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    UNC13B unc-13 homolog B [ Homo sapiens (human) ]

    Gene ID: 10497, updated on 17-Jun-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Munc13 structural transitions and oligomers that may choreograph successive stages in vesicle priming for neurotransmitter release.

    Munc13 structural transitions and oligomers that may choreograph successive stages in vesicle priming for neurotransmitter release.
    Grushin K, Kalyana Sundaram RV, Sindelar CV, Rothman JE., Free PMC Article

    03/12/2022
    UNC13B variants associated with partial epilepsy with favourable outcome.

    UNC13B variants associated with partial epilepsy with favourable outcome.
    Wang J, Qiao JD, Liu XR, Liu DT, Chen YH, Wu Y, Sun Y, Yu J, Ren RN, Mei Z, Liu YX, Shi YW, Jiang M, Lin SM, He N, Li B, Bian WJ, Li BM, Yi YH, Su T, Liu HK, Gu WY, Liao WP., Free PMC Article

    12/18/2021
    TRPC6 exocytosis by targeting to the C1 domain of Munc13-2.

    Munc13 mediates klotho-inhibitable diacylglycerol-stimulated exocytotic insertion of pre-docked TRPC6 vesicles.
    Xie J, An SW, Jin X, Gui Y, Huang CL., Free PMC Article

    06/27/2020
    There were no significant differences in the distribution of allele or genotype frequencies in the five UNC13B SNP markers (rs13293564, rs17360668, rs10114937, rs661712, and rs2281999) between the Diabetic Kidney Disease group and control group of patients with type 2 diabetes mellitus .

    The Association of UNC13B Gene Polymorphisms and Diabetic Kidney Disease in a Chinese Han Population.
    Wang Y, Tan J, Liu D, Yang Y, Wu H., Free PMC Article

    03/28/2020
    Abnormal splicing mutation in UNC13B was identified in the patient with bipolar disorder.

    De novo UNC13B mutation identified in a bipolar disorder patient increases a rare exon-skipping variant.
    Nakamura T, Jimbo K, Nakajima K, Tsuboi T, Kato T., Free PMC Article

    09/21/2019
    Assisted by NSF/alpha-SNAP, syntaxin-1 escapes tomosyn arrest and assembles into the Munc18-1/syntaxin-1 complex. Munc13-1 then catalyzes the transit of syntaxin-1 from the Munc18-1/syntaxin-1 complex to the SNARE complex

    Tomosyn guides SNARE complex formation in coordination with Munc18 and Munc13.
    Li Y, Wang S, Li T, Zhu L, Ma C.

    02/9/2019
    A rare missense variation (V1525M) in UNC13B was identified by WES in the multiplex family; this variation was present in five of six affected individuals, but not in eight unaffected individuals or one individual of unknown disease status. Resequencing UNC13B coding regions identified five rare missense variations (T103M, M813T, P1349T, I1362T, and V1525M).

    Rare UNC13B variations and risk of schizophrenia: Whole-exome sequencing in a multiplex family and follow-up resequencing and a case-control study.
    Egawa J, Hoya S, Watanabe Y, Nunokawa A, Shibuya M, Ikeda M, Inoue E, Okuda S, Kondo K, Saito T, Kaneko N, Muratake T, Igeta H, Iwata N, Someya T.

    09/23/2017
    The 1-5-8-26 CaM binding motif discovered in Munc13-1 cannot be induced in the classical CaM target skMLCK, indicating unique features of the Munc13 CaM binding motif.

    Structural insights into calmodulin/Munc13 interaction.
    Herbst S, Lipstein N, Jahn O, Sinz A.

    04/18/2015
    Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

    Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article

    06/30/2010
    mechanistic basis for high glucose-induced protein secretion is through interaction of munc13 and rab34, indicating a potentially critical role for this newly described pathway in the pathogenesis of DN.

    Rab34 and its effector munc13-2 constitute a new pathway modulating protein secretion in the cellular response to hyperglycemia.
    Goldenberg NM, Silverman M.

    01/21/2010
    In the bound state, the hydrophobic anchor residue of the calmodulin (CaM)-binding motif in Munc13 contacts two distinct methionine residues in the carboxyl-terminal domain of CaM.

    Structural insights into the calmodulin-Munc13 interaction obtained by cross-linking and mass spectrometry.
    Dimova K, Kalkhof S, Pottratz I, Ihling C, Rodriguez-Castaneda F, Liepold T, Griesinger C, Brose N, Sinz A, Jahn O.

    01/21/2010
    Data identified a polymorphism in the UNC13B gene associated with nephropathy. UNC13B mediates apopotosis in glomerular cells in the presence of hyperglycemia, an event occurring early in the development of nephropathy.

    G/T substitution in intron 1 of the UNC13B gene is associated with increased risk of nephropathy in patients with type 1 diabetes.
    Trégouet DA, Groop PH, McGinn S, Forsblom C, Hadjadj S, Marre M, Parving HH, Tarnow L, Telgmann R, Godefroy T, Nicaud V, Rousseau R, Parkkonen M, Hoverfält A, Gut I, Heath S, Matsuda F, Cox R, Kazeem G, Farrall M, Gauguier D, Brand-Herrmann SM, Cambien F, Lathrop M, Vionnet N, EURAGEDIC Consortium, Trégouet DA, Groop PH, McGinn S, Forsblom C, Hadjadj S, Marre M, Parving HH, Tarnow L, Telgmann R, Godefroy T, Nicaud V, Rousseau R, Parkkonen M, Hoverfält A, Gut I, Heath S, Matsuda F, Cox R, Kazeem G, Farrall M, Gauguier D, Brand-Herrmann SM, Cambien F, Lathrop M, Vionnet N, EURAGEDIC Consortium., Free PMC Articles: PMC2551697, PMC2551697

    01/21/2010
    Observational study of gene-disease association. (HuGE Navigator)

    G/T substitution in intron 1 of the UNC13B gene is associated with increased risk of nephropathy in patients with type 1 diabetes.
    Trégouet DA, Groop PH, McGinn S, Forsblom C, Hadjadj S, Marre M, Parving HH, Tarnow L, Telgmann R, Godefroy T, Nicaud V, Rousseau R, Parkkonen M, Hoverfält A, Gut I, Heath S, Matsuda F, Cox R, Kazeem G, Farrall M, Gauguier D, Brand-Herrmann SM, Cambien F, Lathrop M, Vionnet N, EURAGEDIC Consortium, Trégouet DA, Groop PH, McGinn S, Forsblom C, Hadjadj S, Marre M, Parving HH, Tarnow L, Telgmann R, Godefroy T, Nicaud V, Rousseau R, Parkkonen M, Hoverfält A, Gut I, Heath S, Matsuda F, Cox R, Kazeem G, Farrall M, Gauguier D, Brand-Herrmann SM, Cambien F, Lathrop M, Vionnet N, EURAGEDIC Consortium., Free PMC Articles: PMC2551697, PMC2551697

    07/30/2008
    Data suggest that diacylglycerol-activated hmunc13 serves as an effector of Rab34, mediating lysosome-Golgi trafficking.

    Diacylglycerol-activated Hmunc13 serves as an effector of the GTPase Rab34.
    Speight P, Silverman M.

    01/21/2010
    Munc13-1 regulates insulin exocytosis

    Regulation of insulin exocytosis by Munc13-1.
    Sheu L, Pasyk EA, Ji J, Huang X, Gao X, Varoqueaux F, Brose N, Gaisano HY.

    01/21/2010
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