AutismKB 2.0

Evidence Details for GRID2


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Basic Information Top
Gene Symbol:GRID2 ( MGC117022,MGC117023,MGC117024 )
Gene Full Name: glutamate receptor, ionotropic, delta 2
Band: 4q22.1-q22.2
Quick LinksEntrez ID:2895; OMIM: 602368; Uniprot ID:GRID2_HUMAN; ENSEMBL ID: ENSG00000152208; HGNC ID: 4576
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GRID2|2895|nucleotide
ATGGAAGTTTTCCCCTTTCTCTTGGTTTTGTCCGTCTGGTGGTCTCGAACCTGGGACTCGGCGAATGCGGATTCGATCATTCACATCGGAGCAATTTTTGATGAA
TCTGCCAAAAAGGATGATGAGGTATTTCGCACTGCGGTTGGTGACCTTAACCAGAATGAGGAGATCTTACAGACTGAGAAAATCACATTTTCAGTGACGTTTGTT
GATGGCAACAACCCTTTCCAAGCAGTTCAAGAAGCCTGTGAACTTATGAATCAAGGCATCTTGGCCCTGGTCAGCTCCATTGGCTGCACGTCAGCAGGATCCCTC
CAGTCTTTGGCAGACGCCATGCATATCCCCCACCTCTTCATTCAGCGCTCAACAGCTGGGACCCCAAGGAGTGGCTGTGGACTCACCCGGAGCAACAGGAATGAT
GACTACACTCTCTCAGTTCGCCCACCTGTCTACTTGCATGATGTTATCCTAAGAGTGGTCACAGAGTATGCCTGGCAGAAATTCATTATATTCTATGATAGTGAA
TACGATATCCGTGGAATACAGGAGTTCTTGGACAAAGTCTCTCAGCAGGGAATGGATGTTGCACTTCAGAAGGTAGAAAACAACATCAATAAAATGATTACCACT
CTCTTTGACACCATGAGAATAGAAGAACTGAATCGCTATCGAGACACTCTTAGGCGAGCGATCCTTGTTATGAATCCTGCTACAGCCAAATCCTTCATTACTGAG
GTTGTGGAGACTAATTTGGTTGCTTTTGACTGTCACTGGATCATTATAAATGAGGAAATAAACGATGTGGACGTACAGGAACTTGTAAGAAGGTCAATTGGAAGG
TTAACGATTATTCGGCAGACATTTCCAGTTCCCCAGAACATAAGTCAGCGGTGTTTCCGTGGCAACCATCGAATATCTTCAACATTGTGTGATCCAAAGGATCCA
TTTGCTCAGAATATGGAGATTTCCAACCTTTACATATATGACACGGTGCTTCTGCTTGCTAATGCTTTTCATAAGAAGCTGGAGGACCGAAAGTGGCACAGCATG
GCAAGTCTGTCATGTATCAGAAAGAACTCAAAGCCCTGGCAGGGTGGGCGCTCCATGTTGGAGACCATCAAGAAGGGTGGAGTTAGTGGGTTGACTGGAGAGCTA
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>GRID2|2895|protein
MEVFPFLLVLSVWWSRTWDSANADSIIHIGAIFDESAKKDDEVFRTAVGDLNQNEEILQTEKITFSVTFVDGNNPFQAVQEACELMNQGILALVSSIGCTSAGSL
QSLADAMHIPHLFIQRSTAGTPRSGCGLTRSNRNDDYTLSVRPPVYLHDVILRVVTEYAWQKFIIFYDSEYDIRGIQEFLDKVSQQGMDVALQKVENNINKMITT
LFDTMRIEELNRYRDTLRRAILVMNPATAKSFITEVVETNLVAFDCHWIIINEEINDVDVQELVRRSIGRLTIIRQTFPVPQNISQRCFRGNHRISSTLCDPKDP
FAQNMEISNLYIYDTVLLLANAFHKKLEDRKWHSMASLSCIRKNSKPWQGGRSMLETIKKGGVSGLTGELEFGENGGNPNVHFEILGTNYGEELGRGVRKLGCWN
PVTGLNGSLTDKKLENNMRGVVLRVVTVLEEPFVMVSENVLGKPKKYQGFSIDVLDALSNYLGFNYEIYVAPDHKYGSPQEDGTWNGLVGELVFKRADIGISALT
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 1 (4) 1 (1) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 4 (7)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Gazzellone MJ, 2014 China -- - - - - 104 2108 2212
Mercati O, 2017 - -ASD - - - - 1534 8936 -
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Yonan, 2003 USA microsatellite-based genomic screenPDD 345 - 345 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Michaelson JJ, 2012 - 10 565 Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018