UNC80 - unc-80 homolog, NALCN channel complex subunit-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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285175 UNC80

基因描述

Type	Description
Definition	unc-80 homolog, NALCN channel complex subunit

研究结论

Date	Results	Publications
2020-08-29 12:49:00	Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex.	32620897
2018-09-29 11:59:00	UNC80 variant is associated with neurodevelopmental diseases.	30167850
2018-05-12 11:03:00	Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes	29572195
2017-11-04 10:28:00	UNC80 bridges between UNC79 and the cation channel NALCN.	26545877
2017-10-21 10:54:00	Further supporting the UNC80 mutations as causative of these siblings' disorder, biallelic mutations in UNC80 have recently been described among individuals with an overlapping phenotype. This report expands the disease spectrum associated with UNC80 mutations	27513830

名称对应

Type	IDs
Synonymous	C2orf21, UNC-80
Gene	UniProtKB-ID: UNC80_HUMAN, A0A669KAW8_HUMAN UniprotKB: Q8N2C7, A0A669KAW8 UniParc: UPI000198C66D, UPI0000456EDF, UPI00017E10C9, UPI000195116D, UPI0003EAF5D0, UPI00017A8561, UPI00017A7C4E, UPI0000EE3684 EMBL: AK302830, AK027583, AC006385, AC006464, CH471063, BC136693, AK090815, AB058746, BC136690, AK299022, AC007038 Ensembl: ENSG00000144406 KO: hsa:285175
Nucleutide sequences	EMBL-CDS: AAI36694.1, BAC03521.1, EAW70468.1, AAI36691.1, BAG61101.1, BAB47472.2, BAG64025.1, BAB55211.1 Ensembl_TRS: ENST00000439458, ENST00000272845, ENST00000673951
Protein sequencees	Ensembl_PRO: ENSP00000391088, ENSP00000272845, ENSP00000501012 RefSeq: XP_011509312.1, XP_011509308.1, XP_016859375.1, XP_016859383.1, XP_011509309.1, NP_115893.1, XP_016859378.1, XP_011509310.1, XP_016859373.1, NP_001358915.1, XP_016859379.1, XP_016859376.1, XP_016859381.1, XP_016859382.1, XP_011509307.1, XP_011509306.1, NP_872393.3, XP_016859380.1, XP_011509314.1, XP_005246533.1, XP_016859377.1
Others	UniRef100: UniRef100_A0A669KAW8, UniRef100_Q8N2C7 UniRef90: UniRef90_Q8N2C7 UniRef50: UniRef50_Q8N2C7 UniGene: Hs.396201 CCDS: CCDS46504.1, CCDS2387.2

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mRNA

Protein

UniprotKB

Description

Refseq

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全选

Pubmed编号	文献信息	发表日期	相关基因
32620897	Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex. Nat Commun Jinhong Wie , Apoorva Bharthur , Morgan Wolfgang , Vinodh Narayanan , Keri Ramsey , C4RCD Research Group , Kimberly Aranda , Qi Zhang , Yandong Zhou , Dejian Ren	2020-07-03	-
31753913	Systematic bromodomain protein screens identify homologous recombination and R-loop suppression pathways involved in genome integrity. Genes Dev. Jae Jin Kim , Seo Yun Lee , Fade Gong , Anna M Battenhouse , Daniel R Boutz , Aarti Bashyal , Samantha T Refvik , Cheng-Ming Chiang , Blerta Xhemalce , Tanya T Paull , Jennifer S Brodbelt , Edward M Marcotte , Kyle M Miller	2019-12-01	-
31586073	The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. Nat Commun Luisa Capalbo , Zuni I Bassi , Marco Geymonat , Sofia Todesca , Liviu Copoiu , Anton J Enright , Giuliano Callaini , Maria Giovanna Riparbelli , Lu Yu , Jyoti S Choudhary , Enrico Ferrero , Sally Wheatley , Max E Douglas , Masanori Mishima , Pier Paolo D'Avino	2019-10-04	-
30167850	Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). Hum. Genet. Nuria C Bramswig , Aida M Bertoli-Avella , Beate Albrecht , Aida I Al Aqeel , Amal Alhashem , Nouriya Al-Sannaa , Maissa Bah , Katharina BrÃ¶hl , Christel Depienne , Nathalie Dorison , Diane Doummar , Nadja Ehmke , Hasnaa M Elbendary , Svetlana Gorokhova , Delphine HÃ©ron , Denise Horn , Kiely James , Boris Keren , Alma Kuechler , Samira Ismail , Mahmoud Y Issa , Isabelle Marey , MichÃ¨le Mayer , Jennifer McEvoy-Venneri , Andre Megarbane , Cyril Mignot , Sarar Mohamed , Caroline Nava , Nicole Philip , Cecile Ravix , Arndt Rolfs , Abdelrahim Abdrabou Sadek , Lara Segebrecht , Valentina Stanley , Camille Trautman , Stephanie Valence , Laurent Villard , Thomas Wieland , Hartmut Engels , Tim M Strom , Maha S Zaki , Joseph G Gleeson , Hermann-Josef LÃ¼decke , Peter Bauer , Dagmar Wieczorek	2018-09-01	-
29572195	Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes. Gene Yunjuan He , Xing Ji , Hui Yan , Xiantao Ye , Yu Liu , Wei Wei , Bing Xiao , Yu Sun	2018-06-20	-
28065597	A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. Mol. Cell Zhong Yao , Katelyn Darowski , Nicole St-Denis , Victoria Wong , Fabian Offensperger , Annabel Villedieu , Shahreen Amin , Ramy Malty , Hiroyuki Aoki , Hongbo Guo , Yang Xu , Caterina Iorio , Max Kotlyar , Andrew Emili , Igor Jurisica , Benjamin G Neel , Mohan Babu , Anne-Claude Gingras , Igor Stagljar	2017-01-19	-
27513830	Phenotypic evolution of UNC80 loss of function. Am J Med Genet A Elise Valkanas , Katherine Schaffer , Christopher Dunham , Valerie Maduro , ChristÃ¨le du Souich , Rosemarie Rupps , David R Adams , Alireza Baradaran-Heravi , Elise Flynn , May C Malicdan , William A Gahl , Camilo Toro , Cornelius F Boerkoel	2016-12-01	-
26545877	UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN. J. Med. Genet. Yonatan Perez , Rotem Kadir , Michael Volodarsky , Iris Noyman , Hagit Flusser , Zamir Shorer , Libe Gradstein , Ramon Y Birnbaum , Ohad S Birk	2016-06-01	-
26708753	Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy. Am. J. Hum. Genet. Hanan E Shamseldin , Eissa Faqeih , Ali Alasmari , Maha S Zaki , Joseph G Gleeson , Fowzan S Alkuraya	2016-01-07	-
26708751	Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. Am. J. Hum. Genet. AsbjÃ¸rg Stray-Pedersen , Jan-Maarten Cobben , Trine E Prescott , Sora Lee , Chunlei Cang , Kimberly Aranda , Sohnee Ahmed , Marielle Alders , Thorsten Gerstner , Kathinka Aslaksen , Martine TÃ©treault , Wen Qin , Taila Hartley , Shalini N Jhangiani , Donna M Muzny , Maja Tarailo-Graovac , Clara D M van Karnebeek , Care4Rare Canada Consortium , Baylor-Hopkins Center for Mendelian Genomics , James R Lupski , Dejian Ren , Grace Yoon	2016-01-07	UNC80

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