1 | CORD7, CRSDS, RIMS1, RIMS2
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| Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement .
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| Mechaussier S, Almoallem B, Zeitz C, Van Schil K, Jeddawi L, Van Dorpe J, Dueñas Rey A, Condroyer C, Pelle O, Polak M, Boddaert N, Bahi-Buisson N, Cavallin M, Bacquet JL, Mouallem-Bézière A, Zambrowski O, Sahel JA, Audo I, Kaplan J, Rozet JM, De Baere E, Perrault I.
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| Am J Hum Genet. Jun 4;106(6):859-871. doi: 10.1016/j.ajhg.2020.04.018. Epub 2020 May 28 2020
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2 | CRSDS, RIMS2
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| Genome-Wide Detection of Copy Number Variations in Unsolved Inherited Retinal Disease.
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| Huang XF, Mao JY, Huang ZQ, Rao FQ, Cheng FF, Li FF, Wang QF, Jin ZB.
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| Invest Ophthalmol Vis Sci. Jan 1;58(1):424-429. doi: 10.1167/iovs.16-20705 2017
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3 | PNKD, RIMS1, RIMS2
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| Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis.
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| Shen Y, Ge WP, Li Y, Hirano A, Lee HY, Rohlmann A, Missler M, Tsien RW, Jan LY, Fu YH, Ptáček LJ.
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| Proc Natl Acad Sci U S A 112(10):2935-41. doi: 10.1073/pnas.1501364112.
2015
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4 | RIMS1, RIMS2
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| RIM determines Ca²+ channel density and vesicle docking at the presynaptic active zone.
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| Han Y, Kaeser PS, Südhof TC, Schneggenburger R.
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| Neuron 69(2):304-16.
2011
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5 | RIMS2
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| Rim2, a pyrimidine nucleotide exchanger, is needed for iron utilization in mitochondria.
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| Yoon H, Zhang Y, Pain J, Lyver ER, Lesuisse E, Pain D, Dancis A.
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| Biochem J 440(1):137-46. doi: 10.1042/BJ20111036.
2011
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6 | CACNA1D, RIMS2
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| Modulation of Cav1.3 Ca2+ channel gating by Rab3 interacting molecule.
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| Gebhart M, Juhasz-Vedres G, Zuccotti A, Brandt N, Engel J, Trockenbacher A, Kaur G, Obermair GJ, Knipper M, Koschak A, Striessnig J.
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| Mol Cell Neurosci 44(3):246-59. Epub 2010 Apr 2.
2010
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7 | RIMS2
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| Rim2alpha determines docking and priming states in insulin granule exocytosis.
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| Yasuda T, Shibasaki T, Minami K, Takahashi H, Mizoguchi A, Uriu Y, Numata T, Mori Y, Miyazaki J, Miki T, Seino S.
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| Cell Metab 12(2):117-29.
2010
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8 | PCLO, RIMS2, RIMS3
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| Investigation of the expression of genes affecting cytomatrix active zone function in the amygdala in schizophrenia: effects of antipsychotic drugs.
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| Weidenhofer J, Scott RJ, Tooney PA.
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| J Psychiatr Res 43(3):282-90. Epub 2008 May 19.
