML347 Eurofin Panel Assay for BMP Inhibitor (Probe Compound)
686925 other 0 / 0 / 1 ML352 Eurofin Panel Assay for Choline Transporter Inhibitor (Probe Compound)
686926 other 0 / 0 / 1 ML354 Eurofin Panel Assay for PAR4 Antagonists Inhibitor (Probe Compound)
686927 other 0 / 0 / 1 ML353 Eurofin Panel Assay for mGlu5 SAM Inhibitor (Probe Compound)
743249 screening 1 / 0 / 0 Development of the First Potent, Selective and CNS penetrant M5 Negative Allosteric Modulator (NAM)
743250 screening 1 / 0 / 0 Discovery and characterization of a small molecule allosteric agonists of mas-related G-Protein coupled receptor X1 ( MrgX1)
743251 screening 1 / 0 / 0 Development of a novel orthosteric Muscarinic 5 (M5) antagonist possessing a hig degree of muscarinic subtype selectivity
743252 screening 1 / 0 / 0 Development of the first CNS penetrant Muscarinic 5 (M5) Positive Allosteric Modulator based on a novel non-isatin core
743435 other 0 / 0 / 0 Development of inhibitors for Dopamine D4 Receptors: Eurofin Panel Assay Results
743437 other 0 / 0 / 0 Development of inhibitors for PLD2 (Eurofin Panel Assay Results)

Gene RIF (30)

PMID Text
26252573 CACNA1S and SCN4A mutations are relatively rare in patients with hypokalemic periodic paralysis
25735680 Defects in the genes coding for the skeletal muscle ryanodine receptor and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) have been identified as causative for malignant hyperthermia.
25658027 The authors found one and three rare variants of unknown significance in CACNA1S in the Malignant Hyperthermia and Exertional Heat cohorts
24013571 Exome sequencing revealed one rare cacna1s nonsynonymous variant in a family with malignant hyperthermia
23888875 Aberrant splicing of Cav 1.1 may alter intracellular Ca(2+) signalling in myotonic dystrophy 1 and 2 myotubes. The differing dysregulation of intracellular Ca(2+) handling in DM1 and DM2 may explain their distinct sarcolemmal hyperexcitabilities.
22927026 Data indicate that the presence of either one of these JP-45 variants decreased the sensitivity of the dihydropyridine receptor DHPR to activation.
22140091 Misregulated splicing and altered gating of Ca(V)1.1 calcium channel is associated with muscle weakness in myotonic dystrophy.
21855088 A novel mutation in the CACNA1S gene--p.Arg900Gly--is found in a patient with hypokalemic periodic paralysis; this mutation is subsequently found to affect some of the patient's other family members.
21845430 Affected members of a 5-generation Chinese family with hypokalemic periodic paralysis patients had a novel His916Gln mutation in all male HypoPP patients of the family. Penetrance of the mutation was complete in male carriers, but not female carriers.
21841462 All familial periodic paralysis patients studied have mutations in either CACNA1S or SCN4A, but only 4 sporadic periodic paralysis patients have de novo mutations in CACNA1S (R1239H) and SCN4A (R669x2, R1135H).
More...

