GRID2 - glutamate ionotropic receptor delta type subunit 2-BMKCloudï½ç¾è¿å®¢äº

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2895 GRID2

基因描述

Type	Description
Definition	glutamate ionotropic receptor delta type subunit 2

研究结论

Date	Results	Publications
2017-12-16 10:48:00	Report on a consanguineous family with autosomal recessive childhood onset of cerebellar ataxia and delayed psychomotor development. Using whole exome sequencing we identified a novel homozygous missense variant [c.2128C > T, p.(Arg710Trp)] in GRID2 that segregates with the disease. The missense variant is located in a conserved region encoding the extracellular serine-binding domain of the GluD2 protein.	29207948
2017-07-29 10:24:00	GRID2 gene can be a suppressor in TNF-induced neurodegeneration which may help to understand the main factors leading to autism.	27019035
2016-10-22 10:27:00	Glutamate system genes including have been associated with disease risk in recent analyses from the Psychiatric Genomics Consortium.	26905411
2016-02-27 11:13:00	findings suggest a possible role of GRID2 in the susceptibility to develop mevalonate kinase deficiency. GRID2 gene associated with MKD: The rs1450500 SNP was differently distributed in patients with MKD with respect to those with recurrent fever.	25146332
2015-12-19 10:43:00	We demonstrated for the first time GRID2 expression and localization in human and murine retina, providing evidence for a novel functional role of GRID2 in the retina.	25122145

名称对应

Type	IDs
Synonymous	GluD2, SCAR18
Gene	UniProtKB-ID: GRID2_HUMAN UniprotKB: O43424 UniParc: UPI00001AEA78, UPI0000D61598 EMBL: AF009014, BC099652, BC099654, AC095059, AC093733, BC099653, AC105452, AC093596, AC108158, AC110800, AC115111, AC104077, AC022317, AC115537, AC020699, AC096769, AC105315, AC112695, AB209318 Ensembl: ENSG00000152208 KO: hsa:2895
Nucleutide sequences	EMBL-CDS: BAD92555.1, AAH99652.1, AAH99653.1, AAH99654.1, AAC39579.1 Ensembl_TRS: ENST00000282020, ENST00000510992
Protein sequencees	Ensembl_PRO: ENSP00000421257, ENSP00000282020 RefSeq: XP_016863611.1, XP_016863610.1, XP_024309792.1, XP_011530197.1, NP_001273767.1, NP_001501.2, XP_016863616.1, XP_024309793.1, XP_016863607.1, XP_011530196.1, XP_011530195.2, XP_024309794.1, XP_016863613.1, XP_016863608.1, XP_016863609.1, XP_016863612.1, XP_016863614.1
Others	UniRef100: UniRef100_O43424 UniRef90: UniRef90_O43424 UniRef50: UniRef50_O43424 UniGene: Hs.480281 CCDS: CCDS68758.1, CCDS3637.1

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mRNA

Protein

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全选

Pubmed编号	文献信息	发表日期	相关基因
29207948	Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features. BMC Med. Genet. Zafar Ali , Shumaila Zulfiqar , Joakim Klar , Johan WikstrÃ¶m , Farid Ullah , Ayaz Khan , Uzma Abdullah , Shahid Baig , Niklas Dahl	2017-12-06	-
27418511	Structural basis for integration of GluD receptors within synaptic organizer complexes. Science Jonathan Elegheert , Wataru Kakegawa , Jordan E Clay , Natalie F Shanks , Ester Behiels , Keiko Matsuda , Kazuhisa Kohda , Eriko Miura , Maxim Rossmann , Nikolaos Mitakidis , Junko Motohashi , Veronica T Chang , Christian Siebold , Ingo H Greger , Terunaga Nakagawa , Michisuke Yuzaki , A Radu Aricescu	2016-07-15	-
27019035	Potential of GRID2 receptor gene for preventing TNF-induced neurodegeneration in autism. Neurosci. Lett. Zeynep Kalkan , Ä°lknur Melis Durasi , Ugur Sezerman , Belkis Atasever-Arslan	2016-05-04	-
26905411	Antipsychotic pharmacogenomics in first episode psychosis: a role for glutamate genes. Transl Psychiatry J M Stevenson , J L Reilly , M S H Harris , S R Patel , P J Weiden , K M Prasad , J A Badner , V L Nimgaonkar , M S Keshavan , J A Sweeney , J R Bishop	2016-01-01	-
25841024	GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia. Neurology Marie Coutelier , Lydie Burglen , Emeline Mundwiller , Myriam Abada-Bendib , Diana Rodriguez , Sandra Chantot-Bastaraud , Christelle Rougeot , Marie-Anne Cournelle , Mathieu Milh , Annick Toutain , Delphine Bacq , Vincent Meyer , Alexandra Afenjar , Jean-FranÃ§ois Deleuze , Alexis Brice , Delphine HÃ©ron , Giovanni Stevanin , Alexandra Durr	2015-04-28	GRID2
25146332	GRID2 a novel gene possibly associated with mevalonate kinase deficiency. Rheumatol. Int. Ronald Moura , Paola Maura Tricarico , Antonio Victor Campos Coelho , Sergio Crovella	2015-04-01	GRID2
25122145	Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion. Genet Med Kristof Van Schil , FranÃ§oise Meire , Marcus Karlstetter , Miriam Bauwens , Hannah Verdin , Frauke Coppieters , Eva Scheiffert , Christian Van Nechel , Thomas Langmann , Nicolas Deconinck , Elfride De Baere	2015-04-01	-
24357660	Type 1 metabotropic glutamate receptors (mGlu1) trigger the gating of GluD2 delta glutamate receptors. EMBO Rep Visou Ady , Julie Perroy , Ludovic Tricoire , Claire Piochon , Selma Dadak , Xiaoru Chen , Isabelle Dusart , Laurent Fagni , Bertrand Lambolez , Carole Levenes	2014-01-01	-
24078737	Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans. Neurology L Benjamin Hills , Amira Masri , Kotaro Konno , Wataru Kakegawa , Anh-Thu N Lam , Elizabeth Lim-Melia , Nandini Chandy , R Sean Hill , Jennifer N Partlow , Muna Al-Saffar , Ramzi Nasir , Joan M Stoler , A James Barkovich , Masahiko Watanabe , Michisuke Yuzaki , Ganeshwaran H Mochida	2013-10-15	Grid2, GRID2
23611888	A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy. J. Child Neurol. G Eda Utine , GÃ¶knur HaliloÄlu , Bilge Salanci , Arda Ãetinkaya , P Ãzlem Kiper , Yasemin Alanay , Dilek Aktas , Koray BoduroÄlu , Mehmet AlikaÅifoÄlu	2013-07-01	GRID2

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