2009
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9 | ABL2, AKAP8, ANKRD13D, AP3D1, ARFGAP3, ARMCX6, ASUN, BAT2L, BCl2L13, BNIP3L, BPTF, BRD7, BZW1, BZW2, C12orf43, C19orf26, C1orf105, C2orf49, C6orf81, CA10, CAD, CARHSP1, CBX4, CCDC55, CCDC61, CCNK, CDC42BPB, CDC42EP3, CDC42EP4, CDS2, CENPN, CLK1, COPA, CSDA, CTPS2, DBN1, DCP1A, DECR2, DPF2, DPM1, EIF2AK1, EPB41L4A, EPN1, FAM91A1, FOSL2, FOXK1, GDF5OS, GFOD2, GIGYF2, GPATCH8, GTPBP1, HES7, HNRNPUL1, KIF1C, LPIN2, LRCH4, MAN2C1, MAST1, MED13, MED24, MED26, MINK1, MISP, MYO10, NKTR, OSBP, PAM, PCDH7, PEX14, PHF16, PHRF1, PLCB4, PLXNC1, POM121, POM121L2, PPHLN1, PRICKLE3, PRX, PUM2, RABGGTB, RBEL1, RIMS1, RIMS2, RPL14, RRP1B, RRP8, SAFB, SCAMP3, SCMH1, SCYL1, SENP6, SERBP1, SFRS13A, SFRS17A, SIPA1L1, SLC26A6, SLIRP, SLMAP, SNTA1, SORBS3, SPICE1, SSFA2, STAM, SUB1, TFIP11, TLN2, TMC6, TMEM104, TMEM106B, TMEM22, TOM1, UHRF1, UTP14A, WDR43, ZNF324, ZNF648
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| Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
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| Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M.
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| Cell. 127(3):635-48. 2006
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10 | RIMS1, RIMS2
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| Redundant functions of RIM1alpha and RIM2alpha in Ca(2+)-triggered neurotransmitter release.
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| Schoch S, Mittelstaedt T, Kaeser PS, Padgett D, Feldmann N, Chevaleyre V, Castillo PE, Hammer RE, Han W, Schmitz F, Lin W, Südhof TC.
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| EMBO J 25(24):5852-63. Epub 2006 Nov 23.
2006
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11 | RIMS1, RIMS2
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| Rim, a component of the presynaptic active zone and modulator of exocytosis, binds 14-3-3 through its N terminus.
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| Sun L, Bittner MA, Holz RW.
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| J Biol Chem 278(40):38301-9. Epub 2003 Jul 18. 2003
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12 | RIMS1, RIMS2, RIMS3, RIMS4, RIMBP2, BZRAP1
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| RIM binding proteins (RBPs) couple Rab3-interacting molecules (RIMs) to voltage-gated Ca(2+) channels.
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| Hibino H, Pironkova R, Onwumere O, Vologodskaia M, Hudspeth AJ, Lesage F.
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| Neuron 34(3):411-23. 2002
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13 | BZRAP1, RIMBP2, RIMS1, RIMS2, RIMS3
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| The RIM/NIM family of neuronal C2 domain proteins. Interactions with Rab3 and a new class of Src homology 3 domain proteins.
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| Wang Y, Sugita S, Sudhof TC.
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| J Biol Chem 275(26):20033-44. 2000
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14 | ADGRL2, ADGRL3, ADNP, AKAP9, ANGEL1, ARHGAP32, ATP10B, ATP1A2, BAG5, BAIAP3, CAMKK2, CLCC1, CLSTN3, DDHD2, DDN, DDX46, DDX46, DGKB, DIP, DOCK4, DST, EIF5B, EPM2AIP1, FAM131B, FAM153A, FARP2, FCHSD2, GPR116, HDAC9, IPO13, KBTBD11, KIAA0748, KIAA0753, KIAA0754, KIAA0802, KLHL18, LARP1, LRIG2, MAST2, MTUS2, MYO10, MYO1D, NFASC, NRXN3, NUP155, OSBPL2, PCNX, PHF14, PPP1R13B, RAD54L2, RBM12, RHOBTB1, RHOBTB2, RIMS2, SACS, SASH1, SEC24A, SEC24B, SEC24C, SEC24D, SENP6, SLC4A8, SNRNP200, SNX13, SORBS2, SPATA2, SPON1, SUPT7L, SV2A, SV2B, SYNE1, TBKBP1, TCAF1, TMCC1, TMEM63A, TOMM70A, TSPYL4, UBXN7, ULK1, USP34, VPRBP, VPS39, VPS8, WSCD2, XPO7, ZBED1, ZBED1Y, ZNF294, ZNF423, ZNF432
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| Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
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| Nagase T, Ishikawa K, Suyama M, Kikuno R, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O.
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| DNA Res 5(5):277-86. 1998
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