AA Sequence

MEPSSPQDEGLRKKQPKKPVPEILPRPPRALFCLTLENPLRKACISIVEWKPFETIILLTIFANCVALAV      1 - 70
YLPMPEDDNNSLNLGLEKLEYFFLIVFSIEAAMKIIAYGFLFHQDAYLRSGWNVLDFTIVFLGVFTVILE     71 - 140
QVNVIQSHTAPMSSKGAGLDVKALRAFRVLRPLRLVSGVPSLQVVLNSIFKAMLPLFHIALLVLFMVIIY    141 - 210
AIIGLELFKGKMHKTCYFIGTDIVATVENEEPSPCARTGSGRRCTINGSECRGGWPGPNHGITHFDNFGF    211 - 280
SMLTVYQCITMEGWTDVLYWVNDAIGNEWPWIYFVTLILLGSFFILNLVLGVLSGEFTKEREKAKSRGTF    281 - 350
QKLREKQQLDEDLRGYMSWITQGEVMDVEDFREGKLSLDEGGSDTESLYEIAGLNKIIQFIRHWRQWNRI    351 - 420
FRWKCHDIVKSKVFYWLVILIVALNTLSIASEHHNQPLWLTRLQDIANRVLLSLFTTEMLMKMYGLGLRQ    421 - 490
YFMSIFNRFDCFVVCSGILEILLVESGAMTPLGISVLRCIRLLRIFKITKYWTSLSNLVASLLNSIRSIA    491 - 560
SLLLLLFLFIVIFALLGMQLFGGRYDFEDTEVRRSNFDNFPQALISVFQVLTGEDWTSMMYNGIMAYGGP    561 - 630
SYPGMLVCIYFIILFVCGNYILLNVFLAIAVDNLAEAESLTSAQKAKAEEKKRRKMSKGLPDKSEEEKST    631 - 700
MAKKLEQKPKGEGIPTTAKLKIDEFESNVNEVKDPYPSADFPGDDEEDEPEIPLSPRPRPLAELQLKEKA    701 - 770
VPIPEASSFFIFSPTNKIRVLCHRIVNATWFTNFILLFILLSSAALAAEDPIRADSMRNQILKHFDIGFT    771 - 840
SVFTVEIVLKMTTYGAFLHKGSFCRNYFNMLDLLVVAVSLISMGLESSAISVVKILRVLRVLRPLRAINR    841 - 910
AKGLKHVVQCMFVAISTIGNIVLVTTLLQFMFACIGVQLFKGKFFRCTDLSKMTEEECRGYYYVYKDGDP    911 - 980
MQIELRHREWVHSDFHFDNVLSAMMSLFTVSTFEGWPQLLYKAIDSNAEDVGPIYNNRVEMAIFFIIYII    981 - 1050
LIAFFMMNIFVGFVIVTFQEQGETEYKNCELDKNQRQCVQYALKARPLRCYIPKNPYQYQVWYIVTSSYF   1051 - 1120
EYLMFALIMLNTICLGMQHYNQSEQMNHISDILNVAFTIIFTLEMILKLMAFKARGYFGDPWNVFDFLIV   1121 - 1190
IGSIIDVILSEIDTFLASSGGLYCLGGGCGNVDPDESARISSAFFRLFRVMRLIKLLSRAEGVRTLLWTF   1191 - 1260
IKSFQALPYVALLIVMLFFIYAVIGMQMFGKIALVDGTQINRNNNFQTFPQAVLLLFRCATGEAWQEILL   1261 - 1330
ACSYGKLCDPESDYAPGEEYTCGTNFAYYYFISFYMLCAFLVINLFVAVIMDNFDYLTRDWSILGPHHLD   1331 - 1400
EFKAIWAEYDPEAKGRIKHLDVVTLLRRIQPPLGFGKFCPHRVACKRLVGMNMPLNSDGTVTFNATLFAL   1401 - 1470
VRTALKIKTEGNFEQANEELRAIIKKIWKRTSMKLLDQVIPPIGDDEVTVGKFYATFLIQEHFRKFMKRQ   1471 - 1540
EEYYGYRPKKDIVQIQAGLRTIEEEAAPEICRTVSGDLAAEEELERAMVEAAMEEGIFRRTGGLFGQVDN   1541 - 1610
FLERTNSLPPVMANQRPLQFAEIEMEEMESPVFLEDFPQDPRTNPLARANTNNANANVAYGNSNHSNSHV   1611 - 1680
FSSVHYEREFPEETETPATRGRALGQPCRVLGPHSKPCVEMLKGLLTQRAMPRGQAPPAPCQCPRVESSM   1681 - 1750
PEDRKSSTPGSLHEETPHSRSTRENTSRCSAPATALLIQKALVRGGLGTLAADANFIMATGQALADACQM   1751 - 1820
EPEEVEIMATELLKGREAPEGMASSLGCLNLGSSLGSLDQHQGSQETLIPPRL                    1821 - 1873
//

Publication (59)

PMID Year Title
26252573 2015 Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis.
25735680 2015 Analysis of the entire ryanodine receptor type 1 and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) coding regions for variants associated with malignant hyperthermia in Australian families.
25658027 2015 Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness.
25416956 2014 A proteome-scale map of the human interactome network.
24013571 2013 Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families.
23888875 2014 Alternative splicing alterations of Ca2+ handling genes are associated with Ca2+ signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (DM2) myotubes.
22927026 2013 JP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptor.
22140091 2012 Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of Ca(V)1.1 calcium channel.
21931568 2011 Genome-wide association study identifies four loci associated with eruption of permanent teeth.
21855088 2011 A novel mutation in the calcium channel gene in a family with hypokalemic periodic paralysis.
More...